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 148 (16 Oct 2019)
Sequence version 2 (06 Dec 2005)
Previous versions | rss
Help videoAdd a publicationFeedback
Protein

Ankyrin repeat and SAM domain-containing protein 6

Gene

ANKS6

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

Required for renal function.1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection describes interesting single amino acid sites on the sequence that are not defined in any other subsection. This subsection can be displayed in different sections (‘Function’, ‘PTM / Processing’, ‘Pathology and Biotech’) according to its content.<p><a href='/help/site' target='_top'>More...</a></p>Sitei823Essential for ANKS3 interactionBy similarity1

<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:
Ankyrin repeat and SAM domain-containing protein 6
Alternative name(s):
Ankyrin repeat domain-containing protein 14
SamCystin
Sterile alpha motif domain-containing protein 6
Short name:
SAM domain-containing protein 6
<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:ANKS6
Synonyms:ANKRD14, PKDR1, SAMD6
<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 9

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:26724 ANKS6

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
615370 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q68DC2

<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

<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

<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

Nephronophthisis 16 (NPHP16)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of nephronophthisis, a chronic tubulo-interstitial nephritis that progresses to end-stage renal failure. Some patients have cystic kidneys of normal size and no extrarenal manifestations, whereas others have enlarged renal size and severe extrarenal defects, including hypertrophic obstructive cardiomyopathy, aortic stenosis, pulmonary stenosis, patent ductus arteriosus, situs inversus, and periportal liver fibrosis.
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_070106312A → P in NPHP16. 1 Publication1
Natural variantiVAR_070108441Q → R in NPHP16. Corresponds to variant dbSNP:rs377750405EnsemblClinVar.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>Mutagenesisi798E → K: Loss of interaction with ANKS3. 1 Publication1
Mutagenesisi811D → K: Loss of interaction with ANKS3. 1 Publication1
Mutagenesisi823R → W: Loss of interaction with ANKS3. 1 Publication1

Keywords - Diseasei

Ciliopathy, Disease mutation, Joubert syndrome, Nephronophthisis

Organism-specific databases

DisGeNET

More...
DisGeNETi
203286

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

More...
GeneReviewsi
ANKS6

MalaCards human disease database

More...
MalaCardsi
ANKS6
MIMi615382 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000165138

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

More...
Orphaneti
93591 Infantile nephronophthisis
93592 Juvenile nephronophthisis

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134931829

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q68DC2

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
ANKS6

Domain mapping of disease mutations (DMDM)

More...
DMDMi
83305683

<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_00000670651 – 871Ankyrin repeat and SAM domain-containing protein 6Add BLAST871

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 residuei1383-hydroxyasparagineBy similarity1
Modified residuei657PhosphoserineCombined sources1
Modified residuei734PhosphoserineCombined sources1
Modified residuei742PhosphoserineCombined sources1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Hydroxylated at Asn-138, most probably by HIF1AN. This hydroxylation results in decreased NEK8-binding.By similarity

Keywords - PTMi

Hydroxylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q68DC2

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q68DC2

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q68DC2

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q68DC2

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

More...
PaxDbi
Q68DC2

PeptideAtlas

More...
PeptideAtlasi
Q68DC2

PRoteomics IDEntifications database

More...
PRIDEi
Q68DC2

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
66071 [Q68DC2-1]
66072 [Q68DC2-3]
66073 [Q68DC2-4]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q68DC2

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

More...
PhosphoSitePlusi
Q68DC2

<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

More...
Bgeei
ENSG00000165138 Expressed in 156 organ(s), highest expression level in right hemisphere of cerebellum

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q68DC2 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q68DC2 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA008355

<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

Homooligomer (By similarity). Central component of a complex containing at least ANKS6, INVS, NEK8 and NPHP3 (PubMed:23793029). ANKS6 may organize complex assembly by linking INVS and NPHP3 to NEK8 and INVS may target the complex to the proximal ciliary axoneme (PubMed:23793029).

Interacts (via SAM domain) with BICC1 (via KH domains) in an RNA-dependent manner (By similarity).

Interacts (via SAM domain) with ANKS3 (via SAM domain) (PubMed:24998259).

