• Gene id: 84634

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 (18084997: 18056298)     Exons: 17     NC_000008.11
• 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 e
• 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
• Sequence:

  MHTVATSGPNASWGAPANASGCPGCGANASDGPVPSPRAVDAWLVPLFFAALMLLGLVGNSLVIYVICRHKPMRT
  VTNFYIANLAATDVTFLLCCVPFTALLYPLPGWVLGDFMCKFVNYIQQVSVQATCATLTAMSVDRWYVTVFPLRA
  LHRRTPRLALAVSLSIWVGSAAVSAPVLALHRLSPGPRAYCSEAFPSRALERAFALYNLLALYLLPLLATCACYA
  AMLRHLGRVAVRPAPADSALQGQVLAERAGAVRAKVSRLVAAVVLLFAACWGPIQLFLVLQALGPAGSWHPRSYA
  AYALKTWAHCMSYSNSALNPLLYAFLGSHFRQAFRRVCPCAPRRPRRPRRPGPSDPAAPHAELLRLGSHPAPARA
  QKPGSSGLAARGLCVLGEDNAPL

• Structural information:
  • Interpro: IPR000276  IPR017452  IPR008103  
  • Prosite: PS50262
  • CDD: cd15095
  • STRING: ENSP00000234371
• Other Databases: GeneCards:  KISS1R  Malacards:  KISS1R

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000186	activation of MAPKK activity	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 plasma membrane	IBA	cellular component
GO:0007186	G-protein coupled receptor signaling pathway	NAS	biological process
GO:0007200	phospholipase C-activating G-protein coupled receptor signaling pathway	IBA	biological process
GO:0007218	neuropeptide signaling pathway	IEA	biological process
GO:0008188	neuropeptide receptor activity	IDA	molecular function
GO:0008285	negative regulation of cell proliferation	IEA	biological process
GO:0009986	cell surface	IEA	cellular component
GO:0016021	integral component of membrane	IDA	cellular component
GO:0019722	calcium-mediated signaling	IEA	biological process
GO:0042923	neuropeptide binding	IEA	molecular function
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0046887	positive regulation of hormone secretion	IEA	biological process
GO:0050482	arachidonic acid secretion	IEA	biological process
GO:0050806	positive regulation of synaptic transmission	IEA	biological process
GO:0051496	positive regulation of stress fiber assembly	IEA	biological process
GO:0000186	activation of MAPKK activity	IEA	biological process
GO:0004871	signal transducer activity	IEA	molecular function
GO:0004930	G-protein coupled receptor activity	IEA	molecular function
GO:0004930	G-protein coupled receptor 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 plasma membrane	IBA	cellular component
GO:0007165	signal transduction	IEA	biological process
GO:0007165	signal transduction	IEA	biological process
GO:0007186	G-protein coupled receptor signaling pathway	IEA	biological process
GO:0007186	G-protein coupled receptor signaling pathway	IEA	biological process
GO:0007186	G-protein coupled receptor signaling pathway	IEA	biological process
GO:0007186	G-protein coupled receptor signaling pathway	NAS	biological process
GO:0007200	phospholipase C-activating G-protein coupled receptor signaling pathway	IBA	biological process
GO:0007218	neuropeptide signaling pathway	IEA	biological process
GO:0008188	neuropeptide receptor activity	IDA	molecular function
GO:0008285	negative regulation of cell 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 membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016021	integral component of membrane	IDA	cellular component
GO:0019722	calcium-mediated signaling	IEA	biological process
GO:0042923	neuropeptide binding	IEA	molecular function
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0046887	positive regulation of hormone secretion	IEA	biological process
GO:0050482	arachidonic acid secretion	IEA	biological process
GO:0050806	positive regulation of synaptic transmission	IEA	biological process
GO:0051496	positive regulation of stress 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 plasma membrane	IBA	cellular component
GO:0007186	G-protein coupled receptor signaling pathway	NAS	biological process
GO:0007200	phospholipase C-activating G-protein coupled receptor signaling pathway	IBA	biological process
GO:0008188	neuropeptide receptor activity	IDA	molecular function
GO:0016021	integral component of membrane	IDA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04080	Neuroactive ligand-receptor interaction
hsa04929	GnRH secretion

Diseases

Associated diseases	References
Obesity	GAD: 20734064
Bone diseases	GAD: 19453261
Kallmann syndrome (KS)	GAD: 18682503
Endometriosis	INFBASE: 22210725
Female infertility	INFBASE: 22210725
Precocious puberty	KEGG: H00937
Male factor infertility	MIK: 15598687
Hypogonadotropic hypogonadism	MIK: 15598687
Hypogonadotropic hypogonadism	MIK: 15598687
Non-obstructive azoospermia (NOA)	MIK: 31821609
Provides insights into human reproductive syndromes	MIK: 14652023
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
15598687	Hypogonadotropic hypogonadism	C223R, R297L		30 patients with normosmic HH or delayed puberty	Male infertility
14652023	Provides insights into human reproductive syndromes				Male infertility
31821609	Non-obstructive azoospermia (NOA)	p.A211T, p.G186E, p.A301D		200 Non-obstructive azoospermia (NOA)	Male infertility	NGS
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R