InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: POC1A

Summary

InnateDB Protein

IDBP-240497.7

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

POC1A

Protein Name

POC1 centriolar protein homolog A (Chlamydomonas)

Synonyms

PIX2; SOFT; WDR51A;

Species

Homo sapiens

Ensembl Protein

ENSP00000378421

InnateDB Gene

IDBG-38203 (POC1A)

Protein Structure

UniProt Annotation

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:0000269PubMed:19109428, ECO:0000269PubMed:23015594}.

Subcellular Localization

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

Disease Associations

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:0000269PubMed:22840363, ECO:0000269PubMed:22840364}. Note=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.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 6 experimentally validated interaction(s) in this database.

Experimentally validated
Total	6 [view]
Protein-Protein	5 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding

Biological Process

GO:0030030

cell projection organization

Cellular Component

GO:0000922	spindle pole
GO:0005813	centrosome
GO:0005814	centriole
GO:0036064	ciliary basal body

Protein Structure and Domains

PDB ID

InterPro

IPR001680 WD40 repeat
IPR013979 Translation initiation factor, beta propellor-like domain
IPR017986 WD40-repeat-containing domain
IPR020472 G-protein beta WD-40 repeat

PFAM

PF00400
PF08662

PRINTS

PR00320

PIRSF

SMART

SM00320

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt