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Aliases for CASD1 Gene

Aliases for CASD1 Gene

  • CAS1 Domain Containing 1 2 3 5
  • C7orf12 3 4
  • Chromosome 7 Open Reading Frame 12 2
  • O-Acetyltransferase 3
  • WUGSC:H_GS542D18.2 3
  • NBLA04196 3

External Ids for CASD1 Gene

Previous GeneCards Identifiers for CASD1 Gene

  • GC07P093977
  • GC07P094139
  • GC07P088746

Summaries for CASD1 Gene

GeneCards Summary for CASD1 Gene

CASD1 (CAS1 Domain Containing 1) is a Protein Coding gene. Diseases associated with CASD1 include Brachydactyly-Syndactyly Syndrome.

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 CASD1 Gene

Genomics for CASD1 Gene

Regulatory Elements for CASD1 Gene

Enhancers for CASD1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around CASD1 on UCSC Golden Path with GeneCards custom track

Promoters for CASD1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CASD1 on UCSC Golden Path with GeneCards custom track

Genomic Location for CASD1 Gene

Chromosome:
7
Start:
94,509,219 bp from pter
End:
94,631,872 bp from pter
Size:
122,654 bases
Orientation:
Plus strand

Genomic View for CASD1 Gene

Genes around CASD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CASD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CASD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CASD1 Gene

Proteins for CASD1 Gene

  • Protein details for CASD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96PB1-CASD1_HUMAN
    Recommended name:
    CAS1 domain-containing protein 1
    Protein Accession:
    Q96PB1
    Secondary Accessions:
    • B3KW13
    • O14574
    • Q3LIE2
    • Q6P4R4
    • Q9H6T9
    • Q9H770

    Protein attributes for CASD1 Gene

    Size:
    797 amino acids
    Molecular mass:
    91680 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAB69978.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=BAB15028.1; Type=Frameshift; Positions=780; Evidence={ECO:0000305}; Sequence=BAB15163.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB15163.1; Type=Frameshift; Positions=543; Evidence={ECO:0000305};

neXtProt entry for CASD1 Gene

Proteomics data for CASD1 Gene at MOPED

Post-translational modifications for CASD1 Gene

  • Glycosylation at Asn 141, Asn 175, Asn 187, and Asn 241
  • Modification sites at PhosphoSitePlus

Other Protein References for CASD1 Gene

No data available for DME Specific Peptides for CASD1 Gene

Domains & Families for CASD1 Gene

Protein Domains for CASD1 Gene

Suggested Antigen Peptide Sequences for CASD1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96PB1

UniProtKB/Swiss-Prot:

CASD1_HUMAN :
  • Belongs to the PC-esterase family. CASD1 subfamily.
Family:
  • Belongs to the PC-esterase family. CASD1 subfamily.
genes like me logo Genes that share domains with CASD1: view

No data available for Gene Families for CASD1 Gene

Function for CASD1 Gene

genes like me logo Genes that share phenotypes with CASD1: view

Animal Model Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CASD1 Gene

Localization for CASD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CASD1 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CASD1 Gene COMPARTMENTS Subcellular localization image for CASD1 gene
Compartment Confidence
plasma membrane 3
cytosol 2
nucleus 2
endoplasmic reticulum 1

No data available for Gene Ontology (GO) - Cellular Components for CASD1 Gene

Pathways & Interactions for CASD1 Gene

SuperPathways for CASD1 Gene

No Data Available

Interacting Proteins for CASD1 Gene

Gene Ontology (GO) - Biological Process for CASD1 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for CASD1 Gene

Drugs & Compounds for CASD1 Gene

No Compound Related Data Available

Transcripts for CASD1 Gene

Unigene Clusters for CASD1 Gene

CAS1 domain containing 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CASD1 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b · 9c · 9d ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^
SP1: - -
SP2:
SP3:
SP4: - -
SP5: - - - - - -
SP6:
SP7:
SP8:
SP9:

ExUns: 19 ^ 20
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:

Relevant External Links for CASD1 Gene

GeneLoc Exon Structure for
CASD1
ECgene alternative splicing isoforms for
CASD1

Expression for CASD1 Gene

mRNA expression in normal human tissues for CASD1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CASD1 Gene

