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 144 (13 Nov 2019)
Sequence version 2 (04 Apr 2006)
Previous versions | rss
Help videoAdd a publicationFeedback
Protein

POC1 centriolar protein homolog A

Gene

POC1A

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

Plays an important role in centriole assembly and/or stability and ciliogenesis. Involved in early steps of centriole duplication, as well as in the later steps of centriole length control. Acts in concert with POC1B to ensure centriole integrity and proper mitotic spindle formation.2 Publications

<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

<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

Biological processCilium biogenesis/degradation

Enzyme and pathway databases

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...
SignaLinki
Q8NBT0

<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:
POC1 centriolar protein homolog A
Alternative name(s):
Pix2
Proteome of centriole protein 1A
WD repeat-containing protein 51A
<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:POC1A
Synonyms:WDR51A
<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 3

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:24488 POC1A

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
614783 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q8NBT0

<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

Cell projection, 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

Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis (SOFT)2 Publications
The disease is caused by mutations affecting the gene represented in this entry. Cells derived from affected individuals have abnormal mitotic mechanics with multipolar spindles, in addition to clearly impaired ciliogenesis.
Disease descriptionA syndrome characterized by severely short long bones, peculiar facies associated with paucity of hair, and nail anomalies. Growth retardation is evident on prenatal ultrasound as early as the second trimester of pregnancy, and affected individuals reach a final stature consistent with a height age of 6 years to 8 years. Relative macrocephaly is present during early childhood but head circumference is markedly low by adulthood. Psychomotor development is normal. Facial dysmorphism includes a long, triangular face with prominent nose and small ears, and affected individuals have an unusual high-pitched voice. Clinodactyly, brachydactyly, and hypoplastic distal phalanges and fingernails are present in association with postpubertal sparse and short hair. Typical skeletal findings include short and thick long bones with mild irregular metaphyseal changes, short femoral necks, and hypoplastic pelvis and sacrum. All long bones of the hand are short, with major delay of carpal ossification and cone-shaped epiphyses. Vertebral body ossification is also delayed.
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_068884171L → P in SOFT. 1 PublicationCorresponds to variant dbSNP:rs397514488EnsemblClinVar.1

Keywords - Diseasei

Ciliopathy, Disease mutation, Dwarfism, Hypotrichosis

Organism-specific databases

DisGeNET

More...
DisGeNETi
25886

MalaCards human disease database

More...
MalaCardsi
POC1A
MIMi614813 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000164087

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

More...
Orphaneti
314394 Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA165698089

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q8NBT0

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
POC1A

Domain mapping of disease mutations (DMDM)

More...
DMDMi
91207986

<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_00002315221 – 407POC1 centriolar protein homolog AAdd BLAST407

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q8NBT0

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q8NBT0

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q8NBT0

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q8NBT0

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

More...
PaxDbi
Q8NBT0

PeptideAtlas

More...
PeptideAtlasi
Q8NBT0

PRoteomics IDEntifications database

More...
PRIDEi
Q8NBT0

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
20074
72818 [Q8NBT0-1]
72819 [Q8NBT0-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q8NBT0

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

More...
PhosphoSitePlusi
Q8NBT0

<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
ENSG00000164087 Expressed in 109 organ(s), highest expression level in right testis

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q8NBT0 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA040600

<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

Interacts with POC1B.

1 Publication

<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

WithEntry#Exp.IntActNotes
Q9Y2662EBI-2557132,EBI-357298

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
117397, 106 interactors

Protein interaction database and analysis system

More...
IntActi
Q8NBT0, 95 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000296484

<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
Q8NBT0

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>Repeati17 – 56WD 1Add BLAST40
Repeati59 – 98WD 2Add BLAST40
Repeati101 – 140WD 3Add BLAST40
Repeati143 – 182WD 4Add BLAST40
Repeati185 – 224WD 5Add BLAST40
Repeati227 – 266WD 6Add BLAST40
Repeati269 – 308WD 7Add BLAST40

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and domains’ section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili369 – 397Sequence analysisAdd BLAST29

<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 WD repeat POC1 family.Curated

Keywords - Domaini

Coiled coil, Repeat, WD repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IF90 Eukaryota
ENOG410XR4H LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000157494

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000036743

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q8NBT0

KEGG Orthology (KO)

More...
KOi
K16482

Identification of Orthologs from Complete Genome Data

More...
OMAi
HGSFVTY

Database of Orthologous Groups

More...
OrthoDBi
1196215at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q8NBT0

