Human Gene LPAR6 (ENST00000620633.5_7) from GENCODE V47lift37
  Description: lysophosphatidic acid receptor 6, transcript variant 3 (from RefSeq NM_001162498.3)
Gencode Transcript: ENST00000620633.5_7
Gencode Gene: ENSG00000139679.16_9
Transcript (Including UTRs)
   Position: hg19 chr13:48,985,274-48,987,249 Size: 1,976 Total Exon Count: 1 Strand: -
Coding Region
   Position: hg19 chr13:48,985,525-48,986,559 Size: 1,035 Coding Exon Count: 1 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr13:48,985,274-48,987,249)mRNA (may differ from genome)Protein (344 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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-  Comments and Description Text from UniProtKB
  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;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: LPAR6
Diseases sorted by gene-association score: hypotrichosis 8* (1327), woolly hair syndrome* (247), hypotrichosis simplex* (212), woolly hair, autosomal recessive (21), hypotrichosis (19), hypotrichosis 6 (12), monilethrix (10), hypotrichosis 7 (9), hair disease (7)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
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+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -143.80690-0.208 Picture PostScript Text
3' UTR -36.70251-0.146 Picture PostScript Text

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.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000276 - 7TM_GPCR_Rhodpsn
IPR017452 - GPCR_Rhodpsn_supfam
IPR002188 - P2Y5_purnocptor

Pfam Domains:
PF00001 - 7 transmembrane receptor (rhodopsin family)

SCOP Domains:
142913 - YktB/PF0168-like
81321 - Family A G protein-coupled receptor-like

ModBase Predicted Comparative 3D Structure on P43657
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  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.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004871 signal transducer activity
GO:0004930 G-protein coupled receptor activity
GO:0070915 lysophosphatidic acid receptor activity

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

Cellular Component:
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0043231 intracellular membrane-bounded organelle


-  Descriptions from all associated GenBank mRNAs
  BX647109 - Homo sapiens mRNA; cDNA DKFZp686C10196 (from clone DKFZp686C10196).
AK123059 - Homo sapiens cDNA FLJ41064 fis, clone TRACH2001021, highly similar to P2Y PURINOCEPTOR 5.
AK223389 - Homo sapiens mRNA for G-protein coupled purinergic receptor P2Y5 variant, clone: FCC107B01.
BC040850 - Homo sapiens purinergic receptor P2Y, G-protein coupled, 5, mRNA (cDNA clone MGC:49911 IMAGE:5180625), complete cds.
BX537445 - Homo sapiens mRNA; cDNA DKFZp686B1664 (from clone DKFZp686B1664); complete cds.
BX537392 - Homo sapiens mRNA; cDNA DKFZp313O1437 (from clone DKFZp313O1437); complete cds.
BX537438 - Homo sapiens mRNA; cDNA DKFZp686P1665 (from clone DKFZp686P1665); complete cds.
BC045651 - Homo sapiens purinergic receptor P2Y, G-protein coupled, 5, mRNA (cDNA clone MGC:43555 IMAGE:5269149), complete cds.
AK122856 - Homo sapiens cDNA FLJ16477 fis, clone BRSTN2013171, highly similar to P2Y purinoceptor 5.
BC070295 - Homo sapiens purinergic receptor P2Y, G-protein coupled, 5, mRNA (cDNA clone MGC:88290 IMAGE:6663864), complete cds.
BC106756 - Homo sapiens purinergic receptor P2Y, G-protein coupled, 5, mRNA (cDNA clone MGC:120358 IMAGE:40024517), complete cds.
AF000546 - Homo sapiens purinergic receptor P2Y5 mRNA, complete cds.
EU831916 - Synthetic construct Homo sapiens clone HAIB:100066945; DKFZo008B0423 purinergic receptor P2Y, G-protein coupled, 5 protein (P2RY5) gene, encodes complete protein.
HQ995530 - Homo sapiens purinergic receptor P2Y G protein-coupled protein 5 (P2RY5) mRNA, complete cds.
JF810890 - Homo sapiens lysophosphatidic acid receptor 6 (LPAR6) mRNA, complete cds.
EU832010 - Synthetic construct Homo sapiens clone HAIB:100067039; DKFZo004B0424 purinergic receptor P2Y, G-protein coupled, 5 protein (P2RY5) gene, encodes complete protein.
KJ892942 - Synthetic construct Homo sapiens clone ccsbBroadEn_02336 LPAR6 gene, encodes complete protein.
KR711837 - Synthetic construct Homo sapiens clone CCSBHm_00031289 LPAR6 (LPAR6) mRNA, encodes complete protein.
KR711838 - Synthetic construct Homo sapiens clone CCSBHm_00031291 LPAR6 (LPAR6) mRNA, encodes complete protein.
KR711839 - Synthetic construct Homo sapiens clone CCSBHm_00031294 LPAR6 (LPAR6) mRNA, encodes complete protein.
KR711840 - Synthetic construct Homo sapiens clone CCSBHm_00031297 LPAR6 (LPAR6) mRNA, encodes complete protein.
AB464111 - Synthetic construct DNA, clone: pF1KB7145, Homo sapiens P2RY5 gene for purinergic receptor P2Y, G-protein coupled, 5, without stop codon, in Flexi system.
BC054346 - Homo sapiens purinergic receptor P2Y, G-protein coupled, 5, mRNA (cDNA clone IMAGE:4479923), with apparent retained intron.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P43657 (Reactome details) participates in the following event(s):

R-HSA-417890 P2Y5 receptor can bind to LPA
R-HSA-749452 The Ligand:GPCR:Gq complex dissociates
R-HSA-749448 Liganded Gq-activating GPCRs bind inactive heterotrimeric Gq
R-HSA-379048 Liganded Gq/11-activating GPCRs act as GEFs for Gq/11
R-HSA-417957 P2Y receptors
R-HSA-416476 G alpha (q) signalling events
R-HSA-418038 Nucleotide-like (purinergic) receptors
R-HSA-388396 GPCR downstream signalling
R-HSA-373076 Class A/1 (Rhodopsin-like receptors)
R-HSA-372790 Signaling by GPCR
R-HSA-500792 GPCR ligand binding
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: A4FTW9, B3KVF2, ENST00000620633.1, ENST00000620633.2, ENST00000620633.3, ENST00000620633.4, F2YGU4, LPAR6_HUMAN, NM_001162498, O15133, P2RY5, P43657, Q3KPF5, Q53FA0, Q5VW44, Q7Z3S0, Q7Z3S6, uc327tdy.1, uc327tdy.2
UCSC ID: ENST00000620633.5_7
RefSeq Accession: NM_001162498.3
Protein: P43657 (aka LPAR6_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.