Human Gene POC1A (ENST00000394970.6) from GENCODE V44
Description: Homo sapiens POC1 centriolar protein A (POC1A), transcript variant 2, mRNA. (from RefSeq NM_001161580) RefSeq Summary (NM_001161580): 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]. Gencode Transcript: ENST00000394970.6 Gencode Gene: ENSG00000164087.8 Transcript (Including UTRs) Position: hg38 chr3:52,075,286-52,154,690 Size: 79,405 Total Exon Count: 10 Strand: - Coding Region Position: hg38 chr3:52,075,887-52,154,372 Size: 78,486 Coding Exon Count: 10
ID:POC1A_HUMAN DESCRIPTION: RecName: Full=POC1 centriolar protein homolog A; AltName: Full=Pix2; AltName: Full=WD repeat-containing protein 51A; FUNCTION: Involved in early steps of centriole duplication, as well as in the later steps of centriole length control. Required for ciliogenesis. SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, centrosome, centriole. Cytoplasm, cytoskeleton, cilium basal body. Note=Component of both mother and daughter centrioles. DISEASE: Defects in POC1A are the cause of 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. Note=Cells derived from affected individuals have abnormal mitotic mechanics with multipolar spindles, in addition to clearly impaired ciliogenesis. SIMILARITY: Belongs to the WD repeat POC1 family. SIMILARITY: Contains 7 WD repeats. SEQUENCE CAUTION: Sequence=CAB56021.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q8NBT0
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.