This gene is overexpressed in Breast (59.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MOPED, and MaxQB for CASD1 Gene



SOURCE GeneReport for Unigene cluster for CASD1 Gene Hs.260041

genes like me logo Genes that share expression patterns with CASD1: view

Primer Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for CASD1 Gene

Orthologs for CASD1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CASD1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CASD1 35
  • 95.32 (n)
  • 97.24 (a)
CASD1 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CASD1 35
  • 94.96 (n)
  • 97.94 (a)
CASD1 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Casd1 35
  • 89.78 (n)
  • 94.97 (a)
Casd1 16
Casd1 36
  • 95 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CASD1 35
  • 99.83 (n)
  • 99.87 (a)
CASD1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC678772 35
  • 84.46 (n)
  • 88.66 (a)
oppossum
(Monodelphis domestica)
Mammalia CASD1 36
  • 44 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CASD1 36
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves CASD1 35
  • 80.05 (n)
  • 84.57 (a)
CASD1 36
  • 86 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CASD1 36
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia casd1 35
  • 69.99 (n)
  • 72.8 (a)
zebrafish
(Danio rerio)
Actinopterygii casd1 35
  • 67.69 (n)
  • 71.92 (a)
casd1 36
  • 67 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001402 35
  • 46.9 (n)
  • 40.57 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG2938 35
  • 47.51 (n)
  • 38.74 (a)
CG2938 36
  • 32 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT2G34410 35
  • 48.18 (n)
  • 36.39 (a)
rice
(Oryza sativa)
Liliopsida Os01g0631100 35
  • 49.67 (n)
  • 36.45 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.13151 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 47 (a)
OneToOne
Species with no ortholog for CASD1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CASD1 Gene

ENSEMBL:
Gene Tree for CASD1 (if available)
TreeFam:
Gene Tree for CASD1 (if available)

Paralogs for CASD1 Gene

(1) SIMAP similar genes for CASD1 Gene using alignment to 4 proteins:

Pseudogenes.org Pseudogenes for CASD1 Gene

genes like me logo Genes that share paralogs with CASD1: view

No data available for Paralogs for CASD1 Gene

Variants for CASD1 Gene

Sequence variations from dbSNP and Humsavar for CASD1 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
VAR_035383 -
rs12672466 -- 94,581,940(+) tttga(A/G)gaacc intron-variant
rs1607257 -- 94,576,158(+) agctc(C/T)attta intron-variant
rs13232545 -- 94,576,412(+) atgcc(C/T)gaagc intron-variant
rs1987104 -- 94,571,840(-) TCATA(C/T)ACTTG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CASD1 Gene

Variant ID Type Subtype PubMed ID
esv2422248 CNV Duplication 17116639

Variation tolerance for CASD1 Gene

Residual Variation Intolerance Score: 39.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.99; 49.74% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for CASD1 Gene

Disorders for CASD1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for CASD1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
brachydactyly-syndactyly syndrome
  • bdsd
- elite association - COSMIC cancer census association via MalaCards
Search CASD1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for CASD1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CASD1
genes like me logo Genes that share disorders with CASD1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CASD1 Gene

Publications for CASD1 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 67
  2. Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus- dystonia syndrome. (PMID: 11528394) Zimprich A. … Gasser T. (Nat. Genet. 2001) 2 3
  3. Cas1p is a membrane protein necessary for the O-acetylation of the Cryptococcus neoformans capsular polysaccharide. (PMID: 11703667) Janbon G. … Dromer F. (Mol. Microbiol. 2001) 2 3
  4. 9-O-Acetylation of sialic acids is catalysed by CASD1 via a covalent acetyl-enzyme intermediate. (PMID: 26169044) Baumann A.M. … MA1hlenhoff M. (Nat Commun 2015) 3
  5. The human Cas1 protein: a sialic acid-specific O-acetyltransferase? (PMID: 20947662) Arming S. … Vlasak R. (Glycobiology 2011) 3

Products for CASD1 Gene

Sources for CASD1 Gene

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