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Q9UL12 (SARDH_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 109. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Sarcosine dehydrogenase, mitochondrial

Short name=SarDH
EC=1.5.8.3
Alternative name(s):
BPR-2
Gene names
Name:SARDH
Synonyms:DMGDHL1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length918 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Catalytic activity

Sarcosine + H2O + electron-transfer flavoprotein = glycine + formaldehyde + reduced electron-transfer flavoprotein.

Cofactor

Binds 1 FAD covalently per monomer By similarity.

Pathway

Amine and polyamine degradation; sarcosine degradation; formaldehyde and glycine from sarcosine: step 1/1.

Subcellular location

Mitochondrion matrix By similarity.

Involvement in 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 mental retardation and neurologic problems.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.1 Ref.8

Sequence similarities

Belongs to the GcvT family.

Sequence caution

The sequence AAD33412.1 differs from that shown. Reason: Frameshift at position 867.

Ontologies

Keywords
   Cellular componentMitochondrion
   Coding sequence diversityPolymorphism
   DiseaseDisease mutation
   DomainTransit peptide
   LigandFAD
Flavoprotein
   Molecular functionOxidoreductase
   PTMAcetylation
Phosphoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processglycine catabolic process

Inferred from electronic annotation. Source: InterPro

   Cellular_componentmitochondrial matrix

Inferred from electronic annotation. Source: UniProtKB-SubCell

mitochondrion

Inferred from sequence or structural similarity. Source: UniProtKB

   Molecular_functionaminomethyltransferase activity

Inferred from electronic annotation. Source: InterPro

sarcosine dehydrogenase activity

Inferred from electronic annotation. Source: UniProtKB-EC

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Transit peptide1 – 2222Mitochondrion Potential
Chain23 – 918896Sarcosine dehydrogenase, mitochondrial
PRO_0000010770

Amino acid modifications

Modified residue381N6-succinyllysine By similarity
Modified residue1081Tele-8alpha-FAD histidine By similarity
Modified residue1731N6-acetyllysine; alternate By similarity
Modified residue1731N6-succinyllysine; alternate By similarity
Modified residue3771N6-succinyllysine By similarity
Modified residue3911N6-succinyllysine By similarity
Modified residue5591N6-acetyllysine By similarity
Modified residue7751N6-acetyllysine By similarity
Modified residue7771Phosphotyrosine Ref.7
Modified residue8021N6-acetyllysine; alternate By similarity
Modified residue8021N6-succinyllysine; alternate By similarity
Modified residue8841N6-acetyllysine; alternate By similarity
Modified residue8841N6-succinyllysine; alternate By similarity
Modified residue9041N6-acetyllysine; alternate By similarity
Modified residue9041N6-succinyllysine; alternate By similarity

Natural variations

Natural variant221G → C.
Corresponds to variant rs35559818 [ dbSNP | Ensembl ].
VAR_039077
Natural variant711V → F in SARCOS. Ref.8
VAR_069272
Natural variant2871P → L in SARCOS. Ref.8
Corresponds to variant rs149481147 [ dbSNP | Ensembl ].
VAR_069273
Natural variant3721E → D.
Corresponds to variant rs35218200 [ dbSNP | Ensembl ].
VAR_039078
Natural variant6141R → H. Ref.5 Ref.6
Corresponds to variant rs2073817 [ dbSNP | Ensembl ].
VAR_019687
Natural variant6481M → V. Ref.6
Corresponds to variant rs886016 [ dbSNP | Ensembl ].
VAR_019688

Sequences

Sequence LengthMass (Da)Tools
Q9UL12 [UniParc].

Last modified May 1, 2000. Version 1.
Checksum: 4ADA132D5F44B37A

FASTA918101,037
        10         20         30         40         50         60 
MASLSRALRV AAAHPRQSPT RGMGPCNLSS AAGPTAEKSV PYQRTLKEGQ GTSVVAQGPS 

        70         80         90        100        110        120 
RPLPSTANVV VIGGGSLGCQ TLYHLAKLGM SGAVLLERER LTSGTTWHTA GLLWQLRPSD 

       130        140        150        160        170        180 
VEVELLAHTR RVVSRELEEE TGLHTGWIQN GGLFIASNRQ RLDEYKRLMS LGKAYGVESH 

