CSAD (cysteine sulfinic acid decarboxylase)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 51380 |
| Gene name | Cysteine sulfinic acid decarboxylase |
| Gene symbol | CSAD |
| Synonyms (NCBI Gene) |
CSDPCAP
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| 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 |
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miRNA
miRNA information provided by mirtarbase database.
117
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Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
20
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Other IDs
Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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Protein
Protein information from UniProt database.
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UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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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
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| 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 |
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| Sequence length | 493 | ||||||||||
| Interactions | View interactions | ||||||||||
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Pathways
Pathway information has different metabolic/signaling pathways associated with genes.
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Associated diseases
Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
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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)
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