DIRC1 Gene
protein-coding GIFtS: 38
GCID: GC02M189562
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disrupted in renal carcinoma 1
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Aliases
for DIRC1 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Disrupted In Renal Carcinoma 11 2 | | Disrupted In Renal Cancer Protein2 3 | | Disrupted In Renal Carcinoma Protein 12 |
Export aliases for DIRC1 gene to outside databasesPrevious GC identifers: GC02M187734 GC02M188281 GC02M189801 GC02M189423 GC02M189306 GC02M181458 |
Summaries
for DIRC1 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for DIRC1:
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)
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Genomic Views
for DIRC1 gene
(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 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000002.11 NC_018913.1 NT_005403.17
Regulatory elements:
 SABiosciences 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
Search SABiosciences Chromatin IP Primers for DIRC1
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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: 2q33DIRC1 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 2 GeneLoc Exon Structure GeneLoc location for GC02M189562: view genomic region
(about GC identifiers)
Start:
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189,598,465 bp from pter |
End:
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189,654,831 bp from pter |
Size:
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56,367 bases |
Orientation:
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minus strand |
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Proteins
for DIRC1 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
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
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
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: Q08AK1Explore the universe of human proteins at neXtProt for DIRC1: NX_Q969H9
DIRC1 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_443184.1
ENSEMBL proteins: ENSP00000307860
Human Recombinant Protein Products:
DIRC1 Antibody Products:
Assay Products for DIRC1: |
Protein
Domains /
Families
for DIRC1 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| ProtoNet protein and cluster: Q969H9 |
Function
for DIRC1 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DIRC1
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DIRC1
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: DIRC1 (NM_052952) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for DIRC1 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DIRC1 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DIRC1 |
|
Pathways & Interactions
for DIRC1 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
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 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for DIRC1
|
Drugs & Compounds
for DIRC1 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for DIRC1
Search CenterWatch for drugs/clinical trials and news about DIRC1
|
Transcripts
for DIRC1 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 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,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
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: AY0390111 Ensembl transcript including schematic representation, and UCSC links where relevant: ENST00000308100(uc002uqi.1)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DIRC1
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DIRC1
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: DIRC1 (NM_052952) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for DIRC1 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DIRC1 |
Additional cDNA sequence: AY039011.1 BC125137.1 1 DOTS entry: DT.95074204 16 AceView cDNA sequences: BX092850 BG192675 NM_052952 BG202960 AI468595 AY039011 BG196276 BG184312 BG211282 BG219716 BG199854 BG215017 BG212350 BG202959 BG217699 BG211819
GeneLoc Exon Structure
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Expression
for DIRC1 gene
(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™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| DIRC1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CTTTTATAAA
About this image
See DIRC1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for DIRC1
SOURCE GeneReport for Unigene cluster: Hs.470892
UniProtKB/Swiss-Prot: DIRC1_HUMAN, Q969H9Tissue specificity: Expressed at low steady-state level in adult placenta, testis, ovary, prostate, fetal kidney,spleen and skeletal muscle
SABiosciences Custom PCR Arrays for DIRC1
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for DIRC1
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse / rat DIRC1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DIRC1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DIRC1 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DIRC1 |
Orthologs
for DIRC1 gene
(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)
About This Section
|
--
ENSEMBL Gene Tree for DIRC1 (if available)
TreeFam Gene Tree for DIRC1 (if available) |
Paralogs
for DIRC1 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| -- |
Genomic Variants
for DIRC1 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, 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) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 2 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
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HapMap Linkage Disequilibrium report for DIRC1 (189598465 - 189654831 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for DIRC1: -- | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing DIRC1 |
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Disorders
/ Diseases
for DIRC1 gene
(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.)
About This Section
|
DIRC1 for disorders About GeneDecksing
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)
5  diseases for DIRC1: About MalaCardsloeys-dietz syndrome renal carcinoma ehlers-danlos syndrome carcinoma
prostatitis
1 disease from the University of Copenhagen DISEASES database for DIRC1:Loeys-Dietz syndrome Export disorders for DIRC1 gene to outside databases
|
Publications
for DIRC1 gene (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)
About This Section
|
PubMed articles for DIRC1 gene integrated from 9 sources:
(articles sorted by number of sources associating them with DIRC1) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- 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. (2001)
- Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)1, 2 Hillier L.W....Wilson R.K. (2005)
- 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. (2004)
- Hemizygous deletion of COL3A1, COL5A2, and MSTN cause s a complex phenotype with aortic dissection: a lesson for and from true haploi nsufficiency. (PubMed id 20648054)1 Meienberg J....MA!tyA!s G. (2010)
- 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. (2002)
- Characterization of a familial RCC-associated t(2;3)( q33;q21) chromosome translocation. (PubMed id 11776380)1 Podolski J....Huebner K. (2001)
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External Searches for DIRC1 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
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Genome Databases showing DIRC1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing DIRC1 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing DIRC1 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
|
About This Section
| 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
|
Products
for DIRC1 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
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| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for DIRC1 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for DIRC1 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for DIRC1 | | | OriGene Protein Over-expression Lysate for DIRC1 | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for DIRC1 | | Browse 3'-UTR reporter clones for miRNA target validation | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DIRC1 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DIRC1 | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for DIRC1 | | OriGene Custom Protein Services for DIRC1 | | | OriGene Custom Immunoassay Development | | |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat DIRC1 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing DIRC1 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DIRC1 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat DIRC1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DIRC1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DIRC1 |
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| | | | Search Tocris compounds for DIRC1 |
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 | | | DIRC1 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DIRC1 |
|  |  |  | | | | Search ThermoFisher Antibodies for DIRC1 |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DIRC1 |
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