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Aliases for CASC1 Gene

Aliases for CASC1 Gene

  • Cancer Susceptibility Candidate 1 2 3 5
  • Cancer Susceptibility Candidate Gene 1 Protein 3 4
  • Protein Phosphatase 1 Regulatory Subunit 54 3 4
  • Lung Adenoma Susceptibility 1-Like Protein 3 4
  • PPP1R54 3 4
  • LAS1 3 4
  • Protein Phosphatase 1, Regulatory Subunit 54 2
  • Protein CASC1 3

External Ids for CASC1 Gene

Previous GeneCards Identifiers for CASC1 Gene

  • GC12M025152
  • GC12M025261
  • GC12M025031

Summaries for CASC1 Gene

GeneCards Summary for CASC1 Gene

CASC1 (Cancer Susceptibility Candidate 1) is a Protein Coding gene. Diseases associated with CASC1 include Respiratory System Benign Neoplasm. GO annotations related to this gene include microtubule binding and beta-tubulin binding.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CASC1 Gene

Genomics for CASC1 Gene

Regulatory Elements for CASC1 Gene

Enhancers for CASC1 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
GH12F025194 0.2 ENCODE 24 -0.3 -345 2.8 HDGF PKNOX1 ATF1 ARNT ARID4B SIN3A GLI4 DMAP1 ZNF48 ZNF2 CASC1 KRAS ETFRF1 ENSG00000274987
GH12F025150 0.6 Ensembl ENCODE 22.3 +43.2 43238 2.0 JUND JUN BHLHE40 FOS ATF2 TRIM28 CASC1 LRMP KRAS GC12M025108
GH12F025154 1 Ensembl ENCODE 11.2 +39.7 39698 1.4 CTCF ZNF654 CHD1 CEBPB JUNB TRIM22 RAD21 ZBTB40 JUND CEBPA CASC1 LRMP GC12M025108
GH12F025135 0.6 ENCODE 9.3 +59.4 59449 1.3 OSR2 CTCF ZFHX2 RFX1 ZIC2 WT1 EGR2 ETFRF1 LRMP CASC1 KRAS GC12M025108 GC12P025123
GH12F025050 1 FANTOM5 ENCODE 7.9 +141.2 141244 6.6 HDGF TBP PKNOX1 ATF1 TBL1XR1 WRNIP1 SIN3A RAD21 ZBTB40 YY1 LRMP CASC1 ETFRF1 C12orf77 KRAS CENPUP2
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around CASC1 on UCSC Golden Path with GeneCards custom track

Promoters for CASC1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000427833 -238 2001 HDGF ATF1 PKNOX1 ARNT ARID4B SIN3A GLI4 DMAP1 ZNF48 ZNF2

Genomic Location for CASC1 Gene

Chromosome:
12
Start:
25,107,057 bp from pter
End:
25,195,162 bp from pter
Size:
88,106 bases
Orientation:
Minus strand

Genomic View for CASC1 Gene

Genes around CASC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CASC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CASC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CASC1 Gene

Proteins for CASC1 Gene

  • Protein details for CASC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6TDU7-CASC1_HUMAN
    Recommended name:
    Protein CASC1
    Protein Accession:
    Q6TDU7
    Secondary Accessions:
    • B4DNP2
    • F5H6T6
    • Q17RL2
    • Q4G171
    • Q5U5K5
    • Q9NV50

    Protein attributes for CASC1 Gene

    Size:
    716 amino acids
    Molecular mass:
    83160 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA91908.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAA91908.1; Type=Frameshift; Positions=438; Evidence={ECO:0000305};

    Alternative splice isoforms for CASC1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CASC1 Gene

Post-translational modifications for CASC1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CASC1 Gene

Domains & Families for CASC1 Gene

Gene Families for CASC1 Gene

Protein Domains for CASC1 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q6TDU7

UniProtKB/Swiss-Prot:

CASC1_HUMAN :
  • Belongs to the CASC1 family.
Family:
  • Belongs to the CASC1 family.
genes like me logo Genes that share domains with CASC1: view

Function for CASC1 Gene

genes like me logo Genes that share phenotypes with CASC1: view

Animal Model Products

Flow Cytometry Products

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 CASC1 Gene

Localization for CASC1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CASC1 Gene COMPARTMENTS Subcellular localization image for CASC1 gene
Compartment Confidence
nucleus 3

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for CASC1 Gene

Pathways & Interactions for CASC1 Gene

SuperPathways for CASC1 Gene

No Data Available

Interacting Proteins for CASC1 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000379310%0d%0a9606.ENSP00000326031%0d%0a
Selected Interacting proteins: ENSP00000379310 Q6TDU7-CASC1_HUMAN for CASC1 Gene via STRING IID

Gene Ontology (GO) - Biological Process for CASC1 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for CASC1 Gene

Transcripts for CASC1 Gene

Unigene Clusters for CASC1 Gene

Cancer susceptibility candidate 1:
Representative Sequences:

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CASC1 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15
SP1: -
SP2:
SP3: - - - - -

Relevant External Links for CASC1 Gene

GeneLoc Exon Structure for
CASC1
ECgene alternative splicing isoforms for
CASC1

Expression for CASC1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CASC1 Gene

mRNA differential expression in normal tissues according to GTEx for CASC1 Gene

This gene is overexpressed in Testis (x14.0).

