Recombinant Human POC1 centriolar protein homolog A (POC1A)

Uniprot Id

Q8NBT0

Target Species

Human

Target Name

POC1A

Target Full Name

POC1 centriolar protein homolog A

Target 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 integrity and proper mitotic spindle formation.

Target Involvement

Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis (SOFT)

Target Subcellular Location

Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole. Cytoplasm, cytoskeleton, cilium basal body. Cytoplasm, cytoskeleton, spindle pole. Note=Component of both mother and daughter centrioles.

Target Protein Families

WD repeat POC1 family

Target Synonyms

Pix2; POC1 centriolar protein homolog A (Chlamydomonas); POC1 centriolar protein homolog A; Poc1a; POC1A_HUMAN; WD repeat containing protein 51A; WD repeat domain 51A; WD repeat-containing protein 51A

Target Background

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.