HOXD1

Protein-coding gene in the species Homo sapiens
HOXD1
Identifiers
AliasesHOXD1, HOX4, HOX4G, Hox-4.7, homeobox D1
External IDsOMIM: 142987 MGI: 96201 HomoloGene: 7772 GeneCards: HOXD1
Gene location (Human)
Chromosome 2 (human)
Chr.Chromosome 2 (human)[1]
Chromosome 2 (human)
Genomic location for HOXD1
Genomic location for HOXD1
Band2q31.1Start176,188,668 bp[1]
End176,190,907 bp[1]
Gene location (Mouse)
Chromosome 2 (mouse)
Chr.Chromosome 2 (mouse)[2]
Chromosome 2 (mouse)
Genomic location for HOXD1
Genomic location for HOXD1
Band2 C3|2 44.13 cMStart74,593,324 bp[2]
End74,595,486 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • corpus epididymis

  • metanephric glomerulus

  • secondary oocyte

  • spinal ganglia

  • caput epididymis

  • inferior ganglion of vagus nerve

  • seminal vesicula

  • inferior olivary nucleus

  • trigeminal ganglion

  • kidney tubule
Top expressed in
  • trigeminal ganglion

  • germinal epithelium

  • primitive streak

  • somatopleuric mesenchyme

  • Bowman's capsule

  • medullary collecting duct

  • mucosa of large intestine

  • dorsal mesentery

  • enteric nervous system

  • Epithelium of large intestine
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
  • nucleus
  • nucleoplasm
Biological process
  • multicellular organism development
  • sensory perception of pain
  • regulation of transcription, DNA-templated
  • transcription, DNA-templated
  • neuron differentiation
  • embryonic skeletal system development
  • regulation of transcription by RNA polymerase II
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

3231

15429

Ensembl

ENSG00000128645

ENSMUSG00000042448

UniProt

Q9GZZ0

Q01822

RefSeq (mRNA)

NM_024501

NM_010467

RefSeq (protein)

NP_078777

NP_034597

Location (UCSC)Chr 2: 176.19 – 176.19 MbChr 2: 74.59 – 74.6 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Homeobox protein Hox-D1 is a protein that in humans is encoded by the HOXD1 gene.[5][6][7]

This gene is a member of the Antp homeobox family and encodes a protein with a homeobox DNA-binding domain. This nuclear protein functions as a sequence-specific transcription factor that is involved in differentiation and limb development. Mutations in this gene have been associated with severe developmental defects on the anterior-posterior (a-p) limb axis.[7]

See also

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000128645 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000042448 - 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 (Aug 1990). "Nomenclature for human homeobox genes". Genomics. 7 (3): 460. doi:10.1016/0888-7543(90)90186-X. PMID 1973146.
  6. ^ Scott MP (Dec 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: HOXD1 homeobox D1".

Further reading

  • Boncinelli E, Acampora D, Pannese M, et al. (1990). "Organization of human class I homeobox genes". Genome. 31 (2): 745–56. doi:10.1139/g89-133. PMID 2576652.
  • Manohar CF, Salwen HR, Furtado MR, Cohn SL (1996). "Up-regulation of HOXC6, HOXD1, and HOXD8 homeobox gene expression in human neuroblastoma cells following chemical induction of differentiation". Tumour Biol. 17 (1): 34–47. doi:10.1159/000217965. PMID 7501971.
  • Guazzi S, Lonigro R, Pintonello L, et al. (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.
  • Manohar CF, Furtado MR, Salwen HR, Cohn SL (1993). "Hox gene expression in differentiating human neuroblastoma cells". Biochem. Mol. Biol. Int. 30 (4): 733–41. PMID 8104620.
  • Del Campo M, Jones MC, Veraksa AN, et al. (1999). "Monodactylous limbs and abnormal genitalia are associated with hemizygosity for the human 2q31 region that includes the HOXD cluster". Am. J. Hum. Genet. 65 (1): 104–10. doi:10.1086/302467. PMC 1378080. PMID 10364522.
  • Adjaye J, Monk M (2000). "Transcription of homeobox-containing genes detected in cDNA libraries derived from human unfertilized oocytes and preimplantation embryos". Mol. Hum. Reprod. 6 (8): 707–11. doi:10.1093/molehr/6.8.707. PMID 10908280.
  • Limongi MZ, Pelliccia F, Gaddini L, Rocchi A (2000). "Clustering of two fragile sites and seven homeobox genes in human chromosome region 2q31→q32.1". Cytogenet. Cell Genet. 90 (1–2): 151–3. doi:10.1159/000015651. PMID 11060466. S2CID 35579702.
  • Appukuttan B, Sood R, Ott S, et al. (2001). "Isolation and characterization of the human homeobox gene HOX D1". Mol. Biol. Rep. 27 (4): 195–201. doi:10.1023/A:1011048931477. PMID 11455954. S2CID 20929543.
  • Pitera JE, Milla PJ, Scambler P, Adjaye J (2002). "Cloning of HOXD1 from unfertilised human oocytes and expression analyses during murine oogenesis and embryogenesis". Mech. Dev. 109 (2): 377–81. doi:10.1016/S0925-4773(01)00530-5. PMID 11731253. S2CID 9863135.
  • Kosaki K, Kosaki R, Suzuki T, et al. (2002). "Complete mutation analysis panel of the 39 human HOX genes". Teratology. 65 (2): 50–62. doi:10.1002/tera.10009. PMID 11857506.
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.

External links

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


  • 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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