UniProtKB - Q9UL12 (SARDH_HUMAN)
Protein
Sarcosine dehydrogenase, mitochondrial
Gene
SARDH
Organism
Homo sapiens (Human)
Status
Functioni
Catalytic activityi
- H+ + H2O + oxidized [electron-transfer flavoprotein] + sarcosine = formaldehyde + glycine + reduced [electron-transfer flavoprotein]EC:1.5.8.3
Cofactori
FADBy similarityNote: Binds 1 FAD covalently per monomer.By similarity
: sarcosine degradation Pathwayi
This protein is involved in step 1 of the subpathway that synthesizes formaldehyde and glycine from sarcosine.Proteins known to be involved in this subpathway in this organism are:
- Sarcosine dehydrogenase, mitochondrial (SARDH)
View all proteins of this organism that are known to be involved in the subpathway that synthesizes formaldehyde and glycine from sarcosine, the pathway sarcosine degradation and in Amine and polyamine degradation.
GO - Molecular functioni
- oxidoreductase activity Source: GO_Central
- sarcosine dehydrogenase activity Source: GO_Central
GO - Biological processi
- choline catabolic process Source: Reactome
- sarcosine catabolic process Source: GO_Central
Keywordsi
Molecular function | Oxidoreductase |
Ligand | FAD, Flavoprotein |
Enzyme and pathway databases
BioCyci | MetaCyc:HS04663-MONOMER |
PathwayCommonsi | Q9UL12 |
Reactomei | R-HSA-6798163, Choline catabolism |
UniPathwayi | UPA00292;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 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000123453.16 |
HGNCi | HGNC:10536, SARDH |
MIMi | 604455, gene |
neXtProti | NX_Q9UL12 |
Subcellular locationi
Mitochondrion
- Mitochondrion matrix By similarity
Mitochondrion
- mitochondrial matrix Source: GO_Central
- mitochondrion Source: UniProtKB
Other locations
- cytoplasm Source: GO_Central
Keywords - Cellular componenti
MitochondrionPathology & Biotechi
Involvement in diseasei
Sarcosinemia (SARCOS)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_069272 | 71 | V → F in SARCOS. 1 PublicationCorresponds to variant dbSNP:rs397514504EnsemblClinVar. | 1 | |
Natural variantiVAR_069273 | 287 | P → L in SARCOS. 1 PublicationCorresponds to variant dbSNP:rs149481147EnsemblClinVar. | 1 |
Keywords - Diseasei
Disease mutationOrganism-specific databases
DisGeNETi | 1757 |
MalaCardsi | SARDH |
MIMi | 268900, phenotype |
OpenTargetsi | ENSG00000123453 |
Orphaneti | 3129, Sarcosinemia |
PharmGKBi | PA34944 |
Miscellaneous databases
Pharosi | Q9UL12, Tbio |
Polymorphism and mutation databases
BioMutai | SARDH |
DMDMi | 52000845 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Transit peptidei | 1 – 22 | MitochondrionSequence analysisAdd BLAST | 22 | |
ChainiPRO_0000010770 | 23 – 918 | Sarcosine dehydrogenase, mitochondrialAdd BLAST | 896 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 38 | N6-succinyllysineBy similarity | 1 | |
Modified residuei | 108 | Tele-8alpha-FAD histidineBy similarity | 1 | |
Modified residuei | 173 | N6-acetyllysine; alternateBy similarity | 1 | |
Modified residuei | 173 | N6-succinyllysine; alternateBy similarity | 1 | |
Modified residuei | 377 | N6-succinyllysineBy similarity | 1 | |
Modified residuei | 391 | N6-succinyllysineBy similarity | 1 | |
Modified residuei | 559 | N6-acetyllysineBy similarity | 1 | |
Modified residuei | 775 | N6-acetyllysineBy similarity | 1 | |
Modified residuei | 777 | PhosphotyrosineCombined sources | 1 | |
Modified residuei | 802 | N6-acetyllysine; alternateBy similarity | 1 | |
Modified residuei | 802 | N6-succinyllysine; alternateBy similarity | 1 | |
Modified residuei | 884 | N6-acetyllysine; alternateBy similarity | 1 | |
Modified residuei | 884 | N6-succinyllysine; alternateBy similarity | 1 | |
