• Gene id: 1757

Gene Summary

• Gene Symbol: SARDH   Gene   UCSC   Ensembl
• Aliases: BPR-2, DMGDHL1, SAR, SARD, SDH
• Gene name: sarcosine dehydrogenase
• Alternate names: sarcosine dehydrogenase, mitochondrial, dimethylglycine dehydrogenase-like 1,
• Gene location: 9q34.2 (133739957: 133663073)     Exons: 20     NC_000009.12
• Gene summary(Entrez): 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 resulti
• OMIM: 604455

Protein Summary

• Protein general information: Q9UL12  
  • Name: Sarcosine dehydrogenase, mitochondrial (SarDH) (EC 1.5.8.3) (BPR 2)
  • Length: 918  
  • Mass: 101037
• Sequence:

  MASLSRALRVAAAHPRQSPTRGMGPCNLSSAAGPTAEKSVPYQRTLKEGQGTSVVAQGPSRPLPSTANVVVIGGG
  SLGCQTLYHLAKLGMSGAVLLERERLTSGTTWHTAGLLWQLRPSDVEVELLAHTRRVVSRELEEETGLHTGWIQN
  GGLFIASNRQRLDEYKRLMSLGKAYGVESHVLSPAETKTLYPLMNVDDLYGTLYVPHDGTMDPAGTCTTLARAAS
  ARGAQVIENCPVTGIRVWTDDFGVRRVAGVETQHGSIQTPCVVNCAGVWASAVGRMAGVKVPLVAMHHAYVVTER
  IEGIQNMPNVRDHDASVYLRLQGDALSVGGYEANPIFWEEVSDKFAFGLFDLDWEVFTQHIEGAINRVPVLEKTG
  IKSTVCGPESFTPDHKPLMGEAPELRGFFLGCGFNSAGMMLGGGCGQELAHWIIHGRPEKDMHGYDIRRFHHSLT
  DHPRWIRERSHESYAKNYSVVFPHDEPLAGRNMRRDPLHEELLGQGCVFQERHGWERPGWFHPRGPAPVLEYDYY
  GAYGSRAHEDYAYRRLLADEYTFAFPPHHDTIKKECLACRGAAAVFDMSYFGKFYLVGLDARKAADWLFSADVSR
  PPGSTVYTCMLNHRGGTESDLTVSRLAPSHQASPLAPAFEGDGYYLAMGGAVAQHNWSHITTVLQDQKSQCQLID
  SSEDLGMISIQGPASRAILQEVLDADLSNEAFPFSTHKLLRAAGHLVRAMRLSFVGELGWELHIPKASCVPVYRA
  VMAAGAKHGLINAGYRAIDSLSIEKGYRHWHADLRPDDSPLEAGLAFTCKLKSPVPFLGREALEQQRAAGLRRRL
  VCFTMEDKVPMFGLEAIWRNGQVVGHVRRADFGFAIDKTIAYGYIHDPSGGPVSLDFVKSGDYALERMGVTYGAQ
  AHLKSPFDPNNKRVKGIY

• Structural information:
  • Interpro: IPR006076  IPR036188  IPR032503  IPR013977  IPR006222   IPR029043  IPR027266  
  • STRING: ENSP00000360938
• Other Databases: GeneCards:  SARDH  Malacards:  SARDH

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016491	oxidoreductase activity	IBA	molecular function
GO:0005759	mitochondrial matrix	IBA	cellular component
GO:0005739	mitochondrion	IBA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:1901053	sarcosine catabolic process	IBA	biological process
GO:0008480	sarcosine dehydrogenase activity	IBA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0008480	sarcosine dehydrogenase activity	IEA	molecular function
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0042426	choline catabolic process	TAS	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0005759	mitochondrial matrix	IEA	cellular component
GO:0005739	mitochondrion	ISS	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00260	Glycine, serine and threonine metabolism

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq