HOXD3
Homeobox protein Hox-D3
Also known as: HOX1D, HOX4, HOX4A, HXD3_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P31249
- Gene
- HOXD3
- Ensembl
- ENSG00000128652
- Chromosome
- 2
- Canonical length
- 432 aa
- Protein class
- Predicted intracellular proteins, Transcription factors
- Subcellular location
- Nucleoplasm,Nuclear bodies
OverviewNCBI Gene
This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXD genes located at 2q31-2q37 chromosome regions. Deletions that removed the entire HOXD gene cluster or 5' end of this cluster have been associated with severe limb and genital abnormalities. The protein encoded by this gene may play a role in the regulation of cell adhesion processes. [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
432 residues, UniProt reviewed canonical sequence.
>P31249|HOXD3
1 MLFEQGQQAL ELPECTMQKA AYYENPGLFG GYGYSKTTDT YGYSTPHQPY PPPAAASSLD
61 TDYPGSACSI QSSAPLRAPA HKGAELNGSC MRPGTGNSQG GGGGSQPPGL NSEQQPPQPP
121 PPPPTLPPSS PTNPGGGVPA KKPKGGPNAS SSSATISKQI FPWMKESRQN SKQKNSCATA
181 GESCEDKSPP GPASKRVRTA YTSAQLVELE KEFHFNRYLC RPRRVEMANL LNLTERQIKI
241 WFQNRRMKYK KDQKAKGILH SPASQSPERS PPLGGAAGHV AYSGQLPPVP GLAYDAPSPP
301 AFAKSQPNMY GLAAYTAPLS SCLPQQKRYA APEFEPHPMA SNGGGFASAN LQGSPVYVGG
361 NFVESMAPAS GPVFNLGHLS HPSSASVDYS CAAQIPGNHH HGPCDPHPTY TDLSAHHSSQ
421 GRLPEAPKLT HLLocalizationUniProt · AlphaFold · HPA
Whether an antibody against HOXD3 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.69
- Highest tissue expression
- 39 nTPM
Expression across tissuesHPA
Tissue
- epididymis: 39 nTPM
- endometrium: 11 nTPM
- kidney: 11 nTPM
- ovary: 7.3 nTPM
- seminal vesicle: 6.6 nTPM
- fallopian tube: 6.4 nTPM
Single-cell type
- epididymal principal cells: 214 nCPM
- distal convoluted tubule cells: 190 nCPM
- renal connecting tubule cells: 151 nCPM
- renal collecting duct principal cells: 138 nCPM
- epididymal efferent duct absorptive cells: 97 nCPM
- lymphatic endothelial cells: 88 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- medulla oblongata: 19 nTPM
- pons: 12 nTPM
- spinal cord: 12 nTPM
- white matter: 9.8 nTPM
- midbrain: 1.3 nTPM
- basal ganglia: 0.8 nTPM
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.55
- gnomAD pLI
- 0.44
- gnomAD missense Z
- 1.09
- DepMap mean gene effect
- 0.09
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- anterior/posterior pattern specification
- cartilage development
- cell-matrix adhesion
- DNA-templated transcription
- embryonic skeletal system morphogenesis
- glossopharyngeal nerve morphogenesis
- Notch signaling pathway
- positive regulation of gene expression
- positive regulation of neuron differentiation
- positive regulation of transcription by RNA polymerase II
- regulation of transcription by RNA polymerase II
- thyroid gland development
Molecular functions
- DNA-binding transcription activator activity, RNA polymerase II-specific
- DNA-binding transcription factor activity, RNA polymerase II-specific
- RNA polymerase II cis-regulatory region sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific DNA binding
- sequence-specific double-stranded DNA binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads HOXD3 as an antibody target. Whether an autoantibody or antibody against HOXD3 could matter depends on whether native HOXD3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
HOXD3 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label HOXD3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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