ATOH1

Protein-coding gene in the species Homo sapiens
ATOH1
Identifiers
AliasesATOH1, ATH1, HATH1, MATH-1, bHLHa14, atonal bHLH transcription factor 1
External IDsOMIM: 601461; MGI: 104654; HomoloGene: 31297; GeneCards: ATOH1; OMA:ATOH1 - orthologs
Gene location (Human)
Chromosome 4 (human)
Chr.Chromosome 4 (human)[1]
Chromosome 4 (human)
Genomic location for ATOH1
Genomic location for ATOH1
Band4q22.2Start93,828,753 bp[1]
End93,830,964 bp[1]
Gene location (Mouse)
Chromosome 6 (mouse)
Chr.Chromosome 6 (mouse)[2]
Chromosome 6 (mouse)
Genomic location for ATOH1
Genomic location for ATOH1
Band6 C1|6 30.03 cMStart64,706,109 bp[2]
End64,708,229 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • mucosa of transverse colon

  • rectum

  • mucosa of sigmoid colon

  • duodenum

  • jejunal mucosa

  • epithelium of colon

  • appendix

  • muscle tissue

  • smooth muscle tissue

  • muscle layer of sigmoid colon
Top expressed in
  • rhombic lip

  • crypt of lieberkuhn of small intestine

  • left colon

  • Paneth cell

  • vestibular sensory epithelium

  • intestinal villus

  • jejunum

  • ileum

  • urethra

  • male urethra
More reference expression data
BioGPS
More reference expression data
Gene ontology
Molecular function
  • DNA binding
  • sequence-specific DNA binding
  • protein dimerization activity
  • DNA-binding transcription factor activity
  • DNA-binding transcription activator activity, RNA polymerase II-specific
  • RNA polymerase II cis-regulatory region sequence-specific DNA binding
  • chromatin DNA binding
  • DNA-binding transcription factor activity, RNA polymerase II-specific
Cellular component
  • nucleus
Biological process
  • Notch signaling pathway
  • regulation of neuron differentiation
  • auditory receptor cell fate determination
  • cell differentiation
  • positive regulation of inner ear auditory receptor cell differentiation
  • regulation of transcription, DNA-templated
  • positive regulation of inner ear receptor cell differentiation
  • negative regulation of apoptotic process
  • neuron migration
  • auditory receptor cell fate specification
  • transcription, DNA-templated
  • nervous system development
  • axon guidance
  • multicellular organism development
  • central nervous system development
  • brain development
  • inner ear auditory receptor cell differentiation
  • inner ear morphogenesis
  • positive regulation of neuron differentiation
  • neuron differentiation
  • cerebral cortex development
  • inner ear development
  • positive regulation of transcription by RNA polymerase II
  • transcription by RNA polymerase II
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

474

11921

Ensembl

ENSG00000172238

ENSMUSG00000073043

UniProt

Q92858

P48985

RefSeq (mRNA)

NM_005172

NM_007500

RefSeq (protein)

NP_005163

NP_031526

Location (UCSC)Chr 4: 93.83 – 93.83 MbChr 6: 64.71 – 64.71 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Protein atonal homolog 1 is a protein that in humans is encoded by the ATOH1 gene.[5][6]

Function

This protein belongs to the basic helix-loop-helix (BHLH) family of transcription factors. It activates E-box dependent transcription along with TCF3 (E47).[6] ATOH1 is required for the formation of both neural and non-neural cell types. Using genetic deletion in mice, Atoh1 has been shown to be essential for formation of cerebellar granule neurons, inner ear hair cells, spinal cord interneurons, Merkel cells of the skin, and intestinal secretory cells (goblet, enteroendocrine, and Paneth cells). ATOH1 is a mammalian homolog of the Drosophila melanogaster gene atonal. ATOH1 is considered part of the Notch signaling pathway.

In 2009, ATOH1 was identified as a tumor suppressor gene. [7][8]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000172238 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000073043 – 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. ^ Ben-Arie N, McCall AE, Berkman S, Eichele G, Bellen HJ, Zoghbi HY (September 1996). "Evolutionary conservation of sequence and expression of the bHLH protein Atonal suggests a conserved role in neurogenesis". Human Molecular Genetics. 5 (9): 1207–16. doi:10.1093/hmg/5.9.1207. hdl:11858/00-001M-0000-0010-50D1-1. PMID 8872459.
  6. ^ a b "Entrez Gene: ATOH1 atonal homolog 1 (Drosophila)".
  7. ^ "Cancer 'switch-off' gene found". 2009-02-24. Archived from the original on 2009-02-27.
  8. ^ Bossuyt W, Kazanjian A, De Geest N, Van Kelst S, De Hertogh G, Geboes K, et al. (February 2009). "Atonal homolog 1 is a tumor suppressor gene". PLOS Biology. 7 (2): e39. doi:10.1371/journal.pbio.1000039. PMC 2652388. PMID 19243219.

