HOXD4: Difference between revisions

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<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{Infobox_gene}}
{{PBB_Controls
'''Homeobox protein Hox-D4''' is a [[protein]] that in humans is encoded by the ''HOXD4'' [[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 = Aug 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 = Dec 1992 | pmid = 1358459 | pmc = | doi = 10.1016/0092-8674(92)90588-4 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: HOXD4 homeobox D4| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3233| 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 D4
| HGNCid = 5138
| Symbol = HOXD4
| AltSymbols =; HOX4; HHO.C13; HOX-5.1; HOX4B; Hox-4.2
| OMIM = 142981
| ECnumber = 
| Homologene = 7773
| MGIid = 96208
| Function = {{GNF_GO|id=GO:0003700 |text = transcription factor activity}} {{GNF_GO|id=GO:0043565 |text = sequence-specific DNA binding}}
| Component = {{GNF_GO|id=GO:0005634 |text = nucleus}}
| Process = {{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 = 3233
    | Hs_Ensembl = ENSG00000170166
    | Hs_RefseqProtein = NP_055436
    | Hs_RefseqmRNA = NM_014621
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 2
    | Hs_GenLoc_start = 176724359
    | Hs_GenLoc_end = 176726197
    | Hs_Uniprot = P09016
    | Mm_EntrezGene = 15436
    | Mm_Ensembl = 
    | Mm_RefseqmRNA = NM_010469
    | Mm_RefseqProtein = NP_034599
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 
    | Mm_GenLoc_start = 
    | Mm_GenLoc_end = 
    | Mm_Uniprot = 
  }}
}}
'''Homeobox D4''', also known as '''HOXD4''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: HOXD4 homeobox D4| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3233| accessdate = }}</ref>


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
This gene belongs to the [[homeobox]] family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. [[Mammals]] possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXD genes located at 2q31-2q37 chromosome regions. Deletions that removed the entire HOXD gene cluster or 5' end of this cluster have been associated with severe limb and genital abnormalities. The protein encoded by this gene may play a role in determining positional values in developing limb buds. Alternatively spliced variants have been described but their full length nature has not been determined.<ref name="entrez"/>
{{PBB_Summary
| section_title =
| summary_text = This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXD genes located at 2q31-2q37 chromosome regions. Deletions that removed the entire HOXD gene cluster or 5' end of this cluster have been associated with severe limb and genital abnormalities. The protein encoded by this gene may play a role in determining positional values in developing limb buds. Alternatively spliced variants have been described but their full length nature has not been determined.<ref name="entrez">{{cite web | title = Entrez Gene: HOXD4 homeobox D4| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3233| accessdate = }}</ref>
}}


==See also==
== See also ==
* [[Homeobox]]
* [[Homeobox]]


