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Entry version 152 (16 Oct 2019)
Sequence version 2 (30 Nov 2010)
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Protein

Tetratricopeptide repeat protein 21B

Gene

TTC21B

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

Component of the IFT complex A (IFT-A), a complex required for retrograde ciliary transport and entry into cilia of G protein-coupled receptors (GPCRs). Essential for retrograde trafficking of IFT-1, IFT-B and GPCRs (PubMed:27932497). Negatively modulates the SHH signal transduction (By similarity).By similarity1 Publication

<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 - Biological processi

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-5610787 Hedgehog 'off' state
R-HSA-5620924 Intraflagellar transport

<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:
Tetratricopeptide repeat protein 21BCurated
Short name:
TPR repeat protein 21B
Alternative name(s):
Intraflagellar transport 139 homologCurated
<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:TTC21BImported
Synonyms:IFT1392 Publications, KIAA1992
ORF Names:Nbla10696
<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 2

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:25660 TTC21B

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
612014 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q7Z4L5

<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

<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>Keywords - Cellular componenti

Cell projection, Cilium, Cytoplasm, Cytoskeleton

<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

Ciliary dysfunction leads to a broad spectrum of disorders, collectively termed ciliopathies. Overlapping clinical features include retinal degeneration, renal cystic disease, skeletal abnormalities, fibrosis of various organ, and a complex range of anatomical and functional defects of the central and peripheral nervous system. The ciliopathy range of diseases includes Meckel-Gruber syndrome, Bardet-Biedl syndrome, Joubert syndrome, nephronophtisis, Senior-Loken syndrome, and Jeune asphyxiating thoracic dystrophy among others. TTC21B is causally associated with diverse ciliopathies. It also acts as a modifier gene across the ciliopathy spectrum, interacting in trans with mutations in other ciliopathy-causing genes and contributing to disease manifestation and severity.1 Publication
Nephronophthisis 12 (NPHP12)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disorder resulting in end-stage renal disease. It is a progressive tubulo-interstitial kidney disorder histologically characterized by modifications of the tubules with thickening of the basement membrane, interstitial fibrosis and, in the advanced stages, medullary cysts. Some patients manifest extra-renal features including retinal, skeletal and central nervous system defects.
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_065516150W → R in NPHP12; with extra-renal features; functionally null mutation in vitro. 1 Publication1
Natural variantiVAR_065518209P → L in NPHP12; also found in a patient with Bardet-Biedl syndrome carrying two variants in BBS4; hypomorphic variant in vitro. 1 PublicationCorresponds to variant dbSNP:rs140511594EnsemblClinVar.1
Natural variantiVAR_065520231T → S in SRTD4 and NPHP12; also found in a patient with Bardet-Biedl syndrome carrying variants L-159 and T-346 in BBS12; also found in a patient with Meckel-Gruber syndrome carrying a homozygous variant in TMEM216; hypomorphic variant in vitro. 1 PublicationCorresponds to variant dbSNP:rs149925563EnsemblClinVar.1
Natural variantiVAR_065529566H → R in NPHP12; unknown pathological significance; functionally null mutation in vitro. 1 PublicationCorresponds to variant dbSNP:rs146320075EnsemblClinVar.1
Natural variantiVAR_0655491167Y → C in NPHP12; hypomorphic variant in vitro. 1 PublicationCorresponds to variant dbSNP:rs1040877016Ensembl.1
Short-rib thoracic dysplasia 4 with or without polydactyly (SRTD4)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of short-rib thoracic dysplasia, a group of autosomal recessive ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. Polydactyly is variably present. Non-skeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of the disease are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life. Disease spectrum encompasses Ellis-van Creveld syndrome, asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino syndrome, and short rib-polydactyly syndrome.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_065520231T → S in SRTD4 and NPHP12; also found in a patient with Bardet-Biedl syndrome carrying variants L-159 and T-346 in BBS12; also found in a patient with Meckel-Gruber syndrome carrying a homozygous variant in TMEM216; hypomorphic variant in vitro. 1 PublicationCorresponds to variant dbSNP:rs149925563EnsemblClinVar.1
Natural variantiVAR_065536755D → Y in SRTD4; functionally null mutation in vitro. 1 Publication1
Natural variantiVAR_065537795L → P in SRTD4; functionally null mutation in vitro. 1 PublicationCorresponds to variant dbSNP:rs387907060EnsemblClinVar.1
Joubert syndrome 11 (JBTS11)2 Publications
The disease may be caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_065530591S → N in JBTS11; hypomorphic variant in vitro. 1 Publication1
Natural variantiVAR_065539867R → C in JBTS11; functionally null mutation in vitro. 1 PublicationCorresponds to variant dbSNP:rs746700857Ensembl.1
Natural variantiVAR_0681721011M → T in JBTS11. 1 PublicationCorresponds to variant dbSNP:rs777427926Ensembl.1
Natural variantiVAR_0655501186M → V in JBTS11; hypomorphic variant in vitro. 1 PublicationCorresponds to variant dbSNP:rs376308209Ensembl.1

Keywords - Diseasei

Ciliopathy, Disease mutation, Joubert syndrome, Meckel syndrome, Mental retardation, Nephronophthisis, Obesity

Organism-specific databases

DisGeNET

More...
DisGeNETi
79809

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

More...
GeneReviewsi
TTC21B

MalaCards human disease database

More...
MalaCardsi
TTC21B
MIMi613819 phenotype
613820 phenotype

Open Targets

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OpenTargetsi
ENSG00000123607

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

More...
Orphaneti
93591 Infantile nephronophthisis
474 Jeune syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134882767

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q7Z4L5

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
TTC21B

Domain mapping of disease mutations (DMDM)

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DMDMi
313104038

<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 ‘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_00002919171 – 1316Tetratricopeptide repeat protein 21BAdd BLAST1316

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q7Z4L5

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q7Z4L5

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q7Z4L5

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q7Z4L5

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

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PaxDbi
Q7Z4L5

PeptideAtlas

More...
PeptideAtlasi
Q7Z4L5

PRoteomics IDEntifications database

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PRIDEi
Q7Z4L5

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
69206 [Q7Z4L5-1]
69207 [Q7Z4L5-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q7Z4L5

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

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PhosphoSitePlusi
Q7Z4L5

<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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000123607 Expressed in 114 organ(s), highest expression level in intestine

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q7Z4L5 baseline and differential

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA035494
HPA035495

<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

Component of the IFT complex A (IFT-A) complex (PubMed:20889716, PubMed:27932497). IFT-A complex is divided into a core subcomplex composed of IFT122:IFT140:WDR19 which is associated with TULP3 and a peripheral subcomplex composed of IFT43:WDR35:TTC21B (PubMed:27932497).

Interacts directy with WDR35 and TTC21B (PubMed:27932497).

Interacts with TTC25 (PubMed:25860617).

3 Publications

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
122904, 16 interactors

CORUM comprehensive resource of mammalian protein complexes

More...
CORUMi
Q7Z4L5

Protein interaction database and analysis system

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IntActi
Q7Z4L5, 14 interactors

Molecular INTeraction database

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MINTi
Q7Z4L5

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000243344

<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

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SMRi
Q7Z4L5

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 ‘Family and Domains’ section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati108 – 141TPR 1Add BLAST34
Repeati145 – 178TPR 2Add BLAST34
Repeati180 – 211TPR 3Add BLAST32
Repeati285 – 323TPR 4Add BLAST39
Repeati324 – 357TPR 5Add BLAST34
Repeati492 – 525TPR 6Add BLAST34
Repeati563 – 596TPR 7Add BLAST34
Repeati617 – 650TPR 8Add BLAST34
Repeati722 – 755TPR 9Add BLAST34
Repeati757 – 789TPR 10Add BLAST33
Repeati791 – 822TPR 11Add BLAST32
Repeati831 – 864TPR 12Add BLAST34
Repeati884 – 917TPR 13Add BLAST34
Repeati919 – 951TPR 14Add BLAST33
Repeati952 – 985TPR 15Add BLAST34
Repeati1023 – 1056TPR 16Add BLAST34
Repeati1197 – 1230TPR 17Add BLAST34
Repeati1232 – 1264TPR 18Add BLAST33
Repeati1266 – 1299TPR 19Add BLAST34

