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OTX1

From Wikipedia, the free encyclopedia
Protein-coding gene in the species Homo sapiens
OTX1
Identifiers
AliasesOTX1, orthodenticle homeobox 1
External IDsOMIM:600036;MGI:97450;HomoloGene:7875;GeneCards:OTX1;OMA:OTX1 - orthologs
Gene location (Human)
Chromosome 2 (human)
Chr.Chromosome 2 (human)[1]
Chromosome 2 (human)
Genomic location for OTX1
Genomic location for OTX1
Band2p15Start63,050,057bp[1]
End63,057,836bp[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 cMStart21,944,764bp[2]
End21,952,897bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • olfactory zone of nasal mucosa

  • ventricular zone

  • ganglionic eminence

  • minor salivary glands

  • skin of leg

  • skin of abdomen

  • testicle

  • nasal epithelium

  • amygdala

  • cingulate gyrus
Top expressed in
  • nasolacrimal duct

  • lip

  • ventricular zone

  • lacrimal gland

  • optic nerve

  • ciliary body

  • iris

  • zygote

  • thyroglossal duct

  • vestibular membrane of cochlear duct
More reference expression data
BioGPS
n/a
Gene ontology
Molecular function
Cellular component
Biological process
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 aprotein that in humans is encoded by theOTX1gene.[5][6]

Function

[edit]

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

[edit]
  1. ^abcGRCh38: Ensembl release 89: ENSG00000115507Ensembl, May 2017
  2. ^abcGRCm38: Ensembl release 89: ENSMUSG00000005917Ensembl, 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. ^ab"Entrez Gene: OTX1 orthodenticle homeobox 1".
  7. ^Shubin, Neil "Your Inner Fish" 2009

Further reading

[edit]

External links

[edit]

This article incorporates text from theUnited States National Library of Medicine, which is in thepublic domain.

(1) Basic domains
(1.1) Basicleucine 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
(3.1)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
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