HOXD1

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

AliasesHOXD1, HOX4, HOX4G, Hox-4.7, homeobox D1

External IDsOMIM: 142987; MGI: 96201; GeneCards: HOXD1

Chr.Chromosome 2 (human)^[1]

End176,190,907 bp^[1]

Quick facts Identifiers, Aliases ...

HOXD1
Identifiers
Aliases	HOXD1, HOX4, HOX4G, Hox-4.7, homeobox D1
External IDs	OMIM: 142987; MGI: 96201; GeneCards: HOXD1
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 Databases NCBI: entry; OMA: entry 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

Close

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]