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Aliases for DMRTA1 Gene

Aliases for DMRTA1 Gene

  • DMRT Like Family A1 2 3 5
  • DMO 3 4
  • Doublesex- And Mab-3-Related Transcription Factor A1 3
  • DMRT-Like Family A1 2
  • DMRT4 3

External Ids for DMRTA1 Gene

Previous GeneCards Identifiers for DMRTA1 Gene

  • GC09P022774
  • GC09P022647

Summaries for DMRTA1 Gene

GeneCards Summary for DMRTA1 Gene

DMRTA1 (DMRT Like Family A1) is a Protein Coding gene. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and sequence-specific DNA binding. An important paralog of this gene is DMRTA2.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DMRTA1 Gene

Genomics for DMRTA1 Gene

Regulatory Elements for DMRTA1 Gene

Enhancers for DMRTA1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH09F022446 0.2 ENCODE 43.1 +0.4 434 2.2 SIN3A RAD21 YY1 ZNF335 ZNF121 GLIS2 EGR2 ZNF263 SP3 NFYA DMRTA1 PIR58903
GH09F022416 0.4 ENCODE 5.8 -30.1 -30132 0.5 GATA3 PKNOX1 POLR2A SMARCA4 DMRTA1 GC09M022287
GH09F022256 0.2 ENCODE 5.5 -189.4 -189353 2.9 DMRTA1 ENSG00000236921 GC09M022287
GH09F022237 1.3 FANTOM5 Ensembl ENCODE 5 -207.2 -207218 4.8 TBP PKNOX1 TBL1XR1 INSM2 KLF17 FEZF1 BMI1 ZNF2 RAD21 ZNF335 UBA52P6 CDKN2B DMRTA1 ENSG00000236921 GC09M022287
GH09F022165 0.2 Ensembl 4.3 -281.4 -281441 0.8 SCRT1 BHLHE40 SCRT2 HLF FEZF1 DMRTA1 GC09M022195 ENSG00000277653
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around DMRTA1 on UCSC Golden Path with GeneCards custom track

Promoters for DMRTA1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001301542 860 2999 SIN3A THRB RAD21 YY1 ZNF335 ZNF121 GLIS2 EGR2 ZNF263 SP3

Genomic Location for DMRTA1 Gene

Chromosome:
9
Start:
22,446,841 bp from pter
End:
22,455,740 bp from pter
Size:
8,900 bases
Orientation:
Plus strand

Genomic View for DMRTA1 Gene

Genes around DMRTA1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DMRTA1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DMRTA1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DMRTA1 Gene

Proteins for DMRTA1 Gene

  • Protein details for DMRTA1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5VZB9-DMRTA_HUMAN
    Recommended name:
    Doublesex- and mab-3-related transcription factor A1
    Protein Accession:
    Q5VZB9
    Secondary Accessions:
    • A1L481
    • Q8N8Y9
    • Q9H4B9

    Protein attributes for DMRTA1 Gene

    Size:
    504 amino acids
    Molecular mass:
    53125 Da
    Quaternary structure:
    No Data Available

neXtProt entry for DMRTA1 Gene

Post-translational modifications for DMRTA1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DMRTA1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for DMRTA1 Gene

Domains & Families for DMRTA1 Gene

Protein Domains for DMRTA1 Gene

Suggested Antigen Peptide Sequences for DMRTA1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q5VZB9

UniProtKB/Swiss-Prot:

DMRTA_HUMAN :
  • Contains 1 DM DNA-binding domain.
  • Belongs to the DMRT family.
Domain:
  • Contains 1 DM DNA-binding domain.
Family:
  • Belongs to the DMRT family.
genes like me logo Genes that share domains with DMRTA1: view

No data available for Gene Families for DMRTA1 Gene

Function for DMRTA1 Gene

Gene Ontology (GO) - Molecular Function for DMRTA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000987 core promoter proximal region sequence-specific DNA binding IBA --
GO:0003677 DNA binding IEA --
GO:0003700 transcription factor activity, sequence-specific DNA binding IBA --
GO:0042803 protein homodimerization activity IEA,IBA --
GO:0043565 sequence-specific DNA binding IEA --
genes like me logo Genes that share ontologies with DMRTA1: view
genes like me logo Genes that share phenotypes with DMRTA1: view

Animal Models for DMRTA1 Gene

MGI Knock Outs for DMRTA1:

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for DMRTA1 Gene

Localization for DMRTA1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DMRTA1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DMRTA1 Gene COMPARTMENTS Subcellular localization image for DMRTA1 gene
Compartment Confidence
nucleus 4
cytosol 2
extracellular 2
plasma membrane 2
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for DMRTA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA --
genes like me logo Genes that share ontologies with DMRTA1: view

Pathways & Interactions for DMRTA1 Gene

SuperPathways for DMRTA1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for DMRTA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001541 ovarian follicle development IEA --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0007548 sex differentiation IBA --
GO:0060179 male mating behavior IEA --
genes like me logo Genes that share ontologies with DMRTA1: view

No data available for Pathways by source and SIGNOR curated interactions for DMRTA1 Gene

Transcripts for DMRTA1 Gene

mRNA/cDNA for DMRTA1 Gene

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

Unigene Clusters for DMRTA1 Gene

DMRT-like family A1:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for DMRTA1 Gene

No ASD Table

Relevant External Links for DMRTA1 Gene

GeneLoc Exon Structure for
DMRTA1
ECgene alternative splicing isoforms for
DMRTA1

Expression for DMRTA1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DMRTA1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DMRTA1 Gene

This gene is overexpressed in Liver (x12.4).

