MGP Database

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MGP004147

UniProt Annotations

Entry Information
Gene Namelysophosphatidic acid receptor 6
Protein EntryLPAR6_HUMAN
UniProt IDP43657
SpeciesHuman
Comments
Comment typeDescription
Developmental StageMarkedly 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. {ECO:0000269|PubMed:11004484}.
DiseaseHypotrichosis 8 (HYPT8) [MIM:278150]: A condition characterized by the presence of less than the normal amount of hair and abnormal hair follicles and shafts, which are thin and atrophic. The disorder affects the trunk and extremities as well as the scalp, and the eyebrows and eyelashes may also be involved, whereas beard, pubic, and axillary hairs are largely spared. In addition, patients can develop hyperkeratotic follicular papules, erythema, and pruritus in affected areas. In some patients with congenital hypotrichosis, monilethrix-like hairs showing elliptical nodes have been observed. {ECO:0000269|PubMed:18297070}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseWoolly hair autosomal recessive 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. Some individuals exhibit features of hypotrichosis. {ECO:0000269|PubMed:18297072}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionBinds to oleoyl-L-alpha-lysophosphatidic acid (LPA). Intracellular cAMP is involved in the receptor activation. Important for the maintenance of hair growth and texture. {ECO:0000269|PubMed:18297070}.
MiscellaneousThis is a nested gene within intron 17 of the retinoblastoma gene.
Sequence CautionSequence=L11910; Type=Frameshift; Positions=31; Evidence={ECO:0000305};
SimilarityBelongs to the G-protein coupled receptor 1 family. {ECO:0000255|PROSITE-ProRule:PRU00521}.
Subcellular LocationCell membrane {ECO:0000269|PubMed:18297070}; Multi-pass membrane protein {ECO:0000269|PubMed:18297070}.
Tissue SpecificityExpressed 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. {ECO:0000269|PubMed:11004484, ECO:0000269|PubMed:18297070, ECO:0000269|PubMed:18297072}.
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