Reviewed, UniProtKB/Swiss-Prot P43657 (P2RY5_HUMAN)

Names and origin

Protein names

Recommended name:
    Oleoyl-L-alpha-lysophosphatidic acid receptor
Alternative name(s):
    P2Y purinoceptor 5
      Short name=P2Y5
    Purinergic receptor 5
    RB intron encoded G-protein coupled receptor

Gene names

Name:

P2RY5

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	344 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at protein level.

General annotation (Comments)

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.
Involvement in disease	Defects in P2RY5 are a cause of autosomal recessive woolly hair (ARWH) [MIM:278150]. Woolly hair refers to a phenotypic variant with fine and tightly curled hair. Defects in P2RY5 are the cause of localized autosomal recessive hypotrichosis type 3 (LAH3) [MIM:611452]. LAH3 is a form of hereditary isolated alopecia characterized by diffuse and progressive hair loss, usually beginning in early childhood.
Miscellaneous	This is a nested gene within intron 17 of the retinoblastoma gene.
Sequence similarities	Belongs to the G-protein coupled receptor 1 family.
Sequence caution	The sequence L11910 differs from that shown. Reason: Frameshift at position 31.

Ontologies

Keywords
Cellular component	Cell membrane Membrane
Coding sequence diversity	Polymorphism
Disease	Disease mutation
Domain	Transmembrane
Molecular function	G-protein coupled receptor Receptor Transducer
PTM	Glycoprotein Lipoprotein Palmitate
Gene Ontology (GO)
Biological process	G-protein coupled receptor protein signaling pathway Non-traceable author statement. Source: UniProtKB
Cellular component	integral to membrane Non-traceable author statement. Source: UniProtKB plasma membrane Inferred from electronic annotation. Source: UniProtKB-KW
Molecular function	purinergic nucleotide receptor activity, G-protein coupled Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 344	344	Oleoyl-L-alpha-lysophosphatidic acid receptor		PRO_0000070025
Regions
	Topological domain	1 – 19	19	Extracellular Potential
	Transmembrane	20 – 46	27	1 Potential
	Topological domain	47 – 55	9	Cytoplasmic Potential
	Transmembrane	56 – 79	24	2 Potential
	Topological domain	80 – 92	13	Extracellular Potential
	Transmembrane	93 – 112	20	3 Potential
	Topological domain	113 – 133	21	Cytoplasmic Potential
	Transmembrane	134 – 154	21	4 Potential
	Topological domain	155 – 181	27	Extracellular Potential
	Transmembrane	182 – 209	28	5 Potential
	Topological domain	210 – 227	18	Cytoplasmic Potential
	Transmembrane	228 – 253	26	6 Potential
	Topological domain	254 – 272	19	Extracellular Potential
	Transmembrane	273 – 292	20	7 Potential
	Topological domain	293 – 344	52	Cytoplasmic Potential
Amino acid modifications
	Lipidation	284	1	S-palmitoyl cysteine By similarity
	Glycosylation	5	1	N-linked (GlcNAc...) Potential
	Disulfide bond	89 ↔ 168		Potential
Natural variations
	Natural variant	33	1	I → V: dbSNP rs1060585.		VAR_022636
	Natural variant	63	1	D → V in ARWH.		VAR_044326
	Natural variant	137	1	C → W: dbSNP rs4151553.		VAR_016253
	Natural variant	188	1	I → F in ARWH.		VAR_044327
	Natural variant	189	1	E → K in ARWH.		VAR_044328
Experimental info
	Sequence conflict	242	1	F → I in BAD97109. Ref.5
	Sequence conflict	303	1	K → I in CAD97680. Ref.4
	Sequence conflict	344	1	A → G in CAD97687. Ref.4

