Gene Gene information from NCBI Gene database.
Entrez ID 51380
Gene name Cysteine sulfinic acid decarboxylase
Gene symbol CSAD
Synonyms (NCBI Gene)
CSDPCAP
Chromosome 12
Chromosome location 12q13.13
Summary 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 hypotaur
miRNA miRNA information provided by mirtarbase database.
117
miRTarBase ID miRNA Experiments Reference
MIRT911345 hsa-miR-106a CLIP-seq
MIRT911346 hsa-miR-106b CLIP-seq
MIRT911347 hsa-miR-122 CLIP-seq
MIRT911348 hsa-miR-1234 CLIP-seq
MIRT911349 hsa-miR-1245 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
20
GO ID Ontology Definition Evidence Reference
GO:0004068 Function Aspartate 1-decarboxylase activity IEA
GO:0004782 Function Sulfinoalanine decarboxylase activity IBA
GO:0004782 Function Sulfinoalanine decarboxylase activity IEA
GO:0004782 Function Sulfinoalanine decarboxylase activity ISS
GO:0005737 Component Cytoplasm IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
616569 18966 ENSG00000139631
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9Y600
Protein name Cysteine sulfinic acid decarboxylase (EC 4.1.1.29) (Aspartate 1-decarboxylase) (EC 4.1.1.11) (Cysteine-sulfinate decarboxylase) (Sulfinoalanine decarboxylase)
Protein 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 decarboxylati
PDB 2JIS
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00282 Pyridoxal_deC 49 417 Pyridoxal-dependent decarboxylase conserved domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in liver and brain. Also expressed in both astrocytes and neurons, but lower levels are expressed in astrocytes. {ECO:0000269|PubMed:26327310}.
Sequence
Sequence length 493
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  beta-Alanine metabolism
Taurine and hypotaurine metabolism
Pantothenate and CoA biosynthesis
Metabolic pathways
 
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
LIVER CIRRHOSIS, EXPERIMENTAL CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OBESITY GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PREECLAMPSIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Atherosclerosis Associate 27573188
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Associate 31943856, 38025761
★☆☆☆☆
Found in Text Mining only
Neoplasms Associate 27452673, 30603903
★☆☆☆☆
Found in Text Mining only
Non Muscle Invasive Bladder Neoplasms Associate 30603903
★☆☆☆☆
Found in Text Mining only
Sick Sinus Syndrome Associate 30603903
★☆☆☆☆
Found in Text Mining only