Seroatlas · Human Serome Atlas

SARDH

Sarcosine dehydrogenase, mitochondrial

Also known as: DMGDHL1, SARDH_HUMAN, SDH

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q9UL12
Gene
SARDH
Ensembl
ENSG00000123453
Chromosome
9
Canonical length
918 aa
Protein class
Disease related genes, Enzymes, Metabolic proteins, Plasma proteins, Potential drug targets, Predicted intracellular proteins
Subcellular location
Mitochondria

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

918 residues, UniProt reviewed canonical sequence.

>Q9UL12|SARDH
     1  MASLSRALRV AAAHPRQSPT RGMGPCNLSS AAGPTAEKSV PYQRTLKEGQ GTSVVAQGPS
    61  RPLPSTANVV VIGGGSLGCQ TLYHLAKLGM SGAVLLERER LTSGTTWHTA GLLWQLRPSD
   121  VEVELLAHTR RVVSRELEEE TGLHTGWIQN GGLFIASNRQ RLDEYKRLMS LGKAYGVESH
   181  VLSPAETKTL YPLMNVDDLY GTLYVPHDGT MDPAGTCTTL ARAASARGAQ VIENCPVTGI
   241  RVWTDDFGVR RVAGVETQHG SIQTPCVVNC AGVWASAVGR MAGVKVPLVA MHHAYVVTER
   301  IEGIQNMPNV RDHDASVYLR LQGDALSVGG YEANPIFWEE VSDKFAFGLF DLDWEVFTQH
   361  IEGAINRVPV LEKTGIKSTV CGPESFTPDH KPLMGEAPEL RGFFLGCGFN SAGMMLGGGC
   421  GQELAHWIIH GRPEKDMHGY DIRRFHHSLT DHPRWIRERS HESYAKNYSV VFPHDEPLAG
   481  RNMRRDPLHE ELLGQGCVFQ ERHGWERPGW FHPRGPAPVL EYDYYGAYGS RAHEDYAYRR
   541  LLADEYTFAF PPHHDTIKKE CLACRGAAAV FDMSYFGKFY LVGLDARKAA DWLFSADVSR
   601  PPGSTVYTCM LNHRGGTESD LTVSRLAPSH QASPLAPAFE GDGYYLAMGG AVAQHNWSHI
   661  TTVLQDQKSQ CQLIDSSEDL GMISIQGPAS RAILQEVLDA DLSNEAFPFS THKLLRAAGH
   721  LVRAMRLSFV GELGWELHIP KASCVPVYRA VMAAGAKHGL INAGYRAIDS LSIEKGYRHW
   781  HADLRPDDSP LEAGLAFTCK LKSPVPFLGR EALEQQRAAG LRRRLVCFTM EDKVPMFGLE
   841  AIWRNGQVVG HVRRADFGFA IDKTIAYGYI HDPSGGPVSL DFVKSGDYAL ERMGVTYGAQ
   901  AHLKSPFDPN NKRVKGIY

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SARDH can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Intracellular
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.22
Highest tissue expression
100 nTPM

Expression across tissuesHPA

Tissue

  • liver: 100 nTPM
  • pancreas: 40 nTPM
  • epididymis: 39 nTPM
  • kidney: 11 nTPM
  • salivary gland: 4.8 nTPM
  • thymus: 4 nTPM

Single-cell type

  • hepatocytes: 180 nCPM
  • epididymal principal cells: 117 nCPM
  • oocytes: 97 nCPM
  • proximal tubule cells: 24 nCPM
  • pancreatic acinar cells: 22 nCPM
  • hepatic stellate cells: 19 nCPM

Immune cell

  • T-reg: 8.5 nTPM
  • naive CD4 T-cell: 6.5 nTPM
  • memory CD4 T-cell: 3.2 nTPM
  • total PBMC: 1.3 nTPM
  • naive CD8 T-cell: 1.2 nTPM
  • memory CD8 T-cell: 0.8 nTPM

Brain region

  • medulla oblongata: 12 nTPM
  • thalamus: 12 nTPM
  • cerebral cortex: 11 nTPM
  • pons: 11 nTPM
  • basal ganglia: 11 nTPM
  • hypothalamus: 10 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SARDH.

Disease | AllUniProt

Conditions SARDH is implicated in, by any mechanism.

Disease | GeneticClinVar

2 pathogenic / likely-pathogenic of 248 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Sarcosine dehydrogenase deficiency

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.88
gnomAD pLI
0
gnomAD missense Z
0.68
DepMap mean gene effect
-0.07
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

  • sarcosine catabolic process

Molecular functions

  • sarcosine dehydrogenase activity

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads SARDH as an antibody target. Whether an autoantibody or antibody against SARDH could matter depends on whether native SARDH is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

SARDH is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label SARDH as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/SARDH. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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