Human Gene P2RY5 (uc010acu.1) Description and Page Index
Description: G-protein coupled purinergic receptor P2Y5 RefSeq Summary (NM_005767): The protein encoded by this gene belongs to the family of G-protein coupled receptors, that are preferentially activated by adenosine and uridine nucleotides. This gene aligns with an internal intron of the retinoblastoma susceptibility gene in the reverse orientation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2009]. Transcript (Including UTRs) Position: hg18 chr13:47,883,526-47,884,560 Size: 1,035 Total Exon Count: 1 Strand: - Coding Region Position: hg18 chr13:47,883,526-47,884,560 Size: 1,035 Coding Exon Count: 1
ID:LPAR6_HUMAN DESCRIPTION: RecName: Full=Lysophosphatidic acid receptor 6; Short=LPA receptor 6; Short=LPA-6; AltName: Full=Oleoyl-L-alpha-lysophosphatidic acid receptor; AltName: Full=P2Y purinoceptor 5; Short=P2Y5; AltName: Full=Purinergic receptor 5; AltName: Full=RB intron encoded G-protein coupled receptor; FUNCTION: Binds to oleoyl-L-alpha-lysophosphatidic acid (LPA). Intracellular cAMP is involved in the receptor activation. Important for the maintenance of hair growth and texture. SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein. TISSUE SPECIFICITY: Expressed ubiquitously, including in skin and hair follicle cells. Detected in both Henle's and Huxley's layers of the inner root sheath of the hair follicle and in suprabasal layers of the epidermis (at protein level). Expressed at low levels in peripheral blood leukocytes. DEVELOPMENTAL STAGE: Markedly up-regulated in promyelocytic HL60 cells induced to differentiate along the monocyte/macrophage pathway. Not detectable in undifferentiated HL60 cells and only low levels after the induction of differentiation along the granulocytic pathway. DISEASE: Defects in LPAR6 are the cause of woolly hair autosomal recessive type 1 with or without hypotrichosis (ARWH1) [MIM:278150]. A hair shaft disorder characterized by fine and tightly curled hair. Compared to normal curly hair that is observed in some populations, woolly hair grows slowly and stops growing after a few inches. Under light microscopy, woolly hair shows some structural anomalies, including trichorrhexis nodosa and tapered ends. DISEASE: Defects in LPAR6 are the cause of hypotrichosis type 8 (HYPT8) [MIM:278150]. A condition characterized by the presence of less than the normal amount of hair. Affected individuals show progressive hair loss, thinning of scalp hair since early childhood, sparse body hair, and sparse eyebrows and eyelashes in some cases. MISCELLANEOUS: This is a nested gene within intron 17 of the retinoblastoma gene. SIMILARITY: Belongs to the G-protein coupled receptor 1 family. SEQUENCE CAUTION: Sequence=L11910; Type=Frameshift; Positions=31;
ModBase Predicted Comparative 3D Structure on P43657
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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.
Biological Process: GO:0007165 signal transduction GO:0007186 G-protein coupled receptor signaling pathway GO:0035025 positive regulation of Rho protein signal transduction GO:0051482 positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway