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DMRTA1 Gene

protein-coding   GIFtS: 48
GCID: GC09P022436

DMRT-Like Family A1

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
DMRT-Like Family A11 2
DMO2 3
DMRT42 5
Doublesex- And Mab-3-Related Transcription Factor A12

External Ids:    HGNC: 138261   Entrez Gene: 639512   Ensembl: ENSG000001763997   OMIM: 6148035   UniProtKB: Q5VZB93   

Export aliases for DMRTA1 gene to outside databases

Previous GC identifers: GC09P022774 GC09P022647


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for DMRTA1 Gene:
DMRTA1 (DMRT-like family A1) is a protein-coding gene. GO annotations related to this gene include sequence-specific DNA binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is DMRT2.


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000009.11  NC_018920.2  NT_008413.19  
Regulatory elements:
   Regulatory transcription factor binding sites in the DMRTA1 gene promoter:
         AhR   NF-1   Sp1   AP-4   POU6F1 (c2)   Arnt   C/EBPalpha   CHOP-10   Pax-4a   RSRFC4   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDMRTA1 promoter sequence
   Search Chromatin IP Primers for DMRTA1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DMRTA1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 9p21.3   Ensembl cytogenetic band:  9p21.3   HGNC cytogenetic band: 9p21.3

DMRTA1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DMRTA1 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09P022436:  view genomic region     (about GC identifiers)

Start:
22,446,840 bp from pter      End:
22,455,739 bp from pter
Size:
8,900 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: DMRTA_HUMAN, Q5VZB9 (See protein sequence)
Recommended Name: Doublesex- and mab-3-related transcription factor A1  
Size: 504 amino acids; 53125 Da
Secondary accessions: A1L481 Q8N8Y9 Q9H4B9

Explore the universe of human proteins at neXtProt for DMRTA1: NX_Q5VZB9

Explore proteomics data for DMRTA1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See DMRTA1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_071443.2  
    ENSEMBL proteins: 
     ENSP00000319651  

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    antibodies-online proteins for DMRTA1 (3 products) 

     
    antibodies-online peptides for DMRTA1

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    antibodies-online antibodies for DMRTA1 (28 products) 

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    Cloud-Clone Corp. ELISAs for DMRTA1
    Cloud-Clone Corp. CLIAs for DMRTA1
    Search eBioscience for ELISAs for DMRTA1 
    antibodies-online kits for DMRTA1 (4 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    4 InterPro protein domains:
     IPR009060 UBA-like
     IPR005173 DMA
     IPR026607 DMRT/dsx/mab-3
     IPR001275 DM_DNA-bd

    Graphical View of Domain Structure for InterPro Entry Q5VZB9

    ProtoNet protein and cluster: Q5VZB9

    1 Blocks protein domain: IPB001275 DM DNA-binding

    UniProtKB/Swiss-Prot: DMRTA_HUMAN, Q5VZB9
    Similarity: Belongs to the DMRT family
    Similarity: Contains 1 DM DNA-binding domain


    Find genes that share domains with DMRTA1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003700sequence-specific DNA binding transcription factor activity IEA--
    GO:0005515protein binding ----
    GO:0042803protein homodimerization activity IEA--
    GO:0043565sequence-specific DNA binding IEA--
    GO:0046872metal ion binding IEA--
         
    Find genes that share ontologies with DMRTA1           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for DMRTA1:
     Increased cell number in S and 

         6 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Dmrta1):
     behavior/neurological  endocrine/exocrine gland  no phenotypic analysis  reproductive system  skeleton 
     taste/olfaction 

    Find genes that share phenotypes with DMRTA1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Dmrta1tm1.1Zark for DMRTA1

       genOway: Develop your customized and physiologically relevant rodent model for DMRTA1

    miRNA
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    3 qRT-PCR Assays for microRNAs that regulate DMRTA1:
    hsa-miR-124 hsa-miR-506 hsa-miR-3647-3p
    SwitchGear 3'UTR luciferase reporter plasmidDMRTA1 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DMRTA1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    DMRTA_HUMAN, Q5VZB9: Nucleus (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus3
    cytosol2
    extracellular2
    plasma membrane2
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--

    Find genes that share ontologies with DMRTA1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for DMRTA1
    Interactions:

        Search GeneGlobe Interaction Network for DMRTA1

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    4 Interacting proteins for DMRTA1 (ENSP000003196514) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PGAM5ENSP000003215034STRING: ENSP00000321503
    MED29ENSP000003143434STRING: ENSP00000314343
    ORC5ENSP000002974314STRING: ENSP00000297431
    STAT5BENSP000002933284STRING: ENSP00000293328
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    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001541ovarian follicle development IEA--
    GO:0006351transcription, DNA-templated IEA--
    GO:0006355regulation of transcription, DNA-templated ----
    GO:0060179male mating behavior IEA--

    Find genes that share ontologies with DMRTA1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for DMRTA1 (DMRTA)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for DMRTA1 gene: 
    NM_022160.2  

    Unigene Cluster for DMRTA1:

    DMRT-like family A1
    Hs.371976  [show with all ESTs]
    Unigene Representative Sequence: NM_022160
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000325870(uc003zpp.1)
    miRNA
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    hsa-miR-124 hsa-miR-506 hsa-miR-3647-3p
    SwitchGear 3'UTR luciferase reporter plasmidDMRTA1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat DMRTA1
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DMRTA1
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      QuantiTect SYBR Green Assays in human, mouse, rat DMRTA1
      QuantiFast Probe-based Assays in human, mouse, rat DMRTA1

    Additional mRNA sequence: 