<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 TTC21 family.Curated

Keywords - Domaini

Repeat, TPR repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
ENOG410IEX1 Eukaryota
ENOG410XV69 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00390000005979

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q7Z4L5

KEGG Orthology (KO)

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KOi
K19673

Identification of Orthologs from Complete Genome Data

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OMAi
PEWGQQA

Database of Orthologous Groups

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OrthoDBi
926106at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q7Z4L5

TreeFam database of animal gene trees

More...
TreeFami
TF314664

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
1.25.40.10, 6 hits

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR013026 TPR-contain_dom
IPR011990 TPR-like_helical_dom_sf
IPR019734 TPR_repeat
IPR040364 TTC21A/TTC21B

The PANTHER Classification System

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PANTHERi
PTHR14699 PTHR14699, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF13181 TPR_8, 3 hits

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00028 TPR, 18 hits

Superfamily database of structural and functional annotation

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SUPFAMi
SSF48452 SSF48452, 4 hits

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50005 TPR, 10 hits
PS50293 TPR_REGION, 5 hits

<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.

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 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q7Z4L5-1) [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
MDSQELKTLI NYYCQERYFH HVLLVASEGI KRYGSDPVFR FYHAYGTLME
60 70 80 90 100
GKTQEALREF EAIKNKQDVS LCSLLALIYA HKMSPNPDRE AILESDARVK
110 120 130 140 150
EQRKGAGEKA LYHAGLFLWH IGRHDKAREY IDRMIKISDG SKQGHVLKAW
160 170 180 190 200
LDITRGKEPY TKKALKYFEE GLQDGNDTFA LLGKAQCLEM RQNYSGALET
210 220 230 240 250
VNQIIVNFPS FLPAFVKKMK LQLALQDWDQ TVETAQRLLL QDSQNVEALR
260 270 280 290 300
MQALYYVCRE GDIEKASTKL ENLGNTLDAM EPQNAQLFYN ITLAFSRTCG
310 320 330 340 350
RSQLILQKIQ TLLERAFSLN PQQSEFATEL GYQMILQGRV KEALKWYKTA
360 370 380 390 400
MTLDETSVSA LVGFIQCQLI EGQLQDADQQ LEFLNEIQQS IGKSAELIYL
410 420 430 440 450
HAVLAMKKNK RQEEVINLLN DVLDTHFSQL EGLPLGIQYF EKLNPDFLLE
460 470 480 490 500
IVMEYLSFCP MQPASPGQPL CPLLRRCISV LETVVRTVPG LLQTVFLIAK
510 520 530 540 550
VKYLSGDIEA AFNNLQHCLE HNPSYADAHL LLAQVYLSQE KVKLCSQSLE
560 570 580 590 600
LCLSYDFKVR DYPLYHLIKA QSQKKMGEIA DAIKTLHMAM SLPGMKRIGA
610 620 630 640 650
STKSKDRKTE VDTSHRLSIF LELIDVHRLN GEQHEATKVL QDAIHEFSGT
660 670 680 690 700
SEEVRVTIAN ADLALAQGDI ERALSILQNV TAEQPYFIEA REKMADIYLK
710 720 730 740 750
HRKDKMLYIT CFREIAERMA NPRSFLLLGD AYMNILEPEE AIVAYEQALN
760 770 780 790 800
QNPKDGTLAS KMGKALIKTH NYSMAITYYE AALKTGQKNY LCYDLAELLL
810 820 830 840 850
KLKWYDKAEK VLQHALAHEP VNELSALMED GRCQVLLAKV YSKMEKLGDA
860 870 880 890 900
ITALQQAREL QARVLKRVQM EQPDAVPAQK HLAAEICAEI AKHSVAQRDY
910 920 930 940 950
EKAIKFYREA LVHCETDNKI MLELARLYLA QDDPDSCLRQ CALLLQSDQD
960 970 980 990 1000
NEAATMMMAD LMFRKQDYEQ AVFHLQQLLE RKPDNYMTLS RLIDLLRRCG
1010 1020 1030 1040 1050
KLEDVPRFFS MAEKRNSRAK LEPGFQYCKG LYLWYTGEPN DALRHFNKAR
1060 1070 1080 1090 1100
KDRDWGQNAL YNMIEICLNP DNETVGGEVF ENLDGDLGNS TEKQESVQLA
1110 1120 1130 1140 1150
VRTAEKLLKE LKPQTVQGHV QLRIMENYCL MATKQKSNVE QALNTFTEIA
1160 1170 1180 1190 1200
ASEKEHIPAL LGMATAYMIL KQTPRARNQL KRIAKMNWNA IDAEEFEKSW
1210 1220 1230 1240 1250
LLLADIYIQS AKYDMAEDLL KRCLRHNRSC CKAYEYMGYI MEKEQAYTDA
1260 1270 1280 1290 1300
ALNYEMAWKY SNRTNPAVGY KLAFNYLKAK RYVDSIDICH QVLEAHPTYP
1310
KIRKDILDKA RASLRP
Length:1,316
Mass (Da):150,937
Last modified:November 30, 2010 - v2
<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:i2C8505224012736B
GO
Isoform 2 (identifier: Q7Z4L5-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     463-482: PASPGQPLCPLLRRCISVLE → VSNYGTYFQGCVYLMFYERT
     483-1316: Missing.