       190        200        210        220        230        240 
VLSPAETKTL YPLMNVDDLY GTLYVPHDGT MDPAGTCTTL ARAASARGAQ VIENCPVTGI 

       250        260        270        280        290        300 
RVWTDDFGVR RVAGVETQHG SIQTPCVVNC AGVWASAVGR MAGVKVPLVA MHHAYVVTER 

       310        320        330        340        350        360 
IEGIQNMPNV RDHDASVYLR LQGDALSVGG YEANPIFWEE VSDKFAFGLF DLDWEVFTQH 

       370        380        390        400        410        420 
IEGAINRVPV LEKTGIKSTV CGPESFTPDH KPLMGEAPEL RGFFLGCGFN SAGMMLGGGC 

       430        440        450        460        470        480 
GQELAHWIIH GRPEKDMHGY DIRRFHHSLT DHPRWIRERS HESYAKNYSV VFPHDEPLAG 

       490        500        510        520        530        540 
RNMRRDPLHE ELLGQGCVFQ ERHGWERPGW FHPRGPAPVL EYDYYGAYGS RAHEDYAYRR 

       550        560        570        580        590        600 
LLADEYTFAF PPHHDTIKKE CLACRGAAAV FDMSYFGKFY LVGLDARKAA DWLFSADVSR 

       610        620        630        640        650        660 
PPGSTVYTCM LNHRGGTESD LTVSRLAPSH QASPLAPAFE GDGYYLAMGG AVAQHNWSHI 

       670        680        690        700        710        720 
TTVLQDQKSQ CQLIDSSEDL GMISIQGPAS RAILQEVLDA DLSNEAFPFS THKLLRAAGH 

       730        740        750        760        770        780 
LVRAMRLSFV GELGWELHIP KASCVPVYRA VMAAGAKHGL INAGYRAIDS LSIEKGYRHW 

       790        800        810        820        830        840 
HADLRPDDSP LEAGLAFTCK LKSPVPFLGR EALEQQRAAG LRRRLVCFTM EDKVPMFGLE 

       850        860        870        880        890        900 
AIWRNGQVVG HVRRADFGFA IDKTIAYGYI HDPSGGPVSL DFVKSGDYAL ERMGVTYGAQ 

       910 
AHLKSPFDPN NKRVKGIY 

« Hide

References

« Hide 'large scale' references
[1]"Cloning and mapping of the cDNA for human sarcosine dehydrogenase, a flavoenzyme defective in patients with sarcosinemia."
Eschenbrenner M., Jorns M.S.
Genomics 59:300-308(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], POTENTIAL TRANSIT PEPTIDE, INVOLVEMENT IN SARCOS.
Tissue: Liver.
[2]"Characterization and cloning of human sarcosine dehydrogenase genomic and cDNA."
Hoard H.M., Binzak B.A., Vockley J.
Submitted (JUN-1999) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA].
[3]"DNA sequence and analysis of human chromosome 9."
Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L. expand/collapse author list , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I.
Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT HIS-614.
[6]"Physical and cDNA mapping in the DBH region of human chromosome 9q34."
Gilbert J.R., Kumar A., Newey S., Rao N., Ioannou P., Qiu H., Lin D., Xu P., Pettenati M.J., Pericak-Vance M.A.
Hum. Hered. 50:151-157(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 239-882, VARIANTS HIS-614 AND VAL-648.
Tissue: Brain.
[7]"Quantitative phosphoproteome profiling of Wnt3a-mediated signaling network: indicating the involvement of ribonucleoside-diphosphate reductase M2 subunit phosphorylation at residue serine 20 in canonical Wnt signal transduction."
Tang L.-Y., Deng N., Wang L.-S., Dai J., Wang Z.-L., Jiang X.-S., Li S.-J., Li L., Sheng Q.-H., Wu D.-Q., Li L., Zeng R.
Mol. Cell. Proteomics 6:1952-1967(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT TYR-777, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Embryonic kidney.
[8]"Mutations in the sarcosine dehydrogenase gene in patients with sarcosinemia."
Bar-joseph I., Pras E., Reznik-Wolf H., Marek-Yagel D., Abu-Horvitz A., Dushnitzky M., Goldstein N., Rienstein S., Dekel M., Pode-Shakked B., Zlotnik J., Benarrosh A., Gillery P., Hofliger N., Auray-Blais C., Garnotel R., Anikster Y.
Hum. Genet. 131:1805-1810(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS SARCOS PHE-71 AND LEU-287.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF095735 mRNA. Translation: AAD53398.2.
AF162428 mRNA. Translation: AAD43585.1.
AF140745 expand/collapse EMBL AC list , AF140726, AF140727, AF140728, AF140729, AF140730, AF140731, AF140732, AF140733, AF140734, AF140735, AF140736, AF140737, AF140738, AF140739, AF140740, AF140741, AF140742, AF140743, AF140744 Genomic DNA. Translation: AAD32214.1.
AL590710, AL365494 Genomic DNA. Translation: CAI12276.1.
AL365494, AL590710 Genomic DNA. Translation: CAI13356.1.
CH471090 Genomic DNA. Translation: EAW88103.1.
BC136363 mRNA. Translation: AAI36364.1.
BC136364 mRNA. Translation: AAI36365.1.
BC144035 mRNA. Translation: AAI44036.1.
AF129265 mRNA. Translation: AAD33412.1. Frameshift.
CCDSCCDS6978.1.
RefSeqNP_001128179.1. NM_001134707.1.
NP_009032.2. NM_007101.3.
XP_005272227.1. XM_005272170.1.
XP_006717053.1. XM_006716990.1.
XP_006717054.1. XM_006716991.1.
UniGeneHs.198003.

