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  2. KISS1R - KISS1 receptor Gene

KISS1R - KISS1 receptor Gene

中文名称:KISS1 受体

种属: Homo sapiens

同用名: HH8; CPPB1; GPR54; AXOR12; KISS-1R; HOT7T175

基因 ID: 84634 | 基因类型: protein coding

关于 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.

功能概要

由该基因编码的蛋白质是一种甘丙肽样 G 蛋白偶联受体,可结合转移抑制素,转移抑制素是一种由转移抑制基因 KISS1 编码的肽。表达基因的组织分布表明它参与了内分泌功能的调节,这一点得到了该基因似乎在青春期开始中起作用的发现的支持。该基因的突变与低促性腺激素性性腺功能减退症和中枢性性早熟有关。[RefSeq 提供,2008 年 7 月]

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 基因产物(2)

mRNA Protein Name
XM_047439545.1 XP_047295501.1 kiSS-1 receptor isoform X1
NM_032551.5 NP_115940.2 kiSS-1 receptor
基因本体论
  • 分子功能
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables neuropeptide receptor activity IDA
IDA: 通过直接分析推断
11387329 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
11387329 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cilium IDA
IDA: 通过直接分析推断
28154160 GOA
located in membrane IDA
IDA: 通过直接分析推断
11387329 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

KISS1R 蛋白结构

7tm_1

7tm_1: 7 transmembrane receptor (rhodopsin family) (59 - 323)

  • 0
  • 100
  • 200
  • 300
  • 398 a.a.
蛋白主名 其他名称

kiSS-1 receptor

G protein-coupled receptor 54

G-protein coupled receptor OT7T175

hypogonadotropin-1

kisspeptins receptor

metastin receptor

KISS1R 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
KISS1R Q969F8 GNAQ Homo sapiens P50148
Pull Down
18772143
种属内
KISS1R Q969F8 PPP2CA Homo sapiens P67775
Pull Down
18977201
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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
疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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