1. Gene
  2. SRY - sex determining region Y Gene

SRY - sex determining region Y Gene

中文名称:性别决定区 Y

种属: Homo sapiens

同用名: TDF; TDY; SRXX1; SRXY1

基因 ID: 6736 | 基因类型: protein coding

关于 SRY

Cytogenetic location: Yp11.2 Genomic coordinates (GRCh38): Y:2,786,855-2,787,682 (from NCBI)

This gene has 1 transcript (splice variant), 216 orthologues, 20 paralogues and is associated with 8 phenotypes.

功能概要

这种无内含子的基因编码的转录因子是 DNA 结合蛋白高迁移率族 (HMG) -box 家族的成员。这种蛋白质是睾丸决定因子 (TDF) ,它启动男性性别决定。该基因的突变会导致 XY 女性出现性腺发育不全 (Swyer 综合征) ;含有该基因的 Y 染色体的一部分易位到 X 染色体会导致 XX 男性综合症。[RefSeq 提供,2008 年 7 月]

This intronless gene encodes a transcription factor that is a member of the high mobility group (HMG)-box family of DNA-binding proteins. This protein is the testis-determining factor (TDF), which initiates male sex determination. Mutations in this gene give rise to XY females with gonadal dysgenesis (Swyer syndrome); translocation of part of the Y chromosome containing this gene to the X chromosome causes XX male syndrome. [provided by RefSeq, Jul 2008]

SRY 基因产物(1)

mRNA Protein Name
NM_003140.3 NP_003131.1 sex-determining region Y protein
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables DNA binding IDA
IDA: 通过直接分析推断
1425584 GOA
enables DNA-binding transcription factor activity, RNA polymerase II-specific IDA
IDA: 通过直接分析推断
21412441 GOA
enables DNA-binding transcription factor binding IPI
IPI: 通过物理相互作用推断
16582099 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
9054412 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in positive regulation of DNA-templated transcription IDA
IDA: 通过直接分析推断
21412441 GOA
involved in positive regulation of gene expression IDA
IDA: 通过直接分析推断
24681825 GOA
involved in positive regulation of male gonad development IDA
IDA: 通过直接分析推断
21412441 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in nucleus IDA
IDA: 通过直接分析推断
21412441 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

SRY 蛋白结构

HMG_box

HMG_box: HMG (high mobility group) box (60 - 128)

  • 0
  • 100
  • 204 a.a.
蛋白主名 其他名称

sex-determining region Y protein

essential protein for sex determination in human males

SRY 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
Intra SRY Q05066 NHERF2 Homo sapiens Q15599
IF
16166090
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
46,Xx Sex Reversal 1

46,Xx Testicular Disorder Of Sex Development

46,Xx Gonadal Dysgenesis

SRXX1

46,Xx Gonadal Dysgenesis, Complete, Sry-Positive

46,Xx Testicular Dsd

Xx Male Syndrome

46,Xx Complete Gonadal Dysgenesis

46,Xx Pure Gonadal Dysgenesis

Follicular Stimulating Hormone-Resistant Ovaries

Hypergonadotropic Ovarian Dysgenesis

Ovotesticular Disorder Of Sex Development

46,Xx Sex Reversal, Sry-Positive

Xx Male, Sry-Positive

46xx Sex Reversal 1

46, Xx Gonadal Sex Reversal

Xx Sex Reversal

46,Xx Ovarian Dysgenesis

Fsh-Ro

Xx Female Gonadal Dysgenesis

Xx-Gd

46,Xx Ovotesticular Disorder Of Sex Development

46,Xx Ovotesticular Dsd

De La Chapelle Syndrome

Xx, Male Syndrome

46,Xx Gonadal Dysgenesis Complete Sry-Positive

46,Xx Sex Reversal Sry-Positive

46,Xx True Hermaphroditism Sry-Positive

Ovotesticular Dsd

Xx Male Sry-Positive

Ovotesticular Disorders Of Sex Development

46, Xx Testicular Disorders Of Sex Development

Resistant Ovary Syndrome

Dysgenetic Ovaries

Fsh-Ro - [Follicular Stimulating Hormone-Resistant Ovaries]

