HOXA5 homeobox A5 [Homo sapiens (human)] - Gene

Summary

Official Symbol: HOXA5provided by HGNC
Official Full Name: homeobox A5provided by HGNC
Primary source: HGNC:HGNC:5106
See related: Ensembl:ENSG00000106004 MIM:142952; AllianceGenome:HGNC:5106
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; HOX1C; HOX1.3
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. Methylation of this gene may result in the loss of its expression and, since the encoded protein upregulates the tumor suppressor p53, this protein may play an important role in tumorigenesis. [provided by RefSeq, Jul 2008]
Expression: Biased expression in adrenal (RPKM 48.1), lung (RPKM 14.3) and 8 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 (27141052..27143681, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (27277027..27279657, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (27180671..27183300, 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 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?

Hypermethylation leads to the loss of HOXA5, resulting in JAG1 expression and NOTCH signaling contributing to kidney fibrosis.
Title: Hypermethylation leads to the loss of HOXA5, resulting in JAG1 expression and NOTCH signaling contributing to kidney fibrosis.
The Transcription Factor HOXA5: Novel Insights into Metabolic Diseases and Adipose Tissue Dysfunction.
Title: The Transcription Factor HOXA5: Novel Insights into Metabolic Diseases and Adipose Tissue Dysfunction.
HOXA5 is a key regulator of class 3 semaphorins expression in the synovium of rheumatoid arthritis patients.
Title: HOXA5 is a key regulator of class 3 semaphorins expression in the synovium of rheumatoid arthritis patients.
Deregulation of miR-375 Inhibits HOXA5 and Promotes Migration, Invasion, and Cell Proliferation in Breast Cancer.
Title: Deregulation of miR-375 Inhibits HOXA5 and Promotes Migration, Invasion, and Cell Proliferation in Breast Cancer.
HOXA5 inhibits the proliferation and metastasis of cervical squamous cell carcinoma by suppressing the beta-catenin/Snail signaling.
Title: HOXA5 inhibits the proliferation and metastasis of cervical squamous cell carcinoma by suppressing the β-catenin/Snail signaling.
CircNTNG1 inhibits renal cell carcinoma progression via HOXA5-mediated epigenetic silencing of Slug.
Title: CircNTNG1 inhibits renal cell carcinoma progression via HOXA5-mediated epigenetic silencing of Slug.
HOXA5 is amplified in glioblastoma stem cells and promotes tumor progression by transcriptionally activating PTPRZ1.
Title: HOXA5 is amplified in glioblastoma stem cells and promotes tumor progression by transcriptionally activating PTPRZ1.
Epigenetic Dysregulation of the Homeobox A5 (HOXA5) Gene Associates with Subcutaneous Adipocyte Hypertrophy in Human Obesity.
Title: Epigenetic Dysregulation of the Homeobox A5 (HOXA5) Gene Associates with Subcutaneous Adipocyte Hypertrophy in Human Obesity.
Expression Landscape and Functional Roles of HOXA4 and HOXA5 in Lung Adenocarcinoma.
Title: Expression Landscape and Functional Roles of HOXA4 and HOXA5 in Lung Adenocarcinoma.
MiR-301b-3p Promotes the Occurrence and Development of Breast Cancer Cells via Targeting HOXA5.
Title: MiR-301b-3p Promotes the Occurrence and Development of Breast Cancer Cells via Targeting HOXA5.

Submit: New GeneRIF Correction See all GeneRIFs (71)

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

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

Hoxa5 (e-PCR), detects polymorphism
- UniSTS:143368

ECD04652 (e-PCR)
- UniSTS:285723

Hoxa5 (e-PCR), detects polymorphism
- UniSTS:265255

ECD02852 (e-PCR)
- UniSTS:283945

MARC_6217-6218:992007117:1 (e-PCR)
- UniSTS:231213

UniSTS:57649 (e-PCR)
- UniSTS:57649

ECD01324 (e-PCR)
- UniSTS:282430

Hoxa5 (e-PCR), detects polymorphism
- UniSTS:536643

Hoxa5 (e-PCR), detects polymorphism
- UniSTS:239193

REN100510 (e-PCR)
- UniSTS:425307

REN100511 (e-PCR)
- UniSTS:425308

REN100512 (e-PCR)
- UniSTS:425309

REN100513 (e-PCR)
- UniSTS:425310

REN100514 (e-PCR)
- UniSTS:425311

REN100519 (e-PCR)
- UniSTS:425316

REN100520 (e-PCR)
- UniSTS:425317

ECD02396 (e-PCR)
- UniSTS:283494

REN100521 (e-PCR)
- UniSTS:425318

REN100522 (e-PCR)
- UniSTS:425319

REN100523 (e-PCR)
- UniSTS:425320

REN100524 (e-PCR)
- UniSTS:425321

REN100525 (e-PCR)
- UniSTS:425322

REN100526 (e-PCR)
- UniSTS:425323

REN100527 (e-PCR)
- UniSTS:425324

REN100528 (e-PCR)
- UniSTS:425325

REN100529 (e-PCR)
- UniSTS:425326

REN100530 (e-PCR)
- UniSTS:425327

REN100531 (e-PCR)
- UniSTS:425328

ECD09662 (e-PCR)
- UniSTS:290703

stSG609349 (e-PCR)
- UniSTS:449442

HOXA5_3307 (e-PCR)
- UniSTS:462253

HOX1 (e-PCR)
- UniSTS:52195

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
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 RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sequence-specific double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in anterior/posterior pattern specification	IBA Inferred from Biological aspect of Ancestor more info
involved_in bronchiole development	IEA Inferred from Electronic Annotation more info
involved_in cell migration	IEA Inferred from Electronic Annotation more info
involved_in cell-cell signaling involved in mammary gland development	IEA Inferred from Electronic Annotation more info
involved_in embryonic skeletal system morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in epithelial tube branching involved in lung morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in intestinal epithelial cell maturation	IEA Inferred from Electronic Annotation more info
involved_in lung alveolus development	IEA Inferred from Electronic Annotation more info
involved_in lung goblet cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in lung-associated mesenchyme development	IEA Inferred from Electronic Annotation more info
involved_in mammary gland alveolus development	IEA Inferred from Electronic Annotation more info
involved_in mammary gland epithelial cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in mesenchymal-epithelial cell signaling	IEA Inferred from Electronic Annotation more info
involved_in multicellular organism growth	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of angiogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of erythrocyte differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of apoptotic process	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of gene expression	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of myeloid cell differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of mammary gland epithelial cell proliferation	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 respiratory system process	IEA Inferred from Electronic Annotation more info
involved_in thyroid gland development	IEA Inferred from Electronic Annotation more info
involved_in trachea cartilage morphogenesis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in chromatin	ISA Inferred from Sequence Alignment more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: homeobox protein Hox-A5

Names: homeo box 1C; homeo box A5; homeobox protein HOXA5; homeobox protein Hox-1C

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.