KISS1R - KISS1 receptor Gene

Also Known as HH8; CPPB1; GPR54; AXOR12; KISS-1R; HOT7T175

生物種: Homo sapiens

遺伝子タイプ: protein coding

遺伝子ID: 84634

About KISS1R

Cytogenetic location: 19p13.3 Genomic coordinates (GRCh38): 19:917,333-921,005 (from NCBI)

This gene has 3 transcripts (splice variants), 135 orthologues, 17 paralogues and is associated with 4 phenotypes. Low expression observed in reference dataset.

Summary

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]

KISS1R Products (2)

mRNA	Protein	Name
XM_047439545.1	XP_047295501.1	kiSS-1 receptor isoform X1
NM_032551.5	NP_115940.2	kiSS-1 receptor

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	参考文献	由来
enables neuropeptide receptor activity	IDA IDA: Inferred from direct assay	11387329	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	11387329	GOA

Cellular Component GO Annotation	Evidence	参考文献	由来
located in cilium	IDA IDA: Inferred from direct assay	28154160	GOA
located in membrane	IDA IDA: Inferred from direct assay	11387329	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

KISS1R Protein Structure

7tm_1

0
100
200
300
398 a.a.

Protein Preferred Names	Protein Names
kiSS-1 receptor	G protein-coupled receptor 54 G-protein coupled receptor OT7T175 hypogonadotropin-1 kisspeptins receptor metastin receptor

KISS1R Protein-protein interaction Information

Type	タンパク質名	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	参考文献
Intra	KISS1R	Q969F8	GNAQ	Homo sapiens	P50148	Pull Down	18772143
Intra	KISS1R	Q969F8	PPP2CA	Homo sapiens	P67775	Pull Down	18977201

Cross: Cross-species interaction Intra: Intraspecies interaction

KISS1R 抗体

製品番号	製品名	アプリケーション	反応性
HY-P810743	KiSS1 receptor Antibody (YA9986)	WB	Human, Mouse, Rat

