NHLH1

Nescient helix loop helix 1
Identifiers
Symbols	NHLH1 ; HEN1; NSCL; NSCL1; bHLHa35
External IDs	OMIM: 162360 MGI: 98481 HomoloGene: 4089 GeneCards: NHLH1 Gene
Gene ontology Molecular function • RNA polymerase II regulatory region sequence-specific DNA binding • transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding • protein dimerization activity Cellular component • nucleus Biological process • transcription from RNA polymerase II promoter • central nervous system development • cell differentiation • positive regulation of transcription from RNA polymerase II promoter Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	4807	18071
Ensembl	ENSG00000171786	ENSMUSG00000051251
UniProt	Q02575	Q02576
RefSeq (mRNA)	NM_005598	NM_010916
RefSeq (protein)	NP_005589	NP_035046
Location (UCSC)	Chr 1: 160.37 – 160.37 Mb	Chr 1: 172.05 – 172.06 Mb
PubMed search

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

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]^[1]

References

1. "Entrez Gene: NHLH1 nescient helix loop helix 1".

Further reading

• 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. doi:10.1038/nature04209. PMID 16189514.
• 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. 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. 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. 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. 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. PMID 1328219.