HOXB1

Homeobox protein Hox-B1 is a protein that in humans is encoded by the HOXB1 gene.[5][6][7]

HOXB1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1B72
Identifiers
Aliases	HOXB1, HCFP3, HOX2, HOX2I, Hox-2.9, homeobox B1
External IDs	OMIM: 142968 MGI: 96182 HomoloGene: 1615 GeneCards: HOXB1
Gene location (Human) Chr. Chromosome 17 (human)[1] Band 17q21.32 Start 48,528,526 bp[1] End 48,531,011 bp[1]
Gene location (Mouse) Chr. Chromosome 11 (mouse)[2] Band 11 D|11 59.86 cM Start 96,365,752 bp[2] End 96,368,256 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • DNA binding • sequence-specific DNA binding • protein domain specific binding • RNA polymerase II regulatory region sequence-specific DNA binding • GO:0000980 RNA polymerase II cis-regulatory region sequence-specific DNA binding • GO:0001077, GO:0001212, GO:0001213, GO:0001211, GO:0001205 DNA-binding transcription activator activity, RNA polymerase II-specific • GO:0001200, GO:0001133, GO:0001201 DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component • cell nucleus Biological process • multicellular organism development • pattern specification process • regulation of transcription, DNA-templated • transcription, DNA-templated • transcription from RNA polymerase II promoter • positive regulation of transcription from RNA polymerase II promoter • anatomical structure morphogenesis • anterior/posterior pattern specification • rhombomere development • rhombomere 4 development • rhombomere 5 development • facial nerve structural organization • facial nucleus development • anatomical structure formation involved in morphogenesis • embryonic skeletal system morphogenesis Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	3211	15407
Ensembl	ENSG00000120094	ENSMUSG00000018973
UniProt	P14653	P17919
RefSeq (mRNA)	NM_002144	NM_008266
RefSeq (protein)	NP_002135	NP_032292
Location (UCSC)	Chr 17: 48.53 – 48.53 Mb	Chr 11: 96.37 – 96.37 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

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 HOXB genes located in a cluster on chromosome 17.[7]

Interactions

HOXB1 has been shown to interact with PBX1.[8][9]

See also

• Homeobox

References

1. GRCh38: Ensembl release 89: ENSG00000120094 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000018973 - 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 (August 1990). "Nomenclature for human homeobox genes". Genomics. 7 (3): 460. doi:10.1016/0888-7543(90)90186-X. PMID 1973146.
6. Scott MP (December 1992). "Vertebrate homeobox gene nomenclature". Cell. 71 (4): 551–3. doi:10.1016/0092-8674(92)90588-4. PMID 1358459.
7. "Entrez Gene: HOXB1 homeobox B1".
8. Berthelsen J, Zappavigna V, Ferretti E, Mavilio F, Blasi F (March 1998). "The novel homeoprotein Prep1 modulates Pbx-Hox protein cooperativity". EMBO J. 17 (5): 1434–45. doi:10.1093/emboj/17.5.1434. PMC 1170491. PMID 9482740.
9. Piper DE, Batchelor AH, Chang CP, Cleary ML, Wolberger C (February 1999). "Structure of a HoxB1-Pbx1 heterodimer bound to DNA: role of the hexapeptide and a fourth homeodomain helix in complex formation". Cell. 96 (4): 587–97. doi:10.1016/S0092-8674(00)80662-5. PMID 10052460.

