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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 61
  • CSD 3 4
  • Cysteine Sulfinic Acid Decarboxylase-Related Protein 3
  • EC 4.1.1 61
  • 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 Beta-alanine metabolism (TR) 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 GADL1.

No data available for CIViC summary , 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

Enhancers for CSAD Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12G053078 1.4 ENCODE dbSUPER 10.6 +100.9 100923 3.0 HDGF PKNOX1 MLX CREB3L1 ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF143 SOAT2 ZNF740 ENSG00000270175 HOXC6 RNU6-333P CSAD HOXC4 HOXC9 HOXC8 PFDN5
GH12G053101 1.3 Ensembl ENCODE 10.4 +77.2 77216 3.4 HDGF PKNOX1 FOXA2 ATF1 MLX AGO1 ZFP64 ARID4B TCF12 ZNF263 SOAT2 SPRYD3 MAP3K12 RNU6-333P ZNF740 CSAD KRT76 VTI1BP3
GH12G053368 2 FANTOM5 Ensembl ENCODE dbSUPER 6.4 -190.7 -190728 5.7 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B SLC30A9 SP1 AAAS ENSG00000258344 ENSG00000270175 COPZ1 CBX5 LOC100652999 MAP3K12 ZNF740 ENSG00000257808
GH12G053199 1.4 Ensembl ENCODE dbSUPER 7.3 -19.8 -19775 1.9 HDGF PKNOX1 FOXA2 TBL1XR1 BMI1 NFXL1 TCF12 GATA2 ZNF143 RELB ZNF740 CSAD SOAT2 ITGB7
GH12G053158 1.3 Ensembl ENCODE 7.4 +21.3 21342 1.1 HDGF PKNOX1 ATF1 MLX CREB3L1 ARNT WRNIP1 SIN3A ARID4B DMAP1 PFDN5 LOC283335 CSAD GC12P053162 ENSG00000257808
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CSAD on UCSC Golden Path with GeneCards custom track

Promoters for CSAD Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000052157 109 1601 HDGF HNRNPUL1 PKNOX1 FOXA2 MLX ARID4B SIN3A DMAP1 ZNF2 YY1

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

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

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

Gene Ontology (GO) - Molecular Function for CSAD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004782 sulfinoalanine decarboxylase activity IEA --
GO:0016829 lyase activity IEA --
GO:0016831 carboxy-lyase activity IEA --
GO:0030170 pyridoxal phosphate binding 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

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
endoplasmic reticulum 2
nucleus 1
cytosol 1
lysosome 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.

Gene Ontology (GO) - Biological Process for CSAD Gene

GO ID Qualified GO term Evidence PubMed IDs
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
L-Cysteine Approved Nutra Target 0
Carbon dioxide Approved, Vet_approved Pharma 0
Taurine Experimental Nutra Non-selective, endogenous glycine receptor partial agonist 28
3-Sulfinoalanine Experimental Pharma 0
Pyridoxal Phosphate Nutra Target, cofactor 15

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
5-L-Glutamyl-taurine
  • 5-Glutamyl-taurine
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:

CRISPR Products

Inhibitory RNA Products

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 from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for CSAD Gene



NURSA nuclear receptor signaling pathways regulating expression of CSAD Gene:

CSAD

SOURCE GeneReport for Unigene cluster for CSAD Gene:

Hs.279815

Evidence on tissue expression from TISSUES for CSAD Gene

  • Nervous system(4.5)
  • Liver(2.5)
  • Lung(2.2)
genes like me logo Genes that share expression patterns with CSAD: view

Primer Products

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt 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 34 35
  • 99.62 (n)
cow
(Bos Taurus)
Mammalia CSAD 34 35
  • 89.59 (n)
dog
(Canis familiaris)
Mammalia CSAD 34 35
  • 89.18 (n)
mouse
(Mus musculus)
Mammalia Csad 34 16 35
  • 88.24 (n)
rat
(Rattus norvegicus)
Mammalia Csad 34
  • 87.69 (n)
oppossum
(Monodelphis domestica)
Mammalia CSAD 35
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CSAD 35
  • 65 (a)
OneToOne
chicken
(Gallus gallus)
Aves CSAD 34 35
  • 72.88 (n)
lizard
(Anolis carolinensis)
Reptilia CSAD 35
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia csad 34
  • 65.76 (n)
zebrafish
(Danio rerio)
Actinopterygii csad 34 35
  • 65.12 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9083 34
fruit fly
(Drosophila melanogaster)
Insecta b 36 35
  • 52 (a)
Gad1 36
  • 47 (a)
CG5618 35
  • 46 (a)
ManyToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.8535 34
Species where no ortholog for CSAD 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)
  • 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
rs1000085610 -- 53,181,394(+) AAAGG(C/G)TCTCC intron-variant, upstream-variant-2KB
rs1000291424 -- 53,157,652(+) AAACA(G/T)ACCAA downstream-variant-500B
rs1000395353 -- 53,163,409(+) CCAGG(C/G/T)AGAGA intron-variant
rs1000441325 -- 53,174,795(+) TCAAA(A/T)ATATA intron-variant, nc-transcript-variant, upstream-variant-2KB
rs1000794573 -- 53,168,663(+) ATAAT(A/G)GTAAT intron-variant

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)

Relevant External Links for CSAD Gene

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

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 64
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  3. 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 22 64
  4. Phospho-tyrosine dependent protein-protein interaction network. (PMID: 25814554) Grossmann A. … Stelzl U. (Mol. Syst. Biol. 2015) 3 64
  5. Mammalian CSAD and GADL1 have distinct biochemical properties and patterns of brain expression. (PMID: 26327310) Winge I. … Haavik J. (Neurochem. Int. 2015) 3 64

Products for CSAD Gene

Sources for CSAD Gene

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