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


==Further reading==
== Further reading ==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading
*{{cite journal | vauthors = Cianetti L, Di Cristofaro A, Zappavigna V, Bottero L, Boccoli G, Testa U, Russo G, Boncinelli E, Peschle C | title = Molecular mechanisms underlying the expression of the human HOX-5.1 gene | journal = Nucleic Acids Res. | volume = 18 | issue = 15 | pages = 4361–8 | year = 1990 | pmid = 1975093 | pmc = 331252 | doi = 10.1093/nar/18.15.4361 }}
| citations =
*{{cite journal | vauthors = Boncinelli E, Acampora D, Pannese M, D'Esposito M, Somma R, Gaudino G, Stornaiuolo A, Cafiero M, Faiella A, Simeone A | title = Organization of human class I homeobox genes | journal = Genome | volume = 31 | issue = 2 | pages = 745–56 | year = 1990 | pmid = 2576652 | doi = 10.1139/g89-133 }}
*{{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 = Mavilio F, Simeone A, Giampaolo A, Faiella A, Zappavigna V, Acampora D, Poiana G, Russo G, Peschle C, Boncinelli E | title = Differential and stage-related expression in embryonic tissues of a new human homoeobox gene | journal = Nature | volume = 324 | issue = 6098 | pages = 664–8 | year = 1987 | pmid = 2879245 | doi = 10.1038/324664a0 }}
*{{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 = Guazzi S, Lonigro R, Pintonello L, Boncinelli E, Di Lauro R, Mavilio F | title = The thyroid transcription factor-1 gene is a candidate target for regulation by Hox proteins | journal = EMBO J. | volume = 13 | issue = 14 | pages = 3339–47 | year = 1994 | pmid = 7913891 | pmc = 395231 | doi =  }}
*{{cite journal  | author=Cianetti L, Di Cristofaro A, Zappavigna V, ''et al.'' |title=Molecular mechanisms underlying the expression of the human HOX-5.1 gene. |journal=Nucleic Acids Res. |volume=18 |issue= 15 |pages= 4361-8 |year= 1990 |pmid= 1975093 |doi= }}
*{{cite journal | vauthors = Kim YH, Choi CY, Lee SJ, Conti MA, Kim Y | title = Homeodomain-interacting protein kinases, a novel family of co-repressors for homeodomain transcription factors | journal = J. Biol. Chem. | volume = 273 | issue = 40 | pages = 25875–9 | year = 1998 | pmid = 9748262 | doi = 10.1074/jbc.273.40.25875 }}
*{{cite journal | author=Boncinelli E, Acampora D, Pannese M, ''et al.'' |title=Organization of human class I homeobox genes. |journal=Genome |volume=31 |issue= 2 |pages= 745-56 |year= 1990 |pmid= 2576652 |doi= }}
*{{cite journal | vauthors = Del Campo M, Jones MC, Veraksa AN, Curry CJ, Jones KL, Mascarello JT, Ali-Kahn-Catts Z, Drumheller T, McGinnis W | title = Monodactylous limbs and abnormal genitalia are associated with hemizygosity for the human 2q31 region that includes the HOXD cluster | journal = Am. J. Hum. Genet. | volume = 65 | issue = 1 | pages = 104–10 | year = 1999 | pmid = 10364522 | pmc = 1378080 | doi = 10.1086/302467 }}
*{{cite journal | author=Mavilio F, Simeone A, Giampaolo A, ''et al.'' |title=Differential and stage-related expression in embryonic tissues of a new human homoeobox gene. |journal=Nature |volume=324 |issue= 6098 |pages= 664-8 |year= 1987 |pmid= 2879245 |doi= 10.1038/324664a0 }}
*{{cite journal | vauthors = Shanmugam K, Green NC, Rambaldi I, Saragovi HU, Featherstone MS | title = PBX and MEIS as Non-DNA-Binding Partners in Trimeric Complexes with HOX Proteins | journal = Mol. Cell. Biol. | volume = 19 | issue = 11 | pages = 7577–88 | year = 1999 | pmid = 10523646 | pmc = 84774 | doi =  }}
*{{cite journal | author=Guazzi S, Lonigro R, Pintonello L, ''et al.'' |title=The thyroid transcription factor-1 gene is a candidate target for regulation by Hox proteins. |journal=EMBO J. |volume=13 |issue= 14 |pages= 3339-47 |year= 1994 |pmid= 7913891 |doi=  }}
*{{cite journal | vauthors = Limongi MZ, Pelliccia F, Gaddini L, Rocchi A | title = Clustering of two fragile sites and seven homeobox genes in human chromosome region 2q31→q32.1 | journal = Cytogenet. Cell Genet. | volume = 90 | issue = 1–2 | pages = 151–3 | year = 2000 | pmid = 11060466 | doi = 10.1159/000015651 }}
*{{cite journal | author=Kim YH, Choi CY, Lee SJ, ''et al.'' |title=Homeodomain-interacting protein kinases, a novel family of co-repressors for homeodomain transcription factors. |journal=J. Biol. Chem. |volume=273 |issue= 40 |pages= 25875-9 |year= 1998 |pmid= 9748262 |doi= }}
*{{cite journal | vauthors = Shen WF, Krishnan K, Lawrence HJ, Largman C | title = The HOX Homeodomain Proteins Block CBP Histone Acetyltransferase Activity | journal = Mol. Cell. Biol. | volume = 21 | issue = 21 | pages = 7509–22 | year = 2001 | pmid = 11585930 | pmc = 99922 | doi = 10.1128/MCB.21.21.7509-7522.2001 }}
