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 RefS... See more...

Aliases for CSAD Gene

Aliases for CSAD Gene

  • Cysteine Sulfinic Acid Decarboxylase 2 3 4 5
  • CSD 2 3 4
  • P-Selectin Cytoplasmic Tail-Associated Protein 2 3
  • Cysteine-Sulfinate Decarboxylase 3 4
  • Sulfinoalanine Decarboxylase 3 4
  • Aspartate 1-Decarboxylase 3 4
  • EC 4.1.1.29 4 51
  • PCAP 2 3
  • Cysteine Sulfinic Acid Decarboxylase-Related Protein 3
  • EC 4.1.1.11 4
  • EC 4.1.1 51
  • CSAD 5

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 Stiff-Person Syndrome. Among its related pathways are Sulfur amino acid metabolism and Viral mRNA Translation. Gene Ontology (GO) annotations related to this gene include pyridoxal phosphate binding and carboxy-lyase activity. An important paralog of this gene is GADL1.

UniProtKB/Swiss-Prot Summary for CSAD Gene

  • Catalyzes the decarboxylation of L-aspartate, 3-sulfino-L-alanine (cysteine sulfinic acid), and L-cysteate to beta-alanine, hypotaurine and taurine, respectively. The preferred substrate is 3-sulfino-L-alanine. Does not exhibit any decarboxylation activity toward glutamate.

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CSAD Gene

Genomics for CSAD Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CSAD Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CSAD on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CSAD

Top Transcription factor binding sites by QIAGEN in the CSAD gene promoter:
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • E47
  • HEN1
  • RP58
  • Tal-1beta

Genomic Locations for CSAD Gene

Genomic Locations for CSAD Gene
chr12:53,157,663-53,181,663
(GRCh38/hg38)
Size:
24,001 bases
Orientation:
Minus strand
chr12:53,551,447-53,575,135
(GRCh37/hg19)
Size:
23,689 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=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAH98278.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAH98342.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAH99717.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAI05919.1; Type=Erroneous initiation; Note=Truncated N-terminus.; 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

Selected DME Specific Peptides for CSAD Gene

Q9Y600:
  • GTTVLGAFD
  • PGGSISN
  • HPRFFNQL
  • YLFQQDK
  • RADSVAWNPHK
  • VPFLVSAT
  • RLSKVAPV

Post-translational modifications for CSAD Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for CSAD Gene

Gene Families for CSAD Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for CSAD Gene

Suggested Antigen Peptide Sequences for CSAD Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ16134 fis, clone BRACE2044640, highly similar to Cysteine sulfinic acid decarboxylase (EC4.1.1.29) (B3KV52_HUMAN)
  • cDNA FLJ56717, highly similar to Cysteine sulfinic acid decarboxylase (EC 4.1.1.29) (B4DL84_HUMAN)
  • Sulfinoalanine decarboxylase (CSAD_HUMAN)
  • CSAD protein (Q86V02_HUMAN)

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

Function for CSAD Gene

Molecular function for CSAD Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the decarboxylation of L-aspartate, 3-sulfino-L-alanine (cysteine sulfinic acid), and L-cysteate to beta-alanine, hypotaurine and taurine, respectively. The preferred substrate is 3-sulfino-L-alanine. Does not exhibit any decarboxylation activity toward glutamate.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H(+) + L-aspartate = beta-alanine + CO2; Xref=Rhea:RHEA:19497, ChEBI:CHEBI:15378, ChEBI:CHEBI:16526, ChEBI:CHEBI:29991, ChEBI:CHEBI:57966; EC=4.1.1.11; Evidence={ECO:0000250|UniProtKB:Q9DBE0};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=3-sulfino-L-alanine + H(+) = CO2 + hypotaurine; Xref=Rhea:RHEA:16877, ChEBI:CHEBI:15378, ChEBI:CHEBI:16526, ChEBI:CHEBI:57853, ChEBI:CHEBI:61085; EC=4.1.1.29; Evidence={ECO:0000250|UniProtKB:Q9DBE0};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H(+) + L-cysteate = CO2 + taurine; Xref=Rhea:RHEA:25221, ChEBI:CHEBI:15378, ChEBI:CHEBI:16526, ChEBI:CHEBI:58090, ChEBI:CHEBI:507393; EC=4.1.1.29; Evidence={ECO:0000250|UniProtKB:Q9DBE0};.

Enzyme Numbers (IUBMB) for CSAD Gene

Phenotypes From GWAS Catalog for CSAD Gene

Gene Ontology (GO) - Molecular Function for CSAD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0004068 aspartate 1-decarboxylase activity IEA --
GO:0004782 sulfinoalanine decarboxylase activity ISS --
GO:0016829 lyase activity IEA --
GO:0016831 carboxy-lyase activity IEA --
genes like me logo Genes that share ontologies with CSAD: view
genes like me logo Genes that share phenotypes with CSAD: view

Animal Model Products

  • Taconic Biosciences Mouse Models for CSAD

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CSAD

No data available for Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for CSAD Gene

Localization for CSAD 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 CSAD gene
Compartment Confidence
extracellular 2
mitochondrion 2
nucleus 2
endoplasmic reticulum 2
cytosol 2
plasma membrane 1
cytoskeleton 1
peroxisome 1
endosome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for CSAD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm ISS --
genes like me logo Genes that share ontologies with CSAD: view

