OTX1

Protein-coding gene in the species Homo sapiens
OTX1
Identifiers
AliasesOTX1, orthodenticle homeobox 1
External IDsOMIM: 600036 MGI: 97450 HomoloGene: 7875 GeneCards: OTX1
Gene location (Human)
Chromosome 2 (human)
Chr.Chromosome 2 (human)[1]
Chromosome 2 (human)
Genomic location for OTX1
Genomic location for OTX1
Band2p15Start63,050,057 bp[1]
End63,057,836 bp[1]
Gene location (Mouse)
Chromosome 11 (mouse)
Chr.Chromosome 11 (mouse)[2]
Chromosome 11 (mouse)
Genomic location for OTX1
Genomic location for OTX1
Band11 A3.2|11 14.1 cMStart21,944,764 bp[2]
End21,952,897 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • ganglionic eminence

  • minor salivary glands

  • skin of abdomen

  • amygdala

  • cingulate gyrus

  • prefrontal cortex

  • Brodmann area 9

  • blood

  • putamen

  • substantia nigra
Top expressed in
  • nasolacrimal duct

  • lip

  • lacrimal gland

  • optic nerve

  • ciliary body

  • iris

  • main bronchus

  • pharynx

  • conjunctiva

  • conjunctival fornix
More reference expression data
BioGPS
n/a
Gene ontology
Molecular function
  • DNA-binding transcription factor activity
  • RNA polymerase II cis-regulatory region sequence-specific DNA binding
  • DNA binding
  • sequence-specific DNA binding
  • DNA-binding transcription activator activity, RNA polymerase II-specific
  • protein binding
  • DNA-binding transcription factor activity, RNA polymerase II-specific
Cellular component
  • nucleus
Biological process
  • diencephalon morphogenesis
  • regulation of transcription by RNA polymerase II
  • multicellular organism development
  • metencephalon development
  • forebrain development
  • regulation of transcription, DNA-templated
  • inner ear morphogenesis
  • midbrain development
  • anterior/posterior pattern specification
  • positive regulation of transcription by RNA polymerase II
  • transcription by RNA polymerase II
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

5013

18423

Ensembl

ENSG00000115507

ENSMUSG00000005917

UniProt

P32242

P80205

RefSeq (mRNA)

NM_001199770
NM_014562

NM_011023

RefSeq (protein)

NP_001186699
NP_055377

NP_035153

Location (UCSC)Chr 2: 63.05 – 63.06 MbChr 11: 21.94 – 21.95 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Homeobox protein OTX1 is a protein that in humans is encoded by the OTX1 gene.[5][6]

Function

This gene encodes a member of the bicoid sub-family of homeodomain-containing transcription factors. The encoded protein acts as a transcription factor and may play a role in brain and sensory organ development. The Otx gene is active in the region of the first gill arch, which is related to the upper and lower jaw and two of the bones of the ear.[7] A similar protein in mice is required for proper brain and sensory organ development and can cause epilepsy.[6]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000115507 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000005917 – 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. ^ Kastury K, Druck T, Huebner K, Barletta C, Acampora D, Simeone A, Faiella A, Boncinelli E (July 1994). "Chromosome locations of human EMX and OTX genes". Genomics. 22 (1): 41–5. doi:10.1006/geno.1994.1343. PMID 7959790.
  6. ^ a b "Entrez Gene: OTX1 orthodenticle homeobox 1".
  7. ^ Shubin, Neil "Your Inner Fish" 2009

Further reading

  • Simeone A, Acampora D, Mallamaci A, Stornaiuolo A, D'Apice MR, Nigro V, Boncinelli E (July 1993). "A vertebrate gene related to orthodenticle contains a homeodomain of the bicoid class and demarcates anterior neuroectoderm in the gastrulating mouse embryo". The EMBO Journal. 12 (7): 2735–47. doi:10.1002/j.1460-2075.1993.tb05935.x. PMC 413524. PMID 8101484.
  • Acampora D, Mazan S, Avantaggiato V, Barone P, Tuorto F, Lallemand Y, Brûlet P, Simeone A (October 1996). "Epilepsy and brain abnormalities in mice lacking the Otx1 gene". Nature Genetics. 14 (2): 218–22. doi:10.1038/ng1096-218. PMID 8841200. S2CID 32251856.
  • Nagao T, Leuzinger S, Acampora D, Simeone A, Finkelstein R, Reichert H, Furukubo-Tokunaga K (March 1998). "Developmental rescue of Drosophila cephalic defects by the human Otx genes". Proceedings of the National Academy of Sciences of the United States of America. 95 (7): 3737–42. Bibcode:1998PNAS...95.3737N. doi:10.1073/pnas.95.7.3737. PMC 19906. PMID 9520436.
  • Weimann JM, Zhang YA, Levin ME, Devine WP, Brûlet P, McConnell SK (December 1999). "Cortical neurons require Otx1 for the refinement of exuberant axonal projections to subcortical targets". Neuron. 24 (4): 819–31. doi:10.1016/S0896-6273(00)81030-2. PMID 10624946. S2CID 407402.
  • Francks C, Fisher SE, Olson RK, Pennington BF, Smith SD, DeFries JC, Monaco AP (March 2002). "Fine mapping of the chromosome 2p12-16 dyslexia susceptibility locus: quantitative association analysis and positional candidate genes SEMA4F and OTX1". Psychiatric Genetics. 12 (1): 35–41. doi:10.1097/00041444-200203000-00005. hdl:11858/00-001M-0000-0012-C9C5-5. PMID 11901358. S2CID 15050388.
  • Puelles E, Annino A, Tuorto F, Usiello A, Acampora D, Czerny T, Brodski C, Ang SL, Wurst W, Simeone A (May 2004). "Otx2 regulates the extent, identity and fate of neuronal progenitor domains in the ventral midbrain". Development. 131 (9): 2037–48. doi:10.1242/dev.01107. PMID 15105370.
  • Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, Berriz GF, Gibbons FD, Dreze M, Ayivi-Guedehoussou N, Klitgord N, Simon C, Boxem M, Milstein S, Rosenberg J, Goldberg DS, Zhang LV, Wong SL, Franklin G, Li S, Albala JS, Lim J, Fraughton C, Llamosas E, Cevik S, Bex C, Lamesch P, Sikorski RS, Vandenhaute J, Zoghbi HY, Smolyar A, Bosak S, Sequerra R, Doucette-Stamm L, Cusick ME, Hill DE, Roth FP, Vidal M (October 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.

External links

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

  • 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
Stub icon

This article on a gene on human chromosome 2 is a stub. You can help Wikipedia by expanding it.

  • v
  • t
  • e