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Aliases for CASD1 Gene

Aliases for CASD1 Gene

  • CAS1 Domain Containing 1 2 3 5
  • CAS1 Domain-Containing Protein 1 3 4
  • Sialate O-Acetyltransferase 3 4
  • C7orf12 3 4
  • SOAT 3 4
  • N-Acetylneuraminate 9-O-Acetyltransferase 3
  • Chromosome 7 Open Reading Frame 12 2
  • O-Acetyltransferase 3
  • WUGSC:H_GS542D18.2 3
  • EC 2.3.1.45 4
  • 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.

UniProtKB/Swiss-Prot for CASD1 Gene

  • O-acetyltransferase that catalyzes 9-O-acetylation of sialic acids (PubMed:20947662, PubMed:26169044). Sialic acids are sugars at the reducing end of glycoproteins and glycolipids, and are involved in various processes such as cell-cell interactions, host-pathogen recognition (PubMed:20947662, PubMed:26169044).

Additional gene information for CASD1 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CASD1 Gene

Genomics for CASD1 Gene

GeneHancer (GH) Regulatory Elements for CASD1 Gene

Promoters and enhancers for CASD1 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
GH07I094508 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE 569 +3.2 3151 6.8 HDGF PKNOX1 SMAD1 FOXA2 SIN3A FEZF1 DMAP1 YY1 ZNF766 FOS CASD1 GC07M094451 LOC105375404
GH07I094648 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 23.2 +144.6 144623 10.9 HDGF FOXA2 ARID4B SIN3A DMAP1 ZNF2 IRF4 CBX5 ZNF213 ZNF143 SGCE PEG10 CASD1 PPP1R9A LOC105375404
GH07I094942 Enhancer 0.8 ENCODE 44.9 +433.3 433308 0.6 FOXA2 ZNF529 ZFP64 ZBTB40 ZNF213 ZNF302 ZNF354C ZNF138 ZNF202 ZNF680 RPS3AP25 CASD1 SGCE LOC105375403 BET1 COL1A2 DYNC1I1 PPP1R9A PIR34756 GC07M095019
GH07I094561 Enhancer 0.9 ENCODE 26.3 +52.7 52725 1 ELF3 FOXA2 MLX ARID4B RAD21 THRB RARA ETS1 ATF7 CREM CASD1 RNU6-1328P PEG10 SGCE LOC105375404 GC07P094558
GH07I094619 Enhancer 1.3 Ensembl ENCODE dbSUPER 15.5 +111.8 111827 2.8 ELF3 BATF ZNF48 RAD21 RARA ZNF335 ZSCAN5C ZNF143 ATF7 RCOR1 SGCE CASD1 PEG10 RNU6-1328P LOC105375404
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CASD1 on UCSC Golden Path with GeneCards custom track

Genomic Locations for CASD1 Gene

Genomic Locations for CASD1 Gene
chr7:94,509,219-94,631,872
(GRCh38/hg38)
Size:
122,654 bases
Orientation:
Plus strand
chr7:94,138,531-94,186,331
(GRCh37/hg19)

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:
    N-acetylneuraminate 9-O-acetyltransferase
    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

Post-translational modifications for CASD1 Gene

No data available for DME Specific Peptides for CASD1 Gene

Domains & Families for CASD1 Gene

Gene Families for CASD1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

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

Function for CASD1 Gene

Molecular function for CASD1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Acetyl-CoA + N-acetylneuraminate = CoA + N-acetyl-7-O(or 9-O)-acetylneuraminate.
UniProtKB/Swiss-Prot Function:
O-acetyltransferase that catalyzes 9-O-acetylation of sialic acids (PubMed:20947662, PubMed:26169044). Sialic acids are sugars at the reducing end of glycoproteins and glycolipids, and are involved in various processes such as cell-cell interactions, host-pathogen recognition (PubMed:20947662, PubMed:26169044).

Enzyme Numbers (IUBMB) for CASD1 Gene

Phenotypes From GWAS Catalog for CASD1 Gene

Gene Ontology (GO) - Molecular Function for CASD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016740 transferase activity IEA --
GO:0016746 transferase activity, transferring acyl groups IEA --
GO:0047186 N-acetylneuraminate 7-O(or 9-O)-acetyltransferase activity IDA,IEA 26169044
genes like me logo Genes that share ontologies with CASD1: view
genes like me logo Genes that share phenotypes with CASD1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for 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

Golgi apparatus membrane; Multi-pass membrane protein.