By similarity2 Publications

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
128464, 16 interactors

CORUM comprehensive resource of mammalian protein complexes

More...
CORUMi
Q68DC2

Protein interaction database and analysis system

More...
IntActi
Q68DC2, 15 interactors

Molecular INTeraction database

More...
MINTi
Q68DC2

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000297837

<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

Secondary structure

1871
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

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

More...
SMRi
Q68DC2

Database of comparative protein structure models

More...
ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

More...
PDBe-KBi
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>Repeati8 – 37ANK 1Add BLAST30
Repeati77 – 106ANK 2Add BLAST30
Repeati110 – 139ANK 3Add BLAST30
Repeati143 – 172ANK 4Add BLAST30
Repeati190 – 219ANK 5Add BLAST30
Repeati224 – 253ANK 6Add BLAST30
Repeati257 – 289ANK 7Add BLAST33
Repeati291 – 321ANK 8Add BLAST31
Repeati325 – 354ANK 9Add BLAST30
Repeati359 – 388ANK 10Add BLAST30
Repeati392 – 423ANK 11Add BLAST32
<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>Domaini773 – 836SAMPROSITE-ProRule annotationAdd BLAST64

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 biasi617 – 769Ser-richAdd BLAST153

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The ankyrin repeats are necessary and sufficient for NEK8-binding.1 Publication
The SAM domain mediates interaction with the SAM domain of ANKS3.1 Publication

Keywords - Domaini

ANK repeat, Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG0504 Eukaryota
KOG4374 Eukaryota
COG0666 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000157664

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q68DC2

KEGG Orthology (KO)

More...
KOi
K21415

Identification of Orthologs from Complete Genome Data

More...
OMAi
FCDEPEP

Database of Orthologous Groups

More...
OrthoDBi
1137424at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q68DC2

TreeFam database of animal gene trees

More...
TreeFami
TF328552

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
1.10.150.50, 1 hit
1.25.40.20, 2 hits

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR002110 Ankyrin_rpt
IPR020683 Ankyrin_rpt-contain_dom
IPR036770 Ankyrin_rpt-contain_sf
IPR001660 SAM
IPR013761 SAM/pointed_sf

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF12796 Ank_2, 3 hits
PF00536 SAM_1, 1 hit

Protein Motif fingerprint database; a protein domain database

More...
PRINTSi
PR01415 ANKYRIN

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00248 ANK, 9 hits
SM00454 SAM, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF47769 SSF47769, 1 hit
SSF48403 SSF48403, 2 hits

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50297 ANK_REP_REGION, 1 hit
PS50088 ANK_REPEAT, 7 hits
PS50105 SAM_DOMAIN, 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 (3+)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 3 <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 3 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q68DC2-1) [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
MGEGGLPPAF QLLLRACDQG DTETARRLLE PGAAEPAERG AEPEAGAEPA
60 70 80 90 100
GAEVAGPGAA AAGAVGAPVP VDCSDEAGNT ALQFAAAGGH EPLVRFLLRR
110 120 130 140 150
GASVNSRNHY GWSALMQAAR FGHVSVAHLL LDHGADVNAQ NRLGASVLTV
160 170 180 190 200
ASRGGHLGVV KLLLEAGAFV DHHHPSGEQL GLGGSRDEPL DITALMAAIQ
210 220 230 240 250
HGHEAVVRLL MEWGADPNHA ARTVGWSPLM LAALTGRLGV AQQLVEKGAN
260 270 280 290 300
PDHLSVLEKT AFEVALDCKH RDLVDYLDPL TTVRPKTDEE KRRPDIFHAL
310 320 330 340 350
KMGNFQLVKE IADEDPSHVN LVNGDGATPL MLAAVTGQLA LVQLLVERHA
360 370 380 390 400
DVDKQDSVHG WTALMQATYH GNKEIVKYLL NQGADVTLRA KNGYTAFDLV
410 420 430 440 450
MLLNDPDTEL VRLLASVCMQ VNKDKGRPSH QPPLPHSKVR QPWSIPVLPD
460 470 480 490 500
DKGGLKSWWN RMSNRFRKLK LMQTLPRGLS SNQPLPFSDE PEPALDSTMR
510 520 530 540 550
AAPQDKTSRS ALPDAAPVTK DNGPGSTRGE KEDTLLTTML RNGAPLTRLP
560 570 580 590 600
SDKLKAVIPP FLPPSSFELW SSDRSRTRHN GKADPMKTAL PQRASRGHPV
610 620 630 640 650
GGGGTDTTPV RPVKFPSLPR SPASSANSGN FNHSPHSSGG SSGVGVSRHG
660 670 680 690 700
GELLNRSGGS IDNVLSQIAA QRKKAAGLLE QKPSHRSSPV GPAPGSSPSE
710 720 730 740 750
LPASPAGGSA PVGKKLETSK RPPSGTSTTS KSTSPTLTPS PSPKGHTAES
760 770 780 790 800
SVSSSSSHRQ SKSSGGSSSG TITDEDELTG ILKKLSLEKY QPIFEEQEVD
810 820 830 840 850
MEAFLTLTDG DLKELGIKTD GSRQQILAAI SELNAGKGRE RQILQETIHN
860 870
FHSSFESSAS NTRAPGNSPC A
Length:871
Mass (Da):92,219
Last modified:December 6, 2005 - 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:iC4E3AFFE9C9DD6C8
GO
Isoform 2 (identifier: Q68DC2-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     288-335: DEEKRRPDIF...GATPLMLAAV → GQAACPPWLH...RPLRLRKWCA
     336-871: Missing.

