HOXB5

Protein-coding gene in humans
HOXB5
Identifiers
AliasesHOXB5, HHO.C10, HOX2, HOX2A, HU-1, Hox2.1, homeobox B5
External IDsOMIM: 142960 MGI: 96186 HomoloGene: 37585 GeneCards: HOXB5
Gene location (Human)
Chromosome 17 (human)
Chr.Chromosome 17 (human)[1]
Chromosome 17 (human)
Genomic location for HOXB5
Genomic location for HOXB5
Band17q21.32Start48,591,257 bp[1]
End48,593,779 bp[1]
Gene location (Mouse)
Chromosome 11 (mouse)
Chr.Chromosome 11 (mouse)[2]
Chromosome 11 (mouse)
Genomic location for HOXB5
Genomic location for HOXB5
Band11 D|11 59.82 cMStart96,194,162 bp[2]
End96,196,947 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • corpus epididymis

  • pancreatic ductal cell

  • kidney

  • endometrium

  • seminal vesicula

  • inferior olivary nucleus

  • caput epididymis

  • right lung

  • right uterine tube

  • gastric mucosa
Top expressed in
  • inferior ganglion of vagus nerve

  • motor neuron

  • anterior horn of spinal cord

  • pontine nuclei

  • medullary collecting duct

  • Paneth cell

  • enteric nervous system

  • neural tube

  • somite

  • right lung lobe
More reference expression data
BioGPS


More reference expression data
Gene ontology
Molecular function
  • protein binding
  • DNA-binding transcription activator activity, RNA polymerase II-specific
  • sequence-specific DNA binding
  • DNA-binding transcription factor activity
  • RNA polymerase II cis-regulatory region sequence-specific DNA binding
  • DNA binding
  • DNA-binding transcription factor activity, RNA polymerase II-specific
  • transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding
Cellular component
  • fibrillar center
  • nucleus
  • cytosol
Biological process
  • positive regulation of transcription by RNA polymerase II
  • anatomical structure morphogenesis
  • transcription by RNA polymerase II
  • regulation of transcription, DNA-templated
  • multicellular organism development
  • embryonic skeletal system development
  • endothelial cell differentiation
  • anterior/posterior pattern specification
  • embryonic skeletal system morphogenesis
  • transcription, DNA-templated
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

3215

15413

Ensembl

ENSG00000120075

ENSMUSG00000038700

UniProt

P09067

P09079

RefSeq (mRNA)

NM_002147

NM_008268

RefSeq (protein)

NP_002138

NP_032294

Location (UCSC)Chr 17: 48.59 – 48.59 MbChr 11: 96.19 – 96.2 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Homeobox protein Hox-B5 is a protein that in humans is encoded by the HOXB5 gene.[5][6][7]

Function

This gene is a member of the Antp homeobox family and encodes a nuclear protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox B genes located on chromosome 17. The encoded protein functions as a sequence-specific transcription factor that is involved in lung and gut development. Increased expression of this gene is associated with a distinct biologic subset of acute myeloid leukemia (AML) and the occurrence of bronchopulmonary sequestration (BPS) and congenital cystic adenomatoid malformation (CCAM) tissue.[7]

See also

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000120075 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000038700 - 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. ^ a b "Entrez Gene: HOXB5 homeobox B5".

