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)
End	176,190,907 bp
Gene location (Mouse)
Chr.	Chromosome 2 (mouse)
End	74,595,486 bp
RNA expression pattern
	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
	; ;
	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
	3231
	15429
	ENSG00000128645
	ENSMUSG00000042448
	Q9GZZ0
	Q01822
	NM_024501
	NM_010467
	NP_078777
	NP_034597
	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]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000128645 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000042448 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ 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.
^ 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.
^ ^a ^b "Entrez Gene: HOXD1 homeobox D1".

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.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000128645 – Ensembl, May 2017

[refGRCm38Ensembl-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.

[pmid1973146-5] 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.

[pmid1358459-6] 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.

[entrez-7] "Entrez Gene: HOXD1 homeobox D1".

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HOXD1

See also

References

Further reading

External links