Further reading

• Acampora D, D'Esposito M, Faiella A, Pannese M, Migliaccio E, Morelli F, Stornaiuolo A, Nigro V, Simeone A, Boncinelli E (1989). "The human HOX gene family". Nucleic Acids Res. 17 (24): 10385–402. doi:10.1093/nar/17.24.10385. PMC 335308. PMID 2574852.
• Boncinelli E, Acampora D, Pannese M, D'Esposito M, Somma R, Gaudino G, Stornaiuolo A, Cafiero M, Faiella A, Simeone A (1989). "Organization of human class I homeobox genes". Genome. 31 (2): 745–56. doi:10.1139/g89-133. PMID 2576652.
• Guazzi S, Lonigro R, Pintonello L, Boncinelli E, Di Lauro R, Mavilio F (1994). "The thyroid transcription factor-1 gene is a candidate target for regulation by Hox proteins". EMBO J. 13 (14): 3339–47. doi:10.1002/j.1460-2075.1994.tb06636.x. PMC 395231. PMID 7913891.
• Miano JM, Firulli AB, Olson EN, Hara P, Giachelli CM, Schwartz SM (1996). "Restricted expression of homeobox genes distinguishes fetal from adult human smooth muscle cells". Proc. Natl. Acad. Sci. U.S.A. 93 (2): 900–5. 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". Cytogenet. Cell Genet. 73 (1–2): 114–5. doi:10.1159/000134320. PMID 8646877.
• Berthelsen J, Zappavigna V, Ferretti E, Mavilio F, Blasi F (1998). "The novel homeoprotein Prep1 modulates Pbx-Hox protein cooperativity". EMBO J. 17 (5): 1434–45. doi:10.1093/emboj/17.5.1434. PMC 1170491. PMID 9482740.
• Piper DE, Batchelor AH, Chang CP, Cleary ML, Wolberger C (1999). "Structure of a HoxB1-Pbx1 heterodimer bound to DNA: role of the hexapeptide and a fourth homeodomain helix in complex formation". Cell. 96 (4): 587–97. doi:10.1016/S0092-8674(00)80662-5. PMID 10052460.
• Jungbluth S, Bell E, Lumsden A (1999). "Specification of distinct motor neuron identities by the singular activities of individual Hox genes". Development. 126 (12): 2751–8. PMID 10331985.
• Jacobs Y, Schnabel CA, Cleary ML (1999). "Trimeric association of Hox and TALE homeodomain proteins mediates Hoxb2 hindbrain enhancer activity". Mol. Cell. Biol. 19 (7): 5134–42. PMC 84356. PMID 10373562.
• Faiella A, Zortea M, Barbaria E, Albani F, Capra V, Cama A, Boncinelli E (1998). "A genetic polymorphism in the human HOXB1 homeobox gene implying a 9bp tandem repeat in the amino-terminal coding region. Mutations in brief no. 200. Online". Hum. Mutat. 12 (5): 363. PMID 10671062.
• Mikkola I, Bruun JA, Holm T, Johansen T (2001). "Superactivation of Pax6-mediated transactivation from paired domain-binding sites by dna-independent recruitment of different homeodomain proteins". J. Biol. Chem. 276 (6): 4109–18. doi:10.1074/jbc.M008882200. PMID 11069920.
• Ingram JL, Stodgell CJ, Hyman SL, Figlewicz DA, Weitkamp LR, Rodier PM (2000). "Discovery of allelic variants of HOXA1 and HOXB1: genetic susceptibility to autism spectrum disorders". Teratology. 62 (6): 393–405. doi:10.1002/1096-9926(200012)62:6<393::AID-TERA6>3.0.CO;2-V. PMID 11091361.
• Di Rocco G, Gavalas A, Popperl H, Krumlauf R, Mavilio F, Zappavigna V (2001). "The recruitment of SOX/OCT complexes and the differential activity of HOXA1 and HOXB1 modulate the Hoxb1 auto-regulatory enhancer function". J. Biol. Chem. 276 (23): 20506–15. doi:10.1074/jbc.M011175200. PMID 11278854.
• Li J, Tabor HK, Nguyen L, Gleason C, Lotspeich LJ, Spiker D, Risch N, Myers RM (2002). "Lack of association between HoxA1 and HoxB1 gene variants and autism in 110 multiplex families". Am. J. Med. Genet. 114 (1): 24–30. doi:10.1002/ajmg.1618. PMID 11840501.
• Kosaki K, Kosaki R, Suzuki T, Yoshihashi H, Takahashi T, Sasaki K, Tomita M, McGinnis W, Matsuo N (2002). "Complete mutation analysis panel of the 39 human HOX genes". Teratology. 65 (2): 50–62. doi:10.1002/tera.10009. PMID 11857506.
• Fognani C, Kilstrup-Nielsen C, Berthelsen J, Ferretti E, Zappavigna V, Blasi F (2002). "Characterization of PREP2, a paralog of PREP1, which defines a novel sub-family of the MEINOX TALE homeodomain transcription factors". Nucleic Acids Res. 30 (9): 2043–51. doi:10.1093/nar/30.9.2043. PMC 113854. PMID 11972344.
• Subramaniam N, Campión J, Rafter I, Okret S (2003). "Cross-talk between glucocorticoid and retinoic acid signals involving glucocorticoid receptor interaction with the homoeodomain protein Pbx1". Biochem. J. 370 (Pt 3): 1087–95. doi:10.1042/BJ20020471. PMC 1223238. PMID 12487626.

External links

• HOXB1+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH)
• Overview of all the structural information available in the PDB for UniProt: P14653 (Homeobox protein Hox-B1) at the PDBe-KB.

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