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Aliases for CASC1 Gene

Aliases for CASC1 Gene

  • Cancer Susceptibility 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
  • Cancer Susceptibility Candidate 1 2 3
  • 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 1) is a Protein Coding gene. Diseases associated with CASC1 include Respiratory System Benign Neoplasm. Gene Ontology (GO) annotations related to this gene include microtubule binding and beta-tubulin binding.

Additional gene information for CASC1 Gene

No data available for Entrez Gene Summary , CIViC 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

GeneHancer (GH) Regulatory Elements for CASC1 Gene

Promoters and enhancers for CASC1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12I025194 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 574 -0.3 -344 2.8 HDGF PKNOX1 SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 POLR2B E2F8 CASC1 ETFRF1 KRAS RASSF8-AS1 ENSG00000274987 GC12M025195
GH12I025050 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 8 +141.2 141244 6.6 HDGF ATF1 PKNOX1 SMAD1 BATF KLF5 IRF4 ZBTB40 YY1 ZNF766 LRMP CASC1 ETFRF1 C12orf77 KRAS CENPUP2 LOC645177
GH12I025150 Enhancer 0.8 Ensembl ENCODE 22.3 +43.2 43238 2 USF1 ZBTB21 JUN ATF2 JUND ZNF629 CREB1 FOS ATF7 ZBTB17 CASC1 LRMP KRAS GC12M025108
GH12I024943 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 4.3 +247.8 247770 7.7 HDGF PKNOX1 FOXA2 SMAD1 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 BCAT1 ENSG00000255921 LRMP CASC1 DAD1P1
GH12I025154 Enhancer 0.8 Ensembl ENCODE 11.3 +39.7 39697 1.4 CTCF ZNF654 CEBPB TRIM22 JUNB REST BATF ATF2 RAD21 CEBPA CASC1 LRMP GC12M025108
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CASC1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CASC1 gene promoter:

Genomic Locations for CASC1 Gene

Genomic Locations for CASC1 Gene
chr12:25,107,057-25,195,162
(GRCh38/hg38)
Size:
88,106 bases
Orientation:
Minus strand
chr12:25,261,223-25,348,096
(GRCh37/hg19)

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

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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
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 CASC1 gene
Compartment Confidence
nucleus 3

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from the Human Protein Atlas (HPA) 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

Selected Interacting proteins: Q6TDU7-CASC1_HUMAN for CASC1 Gene via IID

Gene Ontology (GO) - Biological Process for CASC1 Gene

None

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

Drugs & Compounds for CASC1 Gene

No Compound Related Data Available

Transcripts for CASC1 Gene

Unigene Clusters for CASC1 Gene

Cancer susceptibility candidate 1:
Representative Sequences:

Clone 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 CGAP 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

Evidence on tissue expression from TISSUES for CASC1 Gene

  • Lung(2)
genes like me logo Genes that share expression patterns with CASC1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33 34
  • 99.35 (n)
dog
(Canis familiaris)
Mammalia CASC1 33 34
  • 88.63 (n)
cow
(Bos Taurus)
Mammalia CASC1 33 34
  • 86.55 (n)
mouse
(Mus musculus)
Mammalia Casc1 33 16 34
  • 70.85 (n)
rat
(Rattus norvegicus)
Mammalia Casc1 33
  • 70.29 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia CASC1 34
  • 53 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CASC1 34
  • 51 (a)
OneToOne
chicken
(Gallus gallus)
Aves LOC101750345 33
  • 62.55 (n)
CASC1 34
  • 48 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CASC1 34
  • 45 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii casc1 33 34
  • 51.56 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 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 Variation AA Info Type
rs1000031379 -- 25,185,579(-) T/C genic_upstream_transcript_variant, intron_variant
rs1000042162 -- 25,166,362(-) C/G genic_upstream_transcript_variant, intron_variant
rs1000079304 -- 25,169,316(-) C/A genic_upstream_transcript_variant, intron_variant
rs1000112525 -- 25,154,611(-) A/C intron_variant
rs1000123106 -- 25,179,032(-) C/A genic_upstream_transcript_variant, 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)

Additional Variant Information for CASC1 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Additional Disease Information for CASC1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 TA (Carcinogenesis 2006) 3 4 44 58
  2. A large-scale candidate gene association study of age at menarche and age at natural menopause. (PMID: 20734064) He C … Hunter DJ (Human genetics 2010) 3 44 58
  3. Association of KRAS polymorphisms with risk for lung adenocarcinoma accompanied by atypical adenomatous hyperplasias. (PMID: 18299280) Kohno T … Yokota J (Carcinogenesis 2008) 3 44 58
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  5. Positional cloning of the major quantitative trait locus underlying lung tumor susceptibility in mice. (PMID: 14583591) Zhang Z … You M (Proceedings of the National Academy of Sciences of the United States of America 2003) 2 4 58

Products for CASC1 Gene

Sources for CASC1 Gene

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