Note: No experimental confirmation available.
Show »
Length:482
Mass (Da):55,527
Checksum:i476B0345F3D8F36C
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 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A494C0N4A0A494C0N4_HUMAN
Tetratricopeptide repeat protein 21...
TTC21B
1,274Annotation 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>
H9KV93H9KV93_HUMAN
Tetratricopeptide repeat protein 21...
TTC21B
283Annotation 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>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAY14750 differs from that shown. Reason: Erroneous gene model prediction.Curated
The sequence BAB13836 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated

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 conflicti227D → N in BAE45724 (PubMed:12880961).Curated1
Sequence conflicti669D → G in BAB71404 (PubMed:14702039).Curated1
Sequence conflicti1187N → D in BAB13836 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06551460F → Y Found in a patient with Meckel-Gruber like syndrome also carrying variant C-671 in BBS7; unknown pathological significance; hypomorphic variant in vitro. 1 PublicationCorresponds to variant dbSNP:rs371571631Ensembl.1
Natural variantiVAR_06551566K → R1 Publication1
Natural variantiVAR_065516150W → R in NPHP12; with extra-renal features; functionally null mutation in vitro. 1 Publication1
Natural variantiVAR_065517157K → E Found in a patient with Bardet-Biedl syndrome; probably acts as disease modifier; the patient also carries a frameshift mutation and variant M-501 in BBS12; hypomorphic variant in vitro. 1 Publication1
Natural variantiVAR_032888201V → M3 PublicationsCorresponds to variant dbSNP:rs1432273EnsemblClinVar.1
Natural variantiVAR_065518209P → L in NPHP12; also found in a patient with Bardet-Biedl syndrome carrying two variants in BBS4; hypomorphic variant in vitro. 1 PublicationCorresponds to variant dbSNP:rs140511594EnsemblClinVar.1
Natural variantiVAR_065519222Q → L Found in a patient with Meckel-Gruber like syndrome also carrying variant V-280 on the same allele and variant G-1183 in RPGRIP1L; unknown pathological significance; hypomorphic variant in vitro. 1 PublicationCorresponds to variant dbSNP:rs80026831EnsemblClinVar.1
Natural variantiVAR_065520231T → S in SRTD4 and NPHP12; also found in a patient with Bardet-Biedl syndrome carrying variants L-159 and T-346 in BBS12; also found in a patient with Meckel-Gruber syndrome carrying a homozygous variant in TMEM216; hypomorphic variant in vitro. 1 PublicationCorresponds to variant dbSNP:rs149925563EnsemblClinVar.1
Natural variantiVAR_065521242D → N1 PublicationCorresponds to variant dbSNP:rs74447004EnsemblClinVar.1
Natural variantiVAR_065522255Y → C Found in a patient with Bardet-Biedl syndrome; probably acts as disease modifier; the patient also carries a frameshift mutation and variant P-34 in BBS10; hypomorphic variant in vitro. 1 PublicationCorresponds to variant dbSNP:rs377061787Ensembl.1
Natural variantiVAR_032889276T → A3 PublicationsCorresponds to variant dbSNP:rs7592429EnsemblClinVar.1
Natural variantiVAR_065523280M → V Found in a patient with Meckel-Gruber like syndrome also carrying L-222 on the same allele and variant G-1183 in RPGRIP1L; unknown pathological significance; hypomorphic variant in vitro. 1 PublicationCorresponds to variant dbSNP:rs112868646EnsemblClinVar.1
Natural variantiVAR_065524327A → S Found in a patient with Meckel-Gruber syndrome also carrying a mutation in CC2D2A; unknown pathological significance; hypomorphic variant in vitro. 1 Publication1
Natural variantiVAR_065525347Y → C Found in a patient with Meckel-Gruber syndrome also carrying N-1041 on the same allele; unknown pathological significance; hypomorphic variant in vitro. 1 PublicationCorresponds to variant dbSNP:rs779121249Ensembl.1
Natural variantiVAR_065526411R → G Found in a patient with Bardet-Biedl syndrome; probably acts as disease modifier; the patient also carries a homozygous frameshift mutation in BBS7; hypomorphic variant in vitro. 1 PublicationCorresponds to variant dbSNP:rs185089786EnsemblClinVar.1
Natural variantiVAR_065527412Q → R1 PublicationCorresponds to variant dbSNP:rs199873923Ensembl.1
Natural variantiVAR_065528424D → E1 PublicationCorresponds to variant dbSNP:rs533077805Ensembl.1
Natural variantiVAR_032890463P → S. Corresponds to variant dbSNP:rs16851307EnsemblClinVar.1
