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DMRTC1 Gene

protein-coding   GIFtS: 39
GCID: GC0XM072091

DMRT-Like Family C1

  See related diseases
at  

(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 C11 2
Doublesex- And Mab-3-Related Transcription Factor C12
doublesex-mab-32

External Ids:    HGNC: 139101   Entrez Gene: 639472   Ensembl: ENSG000001591237   OMIM: 3008785   UniProtKB: Q5HYR23   

Export aliases for DMRTC1 gene to outside databases

Previous GC identifers: GC0XU990339 GC0XM069266 GC0XM070306 GC0XP070863 GC0XP071779 GC0XM072008 GC0XP065819


(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 DMRTC1 Gene:
DMRTC1 (DMRT-like family C1) is a protein-coding gene. Diseases associated with DMRTC1 include intrahepatic cholangiocarcinoma, and cholangiocarcinoma. An important paralog of this gene is DMRTC2.


(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:
NC_000023.11  NT_011651.18  NC_018934.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the DMRTC1 gene promoter:
         SRF   GATA-3   POU3F1   SRF (504 AA)   ARP-1   CUTL1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDMRTC1 promoter sequence
   Search Chromatin IP Primers for DMRTC1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DMRTC1


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

Entrez Gene cytogenetic band: Xq13.2   Ensembl cytogenetic band:  Xq13.2   HGNC cytogenetic band: Xq13.2

DMRTC1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DMRTC1 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM072091:  view genomic region     (about GC identifiers)

Start:
72,091,859 bp from pter      End:
72,163,653 bp from pter
Size:
71,795 bases      Orientation:
minus 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: DMRTC_HUMAN, Q5HYR2 (See protein sequence)
Recommended Name: Doublesex- and mab-3-related transcription factor C1  
Size: 192 amino acids; 20139 Da
Caution: Although related to other DMRT proteins, it does not contain a canonical DM DNA-binding domain
Secondary accessions: Q5HYR0 Q5U5K2 Q8N6L3 Q96SD3
Alternative splicing: 2 isoforms:  Q5HYR2-1   Q5HYR2-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for DMRTC1: NX_Q5HYR2

Explore proteomics data for DMRTC1 at MOPED


See DMRTC1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_149042.2  
ENSEMBL proteins: 
 ENSP00000433298   ENSP00000362629   ENSP00000362630   ENSP00000290273  

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(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:
 IPR026606 Dmrtc1
 IPR026607 DMRT/dsx/mab-3

Graphical View of Domain Structure for InterPro Entry Q5HYR2

ProtoNet protein and cluster: Q5HYR2

UniProtKB/Swiss-Prot: DMRTC_HUMAN, Q5HYR2
Similarity: Belongs to the DMRT family


DMRTC1 for domains           About GeneDecksing


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, 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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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     Gene Ontology (GO): 1 molecular function term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0003700sequence-specific DNA binding transcription factor activity ----
     
DMRTC1 for ontologies           About GeneDecksing


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SwitchGear 3'UTR luciferase reporter plasmidDMRTC1 3' UTR sequence
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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 COMPARTMENTS: 

CompartmentConfidence
mitochondrion2
cytosol1
extracellular1
nucleus1
peroxisome1

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

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

DMRTC1 for ontologies           About GeneDecksing


(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 DMRTC1
Interactions:

    Search GeneGlobe Interaction Network for DMRTC1

4 Interacting proteins for DMRTC1 (Q5HYR23) via UniProtKB, MINT, STRING, and/or I2D
InteractantInteraction Details
GeneCardExternal ID(s)
DHRS11Q6UWP23I2D: score=1 
FKBP2P268853I2D: score=1 
PNKPQ96T603I2D: score=1 
YY1AP1Q9H8693I2D: score=1 
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Gene Ontology (GO): 1 biological process term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0006351transcription, DNA-templated ----

DMRTC1 for ontologies           About GeneDecksing



(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 Tocris compounds for DMRTC1 (DMRTC)



(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,
Conferences by KenesGroup, 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, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for DMRTC1 gene: 
NM_033053.2  

Unigene Cluster for DMRTC1:

