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Aliases for CSAD Gene

Aliases for CSAD Gene

  • Cysteine Sulfinic Acid Decarboxylase 2 3 3 5
  • P-Selectin Cytoplasmic Tail-Associated Protein 2 3
  • Cysteine-Sulfinate Decarboxylase 3 4
  • Sulfinoalanine Decarboxylase 3 4
  • CSD 3 4
  • Cysteine Sulfinic Acid Decarboxylase-Related Protein 3
  • EC 4.1.1.29 4
  • 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 and Stiff-Person Syndrome. Among its related pathways are Metabolism and Sulfur amino acid metabolism. Gene Ontology (GO) annotations related to this gene include pyridoxal phosphate binding and carboxy-lyase activity. An important paralog of this gene is GADL1.

Additional gene information for CSAD Gene

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

GeneHancer (GH) Regulatory Elements for CSAD Gene

Promoters and enhancers for CSAD 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
GH12J053179 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 669.5 -0.8 -809 4.8 HDGF PKNOX1 FOXA2 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B ZNF740 CSAD ATF7 PCBP2 AAAS LOC100652999 CALCOCO1 SP1 LOC105378250 ENSG00000257500
GH12J053173 Promoter 0.5 EPDnew 650.4 +7.0 6963 0.1 CSAD ZNF740 ENSG00000257808 GC12P053162
GH12J053498 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 23.6 -319.7 -319697 5 CLOCK ZFP64 DMAP1 YY1 ZNF213 ZNF143 ZNF548 ZNF263 SP3 NFYC MAP3K12 ENSG00000270175 TARBP2 KRT1 ZNF740 HNRNPA1 ATF7 PCBP2 SP1 AAAS
GH12J053003 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 22.3 +174.3 174256 5.3 CLOCK MLX YBX1 DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 EIF4B SP1 ZNF740 ATF7 AAAS CSAD LOC100652999 ENSG00000257808 LOC105378250 ENSG00000257500
GH12J052894 Promoter/Enhancer 2.3 FANTOM5 Ensembl ENCODE dbSUPER 19.3 +278.0 277981 16.1 CLOCK MLX FEZF1 DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 GC12M052900 AAAS ZNF740 PCBP2 SP1 MAP3K12 LOC100652999 ATF7 EIF4B ENSG00000257808
- 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 UCSC Golden Path with GeneCards custom track

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

Genomic Locations for CSAD Gene

Genomic Locations for CSAD Gene
chr12:53,157,663-53,180,909
(GRCh38/hg38)
Size:
23,247 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=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

Post-translational modifications for CSAD Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CSAD Gene

Domains & Families for CSAD Gene

Gene Families for CSAD Gene

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

Protein Domains 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

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

Phenotypes From GWAS Catalog 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

Clone 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 , Subcellular locations from the Human Protein Atlas (HPA) 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
Pyridoxal Phosphate Approved, Investigational Nutra Target, cofactor 17
Taurine Approved Nutra Non-selective, endogenous glycine receptor partial agonist 31
Carbon dioxide Approved, Investigational, Vet_approved Pharma 0
3-Sulfinoalanine Experimental Pharma 0

(4) 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
Cysteic acid
  • 3-Sulfoalanine
  • beta-Sulfoalanine
  • Cysteine sulfonic acid
  • 3-Sulphoalanine
  • Cysteate
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:

Clone 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, 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(2.6)
  • Lung(2.2)
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 , 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 33
  • 99.62 (n)
OneToOne
cow
(Bos Taurus)
Mammalia CSAD 34 33
  • 89.59 (n)
OneToOne
dog
(Canis familiaris)
Mammalia CSAD 34 33
  • 89.18 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Csad 16 34 33
  • 88.24 (n)
rat
(Rattus norvegicus)
Mammalia Csad 33
  • 87.69 (n)
oppossum
(Monodelphis domestica)
Mammalia CSAD 34
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CSAD 34
  • 65 (a)
OneToOne
chicken
(Gallus gallus)
Aves CSAD 34 33
  • 72.88 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CSAD 34
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia csad 33
  • 65.76 (n)
zebrafish
(Danio rerio)
Actinopterygii csad 34 33
  • 65.12 (n)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9083 33
fruit fly
(Drosophila melanogaster)
Insecta Gad1 35
  • 47 (a)
CG5618 34
  • 46 (a)
ManyToMany
b 34 35
  • 45 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea Cin.8535 33
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.8535 33
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)
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 from dbSNP and Humsavar for CSAD Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs1000085610 -- 53,181,394(-) G/C upstream_transcript_variant
rs1000291424 -- 53,157,652(-) T/G downstream_transcript_variant
rs1000395353 -- 53,163,409(-) C/G/T intron_variant
rs1000441325 -- 53,174,795(-) A/T genic_upstream_transcript_variant, intron_variant, non_coding_transcript_variant, upstream_transcript_variant
rs1000794573 -- 53,168,663(-) A/G genic_upstream_transcript_variant, 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)

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

(2) MalaCards diseases for CSAD Gene - From: HGMD, DISEASES, and GeneCards

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

Additional Disease Information for 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 DS … MGC Project Team (Genome research 2004) 2 3 4 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  3. 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 22 58
  4. Phospho-tyrosine dependent protein-protein interaction network. (PMID: 25814554) Grossmann A … Stelzl U (Molecular systems biology 2015) 3 58
  5. Mammalian CSAD and GADL1 have distinct biochemical properties and patterns of brain expression. (PMID: 26327310) Winge I … Haavik J (Neurochemistry international 2015) 3 58

Products for CSAD Gene

Sources for CSAD Gene

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