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Reviewed, UniProtKB/Swiss-Prot Q9UL12 (SARDH_HUMAN)

Last modified November 4, 2008. Version 56. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (7) | Third-party data | Customize display text xml rdf/xml gff fasta
Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents

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Names and origin

Protein namesRecommended name:
    Sarcosine dehydrogenase, mitochondrial
      Short name=SarDH
    EC=1.5.99.1
Alternative name(s):
    BPR-2
Gene names
Name: SARDH
Synonyms: DMGDHL1
OrganismHomo sapiens (Human)
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

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Protein attributes

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

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General annotation (Comments)

Catalytic activity

Sarcosine + acceptor + H(2)O = glycine + formaldehyde + reduced acceptor.

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 matrixBy similarity.

Involvement in disease

Defects in SARDH are a ause of sarcosinemia [MIM:268900]. Sarcosinemia is a metabolic disorder characterized by an increased concentration of sarcosine in plasma and urine due to sarcosine dehydrogenase deficiency. Prevalence has been estimated at 1:28'000 to 1:350'000 in newborn screening programs. Sarcosinemia is most probably a benign condition without significant clinical problems. It is transmitted in an autosomal recessive manner.

Sequence similarities

Belongs to the gcvT family.

Sequence caution

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

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Ontologies

Keywords

   Cellular componentMitochondrion
   Coding sequence diversityPolymorphism
   DomainTransit peptide
   LigandFAD
Flavoprotein
   Molecular functionOxidoreductase
   PTMAcetylation
Phosphoprotein

Gene Ontology (GO)

   Cellular componentmitochondrion

Inferred from sequence or structural similarity. Source: UniProtKB

Complete GO annotation...

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Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Transit peptide1 – ?Mitochondrion Potential
Chain? – 918Sarcosine dehydrogenase, mitochondrialPRO_0000010770

Amino acid modifications

Modified residue1081Tele-8alpha-FAD histidine By similarity
Modified residue7771Phosphotyrosine
Modified residue8841N6-acetyllysine By similarity

Natural variations

Natural variant221G → C: dbSNP rs35559818.
VAR_039077
Natural variant3721E → D: dbSNP rs35218200.
VAR_039078
Natural variant6141R → H: dbSNP rs2073817.
VAR_019687
Natural variant6481M → V: dbSNP rs886016.
VAR_019688

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Sequences

Sequence LengthMass (Da)Tools
Q9UL12-1 [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

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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: 10444331] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], INVOLVEMENT IN SARCOSINEMIA.
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: 15164053] [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]"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: 10686491] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 239-882, VARIANTS HIS-614 AND VAL-648.
Tissue: Brain.
[6]"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: 17693683] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT TYR-777, MASS SPECTROMETRY.

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Cross-references

Sequence databases

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.
AF129265 mRNA. Translation: AAD33412.1. Frameshift.
RefSeqNP_001128179.1.
NP_009032.2.
UniGeneHs.198003

3D structure databases

ModBaseSearch...

PTM databases

PhosphoSiteQ9UL12.

Genome annotation databases

EnsemblENSG00000123453. Homo sapiens. [Contig view]
GeneID1757.
KEGGhsa:1757.

Organism-specific databases

H-InvDBHIX0008511.
HIX0079029.
HGNCHGNC:10536. SARDH.
MIM268900. phenotype.
604455. gene.
Orphanet3129. Sarcosinemia.
PharmGKBPA34944.
GenAtlasSearch...
GeneCardsSearch...

Phylogenomic databases

HOGENOMQ9UL12.
HOVERGENQ9UL12.

Gene expression databases

ArrayExpressQ9UL12.
CleanExHS_SARDH.
GermOnlineENSG00000123453. Homo sapiens.

Family and domain databases

InterProIPR006076. FAD-dep_OxRdtase.
IPR013977. GCV_T_C.
IPR006222. GCV_T_N.
[Graphical view]
PfamPF01266. DAO. 1 hit.
PF01571. GCV_T. 1 hit.
PF08669. GCV_T_C. 1 hit.
[Graphical view]
BLOCKSSearch...
ProtoNetSearch...

Other Resources

NextBio7153.
SOURCESearch...

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Entry information

Entry nameSARDH_HUMAN
AccessionPrimary (citable) accession number: Q9UL12
Secondary accession number(s): Q5SYV0, Q9Y280, Q9Y2Y3
Entry history
Integrated into UniProtKB/Swiss-Prot: September 13, 2004
Last sequence update: May 1, 2000
Last modified: November 4, 2008
This is version 56 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation projectHPI (Human Proteome Initiative)

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Relevant documents

Human chromosome 9

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

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

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

PATHWAY comments

Index of metabolic and biosynthesis pathways

UniProtKB secondary accession numbers

Index of UniProtKB secondary accession numbers

SIMILARITY comments

Index of protein domains and families

Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents