Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Entry version 209 (03 Jul 2019)
Sequence version 3 (23 Jan 2007)
Previous versions | rss
Other tutorials and videosHelp videoFeedback
Protein

H/ACA ribonucleoprotein complex subunit DKC1

Gene

DKC1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Isoform 1: Catalytic subunit of H/ACA small nucleolar ribonucleoprotein (H/ACA snoRNP) complex, which catalyzes pseudouridylation of rRNA (PubMed:25219674). This involves the isomerization of uridine such that the ribose is subsequently attached to C5, instead of the normal N1 (PubMed:25219674). Each rRNA can contain up to 100 pseudouridine ('psi') residues, which may serve to stabilize the conformation of rRNAs. Required for ribosome biogenesis and telomere maintenance (PubMed:19179534, PubMed:25219674). Also required for correct processing or intranuclear trafficking of TERC, the RNA component of the telomerase reverse transcriptase (TERT) holoenzyme (PubMed:19179534).2 Publications
Isoform 3: Promotes cell to cell and cell to substratum adhesion, increases the cell proliferation rate and leads to cytokeratin hyper-expression.1 Publication

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei125NucleophileBy similarity1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionIsomerase, Ribonucleoprotein, RNA-binding
Biological processRibosome biogenesis, rRNA processing

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-171319 Telomere Extension By Telomerase
R-HSA-6790901 rRNA modification in the nucleus and cytosol

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
H/ACA ribonucleoprotein complex subunit DKC1 (EC:5.4.99.-1 Publication)
Alternative name(s):
CBF5 homolog
Dyskerin
Nopp140-associated protein of 57 kDa
Nucleolar protein NAP57
Nucleolar protein family A member 4
snoRNP protein DKC1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:DKC1Imported
Synonyms:NOLA4
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome X

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:2890 DKC1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
300126 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_O60832

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Dyskeratosis congenita, X-linked (DKCX)9 Publications
The disease is caused by mutations affecting the gene represented in this entry. Reduced rRNA pseudouridine levels in cells from patients (PubMed:25219674).1 Publication
Disease descriptionA rare, progressive bone marrow failure syndrome characterized by the triad of reticulated skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Early mortality is often associated with bone marrow failure, infections, fatal pulmonary complications, or malignancy.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_0100762A → V in DKCX. 1 PublicationCorresponds to variant dbSNP:rs121912303EnsemblClinVar.1
Natural variantiVAR_00681136F → V in DKCX. 1 PublicationCorresponds to variant dbSNP:rs121912293EnsemblClinVar.1
Natural variantiVAR_00681237Missing in DKCX; results in mislocalization of the telomerase complex without affecting telomerase activity. 2 Publications1
Natural variantiVAR_01007739K → E in DKCX. 1 PublicationCorresponds to variant dbSNP:rs121912296EnsemblClinVar.1
Natural variantiVAR_00681340P → R in DKCX. 1 PublicationCorresponds to variant dbSNP:rs121912292EnsemblClinVar.1
Natural variantiVAR_01007841E → K in DKCX. 1 PublicationCorresponds to variant dbSNP:rs121912302EnsemblClinVar.1
Natural variantiVAR_08070754L → V in DKCX; results in mislocalization of the telomerase complex without affecting telomerase activity. 1 Publication1
Natural variantiVAR_06382156L → S in DKCX; due to a 2 nucleotide inversion. 1 PublicationCorresponds to variant dbSNP:rs121912287EnsemblClinVar.1
Natural variantiVAR_01007965R → T in DKCX. 1 PublicationCorresponds to variant dbSNP:rs121912301EnsemblClinVar.1
Natural variantiVAR_01008066T → A in DKCX; decreases interaction with SHQ1. 2 PublicationsCorresponds to variant dbSNP:rs121912297EnsemblClinVar.1
Natural variantiVAR_06382272L → F in DKCX. 1 PublicationCorresponds to variant dbSNP:rs121912306EnsemblClinVar.1
Natural variantiVAR_00681472L → Y in DKCX; requires 2 nucleotide substitutions. 1 PublicationCorresponds to variant dbSNP:rs121912294EnsemblClinVar.1
Natural variantiVAR_063823317L → F in DKCX. 1 PublicationCorresponds to variant dbSNP:rs121912290EnsemblClinVar.1
Natural variantiVAR_010081321L → V in DKCX. 1 PublicationCorresponds to variant dbSNP:rs2728726EnsemblClinVar.1
Natural variantiVAR_063824322R → Q in DKCX. 1 PublicationCorresponds to variant dbSNP:rs121912291EnsemblClinVar.1
Natural variantiVAR_010082350M → I in DKCX; increases interaction with SHQ1. 2 PublicationsCorresponds to variant dbSNP:rs121912298EnsemblClinVar.1
Natural variantiVAR_010083350M → T in DKCX; decreases interaction with SHQ1. 2 PublicationsCorresponds to variant dbSNP:rs121912300EnsemblClinVar.1
Natural variantiVAR_009264353A → V in DKCX and HHS; increases interaction with SHQ1. 3 PublicationsCorresponds to variant dbSNP:rs121912288EnsemblClinVar.1
Natural variantiVAR_006815402G → E in DKCX. 1 PublicationCorresponds to variant dbSNP:rs121912295EnsemblClinVar.1
Natural variantiVAR_010084402G → R in DKCX. 1 PublicationCorresponds to variant dbSNP:rs121912299EnsemblClinVar.1
Natural variantiVAR_063825409P → L in DKCX. 1 PublicationCorresponds to variant dbSNP:rs121912289EnsemblClinVar.1
Hoyeraal-Hreidarsson syndrome (HHS)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA clinically severe variant of dyskeratosis congenita that is characterized by multisystem involvement, early onset in utero, and often results in death in childhood. Affected individuals show intrauterine growth retardation, microcephaly, cerebellar hypoplasia, delayed development, and bone marrow failure resulting in immunodeficiency.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01567438I → T in HHS. 1 PublicationCorresponds to variant dbSNP:rs28936072EnsemblClinVar.1
Natural variantiVAR_01567549T → M in HHS; increases interaction with SHQ1. 3 PublicationsCorresponds to variant dbSNP:rs121912304EnsemblClinVar.1
Natural variantiVAR_015676121S → G in HHS; no effect on interaction with SHQ1. 2 PublicationsCorresponds to variant dbSNP:rs121912305EnsemblClinVar.1
Natural variantiVAR_009264353A → V in DKCX and HHS; increases interaction with SHQ1. 3 PublicationsCorresponds to variant dbSNP:rs121912288EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi353A → R: Increases interaction with SHQ1. 1 Publication1