*{{cite journal | author=Del Campo M, Jones MC, Veraksa AN, ''et al.'' |title=Monodactylous limbs and abnormal genitalia are associated with hemizygosity for the human 2q31 region that includes the HOXD cluster. |journal=Am. J. Hum. Genet. |volume=65 |issue= 1 |pages= 104-10 |year= 1999 |pmid= 10364522 |doi= }}
*{{cite journal | vauthors = Goodman FR, Majewski F, Collins AL, Scambler PJ | title = A 117-kb Microdeletion Removing HOXD9–HOXD13 and EVX2 Causes Synpolydactyly | journal = Am. J. Hum. Genet. | volume = 70 | issue = 2 | pages = 547–55 | year = 2002 | pmid = 11778160 | pmc = 384929 | doi = 10.1086/338921 }}
*{{cite journal | author=Shanmugam K, Green NC, Rambaldi I, ''et al.'' |title=PBX and MEIS as non-DNA-binding partners in trimeric complexes with HOX proteins. |journal=Mol. Cell. Biol. |volume=19 |issue= 11 |pages= 7577-88 |year= 1999 |pmid= 10523646 |doi=  }}
*{{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 | year = 2002 | pmid = 11857506 | doi = 10.1002/tera.10009 }}
*{{cite journal | author=Limongi MZ, Pelliccia F, Gaddini L, Rocchi A |title=Clustering of two fragile sites and seven homeobox genes in human chromosome region 2q31-->q32.1. |journal=Cytogenet. Cell Genet. |volume=90 |issue= 1-2 |pages= 151-3 |year= 2000 |pmid= 11060466 |doi= }}
*{{cite journal | vauthors = van Scherpenzeel Thim V, Remacle S, Picard J, Cornu G, Gofflot F, Rezsohazy R, Verellen-Dumoulin C | title = Mutation analysis of the HOX paralogous 4-13 genes in children with acute lymphoid malignancies: identification of a novel germline mutation of HOXD4 leading to a partial loss-of-function | journal = Hum. Mutat. | volume = 25 | issue = 4 | pages = 384–95 | year = 2006 | pmid = 15776434 | doi = 10.1002/humu.20155 }}
*{{cite journal | author=Shen WF, Krishnan K, Lawrence HJ, Largman C |title=The HOX homeodomain proteins block CBP histone acetyltransferase activity. |journal=Mol. Cell. Biol. |volume=21 |issue= 21 |pages= 7509-22 |year= 2001 |pmid= 11585930 |doi= 10.1128/MCB.21.21.7509-7522.2001 }}
*{{cite journal | author=Goodman FR, Majewski F, Collins AL, Scambler PJ |title=A 117-kb microdeletion removing HOXD9-HOXD13 and EVX2 causes synpolydactyly. |journal=Am. J. Hum. Genet. |volume=70 |issue= 2 |pages= 547-55 |year= 2002 |pmid= 11778160 |doi= }}
*{{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=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 }}
*{{cite journal  | author=Gerhard DS, Wagner L, Feingold EA, ''et al.'' |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121-7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 }}
*{{cite journal  | author=van Scherpenzeel Thim V, Remacle S, Picard J, ''et al.'' |title=Mutation analysis of the HOX paralogous 4-13 genes in children with acute lymphoid malignancies: identification of a novel germline mutation of HOXD4 leading to a partial loss-of-function. |journal=Hum. Mutat. |volume=25 |issue= 4 |pages= 384-95 |year= 2006 |pmid= 15776434 |doi= 10.1002/humu.20155 }}
}}
{{refend}}
{{refend}}


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* {{MeshName|HOXD4+protein,+human}}
* {{MeshName|HOXD4+protein,+human}}


{{Transcription factors|g3}}
{{NLM content}}
{{NLM content}}
{{protein-stub}}
 
{{Transcription factors}}
[[Category:Transcription factors]]
[[Category:Transcription factors]]
{{WikiDoc Sources}}
 
 
{{gene-2-stub}}

Latest revision as of 14:02, 31 August 2017

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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

Homeobox protein Hox-D4 is a protein that in humans is encoded by the HOXD4 gene.[1][2][3]

Function

This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXD genes located at 2q31-2q37 chromosome regions. Deletions that removed the entire HOXD gene cluster or 5' end of this cluster have been associated with severe limb and genital abnormalities. The protein encoded by this gene may play a role in determining positional values in developing limb buds. Alternatively spliced variants have been described but their full length nature has not been determined.[3]

See also

References

  1. ↑ McAlpine PJ, Shows TB (Aug 1990). "Nomenclature for human homeobox genes". Genomics. 7 (3): 460. doi:10.1016/0888-7543(90)90186-X. PMID 1973146.
  2. ↑ Scott MP (Dec 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: HOXD4 homeobox D4".

Further reading

External links

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


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