TreeFam database of animal gene trees

More...
TreeFami
TF324210

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
2.130.10.10, 4 hits

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR020472 G-protein_beta_WD-40_rep
IPR015943 WD40/YVTN_repeat-like_dom_sf
IPR001680 WD40_repeat
IPR019775 WD40_repeat_CS
IPR017986 WD40_repeat_dom
IPR036322 WD40_repeat_dom_sf

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00400 WD40, 7 hits

Protein Motif fingerprint database; a protein domain database

More...
PRINTSi
PR00320 GPROTEINBRPT

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00320 WD40, 7 hits

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF50978 SSF50978, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00678 WD_REPEATS_1, 1 hit
PS50082 WD_REPEATS_2, 7 hits
PS50294 WD_REPEATS_REGION, 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
Isoform 1 (identifier: Q8NBT0-1) [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
MAAPCAEDPS LERHFKGHRD AVTCVDFSIN TKQLASGSMD SCLMVWHMKP
60 70 80 90 100
QSRAYRFTGH KDAVTCVNFS PSGHLLASGS RDKTVRIWVP NVKGESTVFR
110 120 130 140 150
AHTATVRSVH FCSDGQSFVT ASDDKTVKVW ATHRQKFLFS LSQHINWVRC
160 170 180 190 200
AKFSPDGRLI VSASDDKTVK LWDKSSRECV HSYCEHGGFV TYVDFHPSGT
210 220 230 240 250
CIAAAGMDNT VKVWDVRTHR LLQHYQLHSA AVNGLSFHPS GNYLITASSD
260 270 280 290 300
STLKILDLME GRLLYTLHGH QGPATTVAFS RTGEYFASGG SDEQVMVWKS
310 320 330 340 350
NFDIVDHGEV TKVPRPPATL ASSMGNLPEV DFPVPPGRGR SVESVQSQPQ
360 370 380 390 400
EPVSVPQTLT STLEHIVGQL DVLTQTVSIL EQRLTLTEDK LKQCLENQQL

IMQRATP
Length:407
Mass (Da):45,009
Last modified:April 4, 2006 - 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:iA5BF28F024DCCC98
GO
Isoform 2 (identifier: Q8NBT0-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     328-375: Missing.

Note: No experimental confirmation available.
Show »
Length:359
Mass (Da):39,847
Checksum:iBB89016A021611C0
GO
Isoform 3 (identifier: Q8NBT0-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-38: Missing.

Note: No experimental confirmation available.
Show »
Length:369
Mass (Da):40,936
Checksum:iB4C01336033853E4
GO

<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 AAI19694 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated
The sequence CAB56021 differs from that shown. Reason: Erroneous initiation. Extended 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 conflicti219H → Y in BAC11525 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05762779G → S. Corresponds to variant dbSNP:rs35249554EnsemblClinVar.1
Natural variantiVAR_068884171L → P in SOFT. 1 PublicationCorresponds to variant dbSNP:rs397514488EnsemblClinVar.1
Natural variantiVAR_057628348Q → H. Corresponds to variant dbSNP:rs35898691EnsemblClinVar.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_0463981 – 38Missing in isoform 3. 1 PublicationAdd BLAST38
Alternative sequenceiVSP_017836328 – 375Missing in isoform 2. 2 PublicationsAdd BLAST48

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
AK075289 mRNA Translation: BAC11525.1
AC097637 Genomic DNA No translation available.
AC115284 Genomic DNA No translation available.
BC007417 mRNA Translation: AAH07417.2
BC110877 mRNA Translation: AAI10878.1
BC119692 mRNA Translation: AAI19693.1
BC119693 mRNA Translation: AAI19694.1 Different initiation.
AL117629 mRNA Translation: CAB56021.1 Different initiation.

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS2846.1 [Q8NBT0-1]
CCDS54591.1 [Q8NBT0-3]
CCDS54592.1 [Q8NBT0-2]

Protein sequence database of the Protein Information Resource

More...
PIRi
T17331

NCBI Reference Sequences

More...
RefSeqi
NP_001155052.1, NM_001161580.1 [Q8NBT0-2]
NP_001155053.1, NM_001161581.1 [Q8NBT0-3]
NP_056241.3, NM_015426.4 [Q8NBT0-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000296484; ENSP00000296484; ENSG00000164087 [Q8NBT0-1]
ENST00000394970; ENSP00000378421; ENSG00000164087 [Q8NBT0-2]
ENST00000474012; ENSP00000418968; ENSG00000164087 [Q8NBT0-3]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
25886

