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Aliases for DIRC1 Gene

Aliases for DIRC1 Gene

  • Disrupted In Renal Carcinoma 1 2 3 5
  • Disrupted In Renal Cancer Protein 4

External Ids for DIRC1 Gene

Previous GeneCards Identifiers for DIRC1 Gene

  • GC02M187734
  • GC02M188281
  • GC02M189562
  • GC02M189801
  • GC02M189423
  • GC02M189306
  • GC02M181458

Summaries for DIRC1 Gene

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.

Additional gene information for DIRC1 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DIRC1 Gene

Genomics for DIRC1 Gene

Regulatory Elements for DIRC1 Gene

Enhancers for DIRC1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02H188785 1.1 Ensembl ENCODE dbSUPER 12.7 +52.3 52251 4 STAT1 RAD51 JUND POLR2A JUN MYNN FOS DIRC1 COL3A1 LOC105373790
GH02H188289 1.8 FANTOM5 Ensembl ENCODE dbSUPER 4.5 +545.7 545687 8 PKNOX1 ARNT SIN3A FEZF1 TCF12 ZNF766 GLIS2 ZNF143 KLF7 SP3 GULP1 DIRC1 GC02P188299
GH02H188796 0.7 ENCODE dbSUPER 10.4 +41.1 41147 2 JUN FOXP2 DIRC1 LOC105373790
GH02H188811 0.5 ENCODE 12.1 +27.7 27691 0 JUND CEBPB FOS DIRC1 LOC105373790
GH02H188813 0.4 ENCODE 12.1 +25.5 25504 0 JUND DIRC1 LOC105373790
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around DIRC1 on UCSC Golden Path with GeneCards custom track

Genomic Location for DIRC1 Gene

Chromosome:
2
Start:
188,733,738 bp from pter
End:
188,839,420 bp from pter
Size:
105,683 bases
Orientation:
Minus strand

Genomic View for DIRC1 Gene

Genes around DIRC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DIRC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DIRC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DIRC1 Gene

Proteins for DIRC1 Gene

  • Protein details for DIRC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q969H9-DIRC1_HUMAN
    Recommended name:
    Disrupted in renal carcinoma protein 1
    Protein Accession:
    Q969H9
    Secondary Accessions:
    • Q08AK1

    Protein attributes for DIRC1 Gene

    Size:
    104 amino acids
    Molecular mass:
    11440 Da
    Quaternary structure:
    No Data Available

neXtProt entry for DIRC1 Gene

Post-translational modifications for DIRC1 Gene

No Post-translational modifications

Other Protein References for DIRC1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for DIRC1 Gene

Domains & Families for DIRC1 Gene

Gene Families for DIRC1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for DIRC1 Gene

ProtoNet:

Suggested Antigen Peptide Sequences for DIRC1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with DIRC1: view

No data available for UniProtKB/Swiss-Prot for DIRC1 Gene

Function for DIRC1 Gene

Phenotypes From GWAS Catalog for DIRC1 Gene

genes like me logo Genes that share phenotypes with DIRC1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for DIRC1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for DIRC1 Gene

Localization for DIRC1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DIRC1 gene
Compartment Confidence
extracellular 2
cytosol 2
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for DIRC1 Gene

Pathways & Interactions for DIRC1 Gene

SuperPathways for DIRC1 Gene

No Data Available

Interacting Proteins for DIRC1 Gene

Gene Ontology (GO) - Biological Process for DIRC1 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for DIRC1 Gene

Drugs & Compounds for DIRC1 Gene

No Compound Related Data Available

Transcripts for DIRC1 Gene

mRNA/cDNA for DIRC1 Gene

(2) REFSEQ mRNAs :
(2) Additional mRNA sequences :
(16) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for DIRC1 Gene

Disrupted in renal carcinoma 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for DIRC1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for DIRC1 Gene

No ASD Table

Relevant External Links for DIRC1 Gene

GeneLoc Exon Structure for
DIRC1
ECgene alternative splicing isoforms for
DIRC1

Expression for DIRC1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DIRC1 Gene

NURSA nuclear receptor signaling pathways regulating expression of DIRC1 Gene:

DIRC1

SOURCE GeneReport for Unigene cluster for DIRC1 Gene:

Hs.470892

mRNA Expression by UniProt/SwissProt for DIRC1 Gene:

Q969H9-DIRC1_HUMAN
Tissue specificity: Expressed at low steady-state level in adult placenta, testis, ovary, prostate, fetal kidney, spleen and skeletal muscle.
genes like me logo Genes that share expression patterns with DIRC1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for DIRC1 Gene

Orthologs for DIRC1 Gene

This gene was present in the common ancestor of human and chimp.

Orthologs for DIRC1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DIRC1 33 34
  • 99.36 (n)
Species where no ortholog for DIRC1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • cow (Bos Taurus)
  • dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • mouse (Mus musculus)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for DIRC1 Gene

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

Paralogs for DIRC1 Gene

No data available for Paralogs for DIRC1 Gene

Variants for DIRC1 Gene

Sequence variations from dbSNP and Humsavar for DIRC1 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs1000032911 -- 188,789,184(+) GAACT(C/T)TTGAA intron-variant
rs1000045543 -- 188,740,402(+) GATAA(C/T)TCAAT intron-variant
rs1000061395 -- 188,788,796(+) GTCAG(G/T)GACTC intron-variant
rs1000097412 -- 188,763,717(+) TGCTT(A/T)AACCA intron-variant
rs1000124099 -- 188,740,986(+) TTGCT(G/T)AAACT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for DIRC1 Gene

Variant ID Type Subtype PubMed ID
esv1004927 CNV deletion 20482838
esv1222504 CNV deletion 17803354
esv2721253 CNV deletion 23290073
esv2721254 CNV deletion 23290073
nsv1003974 CNV loss 25217958
nsv1008847 CNV gain 25217958
nsv215472 CNV deletion 16902084

Variation tolerance for DIRC1 Gene

Residual Variation Intolerance Score: 74.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.36; 26.87% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DIRC1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DIRC1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DIRC1 Gene

Disorders for DIRC1 Gene

UniProtKB/Swiss-Prot

DIRC1_HUMAN
  • Note=A chromosomal aberration involving DIRC1 is associated with familial clear cell renal carcinoma (PubMed:11587072). Translocation t(2;3)(q33;q21) (PubMed:11587072). {ECO:0000269 PubMed:11587072}.

Relevant External Links for DIRC1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DIRC1

No disorders were found for DIRC1 Gene.

No data available for MalaCards and Genatlas for DIRC1 Gene

Publications for DIRC1 Gene

  1. The DIRC1 gene at chromosome 2q33 spans a familial RCC-associated t(2;3)(q33;q21) chromosome translocation. (PMID: 11587072) Druck T … Huebner K (Journal of human genetics 2001) 2 3 4 22 60
  2. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier LW … Wilson RK (Nature 2005) 3 4 60
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60
  4. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (PMID: 23251661) Comuzzie AG … Butte NF (PloS one 2012) 3 60
  5. Hemizygous deletion of COL3A1, COL5A2, and MSTN causes a complex phenotype with aortic dissection: a lesson for and from true haploinsufficiency. (PMID: 20648054) Meienberg J … Mátyás G (European journal of human genetics : EJHG 2010) 3 60

Products for DIRC1 Gene

Sources for DIRC1 Gene

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