HOXA13: Difference between revisions

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{{Infobox_gene}}
{{PBB_Controls
'''Homeobox protein Hox-A13''' is a [[protein]] that in humans is encoded by the ''HOXA13'' [[gene]].<ref name="pmid1973146">{{cite journal | vauthors = McAlpine PJ, Shows TB | title = Nomenclature for human homeobox genes | journal = Genomics | volume = 7 | issue = 3 | pages = 460 | date = Jul 1990 | pmid = 1973146 | pmc =  | doi = 10.1016/0888-7543(90)90186-X }}</ref><ref name="pmid1358459">{{cite journal | vauthors = Scott MP | title = Vertebrate homeobox gene nomenclature | journal = Cell | volume = 71 | issue = 4 | pages = 551–3 | date = Nov 1992 | pmid = 1358459 | pmc = | doi = 10.1016/0092-8674(92)90588-4 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: HOXA13 homeobox A13| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3209| accessdate = }}</ref>
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}


<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
== Function ==
{{GNF_Protein_box
| image =
| image_source =
| PDB =
| Name = Homeobox A13
| HGNCid = 5102
| Symbol = HOXA13
| AltSymbols =; HOX1; HOX1J
| OMIM = 142959
| ECnumber = 
| Homologene = 73882
| MGIid = 96173
| GeneAtlas_image1 = PBB_GE_HOXA13_gnf1h00031_at_tn.png
| Function = {{GNF_GO|id=GO:0003700 |text = transcription factor activity}} {{GNF_GO|id=GO:0005515 |text = protein binding}} {{GNF_GO|id=GO:0043565 |text = sequence-specific DNA binding}}
| Component = {{GNF_GO|id=GO:0005634 |text = nucleus}}
| Process = {{GNF_GO|id=GO:0001501 |text = skeletal development}} {{GNF_GO|id=GO:0006355 |text = regulation of transcription, DNA-dependent}} {{GNF_GO|id=GO:0007275 |text = multicellular organismal development}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 3209
    | Hs_Ensembl = ENSG00000106031
    | Hs_RefseqProtein = NP_000513
    | Hs_RefseqmRNA = NM_000522
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 7
    | Hs_GenLoc_start = 27203024
    | Hs_GenLoc_end = 27206221
    | Hs_Uniprot = P31271
    | Mm_EntrezGene = 15398
    | Mm_Ensembl = ENSMUSG00000038203
    | Mm_RefseqmRNA = XM_976525
    | Mm_RefseqProtein = XP_981619
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 6
    | Mm_GenLoc_start = 52188454
    | Mm_GenLoc_end = 52190352
    | Mm_Uniprot = Q496R8
  }}
}}
'''Homeobox A13''', also known as '''HOXA13''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: HOXA13 homeobox A13| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3209| accessdate = }}</ref>


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
In vertebrates, the genes encoding the class of [[transcription factor]]s 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 [[Cellular differentiation|differentiation]].<ref name="entrez"/>
{{PBB_Summary
| section_title =
| summary_text = 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. Expansion of a polyalanine tract in the encoded protein can cause hand-foot-uterus syndrome, also known as hand-foot-genital syndrome.<ref name="entrez">{{cite web | title = Entrez Gene: HOXA13 homeobox A13| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3209| accessdate = }}</ref>
}}


==See also==
== Clinical significance ==
 
Expansion of a polyalanine tract in the encoded protein can cause  {{SWL|type=mutations_associated_to|target=Hand-Foot-Genital Syndrome|label=hand-foot-genital syndrome}}, also known as hand-foot-uterus syndrome.<ref name='Innis_2006'>{{cite book | last = Innis | first = Jeffrey W | authorlink = | title = Hand-Foot-Genital Syndrome | publisher = University of Washington, Seattle | date = 2006-07-11 | location = | pages = | url = https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene∂=hfg | doi = | id = | isbn = | series = NCBI Bookshelf, GeneReviews}}</ref>
 
== See also ==
* [[Homeobox]]
* [[Homeobox]]


