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DIRC1 Gene

protein-coding   GIFtS: 39
GCID: GC02M189562

Disrupted In Renal Carcinoma 1

  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
Disrupted In Renal Carcinoma 11 2
Disrupted In Renal Cancer Protein2 3
Disrupted In Renal Carcinoma Protein 12

External Ids:    HGNC: 157601   Entrez Gene: 1160932   Ensembl: ENSG000001743257   OMIM: 6064235   UniProtKB: Q969H93   

Export aliases for DIRC1 gene to outside databases

Previous GC identifers: GC02M187734 GC02M188281 GC02M189801 GC02M189423 GC02M189306 GC02M181458


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for DIRC1 Gene:
This gene consists of two exons and encodes a 104aa protein. Disruption of this gene by translocation
t(2;3)(q33;q21) is associated with familial clear cell renal cancer. (provided by RefSeq, Sep 2010)

GeneCards Summary for DIRC1 Gene:
DIRC1 (disrupted in renal carcinoma 1) is a protein-coding gene. Diseases associated with DIRC1 include familial renal cell carcinoma, and loeys-dietz syndrome.




(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_000002.12  NC_018913.2  NT_005403.18  
Regulatory elements:
   Regulatory transcription factor binding sites in the DIRC1 gene promoter:
         c-Fos   AML1a   AP-1   JunB   Fra-1   FosB   IRF-1   RelA   JunD   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDIRC1 promoter sequence
   Search Chromatin IP Primers for DIRC1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DIRC1


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

Entrez Gene cytogenetic band: 2q33   Ensembl cytogenetic band:  2q32.2   HGNC cytogenetic band: 2q33

DIRC1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DIRC1 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M189562:  view genomic region     (about GC identifiers)

Start:
189,598,465 bp from pter      End:
189,654,831 bp from pter
Size:
56,367 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, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: DIRC1_HUMAN, Q969H9 (See protein sequence)
Recommended Name: Disrupted in renal carcinoma protein 1  
Size: 104 amino acids; 11440 Da
Secondary accessions: Q08AK1

Explore the universe of human proteins at neXtProt for DIRC1: NX_Q969H9

Explore proteomics data for DIRC1 at MOPED


See DIRC1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_443184.1  
ENSEMBL proteins: 
 ENSP00000307860  

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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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ProtoNet protein and cluster: Q969H9


(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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Animal Models:
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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
cytosol2
extracellular2
nucleus1

(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 DIRC1
Interactions:

    Search GeneGlobe Interaction Network for DIRC1

(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 DIRC1



(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, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for DIRC1 gene: 
NM_052952.2  

Unigene Cluster for DIRC1:

Disrupted in renal carcinoma 1
Hs.470892  [show with all ESTs]
Unigene Representative Sequence: AY039011
1 Ensembl transcript including schematic representation, and UCSC links where relevant:
ENST00000308100(uc002uqi.1)
miRNA
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SwitchGear 3'UTR luciferase reporter plasmidDIRC1 3' UTR sequence
Inhib. RNA
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Additional mRNA sequence: 

AY039011.1 BC125137.1 

1 DOTS entry:

DT.95074204 

16 AceView cDNA sequences:

BX092850 BG192675 AY039011 AI468595 NM_052952 BG202960 BG196276 BG211282 
BG184312 BG219716 BG199854 BG215017 BG212350 BG202959 BG211819 BG217699 

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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DIRC1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: CTTTTATAAA
DIRC1 Expression
About this image

DIRC1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

DIRC1 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.470892

UniProtKB/Swiss-Prot: DIRC1_HUMAN, Q969H9
Tissue specificity: Expressed at low steady-state level in adult placenta, testis, ovary, prostate, fetal kidney,
spleen and skeletal muscle

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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 human and chimp.

