ExPASy logo ExPASy Home page Site Map Search ExPASy Contact us Swiss-Prot
Notice: This page will be replaced with www.uniprot.org. Please send us your feedback!
Search for

UniProtKB/Swiss-Prot entry Q9UL12


[Entry info] [Name and origin] [References] [Comments] [Cross-references] [Keywords] [Features] [Sequence] [Tools]

Note: most headings are clickable, even if they don't appear as links. They link to the user manual or other documents.
Entry information
Entry name SARDH_HUMAN
Primary accession number Q9UL12
Secondary accession numbers Q5SYV0 Q9Y280 Q9Y2Y3
Integrated into Swiss-Prot on September 13, 2004
Sequence was last modified on May 1, 2000 (Sequence version 1)
Annotations were last modified on    July 22, 2008 (Entry version 55)
Name and origin of the protein
Protein name Sarcosine dehydrogenase, mitochondrial [Precursor]
Synonyms SarDH
EC 1.5.99.1
BPR-2
Gene name
Name: SARDH
Synonyms: DMGDHL1
From
Homo sapiens (Human) [TaxID: 9606] 
Taxonomy Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.
Protein existence 1: Evidence at protein level;
References
[1]
NUCLEOTIDE SEQUENCE [MRNA], AND INVOLVEMENT IN SARCOSINEMIA.
TISSUE=Liver;
DOI=10.1006/geno.1999.5886; PubMed=10444331 [NCBI, ExPASy, EBI, Israel, Japan]
Eschenbrenner M., Jorns M.S.;
"Cloning and mapping of the cDNA for human sarcosine dehydrogenase, a flavoenzyme defective in patients with sarcosinemia.";
Genomics 59:300-308(1999).
[2]
NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA].
Hoard H.M., Binzak B.A., Vockley J.;
"Characterization and cloning of human sarcosine dehydrogenase genomic and cDNA.";
Submitted (JUN-1999) to the EMBL/GenBank/DDBJ databases.
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
DOI=10.1038/nature02465; PubMed=15164053 [NCBI, ExPASy, EBI, Israel, Japan]
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., 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.;
"DNA sequence and analysis of human chromosome 9.";
Nature 429:369-374(2004).
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
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., 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.
[5]
NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 239-882, AND VARIANTS HIS-614 AND VAL-648.
TISSUE=Brain;
DOI=10.1159/000022905; PubMed=10686491 [NCBI, ExPASy, EBI, Israel, Japan]
Gilbert J.R., Kumar A., Newey S., Rao N., Ioannou P., Qiu H., Lin D., Xu P., Pettenati M.J., Pericak-Vance M.A.;
"Physical and cDNA mapping in the DBH region of human chromosome 9q34.";
Hum. Hered. 50:151-157(2000).
[6]
PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT TYR-777, AND MASS SPECTROMETRY.
DOI=10.1074/mcp.M700120-MCP200; PubMed=17693683 [NCBI, ExPASy, EBI, Israel, Japan]
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.;
"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.";
Mol. Cell. Proteomics 6:1952-1967(2007).
Comments
Copyright
Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms. Distributed under the Creative Commons Attribution-NoDerivs License.
Cross-references
Sequence databases
EMBL
AF095735; AAD53398.2; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF162428; AAD43585.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF140745; AAD32214.1; -; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF140726; AAD32214.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF140727; AAD32214.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF140728; AAD32214.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF140729; AAD32214.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF140730; AAD32214.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF140731; AAD32214.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF140732; AAD32214.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF140733; AAD32214.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF140734; AAD32214.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF140735; AAD32214.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF140736; AAD32214.