2. Gene
  3. NHLH1 - nescient helix-loop-helix 1 Gene

NHLH1 - nescient helix-loop-helix 1 Gene

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

中文名称：新生螺旋-环-螺旋 1

种属: Homo sapiens

同用名: HEN1; NSCL; NSCL1; bHLHa35

基因 ID: 4807 | 基因类型: protein coding

关于 NHLH1

Cytogenetic location: 1q23.2 Genomic coordinates (GRCh38): 1:160,367,071-160,372,846 (from NCBI)

This gene has 1 transcript (splice variant), 97 orthologues and 4 paralogues. Low expression observed in reference dataset.

功能概要

螺旋-环-螺旋 (HLH) 蛋白是一个假定的转录因子家族，其中一些已被证明在多种组织和物种的生长和发育中发挥重要作用。该家族的四个成员通过参与淋巴肿瘤的染色体易位而明确参与肿瘤发生：MYC (MIM 190080) 、LYL1 (MIM 151440) 、E2A (MIM 147141) 和 SCL (MIM 187040) 。[OMIM 提供, 2002 年 11 月]

The helix-loop-helix (HLH) proteins are a family of putative transcription factors, some of which have been shown to play an important role in growth and development of a wide variety of tissues and species. Four members of this family have been clearly implicated in tumorigenesis via their involvement in chromosomal translocations in lymphoid tumors: MYC (MIM 190080), LYL1 (MIM 151440), E2A (MIM 147141), and SCL (MIM 187040).[supplied by OMIM, Nov 2002]

NHLH1 基因产物(1)

mRNA Protein Name
NM_005598.4 NP_005589.1 helix-loop-helix protein 1
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 DNA-binding transcription activator activity, RNA polymerase II-specific IDA
IDA: 通过直接分析推断
12878195 GOA
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA
IDA: 通过直接分析推断
12878195 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
32296183 GOA
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 positive regulation of transcription by RNA polymerase II IDA
IDA: 通过直接分析推断
12878195 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

NHLH1 蛋白结构

HLH

HLH: Helix-loop-helix DNA-binding domain (77 - 127)

  • 0
  • 100
  • 133 a.a.
蛋白主名 其他名称

helix-loop-helix protein 1

HEN-1

NHLH1 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
NHLH1 Q02575 CENPP Homo sapiens Q6IPU0
Validated Y2H
32296183
种属内
NHLH1 Q02575 CCT7 Homo sapiens Q99832
Validated Y2H
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
Cleft Palate, Isolated

Cleft Palate

Isolated Cleft Palate

CPI

Cp

Palatoschisis

Cleft Palate Isolated

Uranostaphyloschisis

Congenital Fissure Of Palate

Cleft Of Secondary Palate
Neuroblastoma

Nb

Neuroblastoma, Susceptibility To

Neuroblastomas

Central Neuroblastoma
Spermatogenic Failure 10

SPGF10

Spermatogenic Failure With Defective Sperm Annulus
Orofacial Cleft

Cleft, Orofacial
Van Der Woude Syndrome

Lip-Pit Syndrome

Vws

Cleft Lip And/Or Palate With Mucous Cysts Of Lower Lip

Vdws

Lps

Lip Pit Syndrome

Cleft Lip/Palate With Mucous Cysts Of Lower Lip

Myopathy, Actin, Congenital, With Excess Of Thin Myofilaments
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-RS09284 NHLH1 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Bos taurus NHLH1 VGNC VGNC:32065
Rattus norvegicus NHLH1 RGD RGD:1310261
Felis catus NHLH1 VGNC VGNC:107903
Canis familiaris NHLH1 VGNC VGNC:43798
Mus musculus NHLH1 MGD MGI:98481
Macaca mulatta NHLH1 VGNC VGNC:75347
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