Orthologs for DIRC1 gene from 1 species (see representative species )    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
chimpanzee
(Pan troglodytes)
Mammalia DIRC11 disrupted in renal carcinoma 1 99.36(n)
98.08(a)
  100615370  XM_003309360.1  XP_003309408.1 


ENSEMBL Gene Tree for DIRC1 (if available)
TreeFam Gene Tree for DIRC1 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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  --

(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 DIRC1 (see all 1243)    About this table    
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 2 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs58371031,2
C--181464101(+) CATTTG/-GGGAG 1 -- int12Minor allele frequency- -:0.00NA CSA 4
rs1483331841,2
C--181480797(+) GTGGT-/GGGA  
        
GGGAG
1 -- int10--------
rs2010009611,2
C--181488011(+) GAAATG/TGTTCT 1 -- int10--------
rs40323981,2
C--181502351(+) AAAAAAA/-CAGCA 1 -- int11Minor allele frequency- -:0.00NA 2
rs1500443101,2
C--181507914(+) ATTTG-/TTTA  
        
TTTAT
1 -- int10--------
rs116828621,2
C,H--181516114(+) CAGAAA/GTCATT 1 -- us2k11Minor allele frequency- G:0.00NA 2
rs1494278251,2
C--188984628(+) TGTGTA/GTGTAT 1 -- ds50010--------
rs1818780251,2
--188984683(+) ATAAAC/TTTAAG 1 -- ds50010--------
rs1157811221,2
C,F--188984708(+) ATCAAG/ACAATG 1 -- ds50011Minor allele frequency- A:0.03WA 118
rs46672421,2
C,F,A,H--188984768(+) TCTTAA/CTAAAA 1 -- ds500113Minor allele frequency- C:0.27NS EA NA WA CSA 788

HapMap Linkage Disequilibrium report for DIRC1 (189598465 - 189654831 bp)

Structural Variations
     Database of Genomic Variants (DGV) 6 variations for DIRC1:    About this table    
Variant IDTypeSubtypePubMed ID
esv1222504CNV Deletion17803354
esv2721253CNV Deletion23290073
esv1004927CNV Deletion20482838
esv2721254CNV Deletion23290073
nsv215472CNV Loss16902084
dgv4403n71CNV Gain21882294

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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: 606423    OMIM disorders: --

UniProtKB/Swiss-Prot: DIRC1_HUMAN, Q969H9
  • Note=A chromosomal aberration involving DIRC1 is associated with familial clear cell renal carcinoma.
    Translocation t(2;3)(q33;q21)

  • 7 diseases for DIRC1:    
    About MalaCards
    familial renal cell carcinoma    loeys-dietz syndrome    ehlers-danlos syndrome    obesity
    multiple myeloma    myeloma    prostatitis

    1 disease from the University of Copenhagen DISEASES database for DIRC1:
    Loeys-Dietz syndrome

    DIRC1 for disorders           About GeneDecksing


    Export disorders for DIRC1 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 DIRC1 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with DIRC1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The DIRC1 gene at chromosome 2q33 spans a familial RCC-associated t(2;3)(q33;q21) chromosome translocation. (PubMed id 11587072)1, 2, 3, 9 Druck T.... Huebner K. (J. Hum. Genet. 2001)
    2. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)1, 2 Hillier L.W.... Wilson R.K. (Nature 2005)
    3. 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)
    4. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (PubMed id 23251661)1 Comuzzie A.G....Butte N.F. (PLoS ONE 2012)
    5. Hemizygous deletion of COL3A1, COL5A2, and MSTN causes a complex phenotype with aortic dissection: a lesson for and from true haploinsufficiency. (PubMed id 20648054)1 Meienberg J....MA!tyA!s G. (Eur. J. Hum. Genet. 2010)
    6. 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)
    7. Characterization of a familial RCC-associated t(2;3)(q33;q21) chromosome translocation. (PubMed id 11776380)1 Podolski J....Huebner K. (J. Hum. Genet. 2001)

    (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: 116093 HGNC: 15760 AceView: DIRC1 Ensembl:ENSG00000174325 euGenes: HUgn116093
    ECgene: DIRC1 H-InvDB: DIRC1

    (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 DIRC1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for DIRC1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for DIRC1 gene:
    Search GeneIP for patents involving DIRC1

    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
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