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) [1] Band 1q23.2 Start 160,367,071 bp [1] End 160,372,846 bp [1]
Gene location (Mouse) Chr. Chromosome 1 (mouse) [2] Band 1 H3|1 79.54 cM Start 171,879,859 bp [2] End 171,885,140 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) 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 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 [3] [4]
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. GRCh38: Ensembl release 89: ENSG00000171786 - Ensembl, May 2017
2. 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.
5. "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. 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.