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HOXA3

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HOXA3
Identifiers
AliasesHOXA3,HOX1, HOX1E, homeobox A3
External IDsOMIM:142954;MGI:96175;HomoloGene:40725;GeneCards:HOXA3;OMA:HOXA3 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_030661
NM_153631
NM_153632

NM_010452

RefSeq (protein)

NP_109377
NP_705895

NP_034582

Location (UCSC)Chr 7: 27.11 – 27.15 MbChr 6: 52.15 – 52.19 Mb
PubMedsearch[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Homeobox protein Hox-A3is aproteinthat in humans is encoded by theHOXA3gene.[5][6][7]

Function

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In vertebrates, the genes encoding the class oftranscription factorscalledhomeobox genesare found inclustersnamed A, B, C, and D on four separatechromosomes.Expression of these proteins is spatially and temporally regulated duringembryonic development.This gene is part of the A cluster onchromosome 7and encodes a DNA-binding transcription factor which may regulategene expression,morphogenesis,and differentiation. Three transcript variants encoding two different isoforms have been found for this gene.[7]

During normalfetal development,HoxA3 is expressed inmesenchymalneural crest cellsandendodermal cellsfound in thethird pharyngeal pouch.[8]Expression of HoxA3 in these cells affects the proper formation of thethymus,thyroid,andparathyroidorgans.[9][10]While the gene does not seem to affect the proliferation or migration of the pharyngeal neural crest cells, it does appear to triggercellular differentiationevents required to form these organs.[9]Knockout of HoxA3 leads to failure in forming the thymus (athymia) and parathyroid gland (aparthyroidism).[10]Mutant HoxA3 also causes a reduction in thyroid size. While thefollicularandparafollicular cellsstill differentiate, their numbers are reduced and they are not evenly distributed throughout the gland.[9]Mutant HoxA3 models show similarphenotypesas those seen inDiGeorge's syndrome,and it is possible that the two are linked.[9]

Regulation

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The HOXA3 gene isrepressedby themicroRNAmiR-10a.[11]

See also

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References

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  1. ^abcGRCh38: Ensembl release 89: ENSG00000105997Ensembl,May 2017
  2. ^abcGRCm38: Ensembl release 89: ENSMUSG00000079560Ensembl,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. ^McAlpine PJ, Shows TB (July 1990). "Nomenclature for human homeobox genes".Genomics.7(3): 460.doi:10.1016/0888-7543(90)90186-X.PMID1973146.
  6. ^Scott MP (November 1992). "Vertebrate homeobox gene nomenclature".Cell.71(4): 551–3.doi:10.1016/0092-8674(92)90588-4.PMID1358459.S2CID13370372.
  7. ^ab"Entrez Gene: HOXA3 homeobox A3".
  8. ^Hunt P, Gulisano M, Cook M, Sham MH, Faiella A, Wilkinson D, et al. (October 1991). "A distinct Hox code for the branchial region of the vertebrate head".Nature.353(6347): 861–4.Bibcode:1991Natur.353..861H.doi:10.1038/353861a0.PMID1682814.S2CID4312466.
  9. ^abcdManley NR, Capecchi MR (July 1995). "The role of Hoxa-3 in mouse thymus and thyroid development".Development.121(7): 1989–2003.doi:10.1242/dev.121.7.1989.PMID7635047.
  10. ^abChojnowski JL, Masuda K, Trau HA, Thomas K, Capecchi M, Manley NR (October 2014)."Multiple roles for HOXA3 in regulating thymus and parathyroid differentiation and morphogenesis in mouse".Development.141(19): 3697–708.doi:10.1242/dev.110833.PMC4197593.PMID25249461.
  11. ^Han L, Witmer PD, Casey E, Valle D, Sukumar S (August 2007)."DNA methylation regulates MicroRNA expression".Cancer Biology & Therapy.6(8): 1284–8.doi:10.4161/cbt.6.8.4486.PMID17660710.

Further reading

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