Natural variantiVAR_032891473L → F. Corresponds to variant dbSNP:rs2163649EnsemblClinVar.1
Natural variantiVAR_065529566H → R in NPHP12; unknown pathological significance; functionally null mutation in vitro. 1 PublicationCorresponds to variant dbSNP:rs146320075EnsemblClinVar.1
Natural variantiVAR_065530591S → N in JBTS11; hypomorphic variant in vitro. 1 Publication1
Natural variantiVAR_065531616R → C1 PublicationCorresponds to variant dbSNP:rs139441507EnsemblClinVar.1
Natural variantiVAR_065532624I → V1 PublicationCorresponds to variant dbSNP:rs77106136EnsemblClinVar.1
Natural variantiVAR_065533645H → R1 PublicationCorresponds to variant dbSNP:rs200291881Ensembl.1
Natural variantiVAR_065534724S → T1 PublicationCorresponds to variant dbSNP:rs759317777Ensembl.1
Natural variantiVAR_065535753P → L Found in a patient with Meckel-Gruber like syndrome carrying variant D-559 in BBS1 and a variant in CC2D2A; unknown pathological significance; functionally null mutation in vitro. 1 PublicationCorresponds to variant dbSNP:rs539769126EnsemblClinVar.1
Natural variantiVAR_065536755D → Y in SRTD4; functionally null mutation in vitro. 1 Publication1
Natural variantiVAR_065537795L → P in SRTD4; functionally null mutation in vitro. 1 PublicationCorresponds to variant dbSNP:rs387907060EnsemblClinVar.1
Natural variantiVAR_065538844M → V Found in a patient with Meckel-Gruber syndrome; unknown pathological significance; functionally null mutation in vitro. 1 PublicationCorresponds to variant dbSNP:rs766811699EnsemblClinVar.1
Natural variantiVAR_032892846K → R. Corresponds to variant dbSNP:rs7595010Ensembl.1
Natural variantiVAR_065539867R → C in JBTS11; functionally null mutation in vitro. 1 PublicationCorresponds to variant dbSNP:rs746700857Ensembl.1
Natural variantiVAR_065540867R → H Found in a patient with Meckel-Gruber syndrome also carrying a homozygous variant in CC2D2A; also found in a patient with short-rib thoracic dysplasia without polydactyly compoud heterozygous for causative mutations in IFT81; probably acts as disease modifier; functionally null mutation in vitro. 2 PublicationsCorresponds to variant dbSNP:rs76726265EnsemblClinVar.1
Natural variantiVAR_065541869Q → R Found in a patient with Meckel-Gruber like syndrome; unknown pathological significance; hypomorphic variant in vitro. 1 PublicationCorresponds to variant dbSNP:rs137926033Ensembl.1
Natural variantiVAR_065542939R → Q Hypomorphic variant in vitro. 1 PublicationCorresponds to variant dbSNP:rs751382210Ensembl.1
Natural variantiVAR_065543939R → W Functionally null mutation in vitro. 1 PublicationCorresponds to variant dbSNP:rs151227843EnsemblClinVar.1
Natural variantiVAR_0655441002L → V Found in a patient with Meckel-Gruber like syndrome; also found in patients with Bardet-Bied syndrome; also found in a patient with nephronophthisis with extra-renal features; unknown pathological significance; hypomorphic variant in vitro. 1 PublicationCorresponds to variant dbSNP:rs146496725EnsemblClinVar.1
Natural variantiVAR_0681721011M → T in JBTS11. 1 PublicationCorresponds to variant dbSNP:rs777427926Ensembl.1
Natural variantiVAR_0655451011M → V1 PublicationCorresponds to variant dbSNP:rs761842893Ensembl.1
Natural variantiVAR_0655461035Y → C1 PublicationCorresponds to variant dbSNP:rs757541819Ensembl.1
Natural variantiVAR_0655471041D → N Found in a patient with Meckel-Gruber syndrome also carrying C-347 on the same allele; unknown pathological significance; functionally null mutation in vitro. 1 Publication1
Natural variantiVAR_0655481103T → R Found in a patient with Bardet-Biedl syndrome; probably acts as disease modifier; the patient also carries two mutations in BBS6; hypomorphic variant in vitro. 1 PublicationCorresponds to variant dbSNP:rs1482808126Ensembl.1
Natural variantiVAR_0655491167Y → C in NPHP12; hypomorphic variant in vitro. 1 PublicationCorresponds to variant dbSNP:rs1040877016Ensembl.1
Natural variantiVAR_0655501186M → V in JBTS11; hypomorphic variant in vitro. 1 PublicationCorresponds to variant dbSNP:rs376308209Ensembl.1
Natural variantiVAR_0655511208I → S Found in a patient with Bardet-Biedl syndrome; probably acts as disease modifier; the patients also carries two mutations in BBS1; functionally null mutation in vitro. 1 PublicationCorresponds to variant dbSNP:rs189519760EnsemblClinVar.1
Natural variantiVAR_0655521284D → H1 PublicationCorresponds to variant dbSNP:rs139537546Ensembl.1
Natural variantiVAR_0655531311R → G1 Publication1