Keywords - Diseasei

Disease mutation, Dyskeratosis congenita

Organism-specific databases

DisGeNET

More...
DisGeNETi
1736

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
DKC1

MalaCards human disease database

More...
MalaCardsi
DKC1
MIMi305000 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000130826

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
1775 Dyskeratosis congenita
3322 Hoyeraal-Hreidarsson syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA27344

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
DKC1

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemovedCombined sources1 Publication
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001219832 – 514H/ACA ribonucleoprotein complex subunit DKC1Add BLAST513

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei2N-acetylalanineCombined sources1 Publication1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki20Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei21PhosphoserineCombined sources1
Cross-linki39Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki43Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki191Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei387PhosphoserineCombined sources1
Cross-linki394Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki413Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1); alternateCombined sources
Cross-linki413Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternateCombined sources
Cross-linki424Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki433Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei451PhosphoserineCombined sources1
Modified residuei453PhosphoserineCombined sources1
Modified residuei455PhosphoserineCombined sources1
Modified residuei458PhosphothreonineBy similarity1
Cross-linki467Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei485PhosphoserineCombined sources1
Modified residuei494PhosphoserineCombined sources1
Modified residuei513PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
O60832

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
O60832

MaxQB - The MaxQuant DataBase

More...
MaxQBi
O60832

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
O60832

PeptideAtlas

More...
PeptideAtlasi
O60832

PRoteomics IDEntifications database

More...
PRIDEi
O60832

ProteomicsDB human proteome resource

More...
ProteomicsDBi
49624
49625 [O60832-2]

2D gel databases

Two-dimensional polyacrylamide gel electrophoresis database from the Geneva University Hospital

More...
SWISS-2DPAGEi
O60832

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
O60832

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
O60832

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
O60832

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Ubiquitously expressed.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000130826 Expressed in 226 organ(s), highest expression level in layer of synovial tissue

