POC1A
entrez
25886
canonical
uniprot
Q8NBT0
canonical
ensembl
ENSG00000164087
resolver
ensp
ENSP00000296484
resolver
ensp
ENSP00000378421
resolver
ensp
ENSP00000418968
resolver
ensp
ENSP00000609808
resolver
ensp
ENSP00000662379
resolver
ensp
ENSP00000698272
resolver
ensp
ENSP00000698273
resolver
ensp
ENSP00000728413
resolver
genesymbol
POC1A
resolver
genesymbol_syn
WDR51A
resolver
hgnc
HGNC:24488
resolver
uniprot
A4FUW4
resolver
uniprot
E9PFC6
resolver
uniprot
Q0VDF8
resolver
uniprot
Q2TAK6
resolver
uniprot
Q96IK6
resolver
uniprot
Q9UFJ8
resolver
uniprot_entry
POC1A_HUMAN
resolver
uniprot_sec
A4FUW4
resolver
uniprot_sec
E9PFC6
resolver
uniprot_sec
Q0VDF8
resolver
uniprot_sec
Q2TAK6
resolver
uniprot_sec
Q96IK6
resolver
uniprot_sec
Q9UFJ8
resolver
amino_acid_sequence
MAAPCAEDPSLERHFKGHRDAVTCVDFSINTKQLASGSMDSCLMVWHMKPQSRAYRFTGHKDAVTCVNFSPSGHLLASGSRDKTVRIWVPNVKGESTVFRAHTATVRSVHFCSDGQSFVTASDDKTVKVWATHRQKFLFSLSQHINWVRCAKFSPDGRLIVSASDDKTVKLWDKSSRECVHSYCEHGGFVTYVDFHPSGTCIAAAGMDNTVKVWDVRTHRLLQHYQLHSAAVNGLSFHPSGNYLITASSDSTLKILDLMEGRLLYTLHGHQGPATTVAFSRTGEYFASGGSDEQVMVWKSNFDIVDHGEVTKVPRPPATLASSMGNLPEVDFPVPPGRGRSVESVQSQPQEPVSVPQTLTSTLEHIVGQLDVLTQTVSILEQRLTLTEDKLKQCLENQQLIMQRATP
uniprot
proteins
disease_involvement
DISEASE: Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis (SOFT) [MIM:614813]: A 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. {ECO:0000269|PubMed:22840363, ECO:0000269|PubMed:22840364}. Note=The disease is caused by variants 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.
uniprot
proteins
function
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. {ECO:0000269|PubMed:19109428, ECO:0000269|PubMed:23015594}.
uniprot
proteins
mass_dalton
45009
uniprot
proteins
protein_family
WD repeat POC1 family
uniprot
proteins
pubmed
14654843
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16641997
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18068700
uniprot
proteins
pubmed
19109428
uniprot
proteins
pubmed
20008567
uniprot
proteins
pubmed
22840363
uniprot
proteins
pubmed
22840364
uniprot
proteins
pubmed
23015594
uniprot
proteins
sequence_length
407
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:14654843}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole. Cytoplasm, cytoskeleton, cilium basal body. Cytoplasm, cytoskeleton, spindle pole. Note=Component of both mother and daughter centrioles.
uniprot
proteins