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

1 GeneGo (Thomson Reuters) pathway for CSAD Gene
  • Beta-alanine metabolism

UniProtKB/Swiss-Prot Q9Y600-CSAD_HUMAN

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

Gene Ontology (GO) - Biological Process for CSAD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0019449 L-cysteine catabolic process to hypotaurine ISS --
GO:0019452 L-cysteine catabolic process to taurine ISS --
GO:0019752 carboxylic acid metabolic process IEA --
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cysteine Approved Nutra Target 250
Pyridoxal Phosphate Approved, Investigational Nutra Target, cofactor 16
Taurine Approved Nutra Non-selective, endogenous glycine receptor partial agonist 45
Carbon dioxide Approved, Investigational, Vet_approved Pharma 0
3-Sulfinoalanine Experimental Pharma 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
5-L-Glutamyl-taurine
  • 5-Glutamyl-taurine
  • Glutaurine
  • alpha-Glutamyl taurine
  • gamma-L-Glutamyltaurine
  • gamma-L-Glutamyl-taurine
genes like me logo Genes that share compounds with CSAD: view

Transcripts for CSAD Gene

mRNA/cDNA for CSAD Gene

3 REFSEQ mRNAs :
21 NCBI additional mRNA sequence :
20 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CSAD

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

Expression for CSAD Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for CSAD Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CSAD

SOURCE GeneReport for Unigene cluster for CSAD Gene:

Hs.279815

mRNA Expression by UniProt/SwissProt for CSAD Gene:

Q9Y600-CSAD_HUMAN
Tissue specificity: Expressed in liver and brain. Also expressed in both astrocytes and neurons, but lower levels are expressed in astrocytes.

Evidence on tissue expression from TISSUES for CSAD Gene

  • Nervous system(4.5)
  • Liver(2.8)
  • Skin(2.8)
  • Muscle(2.3)
  • Heart(2.3)
  • Kidney(2.3)
  • Blood(2.2)
  • Intestine(2.2)
  • Lung(2)
genes like me logo Genes that share expression patterns with CSAD: 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 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
Chimpanzee
(Pan troglodytes)
Mammalia CSAD 30 31
  • 99.62 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CSAD 30 31
  • 89.59 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CSAD 30 31
  • 89.18 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Csad 30 17 31
  • 88.24 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Csad 30
  • 87.69 (n)
Oppossum
(Monodelphis domestica)
Mammalia CSAD 31
  • 83 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia CSAD 31
  • 65 (a)
OneToOne
Chicken
(Gallus gallus)
Aves CSAD 30 31
  • 72.88 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CSAD 31
  • 66 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia csad 30
  • 65.76 (n)
Zebrafish
(Danio rerio)
Actinopterygii csad 30 31
  • 65.12 (n)
OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9083 30
Fruit Fly
(Drosophila melanogaster)
Insecta Gad1 32
  • 47 (a)
CG5618 31
  • 46 (a)
ManyToMany
b 31 32
  • 45 (a)
ManyToMany
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.8535 30
Species where no ortholog for CSAD was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Squirt (Ciona savignyi)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for CSAD: view image

Paralogs for CSAD Gene

Paralogs for CSAD Gene

(7) SIMAP similar genes for CSAD Gene using alignment to 11 proteins:

  • CSAD_HUMAN
  • B4DL84_HUMAN
  • C9JTU8_HUMAN
  • E9PFW9_HUMAN
  • F8VV11_HUMAN
  • F8WCW3_HUMAN
  • H3BQ59_HUMAN
  • H3BTP4_HUMAN
  • J3KPG9_HUMAN
  • Q86V02_HUMAN
  • Q9Y602_HUMAN
genes like me logo Genes that share paralogs with CSAD: view

Variants for CSAD Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CSAD Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
778639 Benign: not provided 53,170,473(-) C/T SYNONYMOUS_VARIANT
778640 Benign: not provided 53,172,381(-) G/A SYNONYMOUS_VARIANT
791052 Benign: not provided 53,172,625(-) C/T SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for CSAD Gene

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

Variant ID Type Subtype PubMed ID
dgv2644n54 CNV loss 21841781
dgv2645n54 CNV loss 21841781
esv2661808 CNV deletion 23128226
esv3629539 CNV loss 21293372
nsv469404 CNV loss 19166990
nsv470294 CNV loss 18288195
nsv470295 CNV gain 18288195
nsv517066 CNV loss 19592680
nsv558994 CNV loss 21841781
nsv713 CNV insertion 18451855
nsv832417 CNV gain 17160897

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)

Additional Variant Information for CSAD Gene

Human Gene Mutation Database (HGMD)
CSAD
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CSAD

SNP Genotyping and Copy Number Assay Products

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 and GeneCards

Disorder Aliases PubMed IDs
stiff-person syndrome
  • sps
- elite association - COSMIC cancer census association via MalaCards
Search CSAD in MalaCards View complete list of genes associated with diseases
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 DS … MGC Project Team (Genome research 2004) 2 3 4
  2. Mammalian CSAD and GADL1 have distinct biochemical properties and patterns of brain expression. (PMID: 26327310) Winge I … Haavik J (Neurochemistry international 2015) 3 4
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  4. Cloning of murine cysteine sulfinic acid decarboxylase and its mRNA expression in murine tissues. (PMID: 11997111) Park E … Schuller-Levis G (Biochimica et biophysica acta 2002) 3 23
  5. Phospho-tyrosine dependent protein-protein interaction network. (PMID: 25814554) Grossmann A … Stelzl U (Molecular systems biology 2015) 3

Products for CSAD Gene

Sources for CSAD Gene