Sequences

	Sequence		Length	Mass (Da)
	P43657-1 [UniParc]. Last modified August 22, 2003. Version 3. Checksum: 699212F3C1249433	FASTA	344	39,392
	10 20 30 40 50 60 MVSVNSSHCF YNDSFKYTLY GCMFSMVFVL GLISNCVAIY IFICVLKVRN ETTTYMINLA 70 80 90 100 110 120 MSDLLFVFTL PFRIFYFTTR NWPFGDLLCK ISVMLFYTNM YGSILFLTCI SVDRFLAIVY 130 140 150 160 170 180 PFKSKTLRTK RNAKIVCTGV WLTVIGGSAP AVFVQSTHSQ GNNASEACFE NFPEATWKTY 190 200 210 220 230 240 LSRIVIFIEI VGFFIPLILN VTCSSMVLKT LTKPVTLSRS KINKTKVLKM IFVHLIIFCF 250 260 270 280 290 300 CFVPYNINLI LYSLVRTQTF VNCSVVAAVR TMYPITLCIA VSNCCFDPIV YYFTSDTIQN 310 320 330 340 SIKMKNWSVR RSDFRFSEVH GAENFIQHNL QTLKSKIFDN ESAA

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Complete genomic sequence of the human retinoblastoma susceptibility gene." Toguchida J., McGee T.L., Paterson J.C., Eagle J.R., Tucker S., Yandell D.W., Dryja T.P. Genomics 17:535-543(1993) [PubMed: 7902321] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[2]	"Intron 17 of the human retinoblastoma susceptibility gene encodes an actively transcribed G protein-coupled receptor gene." Herzog H., Darby K., Hort Y.J., Shine J. Genome Res. 6:858-861(1996) [PubMed: 8889552] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[3]	"The human purinergic receptor P2Y5 is encoded in intron 17 of the retinoblastoma gene." Bohm S.K., Trumpp A., Khitin L.M., Kong W., Payan D.G., Bunnett N.W. Submitted (JUL-1997) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[4]	The German cDNA consortium Submitted (JUN-2003) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Endometrium and Heart.
[5]	Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S. Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Thymus.
[6]	"NIEHS-SNPs, environmental genome project, NIEHS ES15478, Department of Genome Sciences, Seattle, WA (URL: http://egp.gs.washington.edu)." Rieder M.J., Livingston R.J., Braun A.C., Montoya M.A., Chung M.-W., Miyamoto K.E., Nguyen C.P., Nguyen D.A., Poel C.L., Robertson P.D., Schackwitz W.S., Sherwood J.K., Witrak L.A., Nickerson D.A. Submitted (OCT-2002) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT TRP-137.
[7]	"The DNA sequence and analysis of human chromosome 13." Dunham A., Matthews L.H., Burton J., Ashurst J.L., Howe K.L., Ashcroft K.J., Beare D.M., Burford D.C., Hunt S.E., Griffiths-Jones S., Jones M.C., Keenan S.J., Oliver K., Scott C.E., Ainscough R., Almeida J.P., Ambrose K.D., Andrews D.T. , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Bannerjee R., Barlow K.F., Bates K., Beasley H., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burrill W., Carder C., Carter N.P., Chapman J.C., Clamp M.E., Clark S.Y., Clarke G., Clee C.M., Clegg S.C., Cobley V., Collins J.E., Corby N., Coville G.J., Deloukas P., Dhami P., Dunham I., Dunn M., Earthrowl M.E., Ellington A.G., Faulkner L., Frankish A.G., Frankland J., French L., Garner P., Garnett J., Gilbert J.G.R., Gilson C.J., Ghori J., Grafham D.V., Gribble S.M., Griffiths C., Hall R.E., Hammond S., Harley J.L., Hart E.A., Heath P.D., Howden P.J., Huckle E.J., Hunt P.J., Hunt A.R., Johnson C., Johnson D., Kay M., Kimberley A.M., King A., Laird G.K., Langford C.J., Lawlor S., Leongamornlert D.A., Lloyd D.M., Lloyd C., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., McLaren S.J., McMurray A., Milne S., Moore M.J.F., Nickerson T., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K.M., Rice C.M., Searle S., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Steward C.A., Sycamore N., Tester J., Thomas D.W., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Wilming L., Wray P.W., Wright M.W., Young L., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Beck S., Bentley D.R., Rogers J., Ross M.T. Nature 428:522-528(2004) [PubMed: 15057823] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[8]	Mural R.J., Istrail S., Sutton G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[9]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Brain, Placenta and Testis.
