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Aliases for HOXA13 Gene

Aliases for HOXA13 Gene

  • Homeobox A13 2 3
  • HOX1J 3 4 6
  • Homeobox Protein Hox-1J 3 4
  • Homeo Box A13 2 3
  • Transcription Factor HOXA13 3
  • Homeobox Protein Hox-A13 3
  • Homeobox Protein HOXA13 3
  • Homeo Box 1J 3
  • HOX1 3

External Ids for HOXA13 Gene

Previous Symbols for HOXA13 Gene

  • HOX1J
  • HOX1

Summaries for HOXA13 Gene

Entrez Gene Summary for HOXA13 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. 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]

GeneCards Summary for HOXA13 Gene

HOXA13 (Homeobox A13) is a Protein Coding gene. Diseases associated with HOXA13 include hand-foot-uterus syndrome and guttmacher syndrome. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and transcription regulatory region DNA binding. An important paralog of this gene is HOXD10.

UniProtKB/Swiss-Prot for HOXA13 Gene

  • Sequence-specific, AT-rich binding transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis

  • Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis

Gene Wiki entry for HOXA13 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HOXA13 Gene

Genomics for HOXA13 Gene

Genomic Location for HOXA13 Gene

Start:
27,193,503 bp from pter
End:
27,200,106 bp from pter
Size:
6,604 bases
Orientation:
Minus strand

Genomic View for HOXA13 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for HOXA13 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HOXA13 Gene

Regulatory Elements for HOXA13 Gene

Proteins for HOXA13 Gene

  • Protein details for HOXA13 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P31271-HXA13_HUMAN
    Recommended name:
    Homeobox protein Hox-A13
    Protein Accession:
    P31271
    Secondary Accessions:
    • A4D188
    • O43371

    Protein attributes for HOXA13 Gene

    Size:
    388 amino acids
    Molecular mass:
    39727 Da
    Quaternary structure:
    • Binds DNA as a homodimer. Interacts with MEIS1, MEIS2 and MEIS3 (By similarity).

    Three dimensional structures from OCA and Proteopedia for HOXA13 Gene

neXtProt entry for HOXA13 Gene

Proteomics data for HOXA13 Gene at MOPED

Post-translational modifications for HOXA13 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys303

Other Protein References for HOXA13 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for HOXA13 Gene

Domains for HOXA13 Gene

Gene Families for HOXA13 Gene

HGNC:
  • HOXL :Homeoboxes / ANTP class : HOXL subclass

Protein Domains for HOXA13 Gene

UniProtKB/Swiss-Prot:

HXA13_HUMAN
Domain:
  • Contains 1 homeobox DNA-binding domain.:
    • P31271
Family:
  • Belongs to the Abd-B homeobox family.:
    • P31271
genes like me logo Genes that share domains with HOXA13: view

Function for HOXA13 Gene

Molecular function for HOXA13 Gene

GENATLAS Biochemistry: homeo box A13(1J),homologous to mouse Hox-1.10 (hypodactyly),expressed in the developing lower genitourinary tract (abnormal seminal vesicle and prostate development),altered in hypodactyly mutants
UniProtKB/Swiss-Prot Function: Sequence-specific, AT-rich binding transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis
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

Gene Ontology (GO) - Molecular Function for HOXA13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding TAS 9020844
GO:0003700 sequence-specific DNA binding transcription factor activity IEA --
GO:0005515 protein binding --
GO:0043565 sequence-specific DNA binding IEA --
GO:0044212 transcription regulatory region DNA binding IEA --
genes like me logo Genes that share ontologies with HOXA13: view
genes like me logo Genes that share phenotypes with HOXA13: view

Animal Models for HOXA13 Gene

MGI Knock Outs for HOXA13:

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for HOXA13 Gene

Localization for HOXA13 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HOXA13 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for HOXA13 Gene COMPARTMENTS Subcellular localization image for HOXA13 gene
Compartment Confidence
nucleus 5

