Endometriosis Knowledgebase

Search Result

Gene id

84634

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

KISS1R Gene UCSC Ensembl

Aliases

AXOR12, CPPB1, GPR54, HH8, HOT7T175, KISS-1R

Gene name

KISS1 receptor

Alternate names

kiSS-1 receptor, G protein-coupled receptor 54, G-protein coupled receptor OT7T175, hypogonadotropin-1, kisspeptins receptor, metastin receptor,

Gene location

19p13.3 (916692: 921014) Exons: 5 NC_000019.10

Gene summary(Entrez)

The protein encoded by this gene is a galanin-like G protein-coupled receptor that binds metastin, a peptide encoded by the metastasis suppressor gene KISS1. The tissue distribution of the expressed gene suggests that it is involved in the regulation of endocrine function, and this is supported by the finding that this gene appears to play a role in the onset of puberty. Mutations in this gene have been associated with hypogonadotropic hypogonadism and central precocious puberty. [provided by RefSeq, Jul 2008]

OMIM

604161

Protein Summary

Protein general information

Q969F8

Name: KiSS 1 receptor (KiSS 1R) (G protein coupled receptor 54) (G protein coupled receptor OT7T175) (hOT7T175) (Hypogonadotropin 1) (Kisspeptins receptor) (Metastin receptor)

Length: 398 Mass: 42,586

Tissue specificity: Most highly expressed in the pancreas, placenta and spinal cord, with lower-level of expression in peripheral blood leukocytes, kidney, lung, fetal liver, stomach, small intestine, testes, spleen, thymus, adrenal glands and lymph nodes

Sequence

MHTVATSGPNASWGAPANASGCPGCGANASDGPVPSPRAVDAWLVPLFFAALMLLGLVGNSLVIYVICRHKPMRT
VTNFYIANLAATDVTFLLCCVPFTALLYPLPGWVLGDFMCKFVNYIQQVSVQATCATLTAMSVDRWYVTVFPLRA
LHRRTPRLALAVSLSIWVGSAAVSAPVLALHRLSPGPRAYCSEAFPSRALERAFALYNLLALYLLPLLATCACYA
AMLRHLGRVAVRPAPADSALQGQVLAERAGAVRAKVSRLVAAVVLLFAACWGPIQLFLVLQALGPAGSWHPRSYA
AYALKTWAHCMSYSNSALNPLLYAFLGSHFRQAFRRVCPCAPRRPRRPRRPGPSDPAAPHAELLRLGSHPAPARA
QKPGSSGLAARGLCVLGEDNAPL

Structural information

Interpro:	IPR000276 IPR017452 IPR008103
Prosite:	PS50262
Pfam:	PF00001
STRING:	ENSP00000234371;

Other Databases

GeneCards: KISS1R; Malacards: KISS1R

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000186	activation of MAPKK activ ity	IEA	biological_process
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005886	plasma membrane	IDA	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005887	integral component of pla sma membrane	IBA	cellular_component
GO:0007186	G-protein coupled recepto r signaling pathway	NAS	biological_process
GO:0007200	phospholipase C-activatin g G-protein coupled recep tor signaling pathway	IBA	biological_process
GO:0007218	neuropeptide signaling pa thway	IEA	biological_process
GO:0008188	neuropeptide receptor act ivity	IDA	molecular_function
GO:0008285	negative regulation of ce ll proliferation	IEA	biological_process
GO:0009986	cell surface	IEA	cellular_component
GO:0016021	integral component of mem brane	IDA	cellular_component
GO:0019722	calcium-mediated signalin g	IEA	biological_process
GO:0042923	neuropeptide binding	IEA	molecular_function
GO:0043231	intracellular membrane-bo unded organelle	IDA	cellular_component
GO:0046887	positive regulation of ho rmone secretion	IEA	biological_process
GO:0050482	arachidonic acid secretio n	IEA	biological_process
GO:0050806	positive regulation of sy naptic transmission	IEA	biological_process
GO:0051496	positive regulation of st ress fiber assembly	IEA	biological_process
GO:0000186	activation of MAPKK activ ity	IEA	biological_process
GO:0004871	signal transducer activit y	IEA	molecular_function
GO:0004930	G-protein coupled recepto r activity	IEA	molecular_function
GO:0004930	G-protein coupled recepto r activity	IEA	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005622	intracellular	IEA	cellular_component
GO:0005886	plasma membrane	IEA	cellular_component
GO:0005886	plasma membrane	IEA	cellular_component
GO:0005886	plasma membrane	IDA	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005887	integral component of pla sma membrane	IBA	cellular_component
GO:0007165	signal transduction	IEA	biological_process
GO:0007165	signal transduction	IEA	biological_process
GO:0007186	G-protein coupled recepto r signaling pathway	IEA	biological_process
GO:0007186	G-protein coupled recepto r signaling pathway	IEA	biological_process
GO:0007186	G-protein coupled recepto r signaling pathway	IEA	biological_process
GO:0007186	G-protein coupled recepto r signaling pathway	NAS	biological_process
GO:0007200	phospholipase C-activatin g G-protein coupled recep tor signaling pathway	IBA	biological_process
GO:0007218	neuropeptide signaling pa thway	IEA	biological_process
GO:0008188	neuropeptide receptor act ivity	IDA	molecular_function
GO:0008285	negative regulation of ce ll proliferation	IEA	biological_process
GO:0008528	G-protein coupled peptide receptor activity	IEA	molecular_function
GO:0009986	cell surface	IEA	cellular_component
GO:0016020	membrane	IEA	cellular_component
GO:0016020	membrane	IEA	cellular_component
GO:0016021	integral component of mem brane	IEA	cellular_component
GO:0016021	integral component of mem brane	IEA	cellular_component
GO:0016021	integral component of mem brane	IDA	cellular_component
GO:0019722	calcium-mediated signalin g	IEA	biological_process
GO:0042923	neuropeptide binding	IEA	molecular_function
GO:0043231	intracellular membrane-bo unded organelle	IDA	cellular_component
GO:0046887	positive regulation of ho rmone secretion	IEA	biological_process
GO:0050482	arachidonic acid secretio n	IEA	biological_process
GO:0050806	positive regulation of sy naptic transmission	IEA	biological_process
GO:0051496	positive regulation of st ress fiber assembly	IEA	biological_process
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005886	plasma membrane	IDA	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005887	integral component of pla sma membrane	IBA	cellular_component
GO:0007186	G-protein coupled recepto r signaling pathway	NAS	biological_process
GO:0007200	phospholipase C-activatin g G-protein coupled recep tor signaling pathway	IBA	biological_process
GO:0008188	neuropeptide receptor act ivity	IDA	molecular_function
GO:0016021	integral component of mem brane	IDA	cellular_component
GO:0043231	intracellular membrane-bo unded organelle	IDA	cellular_component

KEGG pathways

hsa04080 Neuroactive ligand-receptor interaction

Diseases

Associated diseases	References
Endometriosis	PMID: 22210725
Hypogonadotropic hypogonadism	PMID: 15598687
Endometriosis	INFBASE22210725
Precocious puberty	KEGG: H00937, OMIM: 604161

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
22210725	Endometrio sis			40 (24 women su ffering from en dometriosis, 16 control women)		KISS1R	Show abstract