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
O60832 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
O60832 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
CAB033086
HPA000166
HPA000447
HPA001022

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Part of the H/ACA small nucleolar ribonucleoprotein (H/ACA snoRNP) complex, which contains NHP2/NOLA2, GAR1/NOLA1, NOP10/NOLA3, and DKC1/NOLA4, which is presumed to be the catalytic subunit (PubMed:15044956). The complex contains a stable core formed by binding of one or two NOP10-DKC1 heterodimers to NHP2; GAR1 subsequently binds to this core via DKC1 (PubMed:15044956). The complex binds a box H/ACA small nucleolar RNA (snoRNA), which may target the specific site of modification within the RNA substrate (PubMed:15044956). During assembly, the complex contains NAF1 instead of GAR1/NOLA1 (PubMed:16601202, PubMed:16618814). The complex also interacts with TERC, which contains a 3'-terminal domain related to the box H/ACA snoRNAs. Specific interactions with snoRNAs or TERC are mediated by GAR1 and NHP2. Associates with NOLC1/NOPP140 (PubMed:15044956). H/ACA snoRNPs interact with the SMN complex, consisting of SMN1 or SMN2, GEMIN2/SIP1, DDX20/GEMIN3, and GEMIN4. This is mediated by interaction between GAR1 and SMN1 or SMN2. The SMN complex may be required for correct assembly of the H/ACA snoRNP complex (PubMed:15044956).

Component of the telomerase holoenzyme complex composed of one molecule of TERT, one molecule of WRAP53/TCAB1, two molecules of H/ACA ribonucleoprotein complex subunits DKC1, NOP10, NHP2 and GAR1, and a telomerase RNA template component (TERC) (PubMed:11074001, PubMed:19179534, PubMed:20351177, PubMed:29695869). The telomerase holoenzyme complex is associated with TEP1, SMG6/EST1A and POT1 (PubMed:19179534).

Interacts with SHQ1; this interaction may lead to the stabilization of DKC1, from the time of its synthesis until its association with NOP10, NHP2, and NAF1 at the nascent H/ACA RNA (PubMed:19734544, PubMed:19383767).

Interacts with HMBOX1 (PubMed:23685356).

Interacts with DHX36 (PubMed:21846770).

11 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
108080, 173 interactors

ComplexPortal: manually curated resource of macromolecular complexes

More...
ComplexPortali
CPX-265 Telomerase holoenzyme complex

CORUM comprehensive resource of mammalian protein complexes

More...
CORUMi
O60832

Database of interacting proteins

More...
DIPi
DIP-40645N

Protein interaction database and analysis system

More...
IntActi
O60832, 59 interactors

Molecular INTeraction database

More...
MINTi
O60832

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000358563

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
O60832

Database of comparative protein structure models

More...
ModBasei
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini296 – 371PUAPROSITE-ProRule annotationAdd BLAST76

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni2 – 21Nucleolar localizationAdd BLAST20
Regioni446 – 514Nuclear and nucleolar localizationAdd BLAST69

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi11 – 17Poly-Lys7

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the pseudouridine synthase TruB family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG2529 Eukaryota
COG0130 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00510000047092

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000231224

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
O60832

KEGG Orthology (KO)

More...
KOi
K11131

Identification of Orthologs from Complete Genome Data

More...
OMAi
IYQRPPL

Database of Orthologous Groups

More...
OrthoDBi
1282784at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
O60832

TreeFam database of animal gene trees

More...
TreeFami
TF300354

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR012960 Dyskerin-like
IPR020103 PsdUridine_synth_cat_dom_sf
IPR002501 PsdUridine_synth_N
IPR002478 PUA
IPR015947 PUA-like_sf
IPR004802 tRNA_PsdUridine_synth_B_fam
IPR032819 TruB_C
IPR004521 Uncharacterised_CHP00451

The PANTHER Classification System

More...
PANTHERi
PTHR23127 PTHR23127, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF08068 DKCLD, 1 hit
PF01472 PUA, 1 hit
PF16198 TruB_C_2, 1 hit
PF01509 TruB_N, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM01136 DKCLD, 1 hit
SM00359 PUA, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF55120 SSF55120, 1 hit
SSF88697 SSF88697, 1 hit

