SARDH
entrez
1757
canonical
uniprot
Q9UL12
canonical
ensembl
ENSG00000123453
resolver
ensp
ENSP00000360938
resolver
ensp
ENSP00000403084
resolver
ensp
ENSP00000529421
resolver
ensp
ENSP00000529428
resolver
genesymbol
SARDH
resolver
genesymbol_syn
DMGDHL1
resolver
hgnc
HGNC:10536
resolver
uniprot
A8K596
resolver
uniprot
B2RMR5
resolver
uniprot
B4DPI2
resolver
uniprot
B7ZLT6
resolver
uniprot
Q5SYV0
resolver
uniprot
Q9Y280
resolver
uniprot
Q9Y2Y3
resolver
uniprot_entry
A8K596_HUMAN
resolver
uniprot_entry
SARDH_HUMAN
resolver
uniprot_sec
B2RMR5
resolver
uniprot_sec
B4DPI2
resolver
uniprot_sec
B7ZLT6
resolver
uniprot_sec
Q5SYV0
resolver
uniprot_sec
Q9Y280
resolver
uniprot_sec
Q9Y2Y3
resolver
amino_acid_sequence
MASLSRALRVAAAHPRQSPTRGMGPCNLSSAAGPTAEKSVPYQRTLKEGQGTSVVAQGPSRPLPSTANVVVIGGGSLGCQTLYHLAKLGMSGAVLLERERLTSGTTWHTAGLLWQLRPSDVEVELLAHTRRVVSRELEEETGLHTGWIQNGGLFIASNRQRLDEYKRLMSLGKAYGVESHVLSPAETKTLYPLMNVDDLYGTLYVPHDGTMDPAGTCTTLARAASARGAQVIENCPVTGIRVWTDDFGVRRVAGVETQHGSIQTPCVVNCAGVWASAVGRMAGVKVPLVAMHHAYVVTERIEGIQNMPNVRDHDASVYLRLQGDALSVGGYEANPIFWEEVSDKFAFGLFDLDWEVFTQHIEGAINRVPVLEKTGIKSTVCGPESFTPDHKPLMGEAPELRGFFLGCGFNSAGMMLGGGCGQELAHWIIHGRPEKDMHGYDIRRFHHSLTDHPRWIRERSHESYAKNYSVVFPHDEPLAGRNMRRDPLHEELLGQGCVFQERHGWERPGWFHPRGPAPVLEYDYYGAYGSRAHEDYAYRRLLADEYTFAFPPHHDTIKKECLACRGAAAVFDMSYFGKFYLVGLDARKAADWLFSADVSRPPGSTVYTCMLNHRGGTESDLTVSRLAPSHQASPLAPAFEGDGYYLAMGGAVAQHNWSHITTVLQDQKSQCQLIDSSEDLGMISIQGPASRAILQEVLDADLSNEAFPFSTHKLLRAAGHLVRAMRLSFVGELGWELHIPKASCVPVYRAVMAAGAKHGLINAGYRAIDSLSIEKGYRHWHADLRPDDSPLEAGLAFTCKLKSPVPFLGREALEQQRAAGLRRRLVCFTMEDKVPMFGLEAIWRNGQVVGHVRRADFGFAIDKTIAYGYIHDPSGGPVSLDFVKSGDYALERMGVTYGAQAHLKSPFDPNNKRVKGIY
uniprot
proteins
disease_involvement
DISEASE: 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 intellectual disability and neurologic problems. {ECO:0000269|PubMed:10444331, ECO:0000269|PubMed:22825317}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
1.5.8.3
uniprot
proteins
function
FUNCTION: Catalyzes the last step of the oxidative degradation of choline to glycine. Converts sarcosine into glycine. {ECO:0000250|UniProtKB:Q64380}.
uniprot
proteins
mass_dalton
101037
uniprot
proteins
pathway_participation
PATHWAY: Amine and polyamine degradation; sarcosine degradation; formaldehyde and glycine from sarcosine: step 1/1. {ECO:0000250|UniProtKB:Q64380}.
uniprot
proteins
protein_family
GcvT family
uniprot
proteins
pubmed
10444331
uniprot
proteins
pubmed
10686491
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15164053
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17693683
uniprot
proteins
pubmed
22825317
uniprot
proteins
pubmed
24275569
uniprot
proteins
sequence_length
918
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion matrix {ECO:0000250|UniProtKB:Q64380}.
uniprot
proteins