[10]	"Expression of purinergic receptors (ionotropic P2X1-7 and metabotropic P2Y1-11) during myeloid differentiation of HL60 cells." Adrian K., Bernhard M.K., Breitinger H.-G., Ogilvie A. Biochim. Biophys. Acta 1492:127-138(2000) [PubMed: 11004484] [Abstract] Cited for: TISSUE SPECIFICITY, DEVELOPMENTAL STAGE.
[11]	"G protein-coupled receptor P2Y5 and its ligand LPA are involved in maintenance of human hair growth." Pasternack S.M., von Kuegelgen I., Aboud K.A., Lee Y.-A., Rueschendorf F., Voss K., Hillmer A.M., Molderings G.J., Franz T., Ramirez A., Nuernberg P., Noethen M.M., Betz R.C. Nat. Genet. 40:329-334(2008) [PubMed: 18297070] [Abstract] Cited for: FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, INVOLVEMENT IN LAH3.
[12]	"Disruption of P2RY5, an orphan G protein-coupled receptor, underlies autosomal recessive woolly hair." Shimomura Y., Wajid M., Ishii Y., Shapiro L., Petukhova L., Gordon D., Christiano A.M. Nat. Genet. 40:335-339(2008) [PubMed: 18297072] [Abstract] Cited for: VARIANTS ARWH VAL-63; PHE-188 AND LYS-189, TISSUE SPECIFICITY.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBLGenBankDDBJ	L11910 Genomic DNA. No translation available. L78805 Genomic DNA. Translation: AAL40065.1. AF000546 mRNA. Translation: AAB62190.1. BX537392 mRNA. Translation: CAD97634.1. BX537438 mRNA. Translation: CAD97680.1. BX537445 mRNA. Translation: CAD97687.1. AK223389 mRNA. Translation: BAD97109.1. AF551763 Genomic DNA. Translation: AAN64134.1. AL392048 Genomic DNA. Translation: CAH72247.1. CH471075 Genomic DNA. Translation: EAX08796.1. BC040850 mRNA. Translation: AAH40850.1. BC045651 mRNA. Translation: AAH45651.1. BC070295 mRNA. Translation: AAH70295.1. BC106756 mRNA. Translation: AAI06757.1.
PIR	T09508.
RefSeq	NP_005758.2.
UniGene	Hs.123464
3D structure databases
HSSP	HSSP built from PDB template 1DDD based on UniProtKB P34996.
ModBase	Search...
Protein family/group databases
GPCRDB	Search...
Polymorphism databases
NIEHS-SNPs	Search...
Genome annotation databases
Ensembl	ENSG00000139679. Homo sapiens. [Contig view]
GeneID	10161.
KEGG	hsa:10161.
Organism-specific databases
H-InvDB	HIX0026540.
HGNC	HGNC:15520. P2RY5.
MIM	278150. phenotype. 609239. gene. 611452. phenotype.
Orphanet	55654. Hypotrichosis simplex. 170. Woolly hair.
PharmGKB	PA134864949.
GenAtlas	Search...
GeneCards	Search...
Phylogenomic databases
HOGENOM	P43657.
HOVERGEN	P43657.
Gene expression databases
ArrayExpress	P43657.
CleanEx	HS_P2RY5.
GermOnline	ENSG00000139679. Homo sapiens.
Family and domain databases
InterPro	IPR000276. GPCR_Rhodpsn. IPR017452. GPCR_Rhodpsn_supfam. IPR002188. P2Y5_purnocptor. [Graphical view]
Pfam	PF00001. 7tm_1. 1 hit. [Graphical view]
PRINTS	PR00237. GPCRRHODOPSN. PR01067. P2Y5ORPHANR.
PROSITE	PS00237. G_PROTEIN_RECEP_F1_1. 1 hit. PS50262. G_PROTEIN_RECEP_F1_2. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	38470.
SOURCE	Search...

Entry information

Entry name

P2RY5_HUMAN

Accession

Primary (citable) accession number: P43657
Secondary accession number(s): A4FTW9 , O15133, Q3KPF5, Q53FA0, Q5VW44, Q7Z3S0, Q7Z3S6

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 1, 1995
Last sequence update:	August 22, 2003
Last modified:	November 25, 2008
This is version 74 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)