Homo sapiens Gene: SARDH
Summary
InnateDB Gene IDBG-91536.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol SARDH
Gene Name sarcosine dehydrogenase
Synonyms BPR-2; DMGDHL1; SAR; SARD; SDH
Species Homo sapiens
Ensembl Gene ENSG00000123453
Encoded Proteins
sarcosine dehydrogenase
sarcosine dehydrogenase
sarcosine dehydrogenase
sarcosine dehydrogenase
sarcosine dehydrogenase
sarcosine dehydrogenase
sarcosine dehydrogenase
sarcosine dehydrogenase
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes an enzyme localized to the mitochondrial matrix which catalyzes the oxidative demethylation of sarcosine. This enzyme is distinct from another mitochondrial matrix enzyme, dimethylglycine dehydrogenase, which catalyzes a reaction resulting in the formation of sarcosine. Mutations in this gene are associated with sarcosinemia. Alternatively spliced transcript variants have been described. [provided by RefSeq, Oct 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 9:133663560-133739955
Strand Reverse strand
Band q34.2
Transcripts
ENST00000371872 ENSP00000360938
ENST00000371868 ENSP00000360934
ENST00000371867 ENSP00000360933
ENST00000298628 ENSP00000298628
ENST00000422262 ENSP00000415537
ENST00000439388 ENSP00000403084
ENST00000427237 ENSP00000394210
ENST00000469828
ENST00000616662 ENSP00000484683
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:0008150 biological_process
GO:0032259 methylation
GO:0055114 oxidation-reduction process
Cellular Component
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005759 mitochondrial matrix
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
KEGG
Glycine, serine and threonine metabolism pathway
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene 1757
UniGene
RefSeq NM_001134707 NM_007101 XM_005272170 XM_006716990 XM_006716991
HUGO HGNC:10536
OMIM 604455
CCDS CCDS6978
HPRD
IMGT
EMBL
GenPept
RNA Seq Atlas 1757