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 g... See more...

Aliases for HOXA5 Gene

Aliases for HOXA5 Gene

  • Homeobox A5 2 3 5
  • Homeobox Protein Hox-A5 3 4
  • Homeobox Protein Hox-1C 3 4
  • Homeo Box A5 2 3
  • HOX1C 3 4
  • Homeobox Protein HOXA5 3
  • Homeo Box 1C 3
  • HOX1.3 3
  • HOXA5 5
  • HOX1 3

External Ids for HOXA5 Gene

Previous HGNC Symbols for HOXA5 Gene

  • HOX1C
  • HOX1

Previous GeneCards Identifiers for HOXA5 Gene

  • GC07M026823
  • GC07M026923
  • GC07M026954
  • GC07M027147
  • GC07M027061
  • GC07M027180

Summaries for HOXA5 Gene

Entrez Gene Summary for HOXA5 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. 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]

GeneCards Summary for HOXA5 Gene

HOXA5 (Homeobox A5) is a Protein Coding gene. Diseases associated with HOXA5 include Embryonal Carcinoma and Breast Cancer. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and RNA polymerase II proximal promoter sequence-specific DNA binding. An important paralog of this gene is HOXB5.

UniProtKB/Swiss-Prot Summary for HOXA5 Gene

  • Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. Also binds to its own promoter. Binds specifically to the motif 5'-CYYNATTA[TG]Y-3'.

Gene Wiki entry for HOXA5 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for HOXA5 Gene

Genomics for HOXA5 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for HOXA5 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HOXA5 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for HOXA5

Top Transcription factor binding sites by QIAGEN in the HOXA5 gene promoter:
  • AP-2alpha
  • AP-2alphaA
  • AP-2beta
  • AP-2gamma
  • c-Myb
  • FOXO1
  • Sp1

Genomic Locations for HOXA5 Gene

Latest Assembly
chr7:27,141,052-27,143,681
(GRCh38/hg38)
Size:
2,630 bases
Orientation:
Minus strand

Previous Assembly
chr7:27,180,671-27,183,300
(GRCh37/hg19 by Entrez Gene)
Size:
2,630 bases
Orientation:
Minus strand

chr7:27,180,671-27,183,287
(GRCh37/hg19 by Ensembl)
Size:
2,617 bases
Orientation:
Minus strand

Genomic View for HOXA5 Gene

Genes around HOXA5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HOXA5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HOXA5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HOXA5 Gene

Proteins for HOXA5 Gene

  • Protein details for HOXA5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P20719-HXA5_HUMAN
    Recommended name:
    Homeobox protein Hox-A5
    Protein Accession:
    P20719
    Secondary Accessions:
    • A4D179
    • O43367
    • Q96CY6

    Protein attributes for HOXA5 Gene

    Size:
    270 amino acids
    Molecular mass:
    29345 Da
    Quaternary structure:
    No Data Available

neXtProt entry for HOXA5 Gene

Post-translational modifications for HOXA5 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for HOXA5 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for HOXA5 Gene

Domains & Families for HOXA5 Gene

Gene Families for HOXA5 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for HOXA5 Gene

Suggested Antigen Peptide Sequences for HOXA5 Gene

GenScript: Design optimal peptide antigens:
  • Homeobox protein Hox-1C (HXA5_HUMAN)
  • HOXA5 protein (Q6FG31_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P20719

UniProtKB/Swiss-Prot:

HXA5_HUMAN :
  • Belongs to the Antp homeobox family.
Family:
  • Belongs to the Antp homeobox family.
genes like me logo Genes that share domains with HOXA5: view

Function for HOXA5 Gene

Molecular function for HOXA5 Gene

UniProtKB/Swiss-Prot Function:
Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. Also binds to its own promoter. Binds specifically to the motif 5'-CYYNATTA[TG]Y-3'.
GENATLAS Biochemistry:
homeo box A5(1C),homologous to mouse Hox-1.3,Drosophila Scr,expressed during early myelopoiesis,involved in the regulation of hematopoietic lineage determination and maturation,inhibiting erythropoiesis and promoting myelopoiesis

Phenotypes From GWAS Catalog for HOXA5 Gene

Gene Ontology (GO) - Molecular Function for HOXA5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IDA 10879542
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific ISA --
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific IDA 10879542
GO:0003677 DNA binding IDA 8657138
GO:0003700 DNA-binding transcription factor activity IDA 10879542
genes like me logo Genes that share ontologies with HOXA5: view
genes like me logo Genes that share phenotypes with HOXA5: view

Animal Models for HOXA5 Gene

MGI Knock Outs for HOXA5:

Transcription Factor Targets for HOXA5 Gene

Selected GeneGlobe predicted Target genes for HOXA5

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HOXA5

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology and HOMER Transcription for HOXA5 Gene

Localization for HOXA5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HOXA5 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HOXA5 gene
Compartment Confidence
nucleus 5
plasma membrane 2
extracellular 2
cytoskeleton 2
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
cytosol 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for HOXA5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000785 chromatin ISA --
GO:0005634 nucleus IBA,IDA 15545268
genes like me logo Genes that share ontologies with HOXA5: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for HOXA5 Gene

Pathways & Interactions for HOXA5 Gene

PathCards logo

SuperPathways for HOXA5 Gene

No Data Available

SIGNOR curated interactions for HOXA5 Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for HOXA5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001501 skeletal system development IEA --
GO:0002009 morphogenesis of an epithelium IEA --
GO:0003016 respiratory system process IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription by RNA polymerase II IBA 21873635
genes like me logo Genes that share ontologies with HOXA5: view

No data available for Pathways by source for HOXA5 Gene

Drugs & Compounds for HOXA5 Gene

(1) Drugs for HOXA5 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for HOXA5 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with HOXA5: view

Transcripts for HOXA5 Gene

mRNA/cDNA for HOXA5 Gene

1 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HOXA5

Alternative Splicing Database (ASD) splice patterns (SP) for HOXA5 Gene

No ASD Table

Relevant External Links for HOXA5 Gene

GeneLoc Exon Structure for
HOXA5

Expression for HOXA5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for HOXA5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for HOXA5 Gene

This gene is overexpressed in Fallopian Tube (x6.8) and Adrenal Gland (x6.1).