Protein differential expression in normal tissues from HIPED for DMRTA1 Gene

This gene is overexpressed in Fetal Brain (52.0) and Fetal gut (17.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for DMRTA1 Gene



Protein tissue co-expression partners for DMRTA1 Gene

NURSA nuclear receptor signaling pathways regulating expression of DMRTA1 Gene:

DMRTA1

SOURCE GeneReport for Unigene cluster for DMRTA1 Gene:

Hs.371976

mRNA Expression by UniProt/SwissProt for DMRTA1 Gene:

Q5VZB9-DMRTA_HUMAN
Tissue specificity: Expressed in liver, kidney, pancreas, prostate and weakly detected in testis and ovary.
genes like me logo Genes that share expression patterns with DMRTA1: view

Primer Products

Orthologs for DMRTA1 Gene

This gene was present in the common ancestor of animals.

Orthologs for DMRTA1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DMRTA1 34 35
  • 99.01 (n)
cow
(Bos Taurus)
Mammalia DMRTA1 34 35
  • 83.37 (n)
dog
(Canis familiaris)
Mammalia DMRTA1 34 35
  • 80.71 (n)
rat
(Rattus norvegicus)
Mammalia Dmrta1 34
  • 77.89 (n)
mouse
(Mus musculus)
Mammalia Dmrta1 34 16 35
  • 77.78 (n)
oppossum
(Monodelphis domestica)
Mammalia DMRTA1 35
  • 66 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DMRTA1 35
  • 64 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DMRTA1 35
  • 43 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dmrta1 34
  • 58.33 (n)
fruit fly
(Drosophila melanogaster)
Insecta dmrt99B 35
  • 29 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea dmd-5 35
  • 34 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 26 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1420 34
Species where no ortholog for DMRTA1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)
  • chicken (Gallus gallus)
  • 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 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)
  • zebrafish (Danio rerio)

Evolution for DMRTA1 Gene

ENSEMBL:
Gene Tree for DMRTA1 (if available)
TreeFam:
Gene Tree for DMRTA1 (if available)

Paralogs for DMRTA1 Gene

Paralogs for DMRTA1 Gene

(2) SIMAP similar genes for DMRTA1 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with DMRTA1: view

Variants for DMRTA1 Gene

Sequence variations from dbSNP and Humsavar for DMRTA1 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs372873186 A colorectal cancer sample 22,451,420(+) ACAGG(C/G/T)GCAGC reference, missense
rs10677783 -- 22,450,366(+) GTACA(-/TG)TTTCA intron-variant
rs10965355 -- 22,450,288(+) GGACA(C/G)TTTAT intron-variant
rs111465355 -- 22,447,337(+) CGGCT(A/G)CCCGC reference, missense
rs111683201 -- 22,451,908(+) AATCC(A/G)TAATG reference, synonymous-codon

Structural Variations from Database of Genomic Variants (DGV) for DMRTA1 Gene

Variant ID Type Subtype PubMed ID
esv2761508 CNV gain 21179565
esv3619978 CNV gain 21293372
nsv1016983 CNV gain 25217958
nsv1031822 CNV loss 25217958

Variation tolerance for DMRTA1 Gene

Residual Variation Intolerance Score: 63.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.75; 46.87% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DMRTA1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DMRTA1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DMRTA1 Gene

Disorders for DMRTA1 Gene

Relevant External Links for DMRTA1

Genetic Association Database (GAD)
DMRTA1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DMRTA1

No disorders were found for DMRTA1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for DMRTA1 Gene

Publications for DMRTA1 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  2. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray S.J. … Dunham I. (Nature 2004) 3 4 64
  3. Novel paralogy relations among human chromosomes support a link between the phylogeny of doublesex-related genes and the evolution of sex determination. (PMID: 11863363) Ottolenghi C. … McElreavey K. (Genomics 2002) 3 4 64
  4. A genome-wide association study reveals 2 new susceptibility loci for atopic dermatitis. (PMID: 25865352) Schaarschmidt H. … Weidinger S. (J. Allergy Clin. Immunol. 2015) 3 64
  5. Genome-wide association study of ancestry-specific TB risk in the South African Coloured population. (PMID: 24057671) Chimusa E.R. … Hoal E.G. (Hum. Mol. Genet. 2014) 3 64

Products for DMRTA1 Gene

Sources for DMRTA1 Gene

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