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Q9UL12

- SARDH_HUMAN

UniProt

Q9UL12 - SARDH_HUMAN

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Protein
Sarcosine dehydrogenase, mitochondrial
Gene
SARDH, DMGDHL1
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5 - Experimental evidence at protein leveli

Functioni

Catalytic activityi

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

Cofactori

Binds 1 FAD covalently per monomer By similarity.

Pathwayi

GO - Molecular functioni

  1. aminomethyltransferase activity Source: InterPro
  2. sarcosine dehydrogenase activity Source: UniProtKB-EC
Complete GO annotation...

GO - Biological processi

  1. glycine catabolic process Source: InterPro
Complete GO annotation...

Keywords - Molecular functioni

Oxidoreductase

Keywords - Ligandi

FAD, Flavoprotein

Enzyme and pathway databases

BioCyciMetaCyc:HS04663-MONOMER.
UniPathwayiUPA00292; UER00398.

Names & Taxonomyi

Protein namesi
Recommended name:
Sarcosine dehydrogenase, mitochondrial (EC:1.5.8.3)
Short name:
SarDH
Alternative name(s):
BPR-2
Gene namesi
Name:SARDH
Synonyms:DMGDHL1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 9

Organism-specific databases

HGNCiHGNC:10536. SARDH.

Subcellular locationi

Mitochondrion matrix By similarity

GO - Cellular componenti

  1. mitochondrial matrix Source: UniProtKB-SubCell
  2. mitochondrion Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

Involvement in diseasei

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.2 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti71 – 711V → F in SARCOS. 1 Publication
VAR_069272
Natural varianti287 – 2871P → L in SARCOS. 1 Publication
Corresponds to variant rs149481147 [ dbSNP | Ensembl ].
VAR_069273

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi268900. phenotype.
Orphaneti3129. Sarcosinemia.
PharmGKBiPA34944.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transit peptidei1 – 2222Mitochondrion Reviewed prediction
Add
BLAST
Chaini23 – 918896Sarcosine dehydrogenase, mitochondrial
PRO_0000010770Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei38 – 381N6-succinyllysine By similarity
Modified residuei108 – 1081Tele-8alpha-FAD histidine By similarity
Modified residuei173 – 1731N6-acetyllysine; alternate By similarity
Modified residuei173 – 1731N6-succinyllysine; alternate By similarity
Modified residuei377 – 3771N6-succinyllysine By similarity
Modified residuei391 – 3911N6-succinyllysine By similarity
Modified residuei559 – 5591N6-acetyllysine By similarity
Modified residuei775 – 7751N6-acetyllysine By similarity
Modified residuei777 – 7771Phosphotyrosine1 Publication
Modified residuei802 – 8021N6-acetyllysine; alternate By similarity
Modified residuei802 – 8021N6-succinyllysine; alternate By similarity
Modified residuei884 – 8841N6-acetyllysine; alternate By similarity
Modified residuei884 – 8841N6-succinyllysine; alternate By similarity
Modified residuei904 – 9041N6-acetyllysine; alternate By similarity
Modified residuei904 – 9041N6-succinyllysine; alternate By similarity

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

MaxQBiQ9UL12.
PaxDbiQ9UL12.
PRIDEiQ9UL12.

PTM databases

PhosphoSiteiQ9UL12.

Expressioni

Gene expression databases

ArrayExpressiQ9UL12.
BgeeiQ9UL12.
CleanExiHS_SARDH.
GenevestigatoriQ9UL12.

Organism-specific databases

HPAiHPA057267.
HPA058086.

Interactioni

Protein-protein interaction databases

BioGridi108097. 2 interactions.
STRINGi9606.ENSP00000360938.

Structurei

3D structure databases

ProteinModelPortaliQ9UL12.
SMRiQ9UL12. Positions 66-445, 478-852.

Family & Domainsi

Sequence similaritiesi

Belongs to the GcvT family.

