NHLH1

Protein-coding gene in the species Homo sapiens
NHLH1
Identifiers
AliasesNHLH1, HEN1, NSCL, NSCL1, bHLHa35, nescient helix-loop-helix 1
External IDsOMIM: 162360; MGI: 98481; HomoloGene: 4089; GeneCards: NHLH1; OMA:NHLH1 - orthologs
Gene location (Human)
Chromosome 1 (human)
Chr.Chromosome 1 (human)[1]
Chromosome 1 (human)
Genomic location for NHLH1
Genomic location for NHLH1
Band1q23.2Start160,367,071 bp[1]
End160,372,846 bp[1]
Gene location (Mouse)
Chromosome 1 (mouse)
Chr.Chromosome 1 (mouse)[2]
Chromosome 1 (mouse)
Genomic location for NHLH1
Genomic location for NHLH1
Band1 H3|1 79.54 cMStart171,879,859 bp[2]
End171,885,140 bp[2]
RNA expression pattern
Bgee
HumanMouse (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
SpeciesHumanMouse
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 MbChr 1: 171.88 – 171.89 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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. ^ a b c GRCh38: Ensembl release 89: ENSG00000171786 – Ensembl, May 2017
  2. ^ a b c 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. ^ a b "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.


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