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_026306463 – 482PASPG…ISVLE → VSNYGTYFQGCVYLMFYERT in isoform 2. 1 PublicationAdd BLAST20
Alternative sequenceiVSP_026307483 – 1316Missing in isoform 2. 1 PublicationAdd BLAST834

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
AB073395 mRNA Translation: BAE45724.1
AC010127 Genomic DNA No translation available.
AC011241 Genomic DNA Translation: AAY14750.1 Sequence problems.
BC035767 mRNA Translation: AAH35767.1
BC055424 mRNA Translation: AAH55424.1
BC063579 mRNA Translation: AAH63579.1
AK021519 mRNA Translation: BAB13836.1 Different initiation.
AK057268 mRNA Translation: BAB71404.1
AB082523 mRNA Translation: BAC02701.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS33315.1 [Q7Z4L5-1]

NCBI Reference Sequences

More...
RefSeqi
NP_079029.3, NM_024753.4 [Q7Z4L5-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000243344; ENSP00000243344; ENSG00000123607 [Q7Z4L5-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
79809

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:79809

UCSC genome browser

More...
UCSCi
uc002udk.4 human [Q7Z4L5-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<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

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB073395 mRNA Translation: BAE45724.1
AC010127 Genomic DNA No translation available.
AC011241 Genomic DNA Translation: AAY14750.1 Sequence problems.
BC035767 mRNA Translation: AAH35767.1
BC055424 mRNA Translation: AAH55424.1
BC063579 mRNA Translation: AAH63579.1
AK021519 mRNA Translation: BAB13836.1 Different initiation.
AK057268 mRNA Translation: BAB71404.1
AB082523 mRNA Translation: BAC02701.1
CCDSiCCDS33315.1 [Q7Z4L5-1]
RefSeqiNP_079029.3, NM_024753.4 [Q7Z4L5-1]

3D structure databases

SMRiQ7Z4L5
ModBaseiSearch...