Note: Gene prediction confirmed by EST data.
Show »
Length:335
Mass (Da):35,392
Checksum:i88570D12C8D0A758
GO
Isoform 3 (identifier: Q68DC2-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     714-714: K → KQ

Note: No experimental confirmation available.
Show »
Length:872
Mass (Da):92,347
Checksum:iAA7F61B02CE2427C
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
A0A0A0MRS7A0A0A0MRS7_HUMAN
Ankyrin repeat and SAM domain-conta...
ANKS6
584Annotation 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>
H7C163H7C163_HUMAN
Ankyrin repeat and SAM domain-conta...
ANKS6
341Annotation 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 AAH64367 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence BAC04317 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence CAH18298 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 conflicti244L → P in CAH18298 (PubMed:17974005).Curated1
Sequence conflicti402L → P in CAH18302 (PubMed:15489334).Curated1
Sequence conflicti647S → G in BAC04317 (PubMed:14702039).Curated1
Sequence conflicti808T → A in CAH18302 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_070105222R → W1 PublicationCorresponds to variant dbSNP:rs41283630EnsemblClinVar.1
Natural variantiVAR_070106312A → P in NPHP16. 1 Publication1
Natural variantiVAR_070107440R → Q1 PublicationCorresponds to variant dbSNP:rs763855876Ensembl.1
Natural variantiVAR_070108441Q → R in NPHP16. Corresponds to variant dbSNP:rs377750405EnsemblClinVar.1
Natural variantiVAR_070109640G → S1 PublicationCorresponds to variant dbSNP:rs749102463Ensembl.1
Natural variantiVAR_034794644V → I4 PublicationsCorresponds to variant dbSNP:rs6415847EnsemblClinVar.1
Natural variantiVAR_070110735P → A1 PublicationCorresponds to variant dbSNP:rs79414550EnsemblClinVar.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_016496288 – 335DEEKR…MLAAV → GQAACPPWLHRGPQIVFMWL KLRIALLEGHAELRVQPCRP LRLRKWCA in isoform 2. CuratedAdd BLAST48
Alternative sequenceiVSP_016497336 – 871Missing in isoform 2. CuratedAdd BLAST536
Alternative sequenceiVSP_016498714K → KQ in isoform 3. 1 Publication1

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
DQ309791
, DQ309777, DQ309778, DQ309779, DQ309780, DQ309781, DQ309782, DQ309783, DQ309784, DQ309785, DQ309786, DQ309787, DQ309788, DQ309789, DQ309790 Genomic DNA Translation: ABC48694.1
AL353782 Genomic DNA No translation available.
AL807776 Genomic DNA No translation available.
CR749467 mRNA Translation: CAH18298.1 Different initiation.
CR749472 mRNA Translation: CAH18302.1
BC064367 mRNA Translation: AAH64367.1 Different initiation.
AK094247 mRNA Translation: BAC04317.1 Different initiation.

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS43856.1 [Q68DC2-1]

NCBI Reference Sequences

More...
RefSeqi
NP_775822.3, NM_173551.4 [Q68DC2-1]
XP_006717061.1, XM_006716998.3 [Q68DC2-4]
XP_016869934.1, XM_017014445.1 [Q68DC2-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000353234; ENSP00000297837; ENSG00000165138 [Q68DC2-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
203286