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 CASD1 gene
Compartment Confidence
golgi apparatus 5
plasma membrane 3
nucleus 2
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for CASD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005794 Golgi apparatus IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0030173 integral component of Golgi membrane IDA 26169044
genes like me logo Genes that share ontologies with CASD1: view

Pathways & Interactions for CASD1 Gene

SuperPathways for CASD1 Gene

No Data Available

Interacting Proteins for CASD1 Gene

Selected Interacting proteins: Q96PB1-CASD1_HUMAN for CASD1 Gene via IID

Symbol External ID(s) Details
ELAVL1

Gene Ontology (GO) - Biological Process for CASD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process IDA 26169044
genes like me logo Genes that share ontologies with CASD1: view

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:

CRISPR Products

Inhibitory RNA Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for CASD1 Gene



NURSA nuclear receptor signaling pathways regulating expression of CASD1 Gene:

CASD1

SOURCE GeneReport for Unigene cluster for CASD1 Gene:

Hs.260041

mRNA Expression by UniProt/SwissProt for CASD1 Gene:

Q96PB1-CASD1_HUMAN
Tissue specificity: Highly expressed in peripheral B lymphocytes.

Evidence on tissue expression from TISSUES for CASD1 Gene

  • Nervous system(4.6)
  • Intestine(4.2)
genes like me logo Genes that share expression patterns with CASD1: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia CASD1 33 34
  • 99.83 (n)
cow
(Bos Taurus)
Mammalia CASD1 33 34
  • 95.32 (n)
dog
(Canis familiaris)
Mammalia CASD1 33 34
  • 94.96 (n)
mouse
(Mus musculus)
Mammalia Casd1 33 16 34
  • 89.78 (n)
rat
(Rattus norvegicus)
Mammalia LOC678772 33
  • 84.46 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia CASD1 34
  • 80 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CASD1 34
  • 44 (a)
OneToOne
chicken
(Gallus gallus)
Aves CASD1 33 34
  • 80.05 (n)
lizard
(Anolis carolinensis)
Reptilia CASD1 34
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia casd1 33
  • 69.99 (n)
zebrafish
(Danio rerio)
Actinopterygii casd1 33 34
  • 67.69 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG2938 33 34
  • 47.51 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001402 33
  • 46.9 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT2G34410 33
  • 48.18 (n)
rice
(Oryza sativa)
Liliopsida Os01g0631100 33
  • 49.67 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 47 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.13151 33
Species where no ortholog for CASD1 was found in the sources mined by GeneCards:
  • 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 Variation AA Info Type
rs10247562 benign, Myoclonic dystonia 94,597,964(+) T/A/G genic_downstream_transcript_variant, intron_variant
rs112954947 likely-benign, Myoclonic dystonia 94,585,327(+) A/G genic_downstream_transcript_variant, intron_variant
rs11548285 uncertain-significance, Myoclonic dystonia 94,628,302(+) C/T genic_downstream_transcript_variant, intron_variant
rs116105264 benign, not specified, Myoclonic dystonia 94,603,346(+) T/G genic_downstream_transcript_variant, intron_variant
rs121908489 pathogenic, Myoclonic dystonia 94,628,303(+) G/A/T genic_downstream_transcript_variant, intron_variant

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

Variant ID Type Subtype PubMed ID
esv2422248 CNV duplication 17116639
nsv1023193 CNV gain 25217958

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)

Additional Variant Information for CASD1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CASD1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CASD1 Gene

Disorders for CASD1 Gene

Additional Disease Information for CASD1

No disorders were found for CASD1 Gene.

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

Publications for CASD1 Gene

  1. 9-O-Acetylation of sialic acids is catalysed by CASD1 via a covalent acetyl-enzyme intermediate. (PMID: 26169044) Baumann AM … Mühlenhoff M (Nature communications 2015) 3 4 58
  2. The human Cas1 protein: a sialic acid-specific O-acetyltransferase? (PMID: 20947662) Arming S … Vlasak R (Glycobiology 2011) 3 4 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  4. Cas1p is a membrane protein necessary for the O-acetylation of the Cryptococcus neoformans capsular polysaccharide. (PMID: 11703667) Janbon G … Dromer F (Molecular microbiology 2001) 2 3 58
  5. Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome. (PMID: 11528394) Zimprich A … Gasser T (Nature genetics 2001) 2 3 58

Products for CASD1 Gene

Sources for CASD1 Gene

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