NHLH1 - nescient helix-loop-helix 1 Gene

Also Known as HEN1; NSCL; NSCL1; bHLHa35

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 4807

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	Verweise	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	Verweise	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

NHLH1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
Intra	NHLH1	Q02575	CENPP	Homo sapiens	Q6IPU0	Validated Y2H	32296183
Intra	NHLH1	Q02575	CCT7	Homo sapiens	Q99832	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

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

Pre-clinical Phase

Bioactive Molecules (1)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS09284	NHLH1 Human Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	NHLH1	NCBI