HOXA11

HOXA11
Identifiers
Aliases	HOXA11 , HOX1, HOX1I, RUSAT1, homeobox A11
External IDs	OMIM: 142958 MGI: 96172 HomoloGene: 4033 GeneCards: HOXA11
Gene location (Human) Chr. Chromosome 7 (human) [1] Band 7p15.2 Start 27,181,157 bp [1] End 27,185,232 bp [1]
Gene location (Mouse) Chr. Chromosome 6 (mouse) [2] Band 6 B3|6 25.4 cM Start 52,219,086 bp [2] End 52,222,790 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in myometrium canal of the cervix stromal cell of endometrium transverse colon prostate urinary bladder cervix epithelium gastrocnemius muscle Achilles tendon vagina Top expressed in uterus vas deferens elbow ankle joint cervix female urethra prostate ankle hand metanephros More reference expression data BioGPS More reference expression data
Gene ontology Molecular function sequence-specific DNA binding DNA binding DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component transcription regulator complex protein-DNA complex nucleus nucleoplasm protein-containing complex Biological process cartilage development involved in endochondral bone morphogenesis skeletal system development proximal/distal pattern formation regulation of chondrocyte differentiation male gonad development regulation of transcription, DNA-templated organ induction anatomical structure morphogenesis embryonic digit morphogenesis transcription, DNA-templated single fertilization uterus development multicellular organism development positive regulation of transcription, DNA-templated branching involved in ureteric bud morphogenesis developmental growth embryonic limb morphogenesis positive regulation of chondrocyte differentiation spermatogenesis positive regulation of cell development regulation of gene expression embryonic skeletal joint morphogenesis metanephros development mesodermal cell fate specification dorsal/ventral pattern formation embryonic forelimb morphogenesis anterior/posterior pattern specification bone development regulation of transcription by RNA polymerase II Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 3207 15396 Ensembl ENSG00000005073 ENSMUSG00000038210 UniProt P31270 P31311 RefSeq (mRNA) NM_005523 NM_010450 RefSeq (protein) NP_005514 NP_034580 Location (UCSC) Chr 7: 27.18 – 27.19 Mb Chr 6: 52.22 – 52.22 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Homeobox protein Hox-A11 is a protein that in humans is encoded by the HOXA11 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. This gene is involved in the regulation of uterine development and is required for female fertility. Mutations in this gene can cause radioulnar synostosis with amegakaryocytic thrombocytopenia. ^[7]

See also

• Homeobox

References

1. GRCh38: Ensembl release 89: ENSG00000005073 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000038210 - 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 (Jul 1990). "Nomenclature for human homeobox genes". Genomics. 7 (3): 460. doi:10.1016/0888-7543(90)90186-X. PMID   1973146.
6. Scott MP (Nov 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: HOXA11 homeobox A11".

Further reading

• Daftary GS, Taylor HS (2001). "Implantation in the human: the role of HOX genes". Seminars in Reproductive Medicine. 18 (3): 311–20. doi:10.1055/s-2000-12568. PMID   11299969.
• Daftary GS, Taylor HS (Jun 2001). "Molecular markers of implantation: clinical implications". Current Opinion in Obstetrics and Gynecology. 13 (3): 269–74. doi:10.1097/00001703-200106000-00004. PMID   11396649. S2CID   30091061.
• Davies JA, Fisher CE (2002). "Genes and proteins in renal development". Experimental Nephrology. 10 (2): 102–13. doi:10.1159/000049905. PMID   11937757. S2CID   22273851.
• Eun Kwon H, Taylor HS (Dec 2004). "The role of HOX genes in human implantation". Annals of the New York Academy of Sciences. 1034 (1): 1–18. Bibcode:2004NYASA1034....1E. doi:10.1196/annals.1335.001. PMID   15731295. S2CID   41501204.
• Acampora D, D'Esposito M, Faiella A, Pannese M, Migliaccio E, Morelli F, Stornaiuolo A, Nigro V, Simeone A, Boncinelli E (Dec 1989). "The human HOX gene family". Nucleic Acids Research. 17 (24): 10385–402. doi:10.1093/nar/17.24.10385. PMC   335308 . PMID   2574852.
• Miano JM, Firulli AB, Olson EN, Hara P, Giachelli CM, Schwartz SM (Jan 1996). "Restricted expression of homeobox genes distinguishes fetal from adult human smooth muscle cells". Proceedings of the National Academy of Sciences of the United States of America. 93 (2): 900–5. Bibcode:1996PNAS...93..900M. doi: 10.1073/pnas.93.2.900 . PMC   40155 . PMID   8570656.
• 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.
• Potter SS, Branford WW (Oct 1998). "Evolutionary conservation and tissue-specific processing of Hoxa 11 antisense transcripts". Mammalian Genome. 9 (10): 799–806. doi:10.1007/s003359900870. PMID   9745033. S2CID   9107678.
• Taylor HS, Igarashi P, Olive DL, Arici A (Mar 1999). "Sex steroids mediate HOXA11 expression in the human peri-implantation endometrium". The Journal of Clinical Endocrinology and Metabolism. 84 (3): 1129–35. doi: 10.1210/jcem.84.3.5573 . PMID   10084606.
• Thompson AA, Nguyen LT (Dec 2000). "Amegakaryocytic thrombocytopenia and radio-ulnar synostosis are associated with HOXA11 mutation". Nature Genetics. 26 (4): 397–8. doi:10.1038/82511. PMID   11101832. S2CID   38963628.
• Shen WF, Krishnan K, Lawrence HJ, Largman C (Nov 2001). "The HOX homeodomain proteins block CBP histone acetyltransferase activity". Molecular and Cellular Biology. 21 (21): 7509–22. doi:10.1128/MCB.21.21.7509-7522.2001. PMC   99922 . PMID   11585930.
• Fujino T, Suzuki A, Ito Y, Ohyashiki K, Hatano Y, Miura I, Nakamura T (Feb 2002). "Single-translocation and double-chimeric transcripts: detection of NUP98-HOXA9 in myeloid leukemias with HOXA11 or HOXA13 breaks of the chromosomal translocation t(7;11)(p15;p15)". Blood. 99 (4): 1428–33. doi: 10.1182/blood.V99.4.1428 . PMID   11830496.
• Fleischman RA, Letestu R, Mi X, Stevens D, Winters J, Debili N, Vainchenker W (Feb 2002). "Absence of mutations in the HoxA10, HoxA11 and HoxD11 nucleotide coding sequences in thrombocytopenia with absent radius syndrome". British Journal of Haematology. 116 (2): 367–75. doi:10.1046/j.1365-2141.2002.03263.x. PMID   11841440. S2CID   46162989.
• Kosaki K, Kosaki R, Suzuki T, Yoshihashi H, Takahashi T, Sasaki K, Tomita M, McGinnis W, Matsuo N (Feb 2002). "Complete mutation analysis panel of the 39 human HOX genes". Teratology. 65 (2): 50–62. doi:10.1002/tera.10009. PMID   11857506.
• Chau YM, Pando S, Taylor HS (Jun 2002). "HOXA11 silencing and endogenous HOXA11 antisense ribonucleic acid in the uterine endometrium". The Journal of Clinical Endocrinology and Metabolism. 87 (6): 2674–80. doi: 10.1210/jcem.87.6.8527 . PMID   12050232.

External links

• HOXA11+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.