POC1A (POC1 centriolar protein A)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 25886
Gene name POC1 centriolar protein A
Gene symbol POC1A
Synonyms (NCBI Gene)
PIX2SOFTWDR51A
Chromosome 3
Chromosome location 3p21.2
Summary POC1 proteins contain an N-terminal WD40 domain and a C-terminal coiled coil domain and are part of centrosomes. They play an important role in basal body and cilia formation. This gene encodes one of the two POC1 proteins found in humans. Mutations in th
SNPs SNP information provided by dbSNP.
6
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (6)
SNP ID Visualize variation Clinical significance Consequence
rs112213336 C>G Likely-pathogenic Non coding transcript variant, missense variant, coding sequence variant
rs397514487 G>A Likely-pathogenic, pathogenic Non coding transcript variant, coding sequence variant, stop gained
rs397514488 A>G Pathogenic Missense variant, non coding transcript variant, coding sequence variant
rs772586602 AG>- Pathogenic Non coding transcript variant, coding sequence variant, intron variant, frameshift variant
rs866964603 C>T Likely-pathogenic Missense variant, non coding transcript variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
300
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (300)
miRTarBase ID miRNA Experiments Reference
MIRT724035 hsa-miR-1228-3p HITS-CLIP 19536157
MIRT724034 hsa-miR-874-5p HITS-CLIP 19536157
MIRT724033 hsa-miR-663b HITS-CLIP 19536157
MIRT724032 hsa-miR-7108-5p HITS-CLIP 19536157
MIRT666923 hsa-miR-5571-5p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
21
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (21)
GO ID Ontology Definition Evidence Reference
GO:0000922 Component Spindle pole IDA 23015594
GO:0000922 Component Spindle pole IEA
GO:0003431 Process Growth plate cartilage chondrocyte development IEA
GO:0005515 Function Protein binding IPI 23015594, 25036637, 26638075, 28514442, 32814053, 33961781
GO:0005737 Component Cytoplasm IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
614783 24488 ENSG00000164087
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8NBT0
Protein name POC1 centriolar protein homolog A (Pix2) (Proteome of centriole protein 1A) (WD repeat-containing protein 51A)
Protein function 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 integrit
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00400 WD40 9 → 47 WD domain, G-beta repeat Repeat
PF00400 WD40 51 → 89 WD domain, G-beta repeat Repeat
PF00400 WD40 94 → 130 WD domain, G-beta repeat Repeat
PF00400 WD40 135 → 173 WD domain, G-beta repeat Repeat
PF00400 WD40 177 → 215 WD domain, G-beta repeat Repeat
PF00400 WD40 261 → 299 WD domain, G-beta repeat Repeat
Sequence 
MAAPCAEDPSLERHFKGHRDAVTCVDFSINTKQLASGSMDSCLMVWHMKPQSRAYRFTGH
KDAVTCVNFSPSGHLLASGSRDKTVRIWVPNVKGESTVFRAHTATVRSVHFCSDGQSFVT
ASDDKTVKVWATHRQKFLFSLSQHINWVRCAKFSPDGRLIVSASDDKTVKLWDKSSRECV
HSYCEHGGFVTYVDFHPSGTCIAAAGMDNTVKVWDVRTHRLLQHYQLHSAAVNGLSFHPS
GNYLITASSDSTLKILDLMEGRLLYTLHGHQGPATTVAFSRTGEYFASGGSDEQVMVWKS
NFDIVDHGEVTKVPRPPATLASSMGNLPEVDFPVPPGRGRSVESVQSQPQEPVSVPQTLT
STLEHIVGQLDVLTQTVSILEQRLTLTEDKLKQCLENQQLIMQRATP
Sequence length 407
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
46
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (6)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Ateleiotic dwarfism Pathogenic rs397514487 RCV001838528
Cervical cancer Likely pathogenic rs146848374 RCV005928360
POC1A-related disorder Likely pathogenic rs2107090748 RCV003403757
POC1A-related syndrome Pathogenic rs1703818635, rs763709592 RCV001260581
RCV001260582
Show/Hide Unknown Diseases (5)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Hepatocellular carcinoma Benign rs138210707 RCV005909962
Lung cancer Benign rs138210707 RCV005909965
Microcephaly Uncertain significance rs200302303 RCV001252783
Sarcoma Benign rs138210707 RCV005909963
Show/Hide Text Mining Associations (21)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Alcohol Related Disorders Associate 34419044
Alopecia Associate 28819016
Cholangiocarcinoma Associate 33725402
Ciliopathies Associate 22840364
Congenital Abnormalities Associate 22840364
Dyslipidemias Associate 28819016
Facial Dysmorphism with Multiple Malformations Associate 22840363, 26336158, 28819016
Fatty Liver Associate 26336158
Growth Disorders Associate 22840363, 26336158, 28819016, 35234134
HEM dysplasia Associate 26336158