2. Gene
  3. SOHLH1 - spermatogenesis and oogenesis specific basic helix-loop-helix 1 Gene

SOHLH1 - spermatogenesis and oogenesis specific basic helix-loop-helix 1 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：精子发生和卵子发生特异性基本螺旋-环-螺旋 1

种属: Homo sapiens

同用名: ODG5; TEB2; NOHLH; SPGF32; SPATA27; bHLHe80; C9orf157; bA100C15.3

基因 ID: 402381 | 基因类型: protein coding

关于 SOHLH1

Cytogenetic location: 9q34.3 Genomic coordinates (GRCh38): 9:135,693,407-135,702,112 (from NCBI)

This gene has 4 transcripts (splice variants), 65 orthologues, 1 paralogue and is associated with 3 phenotypes. Restricted expression toward testis (RPKM 2.3).

功能概要

该基因编码精子发生、卵子发生和卵泡发生所必需的睾丸特异性转录因子之一。该基因位于 9 号染色体上。该基因的突变与非梗阻性无精子症有关。已发现该基因编码不同亚型的可变剪接转录物变体。[RefSeq 提供，2013 年 8 月]

This gene encodes one of testis-specific transcription factors which are essential for spermatogenesis, oogenesis and folliculogenesis. This gene is located on chromosome 9. Mutations in this gene are associated with nonobstructive azoospermia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2013]

SOHLH1 基因产物(2)

mRNA Protein Name
NM_001012415.3 NP_001012415.3 spermatogenesis- and oogenesis-specific basic helix-loop-helix-containing protein 1 isoform b
NM_001101677.2 NP_001095147.2 spermatogenesis- and oogenesis-specific basic helix-loop-helix-containing protein 1 isoform a
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
32296183 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

SOHLH1 蛋白结构

HLH

HLH: Helix-loop-helix DNA-binding domain (59 - 102)

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

spermatogenesis- and oogenesis-specific basic helix-loop-helix-containing protein 1

