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DMRTB1 Gene

protein-coding   GIFtS: 46
GCID: GC01P053925

DMRT-Like Family B With Proline-Rich C-Terminal, 1

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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 B With Proline-Rich C-Terminal, 11 2
Doublesex- And Mab-3-Related Transcription Factor B12

External Ids:    HGNC: 139131   Entrez Gene: 639482   Ensembl: ENSG000001430067   OMIM: 6148055   UniProtKB: Q96MA13   

Export aliases for DMRTB1 gene to outside databases

Previous GC identifers: GC01P053572 GC01P052814 GC01P053283 GC01P053294 GC01P053637 GC01P053697 GC01P052040


(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 DMRTB1 Gene:
DMRTB1 (DMRT-like family B with proline-rich C-terminal, 1) 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_000001.10  NC_018912.2  NT_032977.10  
Regulatory elements:
   Regulatory transcription factor binding sites in the DMRTB1 gene promoter:
         Nkx3-1   Nkx3-1 v2   Nkx3-1 v4   p53   HNF-1   Chx10   Nkx3-1 v3   Nkx3-1 v1   Pax-4a   HNF-1A   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDMRTB1 promoter sequence
   Search Chromatin IP Primers for DMRTB1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DMRTB1


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

Entrez Gene cytogenetic band: 1p32.3   Ensembl cytogenetic band:  1p32.3   HGNC cytogenetic band: 1p32

DMRTB1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DMRTB1 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P053925:  view genomic region     (about GC identifiers)

Start:
53,925,072 bp from pter      End:
53,933,161 bp from pter
Size:
8,090 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: DMRTB_HUMAN, Q96MA1 (See protein sequence)
Recommended Name: Doublesex- and mab-3-related transcription factor B1  
Size: 342 amino acids; 36205 Da
Secondary accessions: Q96SD2

Explore the universe of human proteins at neXtProt for DMRTB1: NX_Q96MA1

Explore proteomics data for DMRTB1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See DMRTB1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_149056.1  
    ENSEMBL proteins: 
     ENSP00000360500  

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    antibodies-online proteins for DMRTB1 (4 products) 

     
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    antibodies-online antibodies for DMRTB1 (9 products) 

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    Cloud-Clone Corp. CLIAs for DMRTB1
    Search eBioscience for ELISAs for DMRTB1 
    antibodies-online kits for DMRTB1 (4 products) 


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

    Graphical View of Domain Structure for InterPro Entry Q96MA1

    ProtoNet protein and cluster: Q96MA1

    1 Blocks protein domain: IPB001275 DM DNA-binding

    UniProtKB/Swiss-Prot: DMRTB_HUMAN, Q96MA1
    Similarity: Belongs to the DMRT family
    Similarity: Contains 1 DM DNA-binding domain


    Find genes that share domains with DMRTB1           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): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003700sequence-specific DNA binding transcription factor activity IEA--
    GO:0005515protein binding ----
    GO:0043565sequence-specific DNA binding IEA--
    GO:0046872metal ion binding IEA--
         
    Find genes that share ontologies with DMRTB1           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for DMRTB1:
     Decreased homologous recombina 

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for DMRTB1

    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate DMRTB1 (see all 15):
    hsa-miR-3671 hsa-miR-548am hsa-miR-548d-3p hsa-miR-1298 hsa-miR-767-5p hsa-miR-551b* hsa-miR-664 hsa-miR-3667-3p
    SwitchGear 3'UTR luciferase reporter plasmidDMRTB1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat DMRTB1

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    (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
    DMRTB_HUMAN, Q96MA1: Nucleus (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus3
    cytosol2
    mitochondrion2

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

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

    Find genes that share ontologies with DMRTB1           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 DMRTB1
    Interactions:

        Search GeneGlobe Interaction Network for DMRTB1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 13)

    Selected Interacting proteins for DMRTB1 (Q96MA12, 3 ENSP000003605004) via UniProtKB, MINT, STRING, and/or I2D (see all 29)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RBFOX1Q9NWB12, 3, ENSP000003091174MINT-2875657 I2D: score=3 STRING: ENSP00000309117
    VASPP505522, 3, ENSP000002459324MINT-66826 I2D: score=5 STRING: ENSP00000245932
    NIF3L1Q9GZT82, 3, ENSP000003863944MINT-67776 I2D: score=5 STRING: ENSP00000386394
    EYA2O001672, 3, ENSP000003336404MINT-66157 I2D: score=3 STRING: ENSP00000333640
    RBFOX2O432512, 3, ENSP000004130354MINT-67864 I2D: score=4 STRING: ENSP00000413035
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    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-templated IEA--
    GO:0006355regulation of transcription, DNA-templated ----

    Find genes that share ontologies with DMRTB1           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 DMRTB1 (DMRTB)



    (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 DMRTB1 gene: 
    NM_033067.1  

    Unigene Cluster for DMRTB1:

    DMRT-like family B with proline-rich C-terminal, 1
    Hs.131654  [show with all ESTs]
    Unigene Representative Sequence: AK057273
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000371445(uc001cvq.1) ENST00000463126
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate DMRTB1 (see all 15):
    hsa-miR-3671 hsa-miR-548am hsa-miR-548d-3p hsa-miR-1298 hsa-miR-767-5p hsa-miR-551b* hsa-miR-664 hsa-miR-3667-3p
    SwitchGear 3'UTR luciferase reporter plasmidDMRTB1 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector: DMRTB1 (NM_033067)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DMRTB1
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      QuantiFast Probe-based Assays in human, mouse, rat DMRTB1