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF140737; AAD32214.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF140738; AAD32214.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF140739; AAD32214.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF140740; AAD32214.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF140741; AAD32214.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF140742; AAD32214.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF140743; AAD32214.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF140744; AAD32214.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AL590710; CAI12276.1; -; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AL365494; CAI12276.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AL365494; CAI13356.1; -; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AL590710; CAI13356.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
CH471090; EAW88103.1; -; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF129265; AAD33412.1; ALT_FRAME; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
RefSeq NP_009032.2; -.
UniGene Hs.198003
3D structure databases
ModBase Q9UL12.
PTM databases
PhosphoSite Q9UL12; -.
Organism-specific databases
H-InvDB HIX0008511; -.
HIX0079029; -.
HGNC HGNC:10536; SARDH.
GenAtlas SARDH.
MIM 268900; phenotype. [NCBI / EBI]
604455; gene. [NCBI / EBI]
Orphanet 3129; Sarcosinemia.
PharmGKB PA34944; -.
GeneCards Q9UL12.
Gene expression databases
ArrayExpress Q9UL12; -.
CleanEx HS_SARDH; -.
GermOnline ENSG00000123453; Homo sapiens.
Ontologies
GO
GO:0005739; Cellular component: mitochondrion (inferred from sequence or structural similarity from UniProtKB).
QuickGo view.
Family and domain databases
InterPro IPR006076; FAD-dep_OxRdtase.
IPR013977; GCV_T_C.
IPR006222; GCV_T_N.
Graphical view of domain structure.
Pfam PF01266; DAO; 1.
PF01571; GCV_T; 1.
PF08669; GCV_T_C; 1.
Pfam graphical view of domain structure.
BLOCKS Q9UL12.
Genome annotation databases
Ensembl ENSG00000123453; Homo sapiens. [Contig view]
GeneID 1757; -.
KEGG hsa:1757; -.
Phylogenomic databases
HOGENOM Q9UL12; -.
HOVERGEN Q9UL12; -.
Other
SOURCE SARDH; Homo sapiens.
ProtoNet Q9UL12.
UniRef View cluster of proteins with at least 50% / 90% / 100% identity.
Keywords
Acetylation; FAD; Flavoprotein; Mitochondrion; Oxidoreductase; Phosphoprotein; Polymorphism; Transit peptide.
Features
SEVIEWER logo Feature table viewer
KeyFrom   To Length Description FTId
TRANSIT   1     ?        Mitochondrion (Potential). 
CHAIN   ?   918        Sarcosine dehydrogenase, mitochondrial. PRO_0000010770
MOD_RES   108   108        Tele-8alpha-FAD histidine (By similarity). 
MOD_RES   777   777        Phosphotyrosine. 
MOD_RES   884   884        N6-acetyllysine (By similarity). 
VARIANT   22    22  1     G -> C (in dbSNP:rs35559818 [NCBI]). VAR_039077 
VARIANT   372   372  1     E -> D (in dbSNP:rs35218200 [NCBI]). VAR_039078 
VARIANT   614   614  1     R -> H (in dbSNP:rs2073817 [NCBI]). VAR_019687 
VARIANT   648   648  1     M -> V (in dbSNP:rs886016 [NCBI]). VAR_019688 
Sequence information
Length: 918 AA [This is the length of the unprocessed precursor] Molecular weight: 101037 Da [This is the MW of the unprocessed precursor] CRC64: 4ADA132D5F44B37A [This is a checksum on the sequence]
        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 

Q9UL12 in FASTA format

View entry in original UniProtKB/Swiss-Prot format
View entry in raw text format (no links)
Report form for errors/updates in this UniProtKB/Swiss-Prot entry

BLAST logo BLAST submission on ExPASy/SIB
or at NCBI (USA)
Tools Sequence analysis tools: ProtParam, ProtScale, Compute pI/Mw, PeptideMass, PeptideCutter, Dotlet (Java)
PROSITE logo ScanProsite, MotifScan SWISS-MODEL Submit a homology modeling request to SWISS-MODEL
NPSA logo NPSA Sequence analysis tools

ExPASy logo ExPASy Home page Site Map Search ExPASy Contact us Swiss-Prot
 Hosted by ca flag CBR Canada Mirror sites: Australia  Brazil  China  Korea  Switzerland
Notice: This page will be replaced with www.uniprot.org. Please send us your feedback!