TIGRFAMs; a protein family database

More...
TIGRFAMsi
TIGR00425 CBF5, 1 hit
TIGR00451 unchar_dom_2, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50890 PUA, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: O60832-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MADAEVIILP KKHKKKKERK SLPEEDVAEI QHAEEFLIKP ESKVAKLDTS
60 70 80 90 100
QWPLLLKNFD KLNVRTTHYT PLACGSNPLK REIGDYIRTG FINLDKPSNP
110 120 130 140 150
SSHEVVAWIR RILRVEKTGH SGTLDPKVTG CLIVCIERAT RLVKSQQSAG
160 170 180 190 200
KEYVGIVRLH NAIEGGTQLS RALETLTGAL FQRPPLIAAV KRQLRVRTIY
210 220 230 240 250
ESKMIEYDPE RRLGIFWVSC EAGTYIRTLC VHLGLLLGVG GQMQELRRVR
260 270 280 290 300
SGVMSEKDHM VTMHDVLDAQ WLYDNHKDES YLRRVVYPLE KLLTSHKRLV
310 320 330 340 350
MKDSAVNAIC YGAKIMLPGV LRYEDGIEVN QEIVVITTKG EAICMAIALM
360 370 380 390 400
TTAVISTCDH GIVAKIKRVI MERDTYPRKW GLGPKASQKK LMIKQGLLDK
410 420 430 440 450
HGKPTDSTPA TWKQEYVDYS ESAKKEVVAE VVKAPQVVAE AAKTAKRKRE
460 470 480 490 500
SESESDETPP AAPQLIKKEK KKSKKDKKAK AGLESGAEPG DGDSDTTKKK
510
KKKKKAKEVE LVSE
Length:514
Mass (Da):57,674
Last modified:January 23, 2007 - v3
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i12474DBEEFEB471C
GO
Isoform 3 (identifier: O60832-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     420-514: SESAKKEVVA...KAKEVELVSE → R

Show »
Length:420
Mass (Da):47,603
Checksum:iA14633849FB65A56
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H7C0M1H7C0M1_HUMAN
H/ACA ribonucleoprotein complex sub...
DKC1
229Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9IYT0C9IYT0_HUMAN
H/ACA ribonucleoprotein complex sub...
DKC1
258Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H7C2Q2H7C2Q2_HUMAN
H/ACA ribonucleoprotein complex sub...
DKC1
207Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H7C2Q9H7C2Q9_HUMAN
H/ACA ribonucleoprotein complex sub...
DKC1
169Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H7BZF2H7BZF2_HUMAN
H/ACA ribonucleoprotein complex sub...
DKC1
76Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti37L → F in AAB94299 (Ref. 4) Curated1
Sequence conflicti285V → F in AAH09928 (PubMed:15489334).Curated1
Sequence conflicti446K → KVSGMLSSVWN in CAB51168 (PubMed:10364516).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0100762A → V in DKCX. 1 PublicationCorresponds to variant dbSNP:rs121912303EnsemblClinVar.1
Natural variantiVAR_00681136F → V in DKCX. 1 PublicationCorresponds to variant dbSNP:rs121912293EnsemblClinVar.1
Natural variantiVAR_00681237Missing in DKCX; results in mislocalization of the telomerase complex without affecting telomerase activity. 2 Publications1
Natural variantiVAR_01567438I → T in HHS. 1 PublicationCorresponds to variant dbSNP:rs28936072EnsemblClinVar.1
Natural variantiVAR_01007739K → E in DKCX. 1 PublicationCorresponds to variant dbSNP:rs121912296EnsemblClinVar.1
Natural variantiVAR_00681340P → R in DKCX. 1 PublicationCorresponds to variant dbSNP:rs121912292EnsemblClinVar.1
Natural variantiVAR_01007841E → K in DKCX. 1 PublicationCorresponds to variant dbSNP:rs121912302EnsemblClinVar.1
Natural variantiVAR_01567549T → M in HHS; increases interaction with SHQ1. 3 PublicationsCorresponds to variant dbSNP:rs121912304EnsemblClinVar.1
Natural variantiVAR_08070754L → V in DKCX; results in mislocalization of the telomerase complex without affecting telomerase activity. 1 Publication1
Natural variantiVAR_06382156L → S in DKCX; due to a 2 nucleotide inversion. 1 PublicationCorresponds to variant dbSNP:rs121912287EnsemblClinVar.1
Natural variantiVAR_01007965R → T in DKCX. 1 PublicationCorresponds to variant dbSNP:rs121912301EnsemblClinVar.1
Natural variantiVAR_01008066T → A in DKCX; decreases interaction with SHQ1. 2 PublicationsCorresponds to variant dbSNP:rs121912297EnsemblClinVar.1
Natural variantiVAR_06382272L → F in DKCX. 1 PublicationCorresponds to variant dbSNP:rs121912306EnsemblClinVar.1
Natural variantiVAR_00681472L → Y in DKCX; requires 2 nucleotide substitutions. 1 PublicationCorresponds to variant dbSNP:rs121912294EnsemblClinVar.1
Natural variantiVAR_015676121S → G in HHS; no effect on interaction with SHQ1. 2 PublicationsCorresponds to variant dbSNP:rs121912305EnsemblClinVar.1
Natural variantiVAR_022553223G → D. Corresponds to variant dbSNP:rs2728533Ensembl.1
Natural variantiVAR_063823317L → F in DKCX. 1 PublicationCorresponds to variant dbSNP:rs121912290EnsemblClinVar.1
Natural variantiVAR_010081321L → V in DKCX. 1 PublicationCorresponds to variant dbSNP:rs2728726EnsemblClinVar.1
Natural variantiVAR_063824322R → Q in DKCX. 1 PublicationCorresponds to variant dbSNP:rs121912291EnsemblClinVar.1
Natural variantiVAR_010082350M → I in DKCX; increases interaction with SHQ1. 2 PublicationsCorresponds to variant dbSNP:rs121912298EnsemblClinVar.1
Natural variantiVAR_010083350M → T in DKCX; decreases interaction with SHQ1. 2 PublicationsCorresponds to variant dbSNP:rs121912300EnsemblClinVar.1
Natural variantiVAR_009264353A → V in DKCX and HHS; increases interaction with SHQ1. 3 PublicationsCorresponds to variant dbSNP:rs121912288EnsemblClinVar.1
Natural variantiVAR_006815402G → E in DKCX. 1 PublicationCorresponds to variant dbSNP:rs121912295EnsemblClinVar.1
Natural variantiVAR_010084402G → R in DKCX. 1 PublicationCorresponds to variant dbSNP:rs121912299EnsemblClinVar.1
Natural variantiVAR_063825409P → L in DKCX. 1 PublicationCorresponds to variant dbSNP:rs121912289EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_042422420 – 514SESAK…ELVSE → R in isoform 3. 1 PublicationAdd BLAST95

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AJ224481 Genomic DNA Translation: CAA11970.1
AJ010395, AJ010396 Genomic DNA Translation: CAB51168.1
AF067008 mRNA Translation: AAD11815.1
AF067023
, AF067009, AF067010, AF067011, AF067012, AF067013, AF067014, AF067015, AF067016, AF067017, AF067018, AF067019, AF067020, AF067021, AF067022 Genomic DNA Translation: AAD20232.1
U59151 mRNA Translation: AAB94299.1
JF279874 mRNA Translation: ADX66370.1
AC109993 Genomic DNA No translation available.
BC009928 mRNA Translation: AAH09928.1
BC010015 mRNA Translation: AAH10015.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS14761.1 [O60832-1]
CCDS76062.1 [O60832-2]

NCBI Reference Sequences

More...
RefSeqi
NP_001135935.1, NM_001142463.2
NP_001275676.1, NM_001288747.1 [O60832-2]
NP_001354.1, NM_001363.4 [O60832-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000369550; ENSP00000358563; ENSG00000130826 [O60832-1]
ENST00000620277; ENSP00000478387; ENSG00000130826 [O60832-2]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
1736

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:1736

UCSC genome browser

More...
UCSCi
uc004fmm.5 human [O60832-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

DKC1base

DKC1 mutation db

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ224481 Genomic DNA Translation: CAA11970.1
AJ010395, AJ010396 Genomic DNA Translation: CAB51168.1
AF067008 mRNA Translation: AAD11815.1
AF067023
, AF067009, AF067010, AF067011, AF067012, AF067013, AF067014, AF067015, AF067016, AF067017, AF067018, AF067019, AF067020, AF067021, AF067022 Genomic DNA Translation: AAD20232.1
U59151 mRNA Translation: AAB94299.1
JF279874 mRNA Translation: ADX66370.1
AC109993 Genomic DNA No translation available.
BC009928 mRNA Translation: AAH09928.1
BC010015 mRNA Translation: AAH10015.1
CCDSiCCDS14761.1 [O60832-1]
CCDS76062.1 [O60832-2]
RefSeqiNP_001135935.1, NM_001142463.2
NP_001275676.1, NM_001288747.1 [O60832-2]
NP_001354.1, NM_001363.4 [O60832-1]

3D structure databases

SMRiO60832
ModBaseiSearch...

