NHLH1

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

NHLH1
Identifiers
Aliases	NHLH1, HEN1, NSCL, NSCL1, bHLHa35, nescient helix-loop-helix 1
External IDs	OMIM: 162360; MGI: 98481; HomoloGene: 4089; GeneCards: NHLH1; OMA:NHLH1 - orthologs
Gene location (Human) Chr. Chromosome 1 (human) Band 1q23.2 Start 160,367,071 bp End 160,372,846 bp
Gene location (Mouse) Chr. Chromosome 1 (mouse) Band 1 H3|1 79.54 cM Start 171,879,859 bp End 171,885,140 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in ganglionic eminence ventricular zone buccal mucosa cell putamen granulocyte caudate nucleus prefrontal cortex nucleus accumbens superior frontal gyrus primary visual cortex Top expressed in gray matter layer of cerebellum urethra female urethra male urethra ganglion of neuraxis ventricular zone respiratory epithelium olfactory epithelium nasal placode Jacobson's organ More reference expression data BioGPS 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 Species Human Mouse Entrez 4807 18071 Ensembl ENSG00000171786 ENSMUSG00000051251 UniProt Q02575 Q5T203 Q02576 RefSeq (mRNA) NM_005598 NM_010916 RefSeq (protein) NP_005589 NP_005589.1 NP_035046 Location (UCSC) Chr 1: 160.37 – 160.37 Mb Chr 1: 171.88 – 171.89 Mb PubMed search
Wikidata
View/Edit Human View/Edit Mouse

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]

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. 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.