| UniProt Protein Function: | WDR51A: 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 this gene result in short stature, onychodysplasia, facial dysmorphism, and hypotrichosis (SOFT) syndrome. [provided by RefSeq, Sep 2012] |
| UniProt Protein Details: | Chromosomal Location of Human Ortholog: 3p21.2 Cellular Component: centriole; centrosome; spindle pole Molecular Function:protein binding Disease: Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
| NCBI 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 this gene result in short stature, onychodysplasia, facial dysmorphism, and hypotrichosis (SOFT) syndrome. [provided by RefSeq, Sep 2012] |
| UniProt Code: | Q8NBT0 |
| NCBI GenInfo Identifier: | 91207986 |
| NCBI Gene ID: | 25886 |
| NCBI Accession: | Q8NBT0.2 |
| UniProt Secondary Accession: | Q8NBT0,Q0VDF8, Q2TAK6, Q96IK6, Q9UFJ8, A4FUW4, E9PFC6 |
| UniProt Related Accession: | Q8NBT0 |
| Molecular Weight: | 40,936 Da |
| NCBI Full Name: | POC1 centriolar protein homolog A |
| NCBI Synonym Full Names: | POC1 centriolar protein A |
| NCBI Official Symbol: | POC1A |
| NCBI Official Synonym Symbols: | PIX2; SOFT; WDR51A |
| NCBI Protein Information: | POC1 centriolar protein homolog A |
| UniProt Protein Name: | POC1 centriolar protein homolog A |
| UniProt Synonym Protein Names: | Pix2; Proteome of centriole protein 1A; WD repeat-containing protein 51A |
| Protein Family: | POC1 centriolar protein |
| UniProt Gene Name: | POC1A |
| UniProt Entry Name: | POC1A_HUMAN |
