HOXA13 homeobox A13 [Homo sapiens (human)] - Gene

Summary

Official Symbol: HOXA13provided by HGNC
Official Full Name: homeobox A13provided by HGNC
Primary source: HGNC:HGNC:5102
See related: Ensembl:ENSG00000106031 MIM:142959; AllianceGenome:HGNC:5102
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; HOX1J
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. Expansion of a polyalanine tract in the encoded protein can cause hand-foot-uterus syndrome, also known as hand-foot-genital syndrome. [provided by RefSeq, Jul 2008]
Expression: Biased expression in prostate (RPKM 14.7), placenta (RPKM 10.9) and 2 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 (27194364..27200091, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (27330371..27336079, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (27233983..27239710, 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: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Hsa-microRNA-1249-3p/Homeobox A13 axis modulates the expression of beta-catenin gene in human epithelial cells.
Title: Hsa-microRNA-1249-3p/Homeobox A13 axis modulates the expression of β-catenin gene in human epithelial cells.
HOXA13 promotes the proliferation, migration, and invasion of nasopharyngeal carcinoma HNE1 cells by upregulating the expression of Snail and MMP-2.
Title: HOXA13 promotes the proliferation, migration, and invasion of nasopharyngeal carcinoma HNE1 cells by upregulating the expression of Snail and MMP-2.
Long non-coding RNA HOTTIP exerts an oncogenic function by regulating HOXA13 in nasopharyngeal carcinoma.
Title: Long non-coding RNA HOTTIP exerts an oncogenic function by regulating HOXA13 in nasopharyngeal carcinoma.
Conclusion of diagnostic odysseys due to inversions disrupting GLI3 and FBN1.
Title: Conclusion of diagnostic odysseys due to inversions disrupting GLI3 and FBN1.
Hand-foot-genital syndrome due to a duplication variant in the GC-rich region of HOXA13.
Title: Hand-foot-genital syndrome due to a duplication variant in the GC-rich region of HOXA13.
Circ_0008726 promotes malignant progression of ESCC cells through miR-206/HOXA13 pathway.
Title: Circ_0008726 promotes malignant progression of ESCC cells through miR-206/HOXA13 pathway.
Identification of a Novel circ_0010235/miR-1249-3p/HOXA13 Axis in Lung Adenocarcinoma.
Title: Identification of a Novel circ_0010235/miR-1249-3p/HOXA13 Axis in Lung Adenocarcinoma.
MiR-369-5p inhibits the proliferation and migration of hepatocellular carcinoma cells by down-regulating HOXA13 expression.
Title: MiR-369-5p inhibits the proliferation and migration of hepatocellular carcinoma cells by down-regulating HOXA13 expression.
Homeobox-A13 acts as a functional prognostic and diagnostic biomarker via regulating P53 and Wnt signaling pathways in lung cancer.
Title: Homeobox-A13 acts as a functional prognostic and diagnostic biomarker via regulating P53 and Wnt signaling pathways in lung cancer.
IGF1-mediated HOXA13 overexpression promotes colorectal cancer metastasis through upregulating ACLY and IGF1R.
Title: IGF1-mediated HOXA13 overexpression promotes colorectal cancer metastasis through upregulating ACLY and IGF1R.

Submit: New GeneRIF Correction See all GeneRIFs (65)

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
Guttmacher syndrome MedGen: C1867801 OMIM: 176305 GeneReviews: Not available	Compare labs
Hand-foot-genital syndrome MedGen: C1841679 OMIM: 140000 GeneReviews: Hand-Foot-Genital Syndrome	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)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	HIV-1 Tat specifically associates with HOXA13 promoter to upregulate HOXA13 expression in T cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