3D structure databases

ProteinModelPortalQ9UL12.
SMRQ9UL12. Positions 66-445, 478-852.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid108097. 2 interactions.
STRING9606.ENSP00000360938.

PTM databases

PhosphoSiteQ9UL12.

Polymorphism databases

DMDM52000845.

Proteomic databases

MaxQBQ9UL12.
PaxDbQ9UL12.
PRIDEQ9UL12.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000371872; ENSP00000360938; ENSG00000123453.
ENST00000439388; ENSP00000403084; ENSG00000123453.
GeneID1757.
KEGGhsa:1757.
UCSCuc004ceo.3. human.

Organism-specific databases

CTD1757.
GeneCardsGC09M136528.
H-InvDBHIX0079029.
HGNCHGNC:10536. SARDH.
HPAHPA057267.
HPA058086.
MIM268900. phenotype.
604455. gene.
neXtProtNX_Q9UL12.
Orphanet3129. Sarcosinemia.
PharmGKBPA34944.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0665.
HOGENOMHOG000251716.
HOVERGENHBG002326.
InParanoidQ9UL12.
KOK00314.
OMAAIWRNGQ.
OrthoDBEOG7W1533.
PhylomeDBQ9UL12.
TreeFamTF314735.

Enzyme and pathway databases

BioCycMetaCyc:HS04663-MONOMER.
UniPathwayUPA00292; UER00398.

Gene expression databases

ArrayExpressQ9UL12.
BgeeQ9UL12.
CleanExHS_SARDH.
GenevestigatorQ9UL12.

Family and domain databases

Gene3D2.40.30.110. 1 hit.
3.30.1360.120. 3 hits.
InterProIPR006076. FAD-dep_OxRdtase.
IPR013977. GCV_T_C.
IPR006222. GCV_T_N.
IPR029043. GcvT/YgfZ_C.
IPR027266. TrmE/GcvT_dom1.
[Graphical view]
PfamPF01266. DAO. 1 hit.
PF01571. GCV_T. 1 hit.
PF08669. GCV_T_C. 1 hit.
[Graphical view]
SUPFAMSSF101790. SSF101790. 1 hit.
ProtoNetSearch...

Other

GeneWikiSARDH.
GenomeRNAi1757.
NextBio7153.
PROQ9UL12.
SOURCESearch...

Entry information

Entry nameSARDH_HUMAN
AccessionPrimary (citable) accession number: Q9UL12
Secondary accession number(s): B2RMR5 expand/collapse secondary AC list , B7ZLT6, Q5SYV0, Q9Y280, Q9Y2Y3
Entry history
Integrated into UniProtKB/Swiss-Prot: September 13, 2004
Last sequence update: May 1, 2000
Last modified: July 9, 2014
This is version 109 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PATHWAY comments

Index of metabolic and biosynthesis pathways

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 9

Human chromosome 9: entries, gene names and cross-references to MIM