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

Hairy_orange

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

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS06117	HELT Human Pre-designed siRNA Set A		/	Unkown

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