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:25886

UCSC genome browser

More...
UCSCi
uc003dcu.4 human [Q8NBT0-1]

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
AK075289 mRNA Translation: BAC11525.1
AC097637 Genomic DNA No translation available.
AC115284 Genomic DNA No translation available.
BC007417 mRNA Translation: AAH07417.2
BC110877 mRNA Translation: AAI10878.1
BC119692 mRNA Translation: AAI19693.1
BC119693 mRNA Translation: AAI19694.1 Different initiation.
AL117629 mRNA Translation: CAB56021.1 Different initiation.
CCDSiCCDS2846.1 [Q8NBT0-1]
CCDS54591.1 [Q8NBT0-3]
CCDS54592.1 [Q8NBT0-2]
PIRiT17331
RefSeqiNP_001155052.1, NM_001161580.1 [Q8NBT0-2]
NP_001155053.1, NM_001161581.1 [Q8NBT0-3]
NP_056241.3, NM_015426.4 [Q8NBT0-1]

3D structure databases

SMRiQ8NBT0
ModBaseiSearch...

Protein-protein interaction databases

BioGridi117397, 106 interactors
IntActiQ8NBT0, 95 interactors
STRINGi9606.ENSP00000296484

PTM databases

iPTMnetiQ8NBT0
PhosphoSitePlusiQ8NBT0

Polymorphism and mutation databases

BioMutaiPOC1A
DMDMi91207986

Proteomic databases

EPDiQ8NBT0
jPOSTiQ8NBT0
MassIVEiQ8NBT0
MaxQBiQ8NBT0
PaxDbiQ8NBT0
PeptideAtlasiQ8NBT0
PRIDEiQ8NBT0
ProteomicsDBi20074
72818 [Q8NBT0-1]
72819 [Q8NBT0-2]

Genome annotation databases

EnsembliENST00000296484; ENSP00000296484; ENSG00000164087 [Q8NBT0-1]
ENST00000394970; ENSP00000378421; ENSG00000164087 [Q8NBT0-2]
ENST00000474012; ENSP00000418968; ENSG00000164087 [Q8NBT0-3]
GeneIDi25886
KEGGihsa:25886
UCSCiuc003dcu.4 human [Q8NBT0-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
25886
DisGeNETi25886

GeneCards: human genes, protein and diseases

More...
GeneCardsi
POC1A
HGNCiHGNC:24488 POC1A
HPAiHPA040600
MalaCardsiPOC1A
MIMi614783 gene
614813 phenotype
neXtProtiNX_Q8NBT0
OpenTargetsiENSG00000164087
Orphaneti314394 Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome
PharmGKBiPA165698089

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IF90 Eukaryota
ENOG410XR4H LUCA
GeneTreeiENSGT00940000157494
HOGENOMiHOG000036743
InParanoidiQ8NBT0
KOiK16482
OMAiHGSFVTY
OrthoDBi1196215at2759
PhylomeDBiQ8NBT0
TreeFamiTF324210

Enzyme and pathway databases

SignaLinkiQ8NBT0

Miscellaneous databases

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

More...
ChiTaRSi
POC1A human

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

More...
GenomeRNAii
25886
PharosiQ8NBT0

Protein Ontology

More...
PROi
PR:Q8NBT0

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000164087 Expressed in 109 organ(s), highest expression level in right testis
GenevisibleiQ8NBT0 HS

Family and domain databases

Gene3Di2.130.10.10, 4 hits
InterProiView protein in InterPro
IPR020472 G-protein_beta_WD-40_rep
IPR015943 WD40/YVTN_repeat-like_dom_sf
IPR001680 WD40_repeat
IPR019775 WD40_repeat_CS
IPR017986 WD40_repeat_dom
IPR036322 WD40_repeat_dom_sf
PfamiView protein in Pfam
PF00400 WD40, 7 hits
PRINTSiPR00320 GPROTEINBRPT
SMARTiView protein in SMART
SM00320 WD40, 7 hits
SUPFAMiSSF50978 SSF50978, 1 hit
PROSITEiView protein in PROSITE
PS00678 WD_REPEATS_1, 1 hit
PS50082 WD_REPEATS_2, 7 hits
PS50294 WD_REPEATS_REGION, 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 nameiPOC1A_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: Q8NBT0
Secondary accession number(s): A4FUW4
, E9PFC6, Q0VDF8, Q2TAK6, Q96IK6, Q9UFJ8
<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: April 4, 2006
Last sequence update: April 4, 2006
Last modified: November 13, 2019
This is version 144 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 3
    Human chromosome 3: 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
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