Further reading

  • Helms AW, Johnson JE (March 1998). "Progenitors of dorsal commissural interneurons are defined by MATH1 expression". Development. 125 (5): 919–28. doi:10.1242/dev.125.5.919. PMID 9449674.
  • Dintilhac A, Bernués J (March 2002). "HMGB1 interacts with many apparently unrelated proteins by recognizing short amino acid sequences" (PDF). The Journal of Biological Chemistry. 277 (9): 7021–8. doi:10.1074/jbc.M108417200. PMID 11748221. S2CID 39560486.
  • Brown NL, Dagenais SL, Chen CM, Glaser T (February 2002). "Molecular characterization and mapping of ATOH7, a human atonal homolog with a predicted role in retinal ganglion cell development". Mammalian Genome. 13 (2): 95–101. doi:10.1007/s00335-001-2101-3. PMC 2262845. PMID 11889557.
  • Leonard JH, Cook AL, Van Gele M, Boyle GM, Inglis KJ, Speleman F, Sturm RA (September 2002). "Proneural and proneuroendocrine transcription factor expression in cutaneous mechanoreceptor (Merkel) cells and Merkel cell carcinoma". International Journal of Cancer. 101 (2): 103–10. doi:10.1002/ijc.10554. PMID 12209986. S2CID 20592545.
  • Gazit R, Krizhanovsky V, Ben-Arie N (February 2004). "Math1 controls cerebellar granule cell differentiation by regulating multiple components of the Notch signaling pathway". Development. 131 (4): 903–13. doi:10.1242/dev.00982. PMID 14757642. S2CID 44769279.
  • Leow CC, Polakis P, Gao WQ (November 2005). "A role for Hath1, a bHLH transcription factor, in colon adenocarcinoma". Annals of the New York Academy of Sciences. 1059 (1): 174–83. Bibcode:2005NYASA1059..174L. doi:10.1196/annals.1339.048. PMID 16382053. S2CID 21443239.
  • Sekine A, Akiyama Y, Yanagihara K, Yuasa Y (June 2006). "Hath1 up-regulates gastric mucin gene expression in gastric cells". Biochemical and Biophysical Research Communications. 344 (4): 1166–71. doi:10.1016/j.bbrc.2006.03.238. PMID 16647036.
  • Mutoh H, Sakamoto H, Hayakawa H, Arao Y, Satoh K, Nokubi M, Sugano K (July 2006). "The intestine-specific homeobox gene Cdx2 induces expression of the basic helix-loop-helix transcription factor Math1". Differentiation; Research in Biological Diversity. 74 (6): 313–21. doi:10.1111/j.1432-0436.2006.00074.x. PMID 16831200.
  • Park ET, Oh HK, Gum JR, Crawley SC, Kakar S, Engel J, et al. (September 2006). "HATH1 expression in mucinous cancers of the colorectum and related lesions". Clinical Cancer Research. 12 (18): 5403–10. doi:10.1158/1078-0432.CCR-06-0573. PMID 17000673.
  • Tsuchiya K, Nakamura T, Okamoto R, Kanai T, Watanabe M (January 2007). "Reciprocal targeting of Hath1 and beta-catenin by Wnt glycogen synthase kinase 3beta in human colon cancer". Gastroenterology. 132 (1): 208–20. doi:10.1053/j.gastro.2006.10.031. PMID 17241872.
  • Du X, Jensen P, Goldowitz D, Hamre KM (May 2007). "Wild-type cells rescue genotypically Math1-null hair cells in the inner ears of chimeric mice". Developmental Biology. 305 (2): 430–8. doi:10.1016/j.ydbio.2007.02.028. PMID 17397818.
  • Westerman BA, Breuer RH, Poutsma A, Chhatta A, Noorduyn LA, Koolen MG, et al. (2007). "Basic helix-loop-helix transcription factor profiling of lung tumors shows aberrant expression of the proneural gene atonal homolog 1 (ATOH1, HATH1, MATH1) in neuroendocrine tumors". The International Journal of Biological Markers. 22 (2): 114–23. doi:10.1177/172460080702200205. PMID 17549667. S2CID 208043955.
  • Scheffer D, Sage C, Corey DP, Pingault V (October 2007). "Gene expression profiling identifies Hes6 as a transcriptional target of ATOH1 in cochlear hair cells". FEBS Letters. 581 (24): 4651–6. doi:10.1016/j.febslet.2007.08.059. PMID 17826772. S2CID 13986512.
  • Shroyer NF, Helmrath MA, Wang VY, Antalffy B, Henning SJ, Zoghbi HY (June 2007). "Intestine-specific ablation of mouse atonal homolog 1 (Math1) reveals a role in cellular homeostasis". Gastroenterology. 132 (7): 2478–88. doi:10.1053/j.gastro.2007.03.047. PMID 17570220.

External links

  • v
  • t
  • e
(1) Basic domains
(1.1) Basic leucine zipper (bZIP)
(1.2) Basic helix-loop-helix (bHLH)
Group A
Group B
Group C
bHLH-PAS
Group D
Group E
Group F
bHLH-COE
(1.3) bHLH-ZIP
(1.4) NF-1
(1.5) RF-X
(1.6) Basic helix-span-helix (bHSH)
(2) Zinc finger DNA-binding domains
(2.1) Nuclear receptor (Cys4)
subfamily 1
subfamily 2
subfamily 3
subfamily 4
subfamily 5
subfamily 6
subfamily 0
(2.2) Other Cys4
(2.3) Cys2His2
(2.4) Cys6
(2.5) Alternating composition
(2.6) WRKY
(3) Helix-turn-helix domains
(3.1) Homeodomain
Antennapedia
ANTP class
protoHOX
Hox-like
metaHOX
NK-like
other
(3.2) Paired box
(3.3) Fork head / winged helix
(3.4) Heat shock factors
(3.5) Tryptophan clusters
(3.6) TEA domain
  • transcriptional enhancer factor
(4) β-Scaffold factors with minor groove contacts
(4.1) Rel homology region
(4.2) STAT
(4.3) p53-like
(4.4) MADS box
(4.6) TATA-binding proteins
(4.7) High-mobility group
(4.9) Grainyhead
(4.10) Cold-shock domain
(4.11) Runt
(0) Other transcription factors
(0.2) HMGI(Y)
(0.3) Pocket domain
(0.5) AP-2/EREBP-related factors
(0.6) Miscellaneous
see also transcription factor/coregulator deficiencies
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Activates

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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