Gene Ontology (GO) - Cellular Components for HOXA13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm IDA --
GO:0045111 intermediate filament cytoskeleton IDA --
genes like me logo Genes that share ontologies with HOXA13: view

Pathways for HOXA13 Gene

SuperPathways for HOXA13 Gene

No Data Available

Gene Ontology (GO) - Biological Process for HOXA13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001501 skeletal system development TAS 9020844
GO:0001570 vasculogenesis IEA --
GO:0001886 endothelial cell morphogenesis IEA --
GO:0001894 tissue homeostasis IEA --
GO:0003281 ventricular septum development IEA --
genes like me logo Genes that share ontologies with HOXA13: view

No data available for Pathways by source for HOXA13 Gene

Compounds for HOXA13 Gene

(1) Novoseek inferred chemical compound relationships for HOXA13 Gene

Compound -log(P) Hits PubMed IDs
alanine 13.7 1
genes like me logo Genes that share compounds with HOXA13: view

Transcripts for HOXA13 Gene

mRNA/cDNA for HOXA13 Gene

(2) REFSEQ mRNAs :
(2) Additional mRNA sequences :
(47) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for HOXA13 Gene

Homeobox A13:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for HOXA13 Gene

No ASD Table

Relevant External Links for HOXA13 Gene

GeneLoc Exon Structure for
HOXA13
ECgene alternative splicing isoforms for
HOXA13

Expression for HOXA13 Gene

mRNA expression in normal human tissues for HOXA13 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for HOXA13 Gene

This gene is overexpressed in Cervix - Ectocervix (11.5), Cervix - Endocervix (11.2), Vagina (7.6), Bladder (7.0), Prostate (4.9), and Colon - Transverse (4.5).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for HOXA13 Gene

SOURCE GeneReport for Unigene cluster for HOXA13 Gene Hs.592172

genes like me logo Genes that share expressions with HOXA13: view

Orthologs for HOXA13 Gene

This gene was present in the common ancestor of animals.

Orthologs for HOXA13 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HOXA13 36
  • 99.31 (n)
  • 99.74 (a)
HOXA13 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia HOXA13 36
  • 89.25 (n)
  • 91.43 (a)
HOXA13 37
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HOXA13 36
  • 93.73 (n)
  • 97.68 (a)
HOXA13 37
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hoxa13 36
  • 91.02 (n)
  • 98.19 (a)
Hoxa13 16
Hoxa13 37
  • 98 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia HOXA13 37
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HOXA13 37
  • 77 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hoxa13 36
  • 90.33 (n)
  • 97.93 (a)
chicken
(Gallus gallus)
Aves HOXA13 37
  • 84 (a)
OneToMany
HOXA13 37
  • 84 (a)
OneToMany
HOXA13 37
  • 84 (a)
OneToMany
LOC100859005 36
  • 81.31 (n)
  • 83.93 (a)
lizard
(Anolis carolinensis)
Reptilia HOXA13 37
  • 46 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia hoxa13-A 36
tropical clawed frog
(Silurana tropicalis)
Amphibia hoxa13 36
  • 72.66 (n)
  • 75.93 (a)
zebrafish
(Danio rerio)
Actinopterygii hoxa13a 37
  • 65 (a)
OneToMany
hoxa13b 36
  • 65.61 (n)
  • 67.37 (a)
hoxa13b 37
  • 70 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Abd-B 37
  • 16 (a)
OneToMany
Species with no ortholog for HOXA13:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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 HOXA13 Gene

ENSEMBL:
Gene Tree for HOXA13 (if available)
TreeFam:
Gene Tree for HOXA13 (if available)

Paralogs for HOXA13 Gene

Selected SIMAP similar genes for HOXA13 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with HOXA13: view

