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

HELT - helt bHLH transcription factor Gene

Homo sapiens

Also known as Mgn; HESL; HCM1228; bHLHb44

Gene ID: 391723 | Gene type: protein coding

About 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.

Summary

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 Products(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 Protein Structure

HLH

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

Hairy_orange

Hairy_orange: Hairy Orange (85 - 126)

  • 0
  • 100
  • 200
  • 242 a.a.
Protein Preferred Names Protein Names

hairy and enhancer of split-related protein HELT

HES/HEY-like transcription factor

Related Diseases

Diseases Alias
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

Diseases Alias
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

Orthologs Information

Species Symbol Source 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