Protein differential expression in normal tissues from HIPED for HOXA5 Gene

This gene is overexpressed in Cervix (50.7), Platelet (11.3), and Fetal heart (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for HOXA5 Gene



Protein tissue co-expression partners for HOXA5 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for HOXA5

SOURCE GeneReport for Unigene cluster for HOXA5 Gene:

Hs.655218

Evidence on tissue expression from TISSUES for HOXA5 Gene

  • Nervous system(2.7)
  • Lung(2.4)
  • Kidney(2.2)
  • Intestine(2.2)
  • Skin(2.1)
  • Muscle(2.1)
  • Adrenal gland(2.1)
  • Heart(2)
genes like me logo Genes that share expression patterns with HOXA5: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for HOXA5 Gene

Orthologs for HOXA5 Gene

This gene was present in the common ancestor of animals.

Orthologs for HOXA5 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia HOXA5 29 30
  • 99.63 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia HOXA5 29 30
  • 97.41 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia HOXA5 29 30
  • 97.16 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Hoxa5 29
  • 94.94 (n)
Mouse
(Mus musculus)
Mammalia Hoxa5 29 16 30
  • 94.57 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia HOXA5 30
  • 86 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia HOXA5 30
  • 86 (a)
OneToOne
Chicken
(Gallus gallus)
Aves HOXA5 29 30 30 30
  • 84.51 (n)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia HOXA5 30
  • 66 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia hoxa5 29
  • 79.73 (n)
Zebrafish
(Danio rerio)
Actinopterygii hoxa5a 29 30
  • 68.31 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta Dfd 31
  • 76 (a)
Scr 31
  • 74 (a)
ftz 30
  • 20 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 36 (a)
OneToMany
Species where no ortholog for HOXA5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for HOXA5 Gene

ENSEMBL:
Gene Tree for HOXA5 (if available)
TreeFam:
Gene Tree for HOXA5 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for HOXA5: view image
Alliance of Genome Resources:
Additional Orthologs for HOXA5

Paralogs for HOXA5 Gene

(16) SIMAP similar genes for HOXA5 Gene using alignment to 2 proteins:

  • HXA5_HUMAN
  • Q6FG31_HUMAN
genes like me logo Genes that share paralogs with HOXA5: view

Variants for HOXA5 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for HOXA5 Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
rs149964084 Benign: not provided 27,143,527(-) A/G
NM_019102.4(HOXA5):c.81T>C (p.His27=)
SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for HOXA5 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for HOXA5 Gene

Variant ID Type Subtype PubMed ID
dgv1094n67 CNV gain 20364138
dgv11244n54 CNV loss 21841781
nsv526526 CNV loss 19592680
nsv5674 CNV deletion 18451855
nsv606465 CNV loss 21841781
nsv7393 OTHER inversion 18451855
nsv824042 CNV gain 20364138

Variation tolerance for HOXA5 Gene

Residual Variation Intolerance Score: 21.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.82; 17.19% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HOXA5 Gene

Human Gene Mutation Database (HGMD)
HOXA5
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HOXA5
Leiden Open Variation Database (LOVD)
HOXA5

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HOXA5 Gene

Disorders for HOXA5 Gene

MalaCards: The human disease database

(3) MalaCards diseases for HOXA5 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
embryonal carcinoma
  • primary extragonadal embryonal carcinoma
breast cancer
  • breast cancer, familial
leukemia, acute myeloid
  • aml
- elite association - COSMIC cancer census association via MalaCards
Search HOXA5 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for HOXA5

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with HOXA5: view

No data available for UniProtKB/Swiss-Prot and Genatlas for HOXA5 Gene

Publications for HOXA5 Gene

  1. High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men. (PMID: 19453261) Yerges LM … MrOS Research Group (Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2009) 3 40
  2. Altered transmission of HOX and apoptotic SNPs identify a potential common pathway for clubfoot. (PMID: 19938081) Ester AR … Hecht JT (American journal of medical genetics. Part A 2009) 3 40
  3. Regulation of angiogenesis through a microRNA (miR-130a) that down-regulates antiangiogenic homeobox genes GAX and HOXA5. (PMID: 17957028) Chen Y … Gorski DH (Blood 2008) 3 22
  4. Expression pattern of a homeotic gene, HOXA5, in normal breast and in breast tumors. (PMID: 17167183) Henderson GS … Raman V (Cellular oncology : the official journal of the International Society for Cellular Oncology 2006) 3 22
  5. HOXA5 regulates hMLH1 expression in breast cancer cells. (PMID: 16756717) Duriseti S … Raman V (Neoplasia (New York, N.Y.) 2006) 3 22

Products for HOXA5 Gene

Sources for HOXA5 Gene