==References==
== References ==
{{reflist|2}}
{{reflist}}


==Further reading==
== Further reading ==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading
* {{cite journal | vauthors = Goodman FR, Scambler PJ | title = Human HOX gene mutations | journal = Clinical Genetics | volume = 59 | issue = 1 | pages = 1–11 | date = Jan 2001 | pmid = 11206481 | doi = 10.1034/j.1399-0004.2001.590101.x }}
| citations =
* {{cite journal | vauthors = Utsch B, Becker K, Brock D, Lentze MJ, Bidlingmaier F, Ludwig M | title = A novel stable polyalanine [poly(A)] expansion in the HOXA13 gene associated with hand-foot-genital syndrome: proper function of poly(A)-harbouring transcription factors depends on a critical repeat length? | journal = Human Genetics | volume = 110 | issue = 5 | pages = 488–94 | date = May 2002 | pmid = 12073020 | doi = 10.1007/s00439-002-0712-8 }}
*{{cite journal | author=Goodman FR, Scambler PJ |title=Human HOX gene mutations. |journal=Clin. Genet. |volume=59 |issue= 1 |pages= 1-11 |year= 2001 |pmid= 11206481 |doi= }}
* {{cite journal | vauthors = Acampora D, D'Esposito M, Faiella A, Pannese M, Migliaccio E, Morelli F, Stornaiuolo A, Nigro V, Simeone A, Boncinelli E | title = The human HOX gene family | journal = Nucleic Acids Research | volume = 17 | issue = 24 | pages = 10385–402 | date = Dec 1989 | pmid = 2574852 | pmc = 335308 | doi = 10.1093/nar/17.24.10385 }}
*{{cite journal | author=Utsch B, Becker K, Brock D, ''et al.'' |title=A novel stable polyalanine [poly(A)] expansion in the HOXA13 gene associated with hand-foot-genital syndrome: proper function of poly(A)-harbouring transcription factors depends on a critical repeat length? |journal=Hum. Genet. |volume=110 |issue= 5 |pages= 488-94 |year= 2002 |pmid= 12073020 |doi= 10.1007/s00439-002-0712-8 }}
* {{cite journal | vauthors = Apiou F, Flagiello D, Cillo C, Malfoy B, Poupon MF, Dutrillaux B | title = Fine mapping of human HOX gene clusters | journal = Cytogenetics and Cell Genetics | volume = 73 | issue = 1-2 | pages = 114–5 | year = 1996 | pmid = 8646877 | doi = 10.1159/000134320 }}
*{{cite journal | author=Scott MP |title=Vertebrate homeobox gene nomenclature. |journal=Cell |volume=71 |issue= 4 |pages= 551-3 |year= 1992 |pmid= 1358459 |doi=  }}
* {{cite journal | vauthors = Mortlock DP, Innis JW | title = Mutation of HOXA13 in hand-foot-genital syndrome | journal = Nature Genetics | volume = 15 | issue = 2 | pages = 179–80 | date = Feb 1997 | pmid = 9020844 | doi = 10.1038/ng0297-179 }}
*{{cite journal  | author=McAlpine PJ, Shows TB |title=Nomenclature for human homeobox genes. |journal=Genomics |volume=7 |issue= 3 |pages= 460 |year= 1990 |pmid= 1973146 |doi=  }}
* {{cite journal | vauthors = | title = Toward a complete human genome sequence | journal = Genome Research | volume = 8 | issue = 11 | pages = 1097–108 | date = Nov 1998 | pmid = 9847074 | doi = 10.1101/gr.8.11.1097 }}
*{{cite journal  | author=Acampora D, D'Esposito M, Faiella A, ''et al.'' |title=The human HOX gene family. |journal=Nucleic Acids Res. |volume=17 |issue= 24 |pages= 10385-402 |year= 1990 |pmid= 2574852 |doi= }}
* {{cite journal | vauthors = Post LC, Innis JW | title = Infertility in adult hypodactyly mice is associated with hypoplasia of distal reproductive structures | journal = Biology of Reproduction | volume = 61 | issue = 6 | pages = 1402–8 | date = Dec 1999 | pmid = 10569982 | doi = 10.1095/biolreprod61.6.1402 }}
*{{cite journal | author=Apiou F, Flagiello D, Cillo C, ''et al.'' |title=Fine mapping of human HOX gene clusters. |journal=Cytogenet. Cell Genet. |volume=73 |issue= 1-2 |pages= 114-5 |year= 1996 |pmid= 8646877 |doi= }}
* {{cite journal | vauthors = de Stanchina E, Gabellini D, Norio P, Giacca M, Peverali FA, Riva S, Falaschi A, Biamonti G | title = Selection of homeotic proteins for binding to a human DNA replication origin | journal = Journal of Molecular Biology | volume = 299 | issue = 3 | pages = 667–80 | date = Jun 2000 | pmid = 10835276 | doi = 10.1006/jmbi.2000.3782 }}
*{{cite journal | author=Mortlock DP, Innis JW |title=Mutation of HOXA13 in hand-foot-genital syndrome. |journal=Nat. Genet. |volume=15 |issue= 2 |pages= 179-80 |year= 1997 |pmid= 9020844 |doi= 10.1038/ng0297-179 }}
* {{cite journal | vauthors = Goodman FR, Bacchelli C, Brady AF, Brueton LA, Fryns JP, Mortlock DP, Innis JW, Holmes LB, Donnenfeld AE, Feingold M, Beemer FA, Hennekam RC, Scambler PJ | title = Novel HOXA13 mutations and the phenotypic spectrum of hand-foot-genital syndrome | journal = American Journal of Human Genetics | volume = 67 | issue = 1 | pages = 197–202 | date = Jul 2000 | pmid = 10839976 | pmc = 1287077 | doi = 10.1086/302961 }}
*{{cite journal | author= |title=Toward a complete human genome sequence. |journal=Genome Res. |volume=8 |issue= 11 |pages= 1097-108 |year= 1999 |pmid= 9847074 |doi= }}