True Hermaphroditism

Ovotestis

True Hermaphrodite

46,Xy Sex Reversal 1

SRXY1

46,Xy Gonadal Dysgenesis, Complete, Sry-Related

46,Xy Sex Reversal, Sry-Related

Swyer Syndrome

46xy Sex Reversal 1

46,Xy Gonadal Dysgenesis Complete Sry-Related

46,Xy Sex Reversal Sry-Related

46,Xy True Hermaphroditism Sry-Related

Gonadal Dysgenesis Xy Female Type

Xy Females

46,Xy True Hermaphroditism, Sry-Related

Gonadal Dysgenesis, 46,Xy

46, Xy Female

46,Xy Sex Reversal

Swyer Syndrome

Pure Gonadal Dysgenesis 46,Xy

Gonadal Dysgenesis, Xy Female Type

Gonadal Dysgenesis, 46,Xy

46,Xy Cgd

46,Xy Complete Gonadal Dysgenesis

46,Xy Pure Gonadal Dysgenesis

46 Xy Gonadal Dysgenesis

46, Xy Cgd

46, Xy Complete Gonadal Dysgenesis

46, Xy Pure Gonadal Dysgenesis

Xy Pure Gonadal Dysgenesis

Female With 46,Xy Karyotype

Xy Females

46,Xy Partial Gonadal Dysgenesis

46,Xy Pgd

46,Xy Partial Testicular Dysgenesis

45,X/46,Xy Mixed Gonadal Dysgenesis

45,X/46,Xy Mgd

45,X0/46,Xy Mgd

45,X0/46,Xy Mixed Gonadal Dysgenesis

Gonadal Dysgenesis

Gonadal Dysgenesis Syndrome

Turner Syndrome

Syndrome With 46,Xy Disorder Of Sex Development

46,Xy Disorder Of Sex Development

Syndrome With 46,Xy Dsd

46,Xy Dsd

46,Xy Dsd Due To A Defect In Testosterone Metabolism

Androgen Resistance Syndrome

Testicular Feminization Syndrome

Androgen Insensitivity Syndrome

Goldberg-Maxwell Syndrome

Morris Syndrome

Male Pseudohermaphroditism With Androgen Resistance

Peripheral Androgen Receptor Disorder

Goldberg-Morris Syndrome

Syndrome Of Feminising Testes

Syndrome Of Feminizing Testes

Testicular Feminisation

Testicular Feminisation Syndrome

Male Pseudohermaphroditism With Feminizing Testis

Tfm - [Testicular Feminisation Syndrome]

