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Aliases for CSAD Gene

Aliases for CSAD Gene

  • Cysteine Sulfinic Acid Decarboxylase 2 3 5
  • P-Selectin Cytoplasmic Tail-Associated Protein 2 3
  • Cysteine-Sulfinate Decarboxylase 3 4
  • Sulfinoalanine Decarboxylase 3 4
  • EC 4.1.1.29 4 63
  • CSD 3 4
  • Cysteine Sulfinic Acid Decarboxylase-Related Protein 3
  • EC 4.1.1 63
  • PCAP 3

External Ids for CSAD Gene

Previous GeneCards Identifiers for CSAD Gene

  • GC12M053710
  • GC12M053465
  • GC12M053268
  • GC12M051837
  • GC12M053551
  • GC12M050594

Summaries for CSAD Gene

Entrez Gene Summary for CSAD Gene

  • This gene encodes a member of the group 2 decarboxylase family. A similar protein in rodents plays a role in multiple biological processes as the rate-limiting enzyme in taurine biosynthesis, catalyzing the decarboxylation of cysteinesulfinate to hypotaurine. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011]

GeneCards Summary for CSAD Gene

CSAD (Cysteine Sulfinic Acid Decarboxylase) is a Protein Coding gene. Diseases associated with CSAD include disuse amblyopia. Among its related pathways are Metabolism and Viral mRNA Translation. GO annotations related to this gene include pyridoxal phosphate binding and carboxy-lyase activity. An important paralog of this gene is DDC.

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

Genomics for CSAD Gene

Regulatory Elements for CSAD Gene

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

ENSRs around CSAD on UCSC Golden Path with GeneCards custom track

Genomic Location for CSAD Gene

Chromosome:
12
Start:
53,157,663 bp from pter
End:
53,180,909 bp from pter
Size:
23,247 bases
Orientation:
Minus strand

Genomic View for CSAD Gene

Genes around CSAD on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for CSAD Gene

Proteins for CSAD Gene

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

    Protein Symbol:
    Q9Y600-CSAD_HUMAN
    Recommended name:
    Cysteine sulfinic acid decarboxylase
    Protein Accession:
    Q9Y600
    Secondary Accessions:
    • A8K0U4
    • Q4QQH9
    • Q9UNJ5
    • Q9Y601

    Protein attributes for CSAD Gene

    Size:
    493 amino acids
    Molecular mass:
    55023 Da
    Cofactor:
    Name=pyridoxal 5-phosphate; Xref=ChEBI:CHEBI:597326;
    Quaternary structure:
    • Homodimer.
    SequenceCaution:
    • Sequence=AAD32546.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAH98278.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAH98342.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAH99717.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAI05919.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for CSAD Gene

    Alternative splice isoforms for CSAD Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CSAD Gene

Proteomics data for CSAD Gene at MOPED

Selected DME Specific Peptides for CSAD Gene

Post-translational modifications for CSAD Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for CSAD Gene

Graphical View of Domain Structure for InterPro Entry

Q9Y600

UniProtKB/Swiss-Prot:

CSAD_HUMAN :
  • Belongs to the group II decarboxylase family.
Family:
  • Belongs to the group II decarboxylase family.
genes like me logo Genes that share domains with CSAD: view

No data available for Gene Families for CSAD Gene

Function for CSAD Gene

Molecular function for CSAD Gene

UniProtKB/Swiss-Prot CatalyticActivity:
3-sulfino-L-alanine = hypotaurine + CO(2).

Enzyme Numbers (IUBMB) for CSAD Gene

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

Animal Model Products

  • Taconic Biosciences Mouse Models for CSAD

No data available for Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for CSAD Gene

Localization for CSAD Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CSAD Gene COMPARTMENTS Subcellular localization image for CSAD gene
Compartment Confidence
endoplasmic reticulum 2
extracellular 2
mitochondrion 2
cytosol 1
lysosome 1
nucleus 1
vacuole 1

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

Pathways & Interactions for CSAD Gene

genes like me logo Genes that share pathways with CSAD: view

Pathways by source for CSAD Gene

UniProtKB/Swiss-Prot Q9Y600-CSAD_HUMAN

  • Pathway: Organosulfur biosynthesis; taurine biosynthesis; hypotaurine from L-cysteine: step 2/2.

Interacting Proteins for CSAD Gene

Gene Ontology (GO) - Biological Process for CSAD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0034641 cellular nitrogen compound metabolic process TAS --
GO:0042412 taurine biosynthetic process IEA --
genes like me logo Genes that share ontologies with CSAD: view

No data available for SIGNOR curated interactions for CSAD Gene

Drugs & Compounds for CSAD Gene

(6) Drugs for CSAD Gene - From: Novoseek, DrugBank, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
L-Cysteine Approved Nutra Target 0
Taurine Experimental Nutra Non-selective, endogenous glycine receptor partial agonist 26
3-Sulfinoalanine Experimental Pharma 0
Pyridoxal Phosphate Nutra Target, Target, cofactor 14