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:203286

UCSC genome browser

More...
UCSCi
uc004ayu.4 human [Q68DC2-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<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
DQ309791
, DQ309777, DQ309778, DQ309779, DQ309780, DQ309781, DQ309782, DQ309783, DQ309784, DQ309785, DQ309786, DQ309787, DQ309788, DQ309789, DQ309790 Genomic DNA Translation: ABC48694.1
AL353782 Genomic DNA No translation available.
AL807776 Genomic DNA No translation available.
CR749467 mRNA Translation: CAH18298.1 Different initiation.
CR749472 mRNA Translation: CAH18302.1
BC064367 mRNA Translation: AAH64367.1 Different initiation.
AK094247 mRNA Translation: BAC04317.1 Different initiation.
CCDSiCCDS43856.1 [Q68DC2-1]
RefSeqiNP_775822.3, NM_173551.4 [Q68DC2-1]
XP_006717061.1, XM_006716998.3 [Q68DC2-4]
XP_016869934.1, XM_017014445.1 [Q68DC2-1]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...
PDBei

Protein Data Bank RCSB

More...
RCSB PDBi

Protein Data Bank Japan

More...
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4NL9X-ray1.50C/D771-840[»]
SMRiQ68DC2
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGridi128464, 16 interactors
CORUMiQ68DC2
IntActiQ68DC2, 15 interactors
MINTiQ68DC2
STRINGi9606.ENSP00000297837

PTM databases

iPTMnetiQ68DC2
PhosphoSitePlusiQ68DC2

Polymorphism and mutation databases

BioMutaiANKS6
DMDMi83305683

Proteomic databases

EPDiQ68DC2
jPOSTiQ68DC2
MassIVEiQ68DC2
MaxQBiQ68DC2
PaxDbiQ68DC2
PeptideAtlasiQ68DC2
PRIDEiQ68DC2
ProteomicsDBi66071 [Q68DC2-1]
66072 [Q68DC2-3]
66073 [Q68DC2-4]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
203286

Genome annotation databases

EnsembliENST00000353234; ENSP00000297837; ENSG00000165138 [Q68DC2-1]
GeneIDi203286
KEGGihsa:203286
UCSCiuc004ayu.4 human [Q68DC2-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
203286
DisGeNETi203286

GeneCards: human genes, protein and diseases

More...
GeneCardsi
ANKS6
GeneReviewsiANKS6
HGNCiHGNC:26724 ANKS6
HPAiHPA008355
MalaCardsiANKS6
MIMi615370 gene
615382 phenotype
neXtProtiNX_Q68DC2
OpenTargetsiENSG00000165138
Orphaneti93591 Infantile nephronophthisis
93592 Juvenile nephronophthisis
PharmGKBiPA134931829

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0504 Eukaryota
KOG4374 Eukaryota
COG0666 LUCA
GeneTreeiENSGT00940000157664
InParanoidiQ68DC2
KOiK21415
OMAiFCDEPEP
OrthoDBi1137424at2759
PhylomeDBiQ68DC2
TreeFamiTF328552

Miscellaneous databases

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

More...
ChiTaRSi
ANKS6 human

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

More...
GenomeRNAii
203286
PharosiQ68DC2

Protein Ontology

More...
PROi
PR:Q68DC2

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000165138 Expressed in 156 organ(s), highest expression level in right hemisphere of cerebellum
ExpressionAtlasiQ68DC2 baseline and differential
GenevisibleiQ68DC2 HS

Family and domain databases

Gene3Di1.10.150.50, 1 hit
1.25.40.20, 2 hits
InterProiView protein in InterPro
IPR002110 Ankyrin_rpt
IPR020683 Ankyrin_rpt-contain_dom
IPR036770 Ankyrin_rpt-contain_sf
IPR001660 SAM
IPR013761 SAM/pointed_sf
PfamiView protein in Pfam
PF12796 Ank_2, 3 hits
PF00536 SAM_1, 1 hit
PRINTSiPR01415 ANKYRIN
SMARTiView protein in SMART
SM00248 ANK, 9 hits
SM00454 SAM, 1 hit
SUPFAMiSSF47769 SSF47769, 1 hit
SSF48403 SSF48403, 2 hits
PROSITEiView protein in PROSITE
PS50297 ANK_REP_REGION, 1 hit
PS50088 ANK_REPEAT, 7 hits
PS50105 SAM_DOMAIN, 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 nameiANKS6_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: Q68DC2
Secondary accession number(s): A0SE62
, Q5VSL0, Q5VSL2, Q5VSL3, Q5VSL4, Q68DB8, Q6P2R2, Q8N9L6, Q96D62
<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 6, 2005
Last sequence update: December 6, 2005
Last modified: October 16, 2019
This is version 148 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
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