Homo sapiens Protein: SARDH
Summary
InnateDB Protein IDBP-91538.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol SARDH
Protein Name sarcosine dehydrogenase
Synonyms BPR-2; DMGDHL1; SAR; SARD; SDH;
Species Homo sapiens
Ensembl Protein ENSP00000360938
InnateDB Gene IDBG-91536 (SARDH)
Protein Structure
UniProt Annotation
Function
Subcellular Localization Mitochondrion matrix {ECO:0000250}.
Disease Associations Sarcosinemia (SARCOS) [MIM:268900]: A metabolic disorder characterized by an increased concentration of sarcosine in plasma and an increased excretion of sarcosine in urine. Sarcosinemia is most probably a benign condition without significant clinical problems. Some reports have associated sarcosinemia with mental retardation and neurologic problems. {ECO:0000269PubMed:10444331, ECO:0000269PubMed:22825317}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
Experimentally validated
Total 2 [view]
Protein-Protein 2 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0004047 aminomethyltransferase activity
GO:0008480 sarcosine dehydrogenase activity
GO:0016491 oxidoreductase activity
Biological Process
GO:0006546 glycine catabolic process
GO:0032259 methylation
GO:0055114 oxidation-reduction process
Cellular Component
GO:0005739 mitochondrion
GO:0005759 mitochondrial matrix
Protein Structure and Domains
PDB ID
InterPro IPR006076 FAD dependent oxidoreductase
IPR006222 Glycine cleavage T-protein, N-terminal
IPR013977 Glycine cleavage T-protein, C-terminal barrel domain
IPR029043 Glycine cleavage T-protein/YgfZ, C-terminal domain
PFAM PF01266
PF01571
PF08669
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q9UL12
PhosphoSite PhosphoSite-Q9UL12
TrEMBL Q5SYV1
UniProt Splice Variant
Entrez Gene 1757
UniGene Hs.198003
RefSeq NP_009032
HUGO HGNC:10536
OMIM 604455
CCDS CCDS6978
HPRD 06831
IMGT
EMBL AF095735 AF129265 AF140726 AF140727 AF140728 AF140729 AF140730 AF140731 AF140732 AF140733 AF140734 AF140735 AF140736 AF140737 AF140738 AF140739 AF140740 AF140741 AF140742 AF140743 AF140744 AF140745 AF162428 AK298348 AK316494 AL365494 AL590710 BC136363 BC136364 BC144035 CH471090
GenPept AAD32214 AAD33412 AAD43585 AAD53398 AAI36364 AAI36365 AAI44036 BAG60594 BAH14865 CAI12276 CAI13356 EAW88103