HOXA3

HOXA3
Identifiers
Aliases	HOXA3 , HOX1, HOX1E, homeobox A3
External IDs	OMIM: 142954; MGI: 96175; HomoloGene: 40725; GeneCards: HOXA3; OMA:HOXA3 - orthologs
Gene location (Human) Chr. Chromosome 7 (human) [1] Band 7p15.2 Start 27,106,184 bp [1] End 27,152,581 bp [1]
Gene location (Mouse) Chr. Chromosome 6 (mouse) [2] Band 6 B3|6 25.4 cM Start 52,146,042 bp [2] End 52,190,316 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in caput epididymis corpus epididymis right uterine tube left uterine tube parietal pleura renal medulla tibia visceral pleura gastric mucosa transverse colon Top expressed in ascending aorta aortic valve tunica albuginea of testis thyroid gland rete testis left lung lobe tracheobronchial tree trachea intercostal muscle pharynx More reference expression data BioGPS More reference expression data
Gene ontology Molecular function sequence-specific DNA binding DNA binding DNA-binding transcription factor activity HMG box domain binding protein binding DNA-binding transcription factor activity, RNA polymerase II-specific RNA polymerase II cis-regulatory region sequence-specific DNA binding Cellular component nucleoplasm nucleus Biological process embryonic skeletal system morphogenesis glossopharyngeal nerve morphogenesis regulation of transcription, DNA-templated thymus development transcription, DNA-templated embryonic skeletal system development multicellular organism development animal organ formation blood vessel remodeling thyroid gland development cartilage development parathyroid gland development angiogenesis positive regulation of cell population proliferation animal organ morphogenesis specification of animal organ position anterior/posterior pattern specification regulation of transcription by RNA polymerase II calcium ion transport gene expression magnesium ion homeostasis bone mineralization negative regulation of calcium ion transport phosphate ion homeostasis calcium ion homeostasis positive regulation of receptor binding positive regulation of transcription by RNA polymerase II Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 3200 15400 Ensembl ENSG00000105997 ENSMUSG00000079560 UniProt O43365 P02831 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 Mb Chr 6: 52.15 – 52.19 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Homeobox protein Hox-A3 is a protein that in humans is encoded by the HOXA3 gene. ^{[5] [6] [7]}

Function

In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. Three transcript variants encoding two different isoforms have been found for this gene. ^[7]

During normal fetal development, HoxA3 is expressed in mesenchymal neural crest cells and endodermal cells found in the third pharyngeal pouch. ^[8] Expression of HoxA3 in these cells affects the proper formation of the thymus, thyroid, and parathyroid organs. ^{[9] [10]} While the gene does not seem to affect the proliferation or migration of the pharyngeal neural crest cells, it does appear to trigger cellular differentiation events 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 the follicular and parafollicular cells still differentiate, their numbers are reduced and they are not evenly distributed throughout the gland. ^[9] Mutant HoxA3 models show similar phenotypes as those seen in DiGeorge's syndrome, and it is possible that the two are linked. ^[9]

Regulation

The HOXA3 gene is repressed by the microRNA miR-10a. ^[11]

See also

• Homeobox

References

1. GRCh38: Ensembl release 89: ENSG00000105997 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000079560 – 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. McAlpine PJ, Shows TB (July 1990). "Nomenclature for human homeobox genes". Genomics. 7 (3): 460. doi:10.1016/0888-7543(90)90186-X. PMID   1973146.
6. Scott MP (November 1992). "Vertebrate homeobox gene nomenclature". Cell. 71 (4): 551–3. doi:10.1016/0092-8674(92)90588-4. PMID   1358459. S2CID   13370372.
7. "Entrez Gene: HOXA3 homeobox A3".
8. Hunt P, Gulisano M, Cook M, Sham MH, Faiella A, Wilkinson D, Boncinelli E, Krumlauf R (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. PMID   1682814. S2CID   4312466.
9. Manley 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. PMID   7635047.
10. Chojnowski 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. PMC   4197593 . PMID   25249461.
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 . PMID   17660710.

Further reading

• Apiou F, Flagiello D, Cillo C, Malfoy B, Poupon MF, Dutrillaux B (1996). "Fine mapping of human HOX gene clusters". Cytogenetics and Cell Genetics. 73 (1–2): 114–5. doi:10.1159/000134320. PMID   8646877.
• Bonaldo MF, Lennon G, Soares MB (September 1996). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Research. 6 (9): 791–806. doi: 10.1101/gr.6.9.791 . PMID   8889548.
• Manley NR, Capecchi MR (March 1998). "Hox group 3 paralogs regulate the development and migration of the thymus, thyroid, and parathyroid glands". Developmental Biology. 195 (1): 1–15. doi: 10.1006/dbio.1997.8827 . PMID   9520319.
• Sanger Centre, The; Washington University Genome Sequencing Cente, The (November 1998). "Toward a complete human genome sequence". Genome Research. 8 (11): 1097–108. doi: 10.1101/gr.8.11.1097 . PMID   9847074.
• Mulder GB, Manley N, Maggio-Price L (December 1998). "Retinoic acid-induced thymic abnormalities in the mouse are associated with altered pharyngeal morphology, thymocyte maturation defects, and altered expression of Hoxa3 and Pax1". Teratology. 58 (6): 263–75. doi:10.1002/(SICI)1096-9926(199812)58:6<263::AID-TERA8>3.0.CO;2-A. PMID   9894676.
• Manzanares M, Nardelli J, Gilardi-Hebenstreit P, Marshall H, Giudicelli F, Martínez-Pastor MT, Krumlauf R, Charnay P (February 2002). "Krox20 and kreisler co-operate in the transcriptional control of segmental expression of Hoxb3 in the developing hindbrain". The EMBO Journal. 21 (3): 365–76. doi:10.1093/emboj/21.3.365. PMC   125344 . PMID   11823429.
• Kosaki K, Kosaki R, Suzuki T, Yoshihashi H, Takahashi T, Sasaki K, Tomita M, McGinnis W, Matsuo N (February 2002). "Complete mutation analysis panel of the 39 human HOX genes". Teratology. 65 (2): 50–62. doi:10.1002/tera.10009. PMID   11857506.
• Kim J, Bhinge AA, Morgan XC, Iyer VR (January 2005). "Mapping DNA-protein interactions in large genomes by sequence tag analysis of genomic enrichment". Nature Methods. 2 (1): 47–53. doi:10.1038/nmeth726. PMID   15782160. S2CID   6135437.
• Wissmüller S, Kosian T, Wolf M, Finzsch M, Wegner M (2006). "The high-mobility-group domain of Sox proteins interacts with DNA-binding domains of many transcription factors". Nucleic Acids Research. 34 (6): 1735–44. doi:10.1093/nar/gkl105. PMC   1421504 . PMID   16582099.

External links

• HOXA3+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)

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