関連疾患

Diseases	Alias
Sensorineural Hearing Loss	Sensory Hearing Loss Sensorineural Hearing Loss Disorder Hearing Loss, Sensorineural Central Hearing Loss High Frequency Deafness High Frequency Hearing Loss High-Frequency Hearing Loss Perceptive Deafness Perceptive Hearing Loss Perceptive Hearing Loss Or Deafness Sensorineural Deafness Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss High-Frequency Hearing Loss, Central Hearing Loss, High-Frequency
Precocious Puberty	Familial Precocious Puberty Idiopathic Sexual Precocity Sexual Precocity Puberty Precocious Cryptogenic Sexual Precocity
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	HH8 Hypogonadotropic Hypogonadism 8 Without Anosmia Hypogonadism, Hypogonadotropic, Type 8 With/Without Anosmia
Kallmann Syndrome	Hypogonadism With Anosmia Kallman'S Syndrome Anosmic Hypogonadism Anosmic Idiopathic Hypogonadotropic Hypogonadism Hypogonadotropic Hypogonadism And Anosmia Hypogonadotropic Hypogonadism-Anosmia Syndrome Olfacto-Genital Pathological Sequence Familial Hypogonadism With Anosmia Kallman Syndrome Dysplasia Olfactogenitalis Of De Morsier Kallmann'S Syndrome Congenital Hypogonadotropic Hypogonadism With Anosmia
Septooptic Dysplasia	Septo-Optic Dysplasia De Morsier Syndrome Growth Hormone Deficiency With Pituitary Anomalies SOD Pituitary Hormone Deficiency, Combined, 5 Septo-Optic Dysplasia Spectrum Septo-Optic Dysplasia With Growth Hormone Deficiency Pituitary Hormone Deficiency, Combined 5 Hypopituitarism And Septooptic 'Dysplasia' GHDPA CPHD5 Dysplasia, Septo-Optic Kallmann Syndrome
Precocious Puberty, Male-Limited	Testotoxicosis Familial Male-Limited Precocious Puberty Leydig Cell Adenoma, Somatic, With Precocious Puberty FMPP Familial Testotoxicosis Sexual Precocity, Familial, Gonadotropin-Independent Familial Gonadotropin-Independent Male-Limited Sexual Precocity Male-Limited Precocious Puberty Pubertas Praecox Gonadotropin-Independent Familial Sexual Precocity Testotoxicosis, Familial Precocious Puberty, Male Precocious Puberty, Male Limited Familial Gonadotrophin-Independent Sexual Precocity Gipp Gonadotrophin-Independent Precocious Puberty Precocious Pseudopuberty Familial Male Precocious Puberty Precocious Puberty In Males Puberty, Precocious Precocious Puberty
Cryptorchidism, Unilateral Or Bilateral	Cryptorchidism Undescended Testicle Undescended Testis Cryptorchism Undescended Testicles CRYPTO Impaired Testicular Descent Cryptosporidiosis Retained Testis Unilateral Cryptorchidism Unilateral Undescended Testis Nondescent Unilateral Testicle Unilateral Cryptorchism Ectopic Testis, Unilateral Bilateral Cryptorchidism Bilateral Cryptorchism Bilateral Nondescent Testicle Bilateral Undescended Testes Bilateral Ectopic Testes
Hypogonadism
Normosmic Congenital Hypogonadotropic Hypogonadism	Normosmic Idiopathic Hypogonadotropic Hypogonadism Nihh
Precocious Puberty, Gonadotropin-Dependent
Glucocorticoid Deficiency 1	Acth Resistance Glucocorticoid Deficiency, Due To Acth Unresponsiveness GCCD1 Familial Glucocorticoid Deficiency 1 Fgd1 Adrenal Unresponsiveness To Acth Hereditary Unresponsiveness To Adrenocorticotropic Hormone Isolated Glucocorticoid Deficiency
Hypogonadotropic Hypogonadism	Klinefelter Syndrome Klinefelter'S Syndrome Xxy Syndrome Xxy Trisomy Hypogonadotropism 47, Xxy Congenital Idiopathic Hypogonadotropic Hypogonadism Isolated Congenital Gonadotropin Deficiency 47,Xxy Syndrome 47, Xxy Syndrome Klinefelters Syndrome Hypogonadism Klinefelter Syndrome In Males Klinefelter Syndrome, Unspecified Klinefelter Syndrome Karyotype 47, Xxy
Precocious Puberty, Central, 1	CPPB1 Central Precocious Puberty 1 Precocious Puberty, Central 1 Puberty, Precocious, Central, Type 1
Pituitary Stalk Interruption Syndrome	Ectopic Neurohypophysis Psis
Central Precocious Puberty	Cpp Gonadotropin-Dependant Precocious Puberty Gonadotropin-Dependent Precocious Puberty Precocious Puberty, Central
Leydig Cell Hypoplasia	46,Xy Disorder Of Sex Development Due To Lh Resistance Or Lhb Deficiency 46,Xy Disorder Of Sex Development Due To Luteinizing Hormone Resistance Or Luteinizing Hormone Beta Subunit Deficiency 46,Xy Dsd Due To Lh Resistance Or Lhb Deficiency 46,Xy Dsd Due To Luteinizing Hormone Resistance Or Luteinizing Hormone Beta Subunit Deficiency 46,Xy Disorder Of Sex Development Due To Lh Defects Lh Resistance Due To Lh Receptor Deactivation Leydig Cell Agenesis Male Hypergonadotropic Hypogonadism Due To Lhcgr Defect Male Pseudohermaphroditism Due To Lh Resistance Or Lhb Deficiency Male Pseudohermaphroditism Due To Luteinizing Hormone Resistance Or Luteinizing Hormone Beta Subunit Deficiency Lch Hypoplasia, Leydig Cell
Disorder Of Sexual Development	Disorder Of Sex Development Sex Development Disorder Sex Differentiation Disease Dsd Disorders Of Sex Development Sex Differentiation Disorders
Premature Menopause	Primary Ovarian Insufficiency Premature Ovarian Failure Hypergonadotropic Hypogonadism Premature Ovarian Insufficiency Menopause - Premature Menopause Praecox Menopause Premature Menopause, Premature Female Hypergonadotropic Hypogonadism Hypergonadotrophic Ovarian Failure Primary Female Hypogonadism Pof - [Premature Ovarian Failure] Ovarian Failure Ovarian Secretion Suppression Ovary Hyposecretion Ovary Secretion Deficiency Premature Menopause Nos
Charge Syndrome	Charge Association Hall-Hittner Syndrome Charge Association--Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital And Ear Anomalies Hhs Coloboma, Heart Anomaly, Choanal Atresia, Restriction Of Growth And Development, Genital And Ear Anomalies Coloboma-Heart Defects-Atresia Choanae-Retardation Of Growth And Development-Genitourinary Problems-Ear Abnormalities Syndrome CHARGES
Idiopathic Central Precocious Puberty

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Clinical Phase
Pre-clinical Phase

Clinical Phase

Bioactive Molecules (2)

製品番号	製品名	製品効果	純度	Phase
HY-P0076A	TAK-448 acetate		99.79%	Phase 2
HY-P2161	TAK-683		/	Phase 1

Pre-clinical Phase

Bioactive Molecules (8)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-P0076	TAK-448		99.90%	Unkown
HY-P10489	Kisspeptin-14 human		99.70%	Unkown
HY-P2161B	TAK-683 acetate		99.44%	Unkown
HY-RS07316	KISS1R Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-P2161A	TAK-683 TFA		/	Unkown
HY-P2191	KISS1-305		/	Unkown
HY-RS07317	Kiss1r Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS07318	Kiss1r Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

生物種	Symbol	由来	ID
Mus musculus	KISS1R	MGD	MGI:2148793
Macaca mulatta	KISS1R	VGNC	VGNC:82170
Bos taurus	KISS1R	VGNC	VGNC:30617
Canis familiaris	KISS1R	VGNC	VGNC:42421
Rattus norvegicus	KISS1R	RGD	RGD:70930
Felis catus	KISS1R	VGNC	VGNC:102622
Others	KISS1R	NCBI