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Gene Gene information from NCBI Gene database.
Entrez ID 113675
Gene name Serine dehydratase like
Gene symbol SDSL
Synonyms (NCBI Gene)
SDH 2SDHLSDS-RS1TDHcSDH
Chromosome 12
Chromosome location 12q24.13
miRNA miRNA information provided by mirtarbase database.
31 Show/Hide all (31)
miRTarBase ID miRNA Experiments Reference
MIRT2098160 hsa-miR-1827 CLIP-seq
MIRT2098161 hsa-miR-205 CLIP-seq
MIRT2098162 hsa-miR-3612 CLIP-seq
MIRT2098163 hsa-miR-4433 CLIP-seq
MIRT2098164 hsa-miR-4459 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
15 Show/Hide all (15)
GO ID Ontology Definition Evidence Reference
GO:0003941 Function L-serine ammonia-lyase activity IBA
GO:0003941 Function L-serine ammonia-lyase activity IDA 16580895
GO:0003941 Function L-serine ammonia-lyase activity IEA
GO:0004794 Function Threonine deaminase activity IDA 16580895
GO:0004794 Function Threonine deaminase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
620735 30404 ENSG00000139410
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96GA7
Protein name Serine dehydratase-like (Cancerous serine dehydratase) (cSDH) (Glutamate racemase) (EC 5.1.1.3) (L-serine deaminase) (EC 4.3.1.17) (L-serine dehydratase/L-threonine deaminase) (SDHL) (L-threonine dehydratase) (TDH) (EC 4.3.1.19) (Serine dehydratase 2) (SD
Protein function Catalyzes the pyridoxal-phosphate-dependent dehydrative deamination of L-threonine and L-serine to ammonia and alpha-ketobutyrate and pyruvate, respectively (PubMed:16580895, PubMed:18342636). Also exhibits racemase activity towards L-glutamate
PDB 2RKB
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00291 PALP 12 → 310 Pyridoxal-phosphate dependent enzyme Family
Tissue specificity TISSUE SPECIFICITY: Expressed in lung cancer cell lines. {ECO:0000269|PubMed:16580895}.
Sequence
Sequence length 329
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
KEGG Pathway Reactome Pathway
Glycine, serine and threonine metabolism Threonine catabolism
Cysteine and methionine metabolism  
Valine, leucine and isoleucine biosynthesis  
Metabolic pathways  
Carbon metabolism  
Biosynthesis of amino acids  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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 Reference Evidence Score
Hepatocellular carcinoma Uncertain significance ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Colon Carcinoma Colon Carcinoma BEFREE 16061205
★★★★★
★☆☆☆☆
Found in Text Mining only
Intracranial Aneurysm Intracranial aneurysm Pubtator 39206894 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Malignant tumor of colon Colonic Neoplasms BEFREE 16061205
★★★★★
★☆☆☆☆
Found in Text Mining only
Mitochondrial Diseases Mitochondrial disease Pubtator 37410216 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only