NHLH1 - nescient helix-loop-helix 1 Gene

Homo sapiens

Also known as HEN1; NSCL; NSCL1; bHLHa35

Gene ID: 4807 | Gene type: protein coding

About 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.

Summary

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 Products(1)

mRNA	Protein	Name
NM_005598.4	NP_005589.1	helix-loop-helix protein 1

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	Reference	Source
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IDA IDA: Inferred from direct assay	12878195	GOA
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA IDA: Inferred from direct assay	12878195	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA
enables sequence-specific double-stranded DNA binding	IDA IDA: Inferred from direct assay	28473536	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in positive regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	12878195	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

NHLH1 Protein Structure

HLH

0
100
133 a.a.

Protein Preferred Names

Protein Names

helix-loop-helix protein 1

HEN-1

Related Diseases

Diseases

Alias

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

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS09284	NHLH1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	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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