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiCOG0665.
HOGENOMiHOG000251716.
HOVERGENiHBG002326.
InParanoidiQ9UL12.
KOiK00314.
OMAiAIWRNGQ.
OrthoDBiEOG7W1533.
PhylomeDBiQ9UL12.
TreeFamiTF314735.

Family and domain databases

Gene3Di2.40.30.110. 1 hit.
3.30.1360.120. 3 hits.
InterProiIPR006076. FAD-dep_OxRdtase.
IPR013977. GCV_T_C.
IPR006222. GCV_T_N.
IPR029043. GcvT/YgfZ_C.
IPR027266. TrmE/GcvT_dom1.
[Graphical view]
PfamiPF01266. DAO. 1 hit.
PF01571. GCV_T. 1 hit.
PF08669. GCV_T_C. 1 hit.
[Graphical view]
SUPFAMiSSF101790. SSF101790. 1 hit.

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

Q9UL12-1 [UniParc]FASTAAdd to Basket

« Hide

MASLSRALRV AAAHPRQSPT RGMGPCNLSS AAGPTAEKSV PYQRTLKEGQ    50
GTSVVAQGPS RPLPSTANVV VIGGGSLGCQ TLYHLAKLGM SGAVLLERER 100
LTSGTTWHTA GLLWQLRPSD VEVELLAHTR RVVSRELEEE TGLHTGWIQN 150
GGLFIASNRQ RLDEYKRLMS LGKAYGVESH VLSPAETKTL YPLMNVDDLY 200
GTLYVPHDGT MDPAGTCTTL ARAASARGAQ VIENCPVTGI RVWTDDFGVR 250
RVAGVETQHG SIQTPCVVNC AGVWASAVGR MAGVKVPLVA MHHAYVVTER 300
IEGIQNMPNV RDHDASVYLR LQGDALSVGG YEANPIFWEE VSDKFAFGLF 350
DLDWEVFTQH IEGAINRVPV LEKTGIKSTV CGPESFTPDH KPLMGEAPEL 400
RGFFLGCGFN SAGMMLGGGC GQELAHWIIH GRPEKDMHGY DIRRFHHSLT 450
DHPRWIRERS HESYAKNYSV VFPHDEPLAG RNMRRDPLHE ELLGQGCVFQ 500
ERHGWERPGW FHPRGPAPVL EYDYYGAYGS RAHEDYAYRR LLADEYTFAF 550
PPHHDTIKKE CLACRGAAAV FDMSYFGKFY LVGLDARKAA DWLFSADVSR 600
PPGSTVYTCM LNHRGGTESD LTVSRLAPSH QASPLAPAFE GDGYYLAMGG 650
AVAQHNWSHI TTVLQDQKSQ CQLIDSSEDL GMISIQGPAS RAILQEVLDA 700
DLSNEAFPFS THKLLRAAGH LVRAMRLSFV GELGWELHIP KASCVPVYRA 750
VMAAGAKHGL INAGYRAIDS LSIEKGYRHW HADLRPDDSP LEAGLAFTCK 800
LKSPVPFLGR EALEQQRAAG LRRRLVCFTM EDKVPMFGLE AIWRNGQVVG 850
HVRRADFGFA IDKTIAYGYI HDPSGGPVSL DFVKSGDYAL ERMGVTYGAQ 900
AHLKSPFDPN NKRVKGIY 918
Length:918
Mass (Da):101,037
Last modified:May 1, 2000 - v1
Checksum:i4ADA132D5F44B37A
GO

Sequence cautioni

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

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti22 – 221G → C.
Corresponds to variant rs35559818 [ dbSNP | Ensembl ].
VAR_039077
Natural varianti71 – 711V → F in SARCOS. 1 Publication
VAR_069272
Natural varianti287 – 2871P → L in SARCOS. 1 Publication
Corresponds to variant rs149481147 [ dbSNP | Ensembl ].
VAR_069273
Natural varianti372 – 3721E → D.
Corresponds to variant rs35218200 [ dbSNP | Ensembl ].
VAR_039078
Natural varianti614 – 6141R → H.2 Publications
Corresponds to variant rs2073817 [ dbSNP | Ensembl ].
VAR_019687
Natural varianti648 – 6481M → V.1 Publication
Corresponds to variant rs886016 [ dbSNP | Ensembl ].
VAR_019688

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF095735 mRNA. Translation: AAD53398.2.
AF162428 mRNA. Translation: AAD43585.1.
AF140745
, 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.
CCDSiCCDS6978.1.
RefSeqiNP_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.
UniGeneiHs.198003.