    Additional mRNA sequence: 

    AJ291671.1 AK057273.1 AK302085.1 BC029566.1 

    3 DOTS entries:

    DT.205919  DT.121378749  DT.95158383 

    24 AceView cDNA sequences:

    CR595262 BX115913 AJ291671 AI198850 BX339185 BC029566 AK057273 AI027193 
    BG717887 NM_033067 BI831691 AA921760 AI025780 BG772909 AI269604 BG771525 
    BI826473 BI462321 BF979817 BG718134 BI462304 BF979281 AW172417 BX327965 

    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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    DMRTB1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AACAGTTTCT
    DMRTB1 Expression
    About this image


    DMRTB1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Ovary (Reproductive System)
             Secondary Oocyte Antral Follicle
     
     Gonad
             Secondary Oocyte Antral Follicle
     
     Testis (Reproductive System)
    DMRTB1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    DMRTB1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.131654

    UniProtKB/Swiss-Prot: DMRTB_HUMAN, Q96MA1
    Tissue specificity: Testis

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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 DMRTB1 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Dmrtb11 , 5 DMRT-like family B with proline-rich C-terminal, 11, 5 68.83(n)1
    55.56(a)1
      4 (50.18 cM)5
    562961  NM_019872.11  NP_063925.11 
     1076762905 
    chicken
    (Gallus gallus)
    Aves DMRTB16
    Gallus gallus DMRT-like family B with proline-rich...
    40(a)
    1 ↔ 1
    8(23769011-23778972)
    lizard
    (Anolis carolinensis)
    Reptilia DMRTB16
    DMRT-like family B with proline-rich C-terminal, 1...
    34(a)
    1 ↔ 1
    4(115480233-115487163)
    zebrafish
    (Danio rerio)
    Actinopterygii dmrt2b6
    doublesex and mab-3 related transcription factor 2...
    16(a)
    many ↔ many
    6(35599989-35606659) ENSDARG00000070013
    fruit fly
    (Drosophila melanogaster)
    Insecta dsx6
    doublesex
    14(a)
    1 → many
    3R(3750045-3793130)
    worm
    (Caenorhabditis elegans)
    Secernentea mab-36
    Protein MAB-3, isoform a (mab-3) mRNA, complete cd...
    15(a)
    many ↔ many
    II(9733422-9738011) WBGene00003100


    ENSEMBL Gene Tree for DMRTB1 (if available)
    TreeFam Gene Tree for DMRTB1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for DMRTB1 gene
    DMRT22  DMRT32  DMRT12  DMRTA22  DMRTA12  

    Find genes that share paralogs with DMRTB1           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 DMRTB1 (see all 269)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1158115311,2
    C,F--53923131(+) TCCACC/TTGCCT 1 -- us2k11Minor allele frequency- T:0.07WA 118
    rs1163065381,2
    F--53923184(+) CCCGGC/TCCACT 1 -- us2k11Minor allele frequency- T:0.05WA 118
    rs1921531961,2
    --53923219(+) TAAGTA/GAGAGG 1 -- us2k10--------
    rs1851054591,2
    --53923413(+) CCCCAA/GTGGTA 1 -- us2k10--------
    rs1500013191,2
    C--53923636(+) TTTTCA/GGCTTG 1 -- us2k10--------
    rs1900132221,2
    --53923675(+) ACAAAG/TAAGGG 1 -- us2k10--------
    rs1451947741,2
    --53923723(+) GGTGGA/GGGGGA 1 -- us2k10--------
    rs1811392561,2
    --53923762(+) AGAGAC/GAGAGA 1 -- us2k10--------
    rs1848550901,2
    --53923826(+) ATTAAC/TGGCCG 1 -- us2k10--------
    rs12886241,2
    C--53923833(+) GCCGGA/GCGCGG 1 -- us2k13Minor allele frequency- G:0.35WA NA 124

    HapMap Linkage Disequilibrium report for DMRTB1 (53925072 - 53933161 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for DMRTB1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv877CNV Insertion18451855
    nsv509269CNV Insertion20534489
    dgv227n71CNV Loss21882294
    nsv829882CNV Loss17160897
    nsv871730CNV Loss21882294
    nsv428443CNV Gain18775914
    dgv52e1CNV Complex17122850

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    (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: 614805    OMIM disorders: --


    Find genes that share disorders with DMRTB1           About GenesLikeMe


    Export disorders for DMRTB1 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 DMRTB1 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with DMRTB1)
        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. 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)
    3. Genome-wide association of lipid-lowering response to statins in combined study populations. (PubMed id 20339536)1 Barber M.J....Krauss R.M. (PLoS ONE 2010)
    4. An empirical framework for binary interactome mapping. (PubMed id 19060904)1 Venkatesan K....Vidal M. (Nat. Methods 2009)
    5. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)2 Gregory S.G.... Bentley D.R. (Nature 2006)
    6. A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration. (PubMed id 16713569)1 Lim J.... Zoghbi H.Y. (Cell 2006)
    7. Towards a proteome-scale map of the human protein-protein interaction network. (PubMed id 16189514)1 Rual J.F....Vidal M. (Nature 2005)
    8. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)

    (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: 63948 HGNC: 13913 AceView: DMRTB1 Ensembl:ENSG00000143006 euGenes: HUgn63948
    ECgene: DMRTB1 H-InvDB: DMRTB1

    (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)
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    NameDescription
    PharmGKB entry for DMRTB1 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 DMRTB1 gene:
    Search GeneIP for patents involving DMRTB1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from genOway)
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