DMRT-like family C1
Hs.558685  [show with all ESTs]
Unigene Representative Sequence: NM_033053
4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000483816(uc004ebc.3) ENST00000373529 ENST00000373530(uc010nln.3)
ENST00000290273
miRNA
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hsa-miR-34b* hsa-miR-570 hsa-miR-449c
SwitchGear 3'UTR luciferase reporter plasmidDMRTC1 3' UTR sequence
Inhib. RNA
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5 DOTS entries:

DT.100750064  DT.97834977  DT.306314  DT.306315  DT.95297485 

Selected AceView cDNA sequences (see all 42):

AJ291670 BC029799 BM931824 BC047596 NM_033053 AA582811 BE504226 BU679773 
BC025725 AA017453 AA058669 BI769929 CB121638 AA189103 AA984461 BM683954 
AW205069 BM549614 BC041962 AV753283 AA081642 NM_152693 BM980829 BI756447 

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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DMRTC1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: AAGATGTTTT
DMRTC1 Expression
About this image

DMRTC1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

DMRTC1 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.558685

UniProtKB/Swiss-Prot: DMRTC_HUMAN, Q5HYR2
Tissue specificity: Predominantly expressed in kidney, pancreas, ovary and testis. Detected in brain and in many
other tissues

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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DMRTC1

(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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  --

ENSEMBL Gene Tree for DMRTC1 (if available)
TreeFam Gene Tree for DMRTC1 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for DMRTC1 gene
DMRTC1B1 2  DMRTC22  
1 SIMAP similar gene for DMRTC1 using alignment to 3 protein entries:     DMRTC_HUMAN (see all proteins):
DMRTC1B

DMRTC1 for paralogs           About GeneDecksing



(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 DMRTC1 (see all 23)    About this table    
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr X posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs48924701,2
C,F--65821466(-) TCTCCC/TGCTTG 1 -- int1 trp33Minor allele frequency- T:0.50NA WA 4
rs48927911,2
C--65821536(-) TTGCAG/ATATCT 1 -- int12Minor allele frequency- A:0.00NA 4
rs1124481001,2
C--65822066(-) CCCCCA/GTTCCC 1 -- int10--------
rs1124554501,2
C--65822185(+) GCTGTC/TTATTG 1 -- int10--------
rs781925331,2
C--65822459(-) AGACTA/GGAAGC 1 -- int10--------
rs1113970701,2
C--65822648(-) TCCAGA/GGGTGT 1 -- int10--------
rs1835478941,2
C--65822926(+) TTGGGC/TGGGAC 1 -- int10--------
rs1121861051,2
C--65822941(+) AAAAAG/CAGTAG 1 -- int12Minor allele frequency- C:0.00NA 2
rs1899795091,2
C--65822941(+) AAAAAC/GAGTAG 1 -- int10--------
rs1503488001,2
C--72092460(+) CTACTC/GTTTTT 1 -- int10--------

HapMap Linkage Disequilibrium report for DMRTC1 (72091859 - 72163653 bp)

Structural Variations
     Database of Genomic Variants (DGV) 1 variation for DMRTC1:    About this table    
Variant IDTypeSubtypePubMed ID
nsv7450OTHER Inversion18451855

Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing DMRTC1
DNA2.0 Custom Variant and Variant Library Synthesis for DMRTC1

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 300878    OMIM disorders: --

2 diseases for DMRTC1:    
About MalaCards
intrahepatic cholangiocarcinoma    cholangiocarcinoma


DMRTC1 for disorders           About GeneDecksing


Export disorders for DMRTC1 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 DMRTC1 gene integrated from 10 sources:
(articles sorted by number of sources associating them with DMRTC1)
    Utopia: connect your pdf to the dynamic
world of online information

  1. The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (Nature 2005)
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 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. Identification of intrahepatic cholangiocarcinoma related genes by comparison with normal liver tissues using expressed sequence tags. (PubMed id 16712791)1 Wang A.G....Kim N.S. (Biochem. Biophys. Res. Commun. 2006)
  5. 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: 63947 HGNC: 13910 AceView: DMRTC1 Ensembl:ENSG00000159123 euGenes: HUgn63947
ECgene: DMRTC1 H-InvDB: DMRTC1

(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 DMRTC1 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 DMRTC1 gene:
Search GeneIP for patents involving DMRTC1

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, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, 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 inGenious Targeting Laboratory, genOway)
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