Protein-protein interaction databases

BioGridi108080, 173 interactors
ComplexPortaliCPX-265 Telomerase holoenzyme complex
CORUMiO60832
DIPiDIP-40645N
IntActiO60832, 59 interactors
MINTiO60832
STRINGi9606.ENSP00000358563

PTM databases

iPTMnetiO60832
PhosphoSitePlusiO60832
SwissPalmiO60832

Polymorphism and mutation databases

BioMutaiDKC1

2D gel databases

SWISS-2DPAGEiO60832

Proteomic databases

EPDiO60832
jPOSTiO60832
MaxQBiO60832
PaxDbiO60832
PeptideAtlasiO60832
PRIDEiO60832
ProteomicsDBi49624
49625 [O60832-2]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
1736
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000369550; ENSP00000358563; ENSG00000130826 [O60832-1]
ENST00000620277; ENSP00000478387; ENSG00000130826 [O60832-2]
GeneIDi1736
KEGGihsa:1736
UCSCiuc004fmm.5 human [O60832-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
1736
DisGeNETi1736

GeneCards: human genes, protein and diseases

More...
GeneCardsi
DKC1
GeneReviewsiDKC1
HGNCiHGNC:2890 DKC1
HPAiCAB033086
HPA000166
HPA000447
HPA001022
MalaCardsiDKC1
MIMi300126 gene
305000 phenotype
neXtProtiNX_O60832
OpenTargetsiENSG00000130826
Orphaneti1775 Dyskeratosis congenita
3322 Hoyeraal-Hreidarsson syndrome
PharmGKBiPA27344

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG2529 Eukaryota
COG0130 LUCA
GeneTreeiENSGT00510000047092
HOGENOMiHOG000231224
InParanoidiO60832
KOiK11131
OMAiIYQRPPL
OrthoDBi1282784at2759
PhylomeDBiO60832
TreeFamiTF300354

Enzyme and pathway databases

ReactomeiR-HSA-171319 Telomere Extension By Telomerase
R-HSA-6790901 rRNA modification in the nucleus and cytosol

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
DKC1 human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
Dyskerin

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
1736

Protein Ontology

More...
PROi
PR:O60832

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000130826 Expressed in 226 organ(s), highest expression level in layer of synovial tissue
ExpressionAtlasiO60832 baseline and differential
GenevisibleiO60832 HS

Family and domain databases

InterProiView protein in InterPro
IPR012960 Dyskerin-like
IPR020103 PsdUridine_synth_cat_dom_sf
IPR002501 PsdUridine_synth_N
IPR002478 PUA
IPR015947 PUA-like_sf
IPR004802 tRNA_PsdUridine_synth_B_fam
IPR032819 TruB_C
IPR004521 Uncharacterised_CHP00451
PANTHERiPTHR23127 PTHR23127, 1 hit
PfamiView protein in Pfam
PF08068 DKCLD, 1 hit
PF01472 PUA, 1 hit
PF16198 TruB_C_2, 1 hit
PF01509 TruB_N, 1 hit
SMARTiView protein in SMART
SM01136 DKCLD, 1 hit
SM00359 PUA, 1 hit
SUPFAMiSSF55120 SSF55120, 1 hit
SSF88697 SSF88697, 1 hit
TIGRFAMsiTIGR00425 CBF5, 1 hit
TIGR00451 unchar_dom_2, 1 hit
PROSITEiView protein in PROSITE
PS50890 PUA, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiDKC1_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: O60832
Secondary accession number(s): F5BSB3
, O43845, Q96G67, Q9Y505
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 15, 1998
Last sequence update: January 23, 2007
Last modified: July 3, 2019
This is version 209 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again