    AJ290954.1 AK096011.1 AK130018.1 BC130435.1 BC130437.1 

    2 DOTS entries:

    DT.75190734  DT.101967104 

    10 AceView cDNA sequences:

    AJ290954 AI017682 NM_022160 AK096011 AK130018 AW771629 BG565407 AW771612 
    BI769349 AI915415 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    DMRTA1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CACGTGCACA
    DMRTA1 Expression
    About this image


    DMRTA1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Neural Ectoderm (Nervous System)
             Neural ectoderm cells
     
     Bone (Muscoskeletal System)
             Zeugopod Growth Plate
     
     Blood (Hematopoietic System)
             Natural Killer Cells Peripheral Blood
     
     Neural Tube (Nervous System)
             Mesencephalic Floor Plate
     
     Brain (Nervous System)
             Adult Oligodendrocyte Precursor Cells Lateral Ventricle
    DMRTA1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    DMRTA1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.371976

    UniProtKB/Swiss-Prot: DMRTA_HUMAN, Q5VZB9
    Tissue specificity: Expressed in liver, kidney, pancreas, prostate and weakly detected in testis and ovary

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for DMRTA1 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Dmrta11 , 5 doublesex and mab-3 related transcription factor like more1, 5 77.78(n)1
    69.53(a)1
      4 (42.15 cM)5
    2425231  NM_175647.31  NP_783578.11 
     896794365 
    lizard
    (Anolis carolinensis)
    Reptilia DMRTA16
    DMRT-like family A1
    43(a)
    1 ↔ 1
    2(61204738-61210068)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia dmrta11 DMRT-like family A1 58.33(n)
    52.06(a)
      779901  NM_001078979.1  NP_001072447.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta dmrt99B6
    doublesex-Mab related 99B
    29(a)
    1 → many
    3R(25518313-25522747)
    worm
    (Caenorhabditis elegans)
    Secernentea dmd-56
    Protein DMD-5 (dmd-5) mRNA, complete cds
    34(a)
    1 → many
    II(5772065-5774220) WBGene00017326


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for DMRTA1 gene
    DMRT22  DMRT32  DMRT12  DMRTA22  DMRTB12  
    2 SIMAP similar genes for DMRTA1 using alignment to 1 protein entry:     DMRTA_HUMAN:
    DMRT2    DMRTA2

    Find genes that share paralogs with DMRTA1           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for DMRTA1 (see all 215)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0363314
    A colorectal cancer sample4--see VAR_0363312 R C mis40--------
    rs1489963151,2
    C,Funtested122451794(+) CTTTTC/TGGCCA 2 R W mis11Minor allele frequency- T:0.00NA 4542
    rs1409790691,2
    --22444955(+) TAACCA/CTATGA 1 -- us2k10--------
    rs1860316321,2
    --22445074(+) AGACAA/GTGTTT 1 -- us2k10--------
    rs1904437211,2
    --22445091(+) CCTCAA/GTTTTT 1 -- us2k10--------
    rs782191711,2
    C,F--22445111(+) ATGCAT/CTATCT 1 -- us2k11Minor allele frequency- C:0.05EA 120
    rs1449386841,2
    --22445119(+) TCTGCA/CTAATT 1 -- us2k10--------
    rs1821605181,2
    C--22445423(+) GCTTTA/CTCGTT 1 -- us2k10--------
    rs1860513251,2
    --22445465(+) AGAACC/TAAAAA 1 -- us2k10--------
    rs752797291,2
    C--22445528(+) TAGGCA/GGGAGT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for DMRTA1 (22446840 - 22455739 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for DMRTA1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv892750CNV Gain21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing DMRTA1
    DNA2.0 Custom Variant and Variant Library Synthesis for DMRTA1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 614803    OMIM disorders: --

    1 disease from the University of Copenhagen DISEASES database for DMRTA1:
    Metabolic acidosis

    Find genes that share disorders with DMRTA1           About GenesLikeMe

    Genetic Association Database (GAD): DMRTA1

    Export disorders for DMRTA1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for DMRTA1 gene, integrated from 10 sources (see all 15):
    (articles sorted by number of sources associating them with DMRTA1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    2. DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)1, 2 Humphray S.J.... Dunham I. (Nature 2004)
    3. Novel paralogy relations among human chromosomes support a link between the phylogeny of doublesex-related genes and the evolution of sex determination. (PubMed id 11863363)1, 2 Ottolenghi C.... McElreavey K. (Genomics 2002)
    4. Quantitative analysis of HSP90-client interactions reveals principles of substrate recognition. (PubMed id 22939624)1 Taipale M....Lindquist S. (Cell 2012)
    5. Toward an understanding of the protein interaction network of the human liver. (PubMed id 21988832)1 Wang J....Yang X. (Mol. Syst. Biol. 2011)
    6. Genomewide association study of movement-related adverse antipsychotic effects. (PubMed id 19875103)4 Aberg K....van den Oord E.J. (Biol. Psychiatry 2010)
    7. Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae. (PubMed id 19197348)4 Lowe J.K....Friedman J.M. (PLoS Genet. 2009)
    8. Framingham Heart Study 100K Project: genome-wide associations for blood pressure and arterial stiffness. (PubMed id 17903302)4 Levy D....Mitchell G.F. (BMC Med. Genet. 2007)
    9. A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study. (PubMed id 17903299)4 Kathiresan S....Cupples L.A. (BMC Med. Genet. 2007)
    10. Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project. (PubMed id 17903300)4 Fox C.S....Atwood L.D. (BMC Med. Genet. 2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 63951 HGNC: 13826 AceView: DMRTA1 Ensembl:ENSG00000176399 euGenes: HUgn63951
    ECgene: DMRTA1 H-InvDB: DMRTA1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for DMRTA1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for DMRTA1 gene:
    Search GeneIP for patents involving DMRTA1

    GeneCards and IP:
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