Further reading

  • Galang CK, Hauser CA (May 1992). "Cooperative DNA binding of the highly conserved human Hox 2.1 homeodomain gene product". The New Biologist. 4 (5): 558–68. PMID 1355360.
  • Peverali FA, D'Esposito M, Acampora D, Bunone G, Negri M, Faiella A, Stornaiuolo A, Pannese M, Migliaccio E, Simeone A (Oct 1990). "Expression of HOX homeogenes in human neuroblastoma cell culture lines". Differentiation; Research in Biological Diversity. 45 (1): 61–9. doi:10.1111/j.1432-0436.1990.tb00458.x. PMID 1981366.
  • Giampaolo A, Acampora D, Zappavigna V, Pannese M, D'Esposito M, Carè A, Faiella A, Stornaiuolo A, Russo G, Simeone A (Jun 1989). "Differential expression of human HOX-2 genes along the anterior-posterior axis in embryonic central nervous system". Differentiation; Research in Biological Diversity. 40 (3): 191–7. doi:10.1111/j.1432-0436.1989.tb00598.x. PMID 2570724.
  • 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.
  • Boncinelli E, Acampora D, Pannese M, D'Esposito M, Somma R, Gaudino G, Stornaiuolo A, Cafiero M, Faiella A, Simeone A (1990). "Organization of human class I homeobox genes". Genome. 31 (2): 745–56. doi:10.1139/g89-133. PMID 2576652.
  • Rabin M, Ferguson-Smith A, Hart CP, Ruddle FH (Dec 1986). "Cognate homeo-box loci mapped on homologous human and mouse chromosomes". Proceedings of the National Academy of Sciences of the United States of America. 83 (23): 9104–8. Bibcode:1986PNAS...83.9104R. doi:10.1073/pnas.83.23.9104. PMC 387083. PMID 2878432.
  • Hart CP, Awgulewitsch A, Fainsod A, McGinnis W, Ruddle FH (Nov 1985). "Homeo box gene complex on mouse chromosome 11: molecular cloning, expression in embryogenesis, and homology to a human homeo box locus". Cell. 43 (1): 9–18. doi:10.1016/0092-8674(85)90007-8. PMID 3000607. S2CID 44802225.
  • Xu WM, Gorman PA, Rider SH, Hedge PJ, Moore G, Prichard C, Sheer D, Solomon E (Nov 1988). "Construction of a genetic map of human chromosome 17 by use of chromosome-mediated gene transfer". Proceedings of the National Academy of Sciences of the United States of America. 85 (22): 8563–7. Bibcode:1988PNAS...85.8563X. doi:10.1073/pnas.85.22.8563. PMC 282499. PMID 3186746.
  • Simeone A, Mavilio F, Bottero L, Giampaolo A, Russo G, Faiella A, Boncinelli E, Peschle C (1986). "A human homoeo box gene specifically expressed in spinal cord during embryonic development". Nature. 320 (6064): 763–5. Bibcode:1986Natur.320..763S. doi:10.1038/320763a0. PMID 3453105. S2CID 4322447.
  • Hauser CA, Joyner AL, Klein RD, Learned TK, Martin GR, Tjian R (Nov 1985). "Expression of homologous homeo-box-containing genes in differentiated human teratocarcinoma cells and mouse embryos". Cell. 43 (1): 19–28. doi:10.1016/0092-8674(85)90008-X. PMID 4075393. S2CID 46477046.
  • Levine M, Rubin GM, Tjian R (Oct 1984). "Human DNA sequences homologous to a protein coding region conserved between homeotic genes of Drosophila". Cell. 38 (3): 667–73. doi:10.1016/0092-8674(84)90261-7. PMID 6091895. S2CID 28848659.
  • Galang CK, Hauser CA (Aug 1993). "Cooperative DNA binding of the human HoxB5 (Hox-2.1) protein is under redox regulation in vitro". Molecular and Cellular Biology. 13 (8): 4609–17. doi:10.1128/mcb.13.8.4609. PMC 360087. PMID 8101633.
  • 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.
  • Kuliev A, Kukharenko V, Morozov G, Freidine M, Rechitsky S, Verlinsky O, Ivakhnenko V, Gindilis V, Strom C, Verlinsky Y (Feb 1996). "Expression of homebox-containing genes in human preimplantation development and in embryos with chromosomal aneuploidies". Journal of Assisted Reproduction and Genetics. 13 (2): 177–81. doi:10.1007/BF02072541. PMID 8688592. S2CID 28126784.
  • Sakach M, Safaei R (Aug 1996). "Localization of the HoxB5 protein in the developing CNS of late gestational mouse embryos". International Journal of Developmental Neuroscience. 14 (5): 567–73. doi:10.1016/0736-5748(96)00052-4. PMID 8930688. S2CID 137937.
  • Archavachotikul K, Ciccone TJ, Chinoy MR, Nielsen HC, Volpe MV (Mar 2002). "Thyroid hormone affects embryonic mouse lung branching morphogenesis and cellular differentiation". American Journal of Physiology. Lung Cellular and Molecular Physiology. 282 (3): L359-69. doi:10.1152/ajplung.00400.2000. PMID 11839528. S2CID 88376626.
  • 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.

External links

  • HOXB5+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
  • Overview of all the structural information available in the PDB for UniProt: P02833 (Drosophila melanogaster Homeotic protein antennapedia) at the PDBe-KB.

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


  • v
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    1hom: DETERMINATION OF THE THREE-DIMENSIONAL STRUCTURE OF THE ANTENNAPEDIA HOMEODOMAIN FROM DROSOPHILA IN SOLUTION BY 1H NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY
  • 1san: THE DES(1-6)ANTENNAPEDIA HOMEODOMAIN: COMPARISON OF THE NMR SOLUTION STRUCTURE AND THE DNA BINDING AFFINITY WITH THE INTACT ANTENNAPEDIA HOMEODOMAIN
    1san: THE DES(1-6)ANTENNAPEDIA HOMEODOMAIN: COMPARISON OF THE NMR SOLUTION STRUCTURE AND THE DNA BINDING AFFINITY WITH THE INTACT ANTENNAPEDIA HOMEODOMAIN
  • v
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(1) Basic domains
(1.1) Basic leucine zipper (bZIP)
(1.2) Basic helix-loop-helix (bHLH)
Group A
Group B
Group C
bHLH-PAS
Group D
Group E
Group F
bHLH-COE
(1.3) bHLH-ZIP
(1.4) NF-1
(1.5) RF-X
(1.6) Basic helix-span-helix (bHSH)
(2) Zinc finger DNA-binding domains
(2.1) Nuclear receptor (Cys4)
subfamily 1
subfamily 2
subfamily 3
subfamily 4
subfamily 5
subfamily 6
subfamily 0
(2.2) Other Cys4
(2.3) Cys2His2
(2.4) Cys6
(2.5) Alternating composition
(2.6) WRKY
(3) Helix-turn-helix domains
(3.1) Homeodomain
Antennapedia
ANTP class
protoHOX
Hox-like
metaHOX
NK-like
other
(3.2) Paired box
(3.3) Fork head / winged helix
(3.4) Heat shock factors
(3.5) Tryptophan clusters
(3.6) TEA domain
  • transcriptional enhancer factor
(4) β-Scaffold factors with minor groove contacts
(4.1) Rel homology region
(4.2) STAT
(4.3) p53-like
(4.4) MADS box
(4.6) TATA-binding proteins
(4.7) High-mobility group
(4.9) Grainyhead
(4.10) Cold-shock domain
(4.11) Runt
(0) Other transcription factors
(0.2) HMGI(Y)
(0.3) Pocket domain
(0.5) AP-2/EREBP-related factors
(0.6) Miscellaneous
see also transcription factor/coregulator deficiencies


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