Genome annotation databases

EnsembliENST00000371872; ENSP00000360938; ENSG00000123453.
ENST00000439388; ENSP00000403084; ENSG00000123453.
GeneIDi1757.
KEGGihsa:1757.
UCSCiuc004ceo.3. human.

Polymorphism databases

DMDMi52000845.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF095735 mRNA. Translation: AAD53398.2 .
AF162428 mRNA. Translation: AAD43585.1 .
AF140745
, 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.
CCDSi CCDS6978.1.
RefSeqi NP_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.
UniGenei Hs.198003.

3D structure databases

ProteinModelPortali Q9UL12.
SMRi Q9UL12. Positions 66-445, 478-852.
ModBasei Search...

Protein-protein interaction databases

BioGridi 108097. 2 interactions.
STRINGi 9606.ENSP00000360938.

PTM databases

PhosphoSitei Q9UL12.

Polymorphism databases

DMDMi 52000845.

Proteomic databases

MaxQBi Q9UL12.
PaxDbi Q9UL12.
PRIDEi Q9UL12.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000371872 ; ENSP00000360938 ; ENSG00000123453 .
ENST00000439388 ; ENSP00000403084 ; ENSG00000123453 .
GeneIDi 1757.
KEGGi hsa:1757.
UCSCi uc004ceo.3. human.

Organism-specific databases

CTDi 1757.
GeneCardsi GC09M136528.
H-InvDB HIX0079029.
HGNCi HGNC:10536. SARDH.
HPAi HPA057267.
HPA058086.
MIMi 268900. phenotype.
604455. gene.
neXtProti NX_Q9UL12.
Orphaneti 3129. Sarcosinemia.
PharmGKBi PA34944.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0665.
HOGENOMi HOG000251716.
HOVERGENi HBG002326.
InParanoidi Q9UL12.
KOi K00314.
OMAi AIWRNGQ.
OrthoDBi EOG7W1533.
PhylomeDBi Q9UL12.
TreeFami TF314735.

Enzyme and pathway databases

UniPathwayi UPA00292 ; UER00398 .
BioCyci MetaCyc:HS04663-MONOMER.

Miscellaneous databases

GeneWikii SARDH.
GenomeRNAii 1757.
NextBioi 7153.
PROi Q9UL12.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q9UL12.
Bgeei Q9UL12.
CleanExi HS_SARDH.
Genevestigatori Q9UL12.

Family and domain databases

Gene3Di 2.40.30.110. 1 hit.
3.30.1360.120. 3 hits.
InterProi IPR006076. FAD-dep_OxRdtase.
IPR013977. GCV_T_C.
IPR006222. GCV_T_N.
IPR029043. GcvT/YgfZ_C.
IPR027266. TrmE/GcvT_dom1.
[Graphical view ]
Pfami PF01266. DAO. 1 hit.
PF01571. GCV_T. 1 hit.
PF08669. GCV_T_C. 1 hit.
[Graphical view ]
SUPFAMi SSF101790. SSF101790. 1 hit.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.
    , 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. 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. Cited for: VARIANTS SARCOS PHE-71 AND LEU-287.

Entry informationi

Entry nameiSARDH_HUMAN
AccessioniPrimary (citable) accession number: Q9UL12
Secondary accession number(s): B2RMR5
, B7ZLT6, Q5SYV0, Q9Y280, Q9Y2Y3
Entry historyi
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 statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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