Mixed Gonadal Dysgenesis

Gonadal Dysgenesis Mixed

Gonadal Dysgenesis, Mixed

Turner Syndrome

Monosomy X

Gonadal Dysgenesis Turner Type

Ullrich-Turner Syndrome

Bonnevie-Ullrich Syndrome

Karyotype 45, X

Genital Dwarfism, Turner Type

Gonadal Dysgenesis

45,X

Turner'S Syndrome

Gonadal Dysgenesis - Turner

Monosomy X Syndrome

Xo Syndrome

Genital Dwarfism

45, X Syndrome

Bonnevie-Ulrich Syndrome

Chromosome X Monosomy X

Schereshevkii Turner Syndrome

Turner Varny Syndrome

Ts

45,X Syndrome

45,X/46,Xx Syndrome

Turners Syndrome

Gonadal Dysgenesis, 45,X

X0 Syndrome

46,Xx Sex Reversal

46,Xx Testicular Disorder Of Sex Development

46,Xx Testicular Dsd

De La Chapelle Syndrome

Srxx

Xx, Male Syndrome

46, Xx Testicular Disorders Of Sex Development

Gonadoblastoma

GBY

Campomelic Dysplasia

Acampomelic Campomelic Dysplasia

Camptomelic Dysplasia

Campomelic Dysplasia With Autosomal Sex Reversal

Cmpd

CMD1

Cmpd1

Cmpd1/Sra1

Acampomelic Campomelic Dysplasia With Autosomal Sex Reversal

Campomelic Dwarfism

Campomelic Syndrome

Dysplasia, Campomelic

Chronic Myeloproliferative Disorder

Familial Dilated Cardiomyopathy

46,Xy Sex Reversal 11

Testicular Regression Syndrome

Trs

SRXY11

Testicular Regression, Embryonic

Xy Gonadal Agenesis/Dysgenesis Syndrome

Anorchia, Familial

46, Xy Sex Reversal 11

Etrs

Embryonic Testicular Regression Syndrome

Vanishing Testes Syndrome

Vanishing Testis Syndrome

Xy Gonadal Agenesis Syndrome

Androgen Insensitivity Syndrome

Androgen Resistance Syndrome

AIS

Testicular Feminization Syndrome

Androgen Receptor Deficiency

Dhtr Deficiency

Dihydrotestosterone Receptor Deficiency

Ar Deficiency

Testicular Feminization

Tfm

Androgen Insensitivity

Androgen-Insensitivity Syndrome

Goldberg-Maxwell Syndrome

Complete Androgen Insensitivity Syndrome

Cais

Feminisation - Testicular

Goldberg - Maxwell Syndrome

Androgen Insensitivity Syndrome, Complete

Morris Syndrome

Ary

AR

Insensitivity Syndrome, Androgen

Androgen Insensitivity Nos

Hypospadias

Hypospadias Familial

Familial Hypospadias

Gynecomastia
Frasier Syndrome

FS

Complete Androgen Insensitivity Syndrome

Cais

Complete Androgen Resistance Syndrome

Androgen Insensitivity Syndrome Complete

Androgen Insensitivity, Complete

Androgen-Insensitivity Syndrome

Testicular Feminization

Leri-Weill Dyschondrosteosis

LWD

Dyschondrosteosis

Dco

Léri-Weill Dyschondrosteosis

Leri Weill Dyschondrosteosis

Leri-Weill Syndrome

Leri-Weil Syndrome

Dyschondrosteosis, Leri-Weill

Dysgerminoma
Male Infertility

Infertility, Male

Infertility Male

Male Sterility

Absolute Infertility

Pseudohermaphroditism

Indeterminate Sex And Pseudohermaphroditism

Disorder Of Sexual Development

Disorder Of Sex Development

Disorders Of Sex Development

Sex Development Disorder

Sex Differentiation Disease

Dsd

Sex Differentiation Disorders

Lipoid Congenital Adrenal Hyperplasia

Congenital Adrenal Hyperplasia

Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency

Congenital Lipoid Adrenal Hyperplasia

Lipoid Cah

Lipoid Adrenal Hyperplasia

Adrenal Hyperplasia 1

Cah

Clah

LCAH

Adrenal Hyperplasia I

Lipoid Hyperplasia, Congenital, Of Adrenal Cortex With Male Pseudohermaphroditism

Congenital Adrenal Hyperplasia Lipoid

Adrenal Hyperplasia, Congenital

Congenital Adrenal Hyperplasia, Lipoid

AH1

Congenital Lipoid Hyperplasia Of Adrenal Cortex With Male Pseudohermaphroditism

Adrenal Hyperplasia Congenital

Hyperplasia, Adrenal, Lipoid, Congenital

Congenital Adrenogenital Disorders Associated With Enzyme Deficiency

Congenital Adrenal Cortical Hyperplasia

Congenital Adrenal Gland Hyperplasia

Congenital Adrenogenital Syndrome

Congenital Hyperadrenocorticism

Congenital Adrenogenitalism

Congenital Female Adrenal Pseudohermaphroditism

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 SRY MGD MGI:98660
Rattus norvegicus SRY RGD RGD:3759