HOXD1

HOXD1
Identifiers
Aliases	HOXD1 , HOX4, HOX4G, Hox-4.7, homeobox D1
External IDs	OMIM: 142987; MGI: 96201; HomoloGene: 7772; GeneCards: HOXD1; OMA:HOXD1 - orthologs
Gene location (Human) Chr. Chromosome 2 (human) [1] Band 2q31.1 Start 176,188,668 bp [1] End 176,190,907 bp [1]
Gene location (Mouse) Chr. Chromosome 2 (mouse) [2] Band 2 C3|2 44.13 cM Start 74,593,324 bp [2] End 74,595,486 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in corpus epididymis gonad metanephric glomerulus C1 segment secondary oocyte spinal ganglia caput epididymis testicle inferior ganglion of vagus nerve mucosa of sigmoid colon Top expressed in lumbar spinal ganglion trigeminal ganglion tail of embryo secondary follicle of ovary germinal epithelium primitive streak somatopleuric mesenchyme embryo ovarian follicle cell Bowman's capsule 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 Species Human Mouse 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 Mb Chr 2: 74.59 – 74.6 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/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

• Homeobox

References

1. GRCh38: Ensembl release 89: ENSG00000128645 – Ensembl, May 2017
2. 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. "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 (inactive 2024-08-22). 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

• HOXD1+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)

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