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UniProtKB - Q8NBT0 (POC1A_HUMAN)

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Protein

POC1 centriolar protein homolog A

Gene

POC1A

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

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

GO - Biological processi

Complete GO annotation...

Keywordsi

Biological processCilium biogenesis/degradation

Enzyme and pathway databases

SignaLinkiQ8NBT0.

Names & Taxonomyi

Protein namesi
Recommended name:
POC1 centriolar protein homolog A
Alternative name(s):
Pix2
Proteome of centriole protein 1A
WD repeat-containing protein 51A
Gene namesi
Name:POC1A
Synonyms:WDR51A
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

HGNCiHGNC:24488. POC1A.

Subcellular locationi

GO - Cellular componenti

  • centriole Source: UniProtKB
  • centrosome Source: UniProtKB
  • ciliary basal body Source: UniProtKB
  • spindle pole Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cell projection, Cytoplasm, Cytoskeleton

Pathology & Biotechi

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.
See also OMIM:614813
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_068884171L → P in SOFT. 1 PublicationCorresponds to variant dbSNP:rs397514488Ensembl.1

Keywords - Diseasei

Ciliopathy, Disease mutation, Dwarfism, Hypotrichosis

Organism-specific databases

DisGeNETi25886.
MalaCardsiPOC1A.
MIMi614813. phenotype.
OpenTargetsiENSG00000164087.
Orphaneti314394. Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome.
PharmGKBiPA165698089.

Polymorphism and mutation databases

BioMutaiPOC1A.
DMDMi91207986.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002315221 – 407POC1 centriolar protein homolog AAdd BLAST407

Proteomic databases

EPDiQ8NBT0.
MaxQBiQ8NBT0.
PaxDbiQ8NBT0.
PeptideAtlasiQ8NBT0.
PRIDEiQ8NBT0.

PTM databases

iPTMnetiQ8NBT0.
PhosphoSitePlusiQ8NBT0.

Expressioni

Gene expression databases

BgeeiENSG00000164087.
CleanExiHS_WDR51A.
GenevisibleiQ8NBT0. HS.

Organism-specific databases

HPAiHPA040600.

Interactioni

Subunit structurei

Interacts with POC1B.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
NUDCQ9Y2662EBI-2557132,EBI-357298

Protein-protein interaction databases

BioGridi117397. 99 interactors.
IntActiQ8NBT0. 79 interactors.
STRINGi9606.ENSP00000296484.

Structurei

3D structure databases

ProteinModelPortaliQ8NBT0.
SMRiQ8NBT0.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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
Coiled coili369 – 397Sequence analysisAdd BLAST29

Sequence similaritiesi

Belongs to the WD repeat POC1 family.Curated

Keywords - Domaini

Coiled coil, Repeat, WD repeat

Phylogenomic databases

eggNOGiENOG410IF90. Eukaryota.
ENOG410XR4H. LUCA.
GeneTreeiENSGT00810000125363.
HOGENOMiHOG000036743.
HOVERGENiHBG057502.
InParanoidiQ8NBT0.
KOiK16482.
OMAiHQGPATT.
OrthoDBiEOG091G07ES.
PhylomeDBiQ8NBT0.
TreeFamiTF324210.

Family and domain databases

Gene3Di2.130.10.10. 2 hits.
InterProiView protein in InterPro
IPR020472. G-protein_beta_WD-40_rep.
IPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR019775. WD40_repeat_CS.
IPR017986. WD40_repeat_dom.
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.

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8NBT0-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' 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
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

Sequence cautioni

The sequence AAI19694 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence CAB56021 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti219H → Y in BAC11525 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05762779G → S. Corresponds to variant dbSNP:rs35249554Ensembl.1
Natural variantiVAR_068884171L → P in SOFT. 1 PublicationCorresponds to variant dbSNP:rs397514488Ensembl.1
Natural variantiVAR_057628348Q → H. Corresponds to variant dbSNP:rs35898691Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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:
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]
UniGeneiHs.476306.

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]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.

Entry informationi

Entry nameiPOC1A_HUMAN
AccessioniPrimary (citable) accession number: Q8NBT0
Secondary accession number(s): A4FUW4
, E9PFC6, Q0VDF8, Q2TAK6, Q96IK6, Q9UFJ8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 4, 2006
Last sequence update: April 4, 2006
Last modified: June 7, 2017
This is version 127 of the entry and version 2 of the sequence. See complete history.
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: 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. SIMILARITY comments
    Index of protein domains and families