HOXA11
Homeobox protein Hox-A11
Also known as: HOX1, HOX1I, HXA11_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P31270
- Gene
- HOXA11
- Ensembl
- ENSG00000005073
- Chromosome
- 7
- Canonical length
- 313 aa
- Protein class
- Cancer-related genes, Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors
- Subcellular location
- Nucleoplasm
OverviewNCBI Gene
In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. This gene is involved in the regulation of uterine development and is required for female fertility. Mutations in this gene can cause radio-ulnar synostosis with amegakaryocytic thrombocytopenia. [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
313 residues, UniProt reviewed canonical sequence.
>P31270|HOXA11
1 MDFDERGPCS SNMYLPSCTY YVSGPDFSSL PSFLPQTPSS RPMTYSYSSN LPQVQPVREV
61 TFREYAIEPA TKWHPRGNLA HCYSAEELVH RDCLQAPSAA GVPGDVLAKS SANVYHHPTP
121 AVSSNFYSTV GRNGVLPQAF DQFFETAYGT PENLASSDYP GDKSAEKGPP AATATSAAAA
181 AAATGAPATS SSDSGGGGGC RETAAAAEEK ERRRRPESSS SPESSSGHTE DKAGGSSGQR
241 TRKKRCPYTK YQIRELEREF FFSVYINKEK RLQLSRMLNL TDRQVKIWFQ NRRMKEKKIN
301 RDRLQYYSAN PLLLocalizationUniProt · AlphaFold · HPA
Whether an antibody against HOXA11 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)
- 0.65
- Highest tissue expression
- 80 nTPM
Expression across tissuesHPA
Tissue
- endometrium: 80 nTPM
- cervix: 52 nTPM
- smooth muscle: 39 nTPM
- colon: 21 nTPM
- urinary bladder: 16 nTPM
- prostate: 13 nTPM
Single-cell type
- endometrial stromal cells: 97 nCPM
- decidual stromal cells: 31 nCPM
- prostatic club cells: 18 nCPM
- prostatic hillock cells: 13 nCPM
- tuft cells: 12 nCPM
- basal prostatic cells: 9.6 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
- amygdala: 0 nTPM
- basal ganglia: 0 nTPM
- cerebellum: 0 nTPM
- cerebral cortex: 0 nTPM
- choroid plexus: 0 nTPM
- hippocampal formation: 0 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about HOXA11.
Disease | AllUniProt
Conditions HOXA11 is implicated in, by any mechanism.
- Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 (RUSAT1) MIM:605432
Disease | GeneticClinVar
3 pathogenic / likely-pathogenic of 88 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Radioulnar synostosis with amegakaryocytic thrombocytopenia 1
- Mesomelic dysplasia with urogenital abnormalities
- Inherited genitourinary tract anomalies
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)
- 0.33
- gnomAD pLI
- 0.94
- gnomAD missense Z
- 0.67
- DepMap mean gene effect
- -0.15
- DepMap dependency class
- selective
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
- anatomical structure morphogenesis
- anterior/posterior pattern specification
- branching involved in ureteric bud morphogenesis
- cartilage development involved in endochondral bone morphogenesis
- chondrocyte development
- developmental growth
- dorsal/ventral pattern formation
- embryonic digit morphogenesis
- embryonic forelimb morphogenesis
- embryonic limb morphogenesis
- embryonic skeletal joint morphogenesis
- male gonad development
- mesodermal cell fate specification
- metanephros development
- organ induction
- positive regulation of chondrocyte differentiation
- positive regulation of DNA-templated transcription
- prostate gland development
- proximal/distal pattern formation
- regulation of transcription by RNA polymerase II
- response to estrogen
- response to testosterone
- single fertilization
- skeletal system development
- spermatogenesis
- uterus development
- positive regulation of cell development
- positive regulation of chondrocyte development
Molecular functions
- DNA-binding transcription factor activity, RNA polymerase II-specific
- RNA polymerase II cis-regulatory region sequence-specific DNA binding
- sequence-specific double-stranded DNA binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of HOXA11 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads HOXA11 as an antibody target. Whether an autoantibody or antibody against HOXA11 could matter depends on whether native HOXA11 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
HOXA11 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 HOXA11 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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