ECD05144 (e-PCR)
- UniSTS:286210

ECD04374 (e-PCR)
- UniSTS:285446

ECD14412 (e-PCR)
- UniSTS:295433

ECD01531 (e-PCR)
- UniSTS:282634

GDB:1318328 (e-PCR)
- UniSTS:56594

ECD03884 (e-PCR)
- UniSTS:284964

ECD03380 (e-PCR)
- UniSTS:284465

ECD03381 (e-PCR)
- UniSTS:284466

ECD03125 (e-PCR)
- UniSTS:284212

ECD09062 (e-PCR)
- UniSTS:290108

ECD16773 (e-PCR)
- UniSTS:297788

NoName (e-PCR)
- UniSTS:481598

ECD17289 (e-PCR)
- UniSTS:298302

Hoxa13 (e-PCR), detects polymorphism
- UniSTS:536639

ECD12925 (e-PCR)
- UniSTS:293956

ECD18837 (e-PCR)
- UniSTS:299847

ECD15248 (e-PCR)
- UniSTS:296265

ECD04443 (e-PCR)
- UniSTS:285515

SHGC-107406 (e-PCR)
- UniSTS:170319

ECD04965 (e-PCR)
- UniSTS:286033

ECD12682 (e-PCR)
- UniSTS:293715

REN100759 (e-PCR)
- UniSTS:425556

REN100760 (e-PCR)
- UniSTS:425557

REN100761 (e-PCR)
- UniSTS:425558

REN100762 (e-PCR)
- UniSTS:425559

REN100763 (e-PCR)
- UniSTS:425560

REN100764 (e-PCR)
- UniSTS:425561

ECD15520 (e-PCR)
- UniSTS:296537

REN100765 (e-PCR)
- UniSTS:425562

REN100771 (e-PCR)
- UniSTS:425568

REN100773 (e-PCR)
- UniSTS:425570

ECD22731 (e-PCR)
- UniSTS:303716

REN100776 (e-PCR)
- UniSTS:425573

ECD20412 (e-PCR)
- UniSTS:301415

REN100779 (e-PCR)
- UniSTS:425576

Hoxa13 (e-PCR), detects polymorphism
- UniSTS:547441

ECD07055 (e-PCR)
- UniSTS:288113

ECD13229 (e-PCR)
- UniSTS:294259

REN100792 (e-PCR)
- UniSTS:425589

ECD12718 (e-PCR)
- UniSTS:293751

RH93295 (e-PCR)
- UniSTS:86904

ECD11436 (e-PCR)
- UniSTS:292472

REN100795 (e-PCR)
- UniSTS:425592

ECD08102 (e-PCR)
- UniSTS:289150

REN100808 (e-PCR)
- UniSTS:425605

REN100811 (e-PCR)
- UniSTS:425608

ECD15569 (e-PCR)
- UniSTS:296586

ECD02701 (e-PCR)
- UniSTS:283795

ECD22264 (e-PCR)
- UniSTS:303252

REN100824 (e-PCR)
- UniSTS:425621

ECD03499 (e-PCR)
- UniSTS:284581

REN100840 (e-PCR)
- UniSTS:425637

ECD01435 (e-PCR)
- UniSTS:282538

ECD05314 (e-PCR)
- UniSTS:286380

ECD09955 (e-PCR)
- UniSTS:290995

ECD21522 (e-PCR)
- UniSTS:302517

RH66791 (e-PCR)
- UniSTS:1216

ECD22571 (e-PCR)
- UniSTS:303557

ECD04307 (e-PCR)
- UniSTS:285385

stSG609399 (e-PCR)
- UniSTS:449481

stSG609400 (e-PCR)
- UniSTS:449482

ECD01736 (e-PCR)
- UniSTS:282837

ECD01737 (e-PCR)
- UniSTS:282838

ECD23618 (e-PCR)
- UniSTS:304602

ECD05107 (e-PCR)
- UniSTS:286173

ECD23379 (e-PCR)
- UniSTS:304363

ECD15160 (e-PCR)
- UniSTS:296177

Hoxa13 (e-PCR), detects polymorphism
- UniSTS:265718

ECD05913 (e-PCR)
- UniSTS:286975

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	TAS Traceable Author Statement more info	PubMed
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IEA Inferred from Electronic Annotation more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment 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 DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables sequence-specific DNA binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables sequence-specific double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in artery morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in branching involved in prostate gland morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in embryonic forelimb morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in embryonic hindgut morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in endothelial cell fate specification	IEA Inferred from Electronic Annotation more info
involved_in endothelial cell morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in inner ear development	IEA Inferred from Electronic Annotation more info
involved_in male genitalia development	IEA Inferred from Electronic Annotation more info
involved_in mesenchymal cell apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in mitotic nuclear division	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of mesenchymal cell apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of mitotic nuclear division	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in regulation of BMP signaling pathway	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 testosterone	IEA Inferred from Electronic Annotation more info
involved_in skeletal system development	TAS Traceable Author Statement more info	PubMed
involved_in tissue homeostasis	IEA Inferred from Electronic Annotation more info
involved_in transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in vasculogenesis	IEA Inferred from Electronic Annotation more info
involved_in ventricular septum development	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in chromatin	ISA Inferred from Sequence Alignment more info
located_in chromosome	IDA Inferred from Direct Assay more info
located_in intermediate filament cytoskeleton	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: homeobox protein Hox-A13

Names: homeo box 1J; homeo box A13; homeobox protein HOXA13; homeobox protein Hox-1J; transcription factor HOXA13

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.