HOXA11 homeobox A11 [Homo sapiens (human)] - Gene

Summary

Official Symbol: HOXA11provided by HGNC
Official Full Name: homeobox A11provided by HGNC
Primary source: HGNC:HGNC:5101
See related: Ensembl:ENSG00000005073 MIM:142958; AllianceGenome:HGNC:5101
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: HOX1; HOX1I; RUSAT1
Summary: 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]
Expression: Biased expression in endometrium (RPKM 34.9), prostate (RPKM 6.8) and 4 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 7p15.2

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (27181157..27185232, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (27317166..27321240, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (27220776..27224851, complement)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Tumor-mesothelium HOXA11-PDGF BB/TGF beta1-miR-181a-5p-Egr1 feedforward amplifier circuity propels mesothelial fibrosis and peritoneal metastasis of gastric cancer.
Title: Tumor-mesothelium HOXA11-PDGF BB/TGF β1-miR-181a-5p-Egr1 feedforward amplifier circuity propels mesothelial fibrosis and peritoneal metastasis of gastric cancer.
Endometrial Injury Upregulates Expression of Receptivity Genes in Women with Implantation Failure.
Title: Endometrial Injury Upregulates Expression of Receptivity Genes in Women with Implantation Failure.
Cooperation between NSPc1 and DNA methylation represses HOXA11 expression and promotes apoptosis of trophoblast cells during preeclampsia.
Title: Cooperation between NSPc1 and DNA methylation represses HOXA11 expression and promotes apoptosis of trophoblast cells during preeclampsia.
lncRNA HOXA11-AS maintains the stemness of oral squamous cell carcinoma stem cells and reduces the radiosensitivity by targeting miR-518a-3p/PDK1.
Title: lncRNA HOXA11-AS maintains the stemness of oral squamous cell carcinoma stem cells and reduces the radiosensitivity by targeting miR-518a-3p/PDK1.
The lncRNA HOXA11-AS acts as a tumor promoter in breast cancer through regulation of the miR-125a-5p/TMPRSS4 axis.
Title: The lncRNA HOXA11-AS acts as a tumor promoter in breast cancer through regulation of the miR-125a-5p/TMPRSS4 axis.
Decreased expression of transcription factor Homeobox A11 and its potential target genes in bladder cancer.
Title: Decreased expression of transcription factor Homeobox A11 and its potential target genes in bladder cancer.
Combined expression of HOXA11 and CD10 identifies endometriosis versus normal tissue and tumors.
Title: Combined expression of HOXA11 and CD10 identifies endometriosis versus normal tissue and tumors.
HOXA11 plays critical roles in disease progression and response to cytarabine in AML.
Title: HOXA11 plays critical roles in disease progression and response to cytarabine in AML.
Long noncoding RNA HOXA11AS accelerates cell proliferation and epithelialmesenchymal transition in hepatocellular carcinoma by modulating the miR5063p/Slug axis.
Title: Long non‑coding RNA HOXA11‑AS accelerates cell proliferation and epithelial‑mesenchymal transition in hepatocellular carcinoma by modulating the miR‑506‑3p/Slug axis.
A homozygous HOXA11 variation as a potential novel cause of autosomal recessive congenital anomalies of the kidney and urinary tract.
Title: A homozygous HOXA11 variation as a potential novel cause of autosomal recessive congenital anomalies of the kidney and urinary tract.

Submit: New GeneRIF Correction See all GeneRIFs (61)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 MedGen: C4551975 OMIM: 605432 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

REN100688 (e-PCR)
- UniSTS:425485

REN100689 (e-PCR)
- UniSTS:425486

REN100690 (e-PCR)
- UniSTS:425487

REN100691 (e-PCR)
- UniSTS:425488

REN100692 (e-PCR)
- UniSTS:425489

REN100693 (e-PCR)
- UniSTS:425490

REN100694 (e-PCR)
- UniSTS:425491

REN100695 (e-PCR)
- UniSTS:425492

REN100696 (e-PCR)
- UniSTS:425493

REN100697 (e-PCR)
- UniSTS:425494

REN100704 (e-PCR)
- UniSTS:425501

REN100705 (e-PCR)
- UniSTS:425502

REN100706 (e-PCR)
- UniSTS:425503

REN100708 (e-PCR)
- UniSTS:425505

REN100709 (e-PCR)
- UniSTS:425506

ECD11608 (e-PCR)
- UniSTS:292644

REN100713 (e-PCR)
- UniSTS:425510

SHGC-33814 (e-PCR)
- UniSTS:76593

Hoxa11 (e-PCR), detects polymorphism
- UniSTS:536638

ECD01069 (e-PCR)
- UniSTS:282176

ECD05496 (e-PCR)
- UniSTS:286560

ECD09889 (e-PCR)
- UniSTS:290930

ECD10174 (e-PCR)
- UniSTS:291214

ECD08128 (e-PCR)
- UniSTS:289176

stSG609385 (e-PCR)
- UniSTS:449470

ECD09746 (e-PCR)
- UniSTS:290787

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables sequence-specific double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in anatomical structure morphogenesis	TAS Traceable Author Statement more info	PubMed
involved_in anterior/posterior pattern specification	IEA Inferred from Electronic Annotation more info
involved_in branching involved in ureteric bud morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in cartilage development involved in endochondral bone morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in chondrocyte development	IEA Inferred from Electronic Annotation more info
involved_in developmental growth	ISS Inferred from Sequence or Structural Similarity more info
involved_in dorsal/ventral pattern formation	ISS Inferred from Sequence or Structural Similarity more info
involved_in embryonic digit morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in embryonic forelimb morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in embryonic limb morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in embryonic skeletal joint morphogenesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in male gonad development	IEA Inferred from Electronic Annotation more info
involved_in mesodermal cell fate specification	ISS Inferred from Sequence or Structural Similarity more info
involved_in metanephros development	IEA Inferred from Electronic Annotation more info
involved_in organ induction	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of DNA-templated transcription	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of cell development	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of chondrocyte development	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of chondrocyte differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in prostate gland development	IEA Inferred from Electronic Annotation more info
involved_in proximal/distal pattern formation	IEA Inferred from Electronic Annotation more info
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in response to estrogen	IEA Inferred from Electronic Annotation more info
involved_in response to testosterone	IEA Inferred from Electronic Annotation more info
involved_in single fertilization	IEA Inferred from Electronic Annotation more info
involved_in skeletal system development	ISS Inferred from Sequence or Structural Similarity more info
involved_in spermatogenesis	IEA Inferred from Electronic Annotation more info
involved_in uterus development	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in nucleoplasm	IDA Inferred from Direct Assay more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
part_of protein-DNA complex	ISS Inferred from Sequence or Structural Similarity more info
part_of protein-containing complex	ISS Inferred from Sequence or Structural Similarity more info
part_of transcription regulator complex	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: homeobox protein Hox-A11

Names: homeo box 1I; homeobox protein HOXA11; homeobox protein Hox-1I

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.