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Protein

POC1 centriolar protein homolog A

Gene

POC1A

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

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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

EuPathDBiHostDB:ENSG00000164087.7
HGNCiHGNC:24488 POC1A
MIMi614783 gene
neXtProtiNX_Q8NBT0

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; Source: COMPARTMENTS

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
ProteomicsDBi72818
72819 [Q8NBT0-2]

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, 106 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
OMAiCLENQQL
OrthoDBiEOG091G07ES
PhylomeDBiQ8NBT0
TreeFamiTF324210

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

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:rs35898691EnsemblClinVar.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

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 20, 2018
This is version 134 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

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