2. Gene
  3. HES5 - hes family bHLH transcription factor 5 Gene

HES5 - hes family bHLH transcription factor 5 Gene

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

中文名称：hes 家族 bHLH 转录因子 5

种属: Homo sapiens

同用名: bHLHb38

基因 ID: 388585 | 基因类型: protein coding

关于 HES5

Cytogenetic location: 1p36.32 Genomic coordinates (GRCh38): 1:2,528,745-2,530,263 (from NCBI)

This gene has 1 transcript (splice variant), 1 gene allele, 726 orthologues and 12 paralogues. Low expression observed in reference dataset.

功能概要

该基因编码基本螺旋-环-螺旋转录抑制因子家族的成员。该基因的蛋白质产物在 Notch 通路的下游被激活，可调节多种组织中的细胞分化。该基因正常表达的破坏与发育疾病和癌症有关。[RefSeq 提供，2008 年 12 月]

This gene encodes a member of a family of basic helix-loop-helix transcriptional repressors. The protein product of this gene, which is activated downstream of the Notch pathway, regulates cell differentiation in multiple tissues. Disruptions in the normal expression of this gene have been associated with developmental diseases and Cancer. [provided by RefSeq, Dec 2008]

HES5 基因产物(1)

mRNA Protein Name
NM_001010926.4 NP_001010926.1 transcription factor HES-5
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables sequence-specific double-stranded DNA binding IDA
IDA: 通过直接分析推断
28473536 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in Notch signaling pathway IMP
IMP: 通过突变表型推断
19682396 GOA
involved in cartilage development IDA
IDA: 通过直接分析推断
17093926 GOA
involved in negative regulation of stem cell differentiation IMP
IMP: 通过突变表型推断
19682396 GOA
involved in neuronal stem cell population maintenance IEP
IEP: 通过表达模式推断
19682396 GOA
involved in positive regulation of cell population proliferation IMP
IMP: 通过突变表型推断
17849174 GOA
involved in positive regulation of smooth muscle cell proliferation IGI
IGI: 通过遗传相互作用推断
19855400 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

HES5 蛋白结构

HLH

HLH: Helix-loop-helix DNA-binding domain (18 - 71)

Hairy_orange

Hairy_orange: Hairy Orange (86 - 122)

  • 0
  • 100
  • 166 a.a.
蛋白主名 其他名称

transcription factor HES-5

class B basic helix-loop-helix protein 38

关联疾病

疾病名称 别名
Large Intestine Adenoma

Adenoma Of Large Intestine
Alagille Syndrome 1

Alagille Syndrome

Arteriohepatic Dysplasia

Alagille-Watson Syndrome

Cholestasis With Peripheral Pulmonary Stenosis

Hepatic Ductular Hypoplasia

Alagille Syndrome Due To A Jag1 Point Mutation

ALGS1

Algs

Aws

Syndromic Bile Duct Paucity

Cardiovertebral Syndrome

Hepatofacioneurocardiovertebral Syndrome

Paucity Of Interlobular Bile Ducts

Watson-Miller Syndrome

Alagille Syndrome Due To 20p12 Microdeletion

Ahd

Hepatic Ductular Hypoplasia, Syndromatic

Watson Alagille Syndrome

Alagille'S Syndrome

Alagille Syndrome Due To Del(20)(P12)

Alagille Syndrome Due To Monosomy 20p12

Alagille-Watson Syndrome Due To Monosomy 20p12

Arteriohepatic Dysplasia Due To Monosomy 20p12

Syndromic Bile Duct Paucity Due To Monosomy 20p12

Alagille-Watson Syndrome Due To A Jag1 Point Mutation

Arteriohepatic Dysplasia Due To A Jag1 Point Mutation

Syndromic Bile Duct Paucity Due To A Jag1 Point Mutation

Alagille Syndrome, Type 1
Chromosome 1p36 Deletion Syndrome

1p36 Deletion Syndrome

Deletion 1p36

Monosomy 1p36

Subtelomeric 1p36 Deletion

Monosomy 1p36 Syndrome

Distal Monosomy 1p36

Del(1)(P36)

Deletion 1pter

Monosomy 1pter
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 (3)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-120782 Yhhu-3792 Activator 99.76% 否
HY-120782A Yhhu-3792 hydrochloride Activator / 否
HY-RS06138 HES5 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Mus musculus HES5 MGD MGI:104876
Felis catus HES5 VGNC VGNC:107554
Macaca mulatta HES5 VGNC VGNC:106381
Bos taurus HES5 VGNC VGNC:29822
Rattus norvegicus HES5 RGD RGD:621340
Canis familiaris HES5 VGNC VGNC:41666
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