Protein-protein interaction databases

BioGridi122904, 16 interactors
CORUMiQ7Z4L5
IntActiQ7Z4L5, 14 interactors
MINTiQ7Z4L5
STRINGi9606.ENSP00000243344

PTM databases

iPTMnetiQ7Z4L5
PhosphoSitePlusiQ7Z4L5

Polymorphism and mutation databases

BioMutaiTTC21B
DMDMi313104038

Proteomic databases

EPDiQ7Z4L5
jPOSTiQ7Z4L5
MassIVEiQ7Z4L5
MaxQBiQ7Z4L5
PaxDbiQ7Z4L5
PeptideAtlasiQ7Z4L5
PRIDEiQ7Z4L5
ProteomicsDBi69206 [Q7Z4L5-1]
69207 [Q7Z4L5-2]

Genome annotation databases

EnsembliENST00000243344; ENSP00000243344; ENSG00000123607 [Q7Z4L5-1]
GeneIDi79809
KEGGihsa:79809
UCSCiuc002udk.4 human [Q7Z4L5-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
79809
DisGeNETi79809

GeneCards: human genes, protein and diseases

More...
GeneCardsi
TTC21B
GeneReviewsiTTC21B
HGNCiHGNC:25660 TTC21B
HPAiHPA035494
HPA035495
MalaCardsiTTC21B
MIMi612014 gene
613819 phenotype
613820 phenotype
neXtProtiNX_Q7Z4L5
OpenTargetsiENSG00000123607
Orphaneti93591 Infantile nephronophthisis
474 Jeune syndrome
PharmGKBiPA134882767

Human Unidentified Gene-Encoded large proteins database

More...
HUGEi
Search...

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IEX1 Eukaryota
ENOG410XV69 LUCA
GeneTreeiENSGT00390000005979
InParanoidiQ7Z4L5
KOiK19673
OMAiPEWGQQA
OrthoDBi926106at2759
PhylomeDBiQ7Z4L5
TreeFamiTF314664

Enzyme and pathway databases

ReactomeiR-HSA-5610787 Hedgehog 'off' state
R-HSA-5620924 Intraflagellar transport

Miscellaneous databases

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

More...
ChiTaRSi
TTC21B human

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

More...
GenomeRNAii
79809
PharosiQ7Z4L5

Protein Ontology

More...
PROi
PR:Q7Z4L5

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000123607 Expressed in 114 organ(s), highest expression level in intestine
ExpressionAtlasiQ7Z4L5 baseline and differential

Family and domain databases

Gene3Di1.25.40.10, 6 hits
InterProiView protein in InterPro
IPR013026 TPR-contain_dom
IPR011990 TPR-like_helical_dom_sf
IPR019734 TPR_repeat
IPR040364 TTC21A/TTC21B
PANTHERiPTHR14699 PTHR14699, 1 hit
PfamiView protein in Pfam
PF13181 TPR_8, 3 hits
SMARTiView protein in SMART
SM00028 TPR, 18 hits
SUPFAMiSSF48452 SSF48452, 4 hits
PROSITEiView protein in PROSITE
PS50005 TPR, 10 hits
PS50293 TPR_REGION, 5 hits

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 nameiTT21B_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: Q7Z4L5
Secondary accession number(s): A8MUZ3
, Q3LIE4, Q53T84, Q6P4A1, Q6PIF5, Q8NCN3, Q96MA4, Q9HAK8
<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: June 26, 2007
Last sequence update: November 30, 2010
Last modified: October 16, 2019
This is version 152 of the entry and version 2 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, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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