* {{cite journal | vauthors = Zhao Y, Potter SS | title = Functional specificity of the Hoxa13 homeobox | journal = Development | volume = 128 | issue = 16 | pages = 3197–207 | date = Aug 2001 | pmid = 11688568 | doi =  }}
*{{cite journal | author=Post LC, Innis JW |title=Infertility in adult hypodactyly mice is associated with hypoplasia of distal reproductive structures. |journal=Biol. Reprod. |volume=61 |issue= 6 |pages= 1402-8 |year= 1999 |pmid= 10569982 |doi= }}
* {{cite journal | vauthors = Fujino T, Suzuki A, Ito Y, Ohyashiki K, Hatano Y, Miura I, Nakamura T | title = 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) | journal = Blood | volume = 99 | issue = 4 | pages = 1428–33 | date = Feb 2002 | pmid = 11830496 | doi = 10.1182/blood.V99.4.1428 }}
*{{cite journal | author=de Stanchina E, Gabellini D, Norio P, ''et al.'' |title=Selection of homeotic proteins for binding to a human DNA replication origin. |journal=J. Mol. Biol. |volume=299 |issue= 3 |pages= 667-80 |year= 2000 |pmid= 10835276 |doi= 10.1006/jmbi.2000.3782 }}
* {{cite journal | vauthors = Kosaki K, Kosaki R, Suzuki T, Yoshihashi H, Takahashi T, Sasaki K, Tomita M, McGinnis W, Matsuo N | title = Complete mutation analysis panel of the 39 human HOX genes | journal = Teratology | volume = 65 | issue = 2 | pages = 50–62 | date = Feb 2002 | pmid = 11857506 | doi = 10.1002/tera.10009 }}
*{{cite journal | author=Goodman FR, Bacchelli C, Brady AF, ''et al.'' |title=Novel HOXA13 mutations and the phenotypic spectrum of hand-foot-genital syndrome. |journal=Am. J. Hum. Genet. |volume=67 |issue= 1 |pages= 197-202 |year= 2000 |pmid= 10839976 |doi= }}
* {{cite journal | vauthors = Innis JW, Goodman FR, Bacchelli C, Williams TM, Mortlock DP, Sateesh P, Scambler PJ, McKinnon W, Guttmacher AE | title = A HOXA13 allele with a missense mutation in the homeobox and a dinucleotide deletion in the promoter underlies Guttmacher syndrome | journal = Human Mutation | volume = 19 | issue = 5 | pages = 573–4 | date = May 2002 | pmid = 11968094 | doi = 10.1002/humu.9036 | url = https://deepblue.lib.umich.edu/bitstream/2027.42/35180/1/9036_ftp.pdf }}
*{{cite journal | author=Zhao Y, Potter SS |title=Functional specificity of the Hoxa13 homeobox. |journal=Development |volume=128 |issue= 16 |pages= 3197-207 |year= 2001 |pmid= 11688568 |doi=  }}
* {{cite journal | vauthors = Taketani T, Taki T, Ono R, Kobayashi Y, Ida K, Hayashi Y | title = The chromosome translocation t(7;11)(p15;p15) in acute myeloid leukemia results in fusion of the NUP98 gene with a HOXA cluster gene, HOXA13, but not HOXA9 | journal = Genes, Chromosomes & Cancer | volume = 34 | issue = 4 | pages = 437–43 | date = Aug 2002 | pmid = 12112533 | doi = 10.1002/gcc.10077 }}
*{{cite journal | author=Fujino T, Suzuki A, Ito Y, ''et al.'' |title=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). |journal=Blood |volume=99 |issue= 4 |pages= 1428-33 |year= 2002 |pmid= 11830496 |doi= }}
* {{cite journal | vauthors = Debeer P, Bacchelli C, Scambler PJ, De Smet L, Fryns JP, Goodman FR | title = Severe digital abnormalities in a patient heterozygous for both a novel missense mutation in HOXD13 and a polyalanine tract expansion in HOXA13 | journal = Journal of Medical Genetics | volume = 39 | issue = 11 | pages = 852–6 | date = Nov 2002 | pmid = 12414828 | pmc = 1735011 | doi = 10.1136/jmg.39.11.852 }}
*{{cite journal | author=Kosaki K, Kosaki R, Suzuki T, ''et al.'' |title=Complete mutation analysis panel of the 39 human HOX genes. |journal=Teratology |volume=65 |issue= 2 |pages= 50-62 |year= 2002 |pmid= 11857506 |doi= 10.1002/tera.10009 }}
*{{cite journal | author=Innis JW, Goodman FR, Bacchelli C, ''et al.'' |title=A HOXA13 allele with a missense mutation in the homeobox and a dinucleotide deletion in the promoter underlies Guttmacher syndrome. |journal=Hum. Mutat. |volume=19 |issue= 5 |pages= 573-4 |year= 2002 |pmid= 11968094 |doi= 10.1002/humu.9036 }}
*{{cite journal | author=Taketani T, Taki T, Ono R, ''et al.'' |title=The chromosome translocation t(7;11)(p15;p15) in acute myeloid leukemia results in fusion of the NUP98 gene with a HOXA cluster gene, HOXA13, but not HOXA9. |journal=Genes Chromosomes Cancer |volume=34 |issue= 4 |pages= 437-43 |year= 2002 |pmid= 12112533 |doi= 10.1002/gcc.10077 }}
*{{cite journal | author=Debeer P, Bacchelli C, Scambler PJ, ''et al.'' |title=Severe digital abnormalities in a patient heterozygous for both a novel missense mutation in HOXD13 and a polyalanine tract expansion in HOXA13. |journal=J. Med. Genet. |volume=39 |issue= 11 |pages= 852-6 |year= 2002 |pmid= 12414828 |doi=  }}
*{{cite journal  | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
}}
{{refend}}
{{refend}}