Variants for HOXA13 Gene

Sequence variations from dbSNP and Humsavar for HOXA13 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type MAF
rs757181 -- 27,197,339(+) TCCAT(C/T)ATGTT utr-variant-3-prime
rs2189239 -- 27,197,834(+) AACTT(C/T)CAGAT utr-variant-3-prime
rs2391397 -- 27,196,939(+) AAGGG(G/T)TTTTT utr-variant-3-prime
rs11984297 -- 27,196,874(+) CAGAT(G/T)TTAAT downstream-variant-500B
rs17427924 -- 27,196,847(+) GCATA(C/G)GAAAG downstream-variant-500B

Structural Variations from Database of Genomic Variants (DGV) for HOXA13 Gene

Variant ID Type Subtype PubMed ID
nsv7393 OTHER Inversion 18451855
nsv887856 CNV Loss 21882294
dgv1094n67 CNV Gain 20364138
dgv7231n71 CNV Loss 21882294
dgv7234n71 CNV Loss 21882294
nsv824042 CNV Gain 20364138
dgv7237n71 CNV Loss 21882294
dgv7238n71 CNV Loss 21882294
dgv7239n71 CNV Loss 21882294
nsv5675 CNV Insertion 18451855
nsv887891 CNV Loss 21882294

Relevant External Links for HOXA13 Gene

HapMap Linkage Disequilibrium report
HOXA13
Human Gene Mutation Database (HGMD)
HOXA13

Disorders for HOXA13 Gene

(2) OMIM Diseases for HOXA13 Gene (142959)

UniProtKB/Swiss-Prot

HXA13_HUMAN
  • Hand-foot-genital syndrome (HFG) [MIM:140000]: A disorder characterized by limb and genitourinary anomalies. Clinical features include small feet with unusually short great toes and abnormal thumbs. Females with the disorder have duplication of the genital tract. {ECO:0000269 PubMed:10839976, ECO:0000269 PubMed:12073020}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Guttmacher syndrome (GUTTS) [MIM:176305]: Dominantly inherited combination of distal limb and genital tract abnormalities. It has several features in common with hand-foot-genital syndrome, including hypoplastic first digits and hypospadias. Typical features not seen in hand-foot-genital syndrome include postaxial polydactyly of the hands and uniphalangeal second toes with absent nails. {ECO:0000269 PubMed:11968094}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for HOXA13 Gene

(3) Novoseek inferred disease relationships for HOXA13 Gene

Disease -log(P) Hits PubMed IDs
hand-foot-genital syndrome 97.6 8
hypospadias 63.5 4
cancer 0 1

Relevant External Links for HOXA13

GeneTests
HOXA13
GeneReviews
HOXA13
Genetic Association Database (GAD)
HOXA13
Human Genome Epidemiology (HuGE) Navigator
HOXA13
genes like me logo Genes that share disorders with HOXA13: view

Publications for HOXA13 Gene

  1. Mutation of HOXA13 in hand-foot-genital syndrome. (PMID: 9020844) Mortlock D.P. … Innis J.W. (Nat. Genet. 1997) 3 4 23
  2. Novel HOXA13 mutations and the phenotypic spectrum of hand-foot- genital syndrome. (PMID: 10839976) Goodman F.R. … Scambler P.J. (Am. J. Hum. Genet. 2000) 3 4 23
  3. A HOXA13 allele with a missense mutation in the homeobox and a dinucleotide deletion in the promoter underlies Guttmacher syndrome. (PMID: 11968094) Innis J.W. … Guttmacher A.E. (Hum. Mutat. 2002) 3 4 23
  4. Selection of homeotic proteins for binding to a human DNA replication origin. (PMID: 10835276) de Stanchina E. … Biamonti G. (J. Mol. Biol. 2000) 3 23
  5. Complete mutation analysis panel of the 39 human HOX genes. (PMID: 11857506) Kosaki K. … Matsuo N. (Teratology 2002) 3 23

Products for HOXA13 Gene

Sources for HOXA13 Gene

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