Human Gene PCM1 (uc003wyi.4) Description and Page Index
Description: Homo sapiens pericentriolar material 1 (PCM1), mRNA. RefSeq Summary (NM_006197): The protein encoded by this gene is a component of centriolar satellites, which are electron dense granules scattered around centrosomes. Inhibition studies show that this protein is essential for the correct localization of several centrosomal proteins, and for anchoring microtubules to the centrosome. Chromosomal aberrations involving this gene are associated with papillary thyroid carcinomas and a variety of hematological malignancies, including atypical chronic myeloid leukemia and T-cell lymphoma. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]. Transcript (Including UTRs) Position: hg19 chr8:17,780,366-17,887,457 Size: 107,092 Total Exon Count: 39 Strand: + Coding Region Position: hg19 chr8:17,793,120-17,885,171 Size: 92,052 Coding Exon Count: 37
ID:PCM1_HUMAN DESCRIPTION: RecName: Full=Pericentriolar material 1 protein; Short=PCM-1; Short=hPCM-1; FUNCTION: Required for centrosome assembly and function. Essential for the correct localization of several centrosomal proteins including CEP250, CETN3, PCNT and NEK2. Required to anchor microtubules to the centrosome. Involved in the biogenesis of cilia. SUBUNIT: Self-associates (By similarity). Interacts with BBS4, BBS8, CETN3, HAP1, NDE1 and NDEL1. INTERACTION: Q8NFJ9:BBS1; NbExp=2; IntAct=EBI-741421, EBI-1805484; Q96RK4:BBS4; NbExp=16; IntAct=EBI-741421, EBI-1805814; SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton. Cytoplasm, cytoskeleton, centrosome. Cytoplasmic granule. Note=Localizes to cytoplasmic granules which are enriched around the centrosome. This centrosomal enrichment requires microtubules and dynein. The majority of the protein dissociates from the centrosome during metaphase and subsequently localizes to the cleavage site in telophase. TISSUE SPECIFICITY: Expressed in blood, bone marrow, breast, lymph node, ovary and thyroid. INDUCTION: Expression is reduced in breast and ovarian cancer. PTM: Phosphorylated upon DNA damage, probably by ATM or ATR. DISEASE: Defects in PCM1 are a cause of thyroid papillary carcinoma (TPC) [MIM:188550]. TPC is a common tumor of the thyroid that typically arises as an irregular, solid or cystic mass from otherwise normal thyroid tissue. Papillary carcinomas are malignant neoplasm characterized by the formation of numerous, irregular, finger-like projections of fibrous stroma that is covered with a surface layer of neoplastic epithelial cells. Note=A chromosomal aberration involving PCM1 is found in thyroid papillary carcinomas. Translocation t(8;10)(p21.3;q11.2) with RET links the protein kinase domain of RET to the major portion of PCM1. DISEASE: Note=A chromosomal aberration involving PCM1 is found in a variety of hematological malignancies including atypical chronic myeloid leukemia (atypical CML) and T-cell lymphoma. Translocation t(8;9)(p22;p24) with JAK2 links the protein kinase domain of JAK2 to the major portion of PCM1. SIMILARITY: Belongs to the PCM1 family. SEQUENCE CAUTION: Sequence=AAH27477.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence; Sequence=AAH65022.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence; Sequence=BAC03656.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=CAC14882.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence;
Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): PCM1 CDC HuGE Published Literature: PCM1 Positive Disease Associations: schizophrenia Related Studies:
schizophrenia Gurling, H. M. et al. 2006, Genetic Association and Brain Morphology Studies and the Chromosome 8p22 Pericentriolar Material 1 (PCM1) Gene in Susceptibility to Schizophrenia, Arch Gen Psychiatry 2006 63(8) 844-854.
The PCM1 gene is implicated in susceptibility to schizophrenia and is associated with orbitofrontal gray matter volumetric deficits.
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.
Pfam Domains: PF15717 - Pericentriolar material 1 C terminus
ModBase Predicted Comparative 3D Structure on Q15154
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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.