== External links ==
== External links ==
*[https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=hfg  GeneReviews/NCBI/NIH/UW entry on Hand-Foot-Genital Syndrome]
* {{MeshName|HOXA13+protein,+human}}
* {{MeshName|HOXA13+protein,+human}}


{{NLM content}}
{{NLM content}}
{{protein-stub}}
 
{{Transcription factors}}
{{Transcription factors|g3}}
 
 
{{DEFAULTSORT:Hoxa13}}
[[Category:Transcription factors]]
[[Category:Transcription factors]]
{{WikiDoc Sources}}
 
{{gene-7-stub}}

Latest revision as of 12:49, 4 November 2018

VALUE_ERROR (nil)
Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

n/a

n/a

RefSeq (protein)

n/a

n/a

Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

Homeobox protein Hox-A13 is a protein that in humans is encoded by the HOXA13 gene.[1][2][3]

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.[3]

Clinical significance

Expansion of a polyalanine tract in the encoded protein can cause hand-foot-genital syndrome , also known as hand-foot-uterus syndrome.[4]

See also

References

  1. 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.
  2. Scott MP (Nov 1992). "Vertebrate homeobox gene nomenclature". Cell. 71 (4): 551–3. doi:10.1016/0092-8674(92)90588-4. PMID 1358459.
  3. 3.0 3.1 "Entrez Gene: HOXA13 homeobox A13".
  4. Innis, Jeffrey W (2006-07-11). Hand-Foot-Genital Syndrome. NCBI Bookshelf, GeneReviews. University of Washington, Seattle.

Further reading

External links

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