(6) Additional Compounds for CSAD Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Hypotaurine
  • 2-Amino-Ethanesulfinate
  • 2-Amino-Ethanesulfinic acid
  • 2-Aminoethanesulfinate
  • 2-Aminoethanesulfinic acid
  • 2-Aminoethylsulfinate
300-84-5
5-L-Glutamyl-taurine
  • 5-Glutamyl-taurine
carbon dioxide
  • Carbon oxide
  • Carbon-12 dioxide
  • Carbonic acid anhydride
  • Carbonic acid gas
  • Carbonic anhydride
124-38-9
Cysteic acid
  • 2-Amino-3-sulfopropanoate
  • 2-Amino-3-sulfopropanoic acid
  • 2-Amino-3-sulfopropionate
  • 2-Amino-3-sulfopropionic acid
  • 3-Sulfoalanine
498-40-8
genes like me logo Genes that share compounds with CSAD: view

Transcripts for CSAD Gene

Unigene Clusters for CSAD Gene

Cysteine sulfinic acid decarboxylase:
Representative Sequences:

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

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

Relevant External Links for CSAD Gene

GeneLoc Exon Structure for
CSAD
ECgene alternative splicing isoforms for
CSAD

Expression for CSAD Gene

mRNA expression in normal human tissues for CSAD Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CSAD Gene

This gene is overexpressed in Salivary gland (24.2), Adipocyte (13.3), and Spinal cord (12.1).

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



SOURCE GeneReport for Unigene cluster for CSAD Gene Hs.279815

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

Primer Products

In Situ Assay Products

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

Orthologs for CSAD Gene

This gene was present in the common ancestor of animals.

Orthologs for CSAD Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CSAD 35
  • 89.59 (n)
  • 90.67 (a)
CSAD 36
  • 78 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CSAD 35
  • 89.18 (n)
  • 90.47 (a)
CSAD 36
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Csad 35
  • 88.24 (n)
  • 89.66 (a)
Csad 16
Csad 36
  • 90 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CSAD 35
  • 99.62 (n)
  • 99.62 (a)
CSAD 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Csad 35
  • 87.69 (n)
  • 89.66 (a)
oppossum
(Monodelphis domestica)
Mammalia CSAD 36
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CSAD 36
  • 65 (a)
OneToOne
chicken
(Gallus gallus)
Aves CSAD 35
  • 72.88 (n)
  • 72.88 (a)
CSAD 36
  • 72 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CSAD 36
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia csad 35
  • 65.76 (n)
  • 67.99 (a)
zebrafish
(Danio rerio)
Actinopterygii csad 35
  • 65.12 (n)
  • 64.98 (a)
csad 36
  • 58 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9083 35
fruit fly
(Drosophila melanogaster)
Insecta b 37
  • 52 (a)
Gad1 37
  • 47 (a)
b 36
  • 45 (a)
ManyToMany
CG5618 36
  • 46 (a)
ManyToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.8535 35
Species with no ortholog for CSAD:
  • 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)
  • 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)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CSAD Gene

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

Paralogs for CSAD Gene

Paralogs for CSAD Gene

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

Variants for CSAD Gene

Sequence variations from dbSNP and Humsavar for CSAD Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs1006959 -- 53,172,652(+) ACCTA(A/G)GAAGA intron-variant, upstream-variant-2KB
rs1136349 -- 53,177,819(-) ctact(A/G)aaagt intron-variant
rs1136353 -- 53,177,763(-) TTACC(A/G)GGTGG intron-variant
rs1136354 -- 53,177,750(-) gaggc(A/G)ggaga intron-variant
rs1136355 -- 53,177,715(-) GTTGC(A/G)GTGAG intron-variant

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

Variant ID Type Subtype PubMed ID
nsv517066 CNV Loss 19592680
nsv470294 CNV Loss 18288195
nsv832417 CNV Gain 17160897
nsv470295 CNV Gain 18288195
nsv713 CNV Insertion 18451855
nsv469404 CNV Loss 19166990
esv2661808 CNV Deletion 23128226

Variation tolerance for CSAD Gene

Residual Variation Intolerance Score: 57.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.23; 40.19% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CSAD Gene

HapMap Linkage Disequilibrium report
CSAD

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

Disorders for CSAD Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
disuse amblyopia
  • deprivation amblyopia
- elite association - COSMIC cancer census association via MalaCards
Search CSAD in MalaCards View complete list of genes associated with diseases

Relevant External Links for CSAD

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

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

Publications for CSAD Gene

  1. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 2 3 4 67
  2. Drugs, their targets and the nature and number of drug targets. (PMID: 17016423) Imming P. … Meyer A. (Nat Rev Drug Discov 2006) 25 26
  3. How many drug targets are there? (PMID: 17139284) Overington J.P. … Hopkins A.L. (Nat Rev Drug Discov 2006) 25 26
  4. Analysis of antibody reactivity against cysteine sulfinic acid decarboxylase, a pyridoxal phosphate-dependent enzyme, in endocrine autoimmune disease. (PMID: 15070923) SkAPldberg F. … KAompe O. (J. Clin. Endocrinol. Metab. 2004) 23 25
  5. Cloning of murine cysteine sulfinic acid decarboxylase and its mRNA expression in murine tissues. (PMID: 11997111) Park E. … Schuller-Levis G. (Biochim. Biophys. Acta 2002) 3 23

Products for CSAD Gene

Sources for CSAD Gene

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