newborn ovary helix loop helix

SOHLH1 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
SOHLH1 Q5JUK2 HEMK1 Homo sapiens Q9Y5R4
Validated Y2H
32296183
种属内
SOHLH1 Q5JUK2 KRTAP19-5 Homo sapiens Q3LI72
Y2H Prey Pooling
32296183
种属内
SOHLH1 Q5JUK2 KRTAP19-5 Homo sapiens Q3LI72
Y2H Array
32296183
种属内
SOHLH1 Q5JUK2 CTAG1A Homo sapiens P78358
Y2H Prey Pooling
32296183
种属内
SOHLH1 Q5JUK2 CTAG1A Homo sapiens P78358
Y2H Array
32296183
种属内
SOHLH1 Q5JUK2 ZMYND12 Homo sapiens Q9H0C1
Y2H Array
32296183
种属内
SOHLH1 Q5JUK2 ZMYND12 Homo sapiens Q9H0C1
Y2H Prey Pooling
32296183
种属内
SOHLH1 Q5JUK2 ZMYND12 Homo sapiens Q9H0C1
Validated Y2H
32296183
种属内
SOHLH1 Q5JUK2 CERCAM Homo sapiens Q5T4B2
Y2H Array
32296183
种属内
SOHLH1 Q5JUK2 CERCAM Homo sapiens Q5T4B2
Y2H Prey Pooling
32296183
种属内
SOHLH1 Q5JUK2 CERCAM Homo sapiens Q5T4B2
Validated Y2H
32296183
种属内
SOHLH1 Q5JUK2 C10orf55 Homo sapiens Q5SWW7
Y2H Prey Pooling
32296183
种属内
SOHLH1 Q5JUK2 C10orf55 Homo sapiens Q5SWW7
Validated Y2H
32296183
种属内
SOHLH1 Q5JUK2 C10orf55 Homo sapiens Q5SWW7
Y2H Array
32296183
种属内
SOHLH1 Q5JUK2 STH Homo sapiens Q8IWL8
Y2H Array
32296183
种属内
SOHLH1 Q5JUK2 STH Homo sapiens Q8IWL8
Y2H Prey Pooling
32296183
种属内
SOHLH1 Q5JUK2 STH Homo sapiens Q8IWL8
Validated Y2H
32296183
种属内
SOHLH1 Q5JUK2 FAM222B Homo sapiens Q8WU58
Validated Y2H
32296183
种属内
SOHLH1 Q5JUK2 PFDN5 Homo sapiens Q99471
Validated Y2H
32296183
种属内
SOHLH1 Q5JUK2 PFDN5 Homo sapiens Q99471
Y2H Array
32296183
种属内
SOHLH1 Q5JUK2 PFDN5 Homo sapiens Q99471
Y2H Prey Pooling
32296183
种属内
SOHLH1 Q5JUK2 TRAF1 Homo sapiens Q13077
Y2H Prey Pooling
32296183
种属内
SOHLH1 Q5JUK2 TRAF1 Homo sapiens Q13077
Y2H Array
32296183
种属内
SOHLH1 Q5JUK2 CASP3 Homo sapiens P42574
Y2H Array
32296183
种属内
SOHLH1 Q5JUK2 CASP3 Homo sapiens P42574
Y2H Prey Pooling
32296183
种属内
SOHLH1 Q5JUK2 OIP5 Homo sapiens O43482
Y2H Prey Pooling
32296183
种属内
SOHLH1 Q5JUK2 OIP5 Homo sapiens O43482
Y2H Array
32296183
种属内
SOHLH1 Q5JUK2 PSMB4 Homo sapiens P28070
Y2H Array
32296183
种属内
SOHLH1 Q5JUK2 PSMB4 Homo sapiens P28070
Y2H Prey Pooling
32296183
种属内
SOHLH1 Q5JUK2 RUSC1 Homo sapiens Q9BVN2
Validated Y2H
32296183
种属内
SOHLH1 Q5JUK2 RUSC1 Homo sapiens Q9BVN2
Y2H Array
32296183
种属内
SOHLH1 Q5JUK2 RUSC1 Homo sapiens Q9BVN2
Y2H Prey Pooling
32296183
种属内
SOHLH1 Q5JUK2 PEF1 Homo sapiens Q9UBV8
Validated Y2H
32296183
种属内
SOHLH1 Q5JUK2 USHBP1 Homo sapiens Q8N6Y0
Validated Y2H
32296183
种属内
SOHLH1 Q5JUK2 DTX2 Homo sapiens Q86UW9
Validated Y2H
32296183
种属内
SOHLH1 Q5JUK2 NUP54 Homo sapiens Q7Z3B4
Validated Y2H
32296183
种属内
SOHLH1 Q5JUK2 TENT5B Homo sapiens Q96A09
Validated Y2H
32296183
种属内
SOHLH1 Q5JUK2 ARID5A Homo sapiens Q03989
Y2H Array
32296183
种属内
SOHLH1 Q5JUK2 ARID5A Homo sapiens Q03989
Y2H Prey Pooling
32296183
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
Spermatogenic Failure 32

SPGF32
Ovarian Dysgenesis 5

ODG5

Dysgenesis, Ovarian, Type 5
Spermatogenic Failure

Azoospermia

Spgf

Spermatogenic Failure, Susceptibility To

Absent Sperm

Aspermatogenesis

Infertility Due To Azoospermia

Hypospermatogenesis

Azoospermatism
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Spastic Paraplegia 24, Autosomal Recessive

