NHLH1

NHLH1
Identifiers
Aliases	NHLH1, HEN1, NSCL, NSCL1, bHLHa35, nescient helix-loop-helix 1
External IDs	OMIM: 162360 MGI: 98481 HomoloGene: 4089 GeneCards: NHLH1
Gene location (Human)
Chr.	Chromosome 1 (human)
End	160,372,846 bp
Gene location (Mouse)
Chr.	Chromosome 1 (mouse)
End	171,885,140 bp
RNA expression pattern
	Top expressed in
	ganglionic eminence; ; putamen; ; caudate nucleus; ; prefrontal cortex; ; nucleus accumbens; ; superior frontal gyrus; ; hippocampal formation; ; hypothalamus; ; hippocampus proper; ; cingulate gyrus;
	Top expressed in
	urethra; ; female urethra; ; male urethra; ; respiratory epithelium; ; olfactory epithelium; ; Jacobson's organ; ; ganglionic eminence; ; trigeminal ganglion; ; posterior horn of spinal cord; ; spinal ganglia;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	DNA-binding transcription activator activity, RNA polymerase II-specific; DNA binding; RNA polymerase II transcription regulatory region sequence-specific DNA binding; protein dimerization activity; DNA-binding transcription factor activity, RNA polymerase II-specific; protein binding;
Cellular component	nucleus;
Biological process	multicellular organism development; central nervous system development; cell differentiation; regulation of transcription, DNA-templated; transcription, DNA-templated; positive regulation of transcription by RNA polymerase II; transcription by RNA polymerase II; regulation of transcription by RNA polymerase II;
	Sources:Amigo / QuickGO
Orthologs
	4807
	18071
	ENSG00000171786
	ENSMUSG00000051251
	Q02575; Q5T203
	Q02576
	NM_005598
	NM_010916
	NP_005589; NP_005589.1
	NP_035046
	Wikidata
View/Edit Human	View/Edit Mouse

Helix-loop-helix protein 1 is a protein that in humans is encoded by the NHLH1 gene.^[5]

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]^[5]

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000171786 - Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000051251 - Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
1 2 "Entrez Gene: NHLH1 nescient helix loop helix 1".

Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.
Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID 16189514. S2CID 4427026.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
Manetopoulos C, Hansson A, Karlsson J, et al. (2003). "The LIM-only protein LMO4 modulates the transcriptional activity of HEN1". Biochem. Biophys. Res. Commun. 307 (4): 891–9. doi:10.1016/S0006-291X(03)01298-1. PMID 12878195.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
Bao J, Talmage DA, Role LW, Gautier J (2000). "Regulation of neurogenesis by interactions between HEN1 and neuronal LMO proteins". Development. 127 (2): 425–35. doi:10.1242/dev.127.2.425. PMID 10603358.
Begley CG, Lipkowitz S, Göbel V, et al. (1992). "Molecular characterization of NSCL, a gene encoding a helix-loop-helix protein expressed in the developing nervous system". Proc. Natl. Acad. Sci. U.S.A. 89 (1): 38–42. Bibcode:1992PNAS...89...38B. doi:10.1073/pnas.89.1.38. PMC 48170. PMID 1729708.
Brown L, Espinosa R, Le Beau MM, et al. (1992). "HEN1 and HEN2: a subgroup of basic helix-loop-helix genes that are coexpressed in a human neuroblastoma". Proc. Natl. Acad. Sci. U.S.A. 89 (18): 8492–6. Bibcode:1992PNAS...89.8492B. doi:10.1073/pnas.89.18.8492. PMC 49946. PMID 1528853.
Lipkowitz S, Göbel V, Varterasian ML, et al. (1992). "A comparative structural characterization of the human NSCL-1 and NSCL-2 genes. Two basic helix-loop-helix genes expressed in the developing nervous system". J. Biol. Chem. 267 (29): 21065–71. doi:10.1016/S0021-9258(19)36798-5. PMID 1328219.

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[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000171786 - Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000051251 - Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-5] 1 2 "Entrez Gene: NHLH1 nescient helix loop helix 1".

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References

Further reading