UniProtKB - Q8NBT0 (POC1A_HUMAN)
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Protein
POC1 centriolar protein homolog A
Gene
POC1A
Organism
Homo sapiens (Human)
Status
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
- growth plate cartilage chondrocyte development Source: Ensembl
- mitotic spindle organization Source: Ensembl
- non-motile cilium assembly Source: Ensembl
- positive regulation of centrosome duplication Source: Ensembl
- spermatogenesis Source: Ensembl
Keywordsi
Biological process | Cilium biogenesis/degradation |
Enzyme and pathway databases
SignaLinki | Q8NBT0. |
Names & Taxonomyi
Protein namesi | Recommended name: POC1 centriolar protein homolog AAlternative name(s): Pix2 Proteome of centriole protein 1A WD repeat-containing protein 51A |
Gene namesi | Name:POC1A Synonyms:WDR51A |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000164087.7. |
HGNCi | HGNC:24488. POC1A. |
MIMi | 614783. gene. |
neXtProti | NX_Q8NBT0. |
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:614813Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_068884 | 171 | L → P in SOFT. 1 PublicationCorresponds to variant dbSNP:rs397514488Ensembl. | 1 |
Keywords - Diseasei
Ciliopathy, Disease mutation, Dwarfism, HypotrichosisOrganism-specific databases
DisGeNETi | 25886. |
MalaCardsi | POC1A. |
MIMi | 614813. phenotype. |
OpenTargetsi | ENSG00000164087. |
Orphaneti | 314394. Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome. |
PharmGKBi | PA165698089. |
Polymorphism and mutation databases
BioMutai | POC1A. |
DMDMi | 91207986. |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000231522 | 1 – 407 | POC1 centriolar protein homolog AAdd BLAST | 407 |
Proteomic databases
EPDi | Q8NBT0. |
MaxQBi | Q8NBT0. |
PaxDbi | Q8NBT0. |
PeptideAtlasi | Q8NBT0. |
PRIDEi | Q8NBT0. |
PTM databases
iPTMneti | Q8NBT0. |
PhosphoSitePlusi | Q8NBT0. |
Expressioni
Gene expression databases
Bgeei | ENSG00000164087. |
CleanExi | HS_WDR51A. |
Genevisiblei | Q8NBT0. HS. |
Organism-specific databases
HPAi | HPA040600. |
Interactioni
Subunit structurei
Interacts with POC1B.1 Publication
Binary interactionsi
With | Entry | #Exp. | IntAct | Notes |
---|---|---|---|---|
NUDC | Q9Y266 | 2 | EBI-2557132,EBI-357298 |
Protein-protein interaction databases
BioGridi | 117397. 106 interactors. |
IntActi | Q8NBT0. 79 interactors. |
STRINGi | 9606.ENSP00000296484. |
Structurei
3D structure databases
ProteinModelPortali | Q8NBT0. |
SMRi | Q8NBT0. |
ModBasei | Search... |
MobiDBi | Search... |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Repeati | 17 – 56 | WD 1Add BLAST | 40 | |
Repeati | 59 – 98 | WD 2Add BLAST | 40 | |
Repeati | 101 – 140 | WD 3Add BLAST | 40 | |
Repeati | 143 – 182 | WD 4Add BLAST | 40 | |
Repeati | 185 – 224 | WD 5Add BLAST | 40 | |
Repeati | 227 – 266 | WD 6Add BLAST | 40 | |
Repeati | 269 – 308 | WD 7Add BLAST | 40 |
Coiled coil
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Coiled coili | 369 – 397 | Sequence analysisAdd BLAST | 29 |
Sequence similaritiesi
Belongs to the WD repeat POC1 family.Curated
Keywords - Domaini
Coiled coil, Repeat, WD repeatPhylogenomic databases
eggNOGi | ENOG410IF90. Eukaryota. ENOG410XR4H. LUCA. |
GeneTreei | ENSGT00810000125363. |
HOGENOMi | HOG000036743. |
HOVERGENi | HBG057502. |
InParanoidi | Q8NBT0. |
KOi | K16482. |
OMAi | CLENQQL. |
OrthoDBi | EOG091G07ES. |
PhylomeDBi | Q8NBT0. |
TreeFami | TF324210. |
Family and domain databases
Gene3Di | 2.130.10.10. 4 hits. |
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. |
Pfami | View protein in Pfam PF00400. WD40. 7 hits. |
PRINTSi | PR00320. GPROTEINBRPT. |
SMARTi | View protein in SMART SM00320. WD40. 7 hits. |
SUPFAMi | SSF50978. SSF50978. 1 hit. |
PROSITEi | View protein in PROSITE PS00678. WD_REPEATS_1. 1 hit. PS50082. WD_REPEATS_2. 7 hits. PS50294. WD_REPEATS_REGION. 1 hit. |
s (3)i Sequence
Sequence statusi: Complete.
This entry describes 3 produced by isoformsialternative 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.
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
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 key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 219 | H → Y in BAC11525 (PubMed:14702039).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_057627 | 79 | G → S. Corresponds to variant dbSNP:rs35249554Ensembl. | 1 | |
Natural variantiVAR_068884 | 171 | L → P in SOFT. 1 PublicationCorresponds to variant dbSNP:rs397514488Ensembl. | 1 | |
Natural variantiVAR_057628 | 348 | Q → H. Corresponds to variant dbSNP:rs35898691Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_046398 | 1 – 38 | Missing in isoform 3. 1 PublicationAdd BLAST | 38 | |
Alternative sequenceiVSP_017836 | 328 – 375 | Missing in isoform 2. 2 PublicationsAdd BLAST | 48 |
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. |
CCDSi | CCDS2846.1. [Q8NBT0-1] CCDS54591.1. [Q8NBT0-3] CCDS54592.1. [Q8NBT0-2] |
PIRi | T17331. |
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] |
UniGenei | Hs.476306. |
Genome annotation databases
Ensembli | ENST00000296484; ENSP00000296484; ENSG00000164087. [Q8NBT0-1] ENST00000394970; ENSP00000378421; ENSG00000164087. [Q8NBT0-2] ENST00000474012; ENSP00000418968; ENSG00000164087. [Q8NBT0-3] |
GeneIDi | 25886. |
KEGGi | hsa:25886. |
UCSCi | uc003dcu.4. human. [Q8NBT0-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
Entry informationi
Entry namei | POC1A_HUMAN | |
Accessioni | Q8NBT0Primary (citable) accession number: Q8NBT0 Secondary accession number(s): A4FUW4 Q9UFJ8 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | April 4, 2006 |
Last sequence update: | April 4, 2006 | |
Last modified: | March 28, 2018 | |
This is version 133 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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. |