Protein differential expression in normal tissues from HIPED for CASC1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (23.4), Frontal cortex (16.5), and Oral epithelium (8.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CASC1 Gene



NURSA nuclear receptor signaling pathways regulating expression of CASC1 Gene:

CASC1

SOURCE GeneReport for Unigene cluster for CASC1 Gene:

Hs.407771
genes like me logo Genes that share expression patterns with CASC1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for CASC1 Gene

Orthologs for CASC1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CASC1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CASC1 34 35
  • 99.35 (n)
dog
(Canis familiaris)
Mammalia CASC1 34 35
  • 88.63 (n)
cow
(Bos Taurus)
Mammalia CASC1 34 35
  • 86.55 (n)
mouse
(Mus musculus)
Mammalia Casc1 34 16 35
  • 70.85 (n)
rat
(Rattus norvegicus)
Mammalia Casc1 34
  • 70.29 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia CASC1 35
  • 53 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CASC1 35
  • 51 (a)
OneToOne
chicken
(Gallus gallus)
Aves LOC101750345 34
  • 62.55 (n)
CASC1 35
  • 48 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CASC1 35
  • 45 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii casc1 34 35
  • 51.56 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 33 (a)
OneToOne
Species where no ortholog for CASC1 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)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • 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)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)

Evolution for CASC1 Gene

ENSEMBL:
Gene Tree for CASC1 (if available)
TreeFam:
Gene Tree for CASC1 (if available)

Paralogs for CASC1 Gene

No data available for Paralogs for CASC1 Gene

Variants for CASC1 Gene

Sequence variations from dbSNP and Humsavar for CASC1 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs10082745 -- 25,150,529(+) aaccc(A/G)ggagg intron-variant
rs10160875 -- 25,157,221(+) TGCAG(A/T)GAGCA intron-variant
rs10437762 -- 25,161,704(+) TCAAA(G/T)GATTT intron-variant, upstream-variant-2KB
rs10505960 -- 25,120,833(+) AACTA(C/T)TATCA intron-variant
rs10557708 -- 25,130,537(+) CTCTC(-/AAAATAAAAT)AAAAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CASC1 Gene

Variant ID Type Subtype PubMed ID
esv2064539 CNV deletion 18987734
esv2471634 CNV deletion 19546169
esv2652823 CNV deletion 19546169
esv2656765 CNV deletion 23128226
esv2678918 CNV deletion 23128226
esv3628889 CNV loss 21293372
esv3628890 CNV loss 21293372
esv3628891 CNV loss 21293372
nsv1125543 CNV tandem duplication 24896259
nsv469169 CNV gain 19166990
nsv478234 CNV novel sequence insertion 20440878
nsv515612 CNV gain 19592680
nsv53768 CNV deletion 16902084
nsv557775 CNV gain 21841781
nsv557796 CNV loss 21841781
nsv557797 CNV loss 21841781
nsv951341 CNV deletion 24416366

Variation tolerance for CASC1 Gene

Residual Variation Intolerance Score: 38.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.31; 90.68% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CASC1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CASC1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CASC1 Gene

Disorders for CASC1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for CASC1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
respiratory system benign neoplasm
- elite association - COSMIC cancer census association via MalaCards
Search CASC1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for CASC1

Genetic Association Database (GAD)
CASC1
Human Genome Epidemiology (HuGE) Navigator
CASC1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CASC1
genes like me logo Genes that share disorders with CASC1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CASC1 Gene

Publications for CASC1 Gene

  1. A V141L polymorphism of the human LRMP gene is associated with survival of lung cancer patients. (PMID: 16410263) Manenti G. … Dragani T.A. (Carcinogenesis 2006) 3 4 46 64
  2. A large-scale candidate gene association study of age at menarche and age at natural menopause. (PMID: 20734064) He C. … Hunter D.J. (Hum. Genet. 2010) 3 46 64
  3. Association of KRAS polymorphisms with risk for lung adenocarcinoma accompanied by atypical adenomatous hyperplasias. (PMID: 18299280) Kohno T. … Yokota J. (Carcinogenesis 2008) 3 46 64
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  5. Positional cloning of the major quantitative trait locus underlying lung tumor susceptibility in mice. (PMID: 14583591) Zhang Z. … You M. (Proc. Natl. Acad. Sci. U.S.A. 2003) 2 4 64

Products for CASC1 Gene

Sources for CASC1 Gene

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