SPG24

Spastic Paraplegia 24

Hereditary Spastic Paraplegia 24

Autosomal Recessive Spastic Paraplegia Type 24

Autosomal Recessive Spastic Paraplegia 24
Uterine Hypoplasia
Atrophy Of Testis

Atrophic Testicle

Atrophy Of Testicle

Testicular Atrophy
Galactosemia I

Galactosemia

Galt Deficiency

Classic Galactosemia

Galactose-1-Phosphate Uridylyltransferase Deficiency

Galactose-1-Phosphate Uridyltransferase Deficiency

GALAC1

Galactosemia, Classic

Galactosemia Type 1

Galactosemias

Classical Galactosemia

Galactosaemia

Galactose Intolerance

Epimerase Deficiency Galactosemia

Galactokinase Deficiency Disease

Galactose Epimerase Deficiency

Galactose-1-Phosphate Uridyl-Transferase Deficiency Disease

Gale Deficiency

Galk Deficiency

Udp-Galactose-4-Epimerase Deficiency Disease

Utp Hexose-1-Phosphate Uridylyltransferase Deficiency

Galactosemia 1

Galactosemia, Duarte Variant

Deficiency Of Galactokinase

Udpglucose 4-Epimerase Deficiency Disease

Classical Galactosaemia

Galput Deficiency - [Galactose-4-Phosphate Uridyltransferase] Deficiency

Classic Galactosaemia

Deficiency Of Hexose-1-Phosphate Uridylyltransferase

Deficiency Of Udpglucose-Hexose-1-Phosphate Uridylyltransferase

Deficiency Of Galactose-1-Phosphate Uridylyltransferase

Galactose-1-Phosphate Uridyl Transferase Deficiency

Transferase Deficiency Galactosemia

Deficiency Of Uridyl Transferase

Deficiency Of Utp-Hexose-1-Phosphate Uridylyltransferase

Utp-Hexose-1-Phosphate Uridyltransferase Deficiency
Hereditary Spastic Paraplegia 56

Autosomal Recessive Spastic Paraplegia Type 56

Spg56

Autosomal Recessive Spastic Paraplegia 56
Spermatogenic Failure 10

SPGF10

Spermatogenic Failure With Defective Sperm Annulus
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
46 Xx Gonadal Dysgenesis

Ovarian Dysgenesis

Gonadal Dysgenesis, 46,Xx

Dysgenesis, Ovarian
Spermatogenic Failure, X-Linked, 1

Sertoli Cell-Only Syndrome

Germinal Cell Aplasia

Del Castillo Syndrome

SPGFX1

X-Linked Spermatogenic Failure 1

Congenital Absence Of Germinal Epithelium Of Testes
Multiple Synostoses Syndrome

Symphalangism-Brachydactyly Syndrome

Deafness-Hermann Type Symphalangism Syndrome

Facio-Audio-Symphalangism

Hearing Loss-Hermann Type Symphalangism Syndrome

Wl Syndrome

Multiple Synostosis Syndrome
Perrault Syndrome

Gonadal Dysgenesis, Xx Type, With Deafness

Ovarian Dysgenesis With Sensorineural Deafness

Gonadal Dysgenesis, Xx Type

Gonadal Dysgenesis With Auditory Dysfunction, Autosomal Recessive Inheritance

Gonadal Dysgenesis With Sensorineural Deafness, Autosomal Recessive Inheritance

Xx Gonodal Dysgenesis-Deafness Syndrome

Xx Gonodal Dysgenesis-Hearing Loss Syndrome

Gonadal Dysgenesis Xx Type Deafness
Disorder Of Sexual Development

Disorder Of Sex Development

Disorders Of Sex Development

Sex Development Disorder

Sex Differentiation Disease

Dsd

Sex Differentiation Disorders
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
Fanconi Anemia, Complementation Group A

Fanconi Anemia

Fanconi Pancytopenia

Fanconi Anemia Complementation Group A

FANCA

Fa

Fanconi Panmyelopathy

Fanconi'S Anemia

Fanconi Anaemia

Fanconi'S Anaemia

Fanconi Hypoplastic Anemia

Estren-Dameshek Variant Of Fanconi Anemia

Estren-Dameshek Variant Of Fanconi Pancytopenia

Fanconi Anemia Estren-Dameshek Variant

Fanconis Anemia
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS13564 SOHLH1 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus SOHLH1 RGD RGD:1564440
Felis catus SOHLH1 VGNC VGNC:102984
Canis familiaris SOHLH1 VGNC VGNC:46656
Mus musculus SOHLH1 MGD MGI:2684956
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