Gene Gene information from NCBI Gene database.
Entrez ID 10993
Gene name Serine dehydratase
Gene symbol SDS
Synonyms (NCBI Gene)
SDHhSDH
Chromosome 12
Chromosome location 12q24.13
Summary This gene encodes one of three enzymes that are involved in metabolizing serine and glycine. L-serine dehydratase converts L-serine to pyruvate and ammonia and requires pyridoxal phosphate as a cofactor. The encoded protein can also metabolize threonine t
miRNA miRNA information provided by mirtarbase database.
5
miRTarBase ID miRNA Experiments Reference
MIRT2098155 hsa-miR-2278 CLIP-seq
MIRT2098156 hsa-miR-2392 CLIP-seq
MIRT2098157 hsa-miR-377 CLIP-seq
MIRT2098158 hsa-miR-4274 CLIP-seq
MIRT2098159 hsa-miR-4704-3p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
22
GO ID Ontology Definition Evidence Reference
GO:0003941 Function L-serine ammonia-lyase activity IBA
GO:0003941 Function L-serine ammonia-lyase activity IDA 15618015, 15689518, 16580895, 18342636
GO:0003941 Function L-serine ammonia-lyase activity IEA
GO:0004794 Function Threonine deaminase activity IDA 15618015, 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
182128 10691 ENSG00000135094
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P20132
Protein name L-serine dehydratase/L-threonine deaminase (SDH) (EC 4.3.1.17) (Hepatic serine dehydratase) (hSDH) (L-serine deaminase) (L-threonine dehydratase) (TDH) (EC 4.3.1.19)
Protein function Catalyzes the pyridoxal-phosphate-dependent dehydrative deamination of L-threonine and L-serine to ammonia and alpha-ketobutyrate and pyruvate, respectively. {ECO:0000269|PubMed:15618015, ECO:0000269|PubMed:15689518, ECO:0000269|PubMed:16580895,
PDB 1P5J , 4H27
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00291 PALP 5 304 Pyridoxal-phosphate dependent enzyme Family
Tissue specificity TISSUE SPECIFICITY: Predominantly expressed in the perivenous regions of the liver. {ECO:0000269|PubMed:15618015}.
Sequence
Sequence length 328
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Glycine, serine and threonine metabolism
Cysteine and methionine metabolism
Valine, leucine and isoleucine biosynthesis
Metabolic pathways
Carbon metabolism
Biosynthesis of amino acids
  Threonine catabolism
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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
COLORECTAL CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations