1. Gene
  2. HELT - helt bHLH transcription factor Gene

HELT - helt bHLH transcription factor Gene

中文名称:hlt bHLH 转录因子

种属: Homo sapiens

同用名: Mgn; HESL; HCM1228; bHLHb44

基因 ID: 391723 | 基因类型: protein coding

关于 HELT

Cytogenetic location: 4q35.1 Genomic coordinates (GRCh38): 4:185,018,490-185,020,953 (from NCBI)

This gene has 4 transcripts (splice variants), 204 orthologues and 12 paralogues. Low expression observed in reference dataset.

功能概要

预测可实现 DNA 结合转录因子活性、RNA 聚合酶 II 特异性和 RNA 聚合酶 II 顺式调节区序列特异性 DNA 结合活性。预计参与前/后模式规范;调节神经发生; RNA 聚合酶 II 对转录的调控。预计在几个过程的上游或内部起作用,包括神经系统发育;通过 RNA 聚合酶 II 调节转录;和哺乳行为。预测是染色质的一部分。预计活跃于核心。 [由基因组资源联盟提供,2022 年 4 月]

Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in anterior/posterior pattern specification; regulation of neurogenesis; and regulation of transcription by RNA polymerase II. Predicted to act upstream of or within several processes, including nervous system development; regulation of transcription by RNA polymerase II; and suckling behavior. Predicted to be part of chromatin. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022]

HELT 基因产物(2)

mRNA Protein Name
NM_001300781.2 NP_001287710.1 hairy and enhancer of split-related protein HELT isoform 1
NM_001300782.2 NP_001287711.1 hairy and enhancer of split-related protein HELT isoform 2

HELT 蛋白结构

HLH

HLH: Helix-loop-helix DNA-binding domain (14 - 65)

Hairy_orange

Hairy_orange: Hairy Orange (85 - 126)

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

hairy and enhancer of split-related protein HELT

HES/HEY-like transcription factor

关联疾病

疾病名称 别名
Alzheimer Disease 5

Ad5

Alzheimer'S Disease 5

Alzheimer Disease, Familial, 5

Alzheimer Disease-5

Alzheimer Disease, Familial 5

Alzheimer'S Disease 5, Late Onset

Alzheimer Disease, Familial, Type 5

Atypical Autism

Pdd

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
Rattus norvegicus HELT RGD RGD:1564073
Bos taurus HELT VGNC VGNC:29806
Felis catus HELT VGNC VGNC:62791
Mus musculus HELT MGD MGI:3040955
Macaca mulatta HELT VGNC VGNC:73264
Canis familiaris HELT VGNC VGNC:41651