Modified residuei | 904 | N6-acetyllysine; alternateBy similarity | 1 | |
Modified residuei | 904 | N6-succinyllysine; alternateBy similarity | 1 |
Keywords - PTMi
Acetylation, PhosphoproteinProteomic databases
EPDi | Q9UL12 |
jPOSTi | Q9UL12 |
MassIVEi | Q9UL12 |
PaxDbi | Q9UL12 |
PeptideAtlasi | Q9UL12 |
PRIDEi | Q9UL12 |
ProteomicsDBi | 4788 84926 [Q9UL12-1] |
PTM databases
iPTMneti | Q9UL12 |
PhosphoSitePlusi | Q9UL12 |
Expressioni
Gene expression databases
Bgeei | ENSG00000123453, Expressed in right lobe of liver and 137 other tissues |
ExpressionAtlasi | Q9UL12, baseline and differential |
Genevisiblei | Q9UL12, HS |
Organism-specific databases
HPAi | ENSG00000123453, Group enriched (epididymis, liver, pancreas) |
Interactioni
Protein-protein interaction databases
BioGRIDi | 108097, 3 interactors |
IntActi | Q9UL12, 2 interactors |
STRINGi | 9606.ENSP00000360938 |
Miscellaneous databases
RNActi | Q9UL12, protein |
Family & Domainsi
Sequence similaritiesi
Belongs to the GcvT family.Curated
Keywords - Domaini
Transit peptidePhylogenomic databases
eggNOGi | KOG2844, Eukaryota |
GeneTreei | ENSGT00940000157589 |
HOGENOMi | CLU_007884_11_4_1 |
InParanoidi | Q9UL12 |
OMAi | PMKHAYI |
PhylomeDBi | Q9UL12 |
TreeFami | TF314735 |
Family and domain databases
Gene3Di | 3.30.1360.120, 1 hit 3.50.50.60, 1 hit |
InterProi | View protein in InterPro IPR006076, FAD-dep_OxRdtase IPR036188, FAD/NAD-bd_sf IPR032503, FAO_M IPR013977, GCV_T_C IPR006222, GCV_T_N IPR029043, GcvT/YgfZ_C IPR027266, TrmE/GcvT_dom1 |
Pfami | View protein in Pfam PF01266, DAO, 1 hit PF16350, FAO_M, 1 hit PF01571, GCV_T, 1 hit PF08669, GCV_T_C, 1 hit |
SUPFAMi | SSF101790, SSF101790, 1 hit SSF51905, SSF51905, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: Q9UL12-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MASLSRALRV AAAHPRQSPT RGMGPCNLSS AAGPTAEKSV PYQRTLKEGQ
60 70 80 90 100
GTSVVAQGPS RPLPSTANVV VIGGGSLGCQ TLYHLAKLGM SGAVLLERER
110 120 130 140 150
LTSGTTWHTA GLLWQLRPSD VEVELLAHTR RVVSRELEEE TGLHTGWIQN
160 170 180 190 200
GGLFIASNRQ RLDEYKRLMS LGKAYGVESH VLSPAETKTL YPLMNVDDLY
210 220 230 240 250
GTLYVPHDGT MDPAGTCTTL ARAASARGAQ VIENCPVTGI RVWTDDFGVR
260 270 280 290 300
RVAGVETQHG SIQTPCVVNC AGVWASAVGR MAGVKVPLVA MHHAYVVTER
310 320 330 340 350
IEGIQNMPNV RDHDASVYLR LQGDALSVGG YEANPIFWEE VSDKFAFGLF
360 370 380 390 400
DLDWEVFTQH IEGAINRVPV LEKTGIKSTV CGPESFTPDH KPLMGEAPEL
410 420 430 440 450
RGFFLGCGFN SAGMMLGGGC GQELAHWIIH GRPEKDMHGY DIRRFHHSLT
460 470 480 490 500
DHPRWIRERS HESYAKNYSV VFPHDEPLAG RNMRRDPLHE ELLGQGCVFQ
510 520 530 540 550
ERHGWERPGW FHPRGPAPVL EYDYYGAYGS RAHEDYAYRR LLADEYTFAF
560 570 580 590 600
PPHHDTIKKE CLACRGAAAV FDMSYFGKFY LVGLDARKAA DWLFSADVSR
610 620 630 640 650
PPGSTVYTCM LNHRGGTESD LTVSRLAPSH QASPLAPAFE GDGYYLAMGG
660 670 680 690 700
AVAQHNWSHI TTVLQDQKSQ CQLIDSSEDL GMISIQGPAS RAILQEVLDA
710 720 730 740 750
DLSNEAFPFS THKLLRAAGH LVRAMRLSFV GELGWELHIP KASCVPVYRA
760 770 780 790 800
VMAAGAKHGL INAGYRAIDS LSIEKGYRHW HADLRPDDSP LEAGLAFTCK
810 820 830 840 850
LKSPVPFLGR EALEQQRAAG LRRRLVCFTM EDKVPMFGLE AIWRNGQVVG
860 870 880 890 900
HVRRADFGFA IDKTIAYGYI HDPSGGPVSL DFVKSGDYAL ERMGVTYGAQ
910
AHLKSPFDPN NKRVKGIY
Computationally mapped potential isoform sequencesi
There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketQ9UL10 | Q9UL10_HUMAN | Sarcosine dehydrogenase, isoform CR... | SARDH hCG_1640945 | 396 | Annotation score: | ||
Q5SYV2 | Q5SYV2_HUMAN | Sarcosine dehydrogenase, mitochondr... | SARDH | 368 | Annotation score: | ||
A0A0A0MT55 | A0A0A0MT55_HUMAN | Sarcosine dehydrogenase, mitochondr... | SARDH | 602 | Annotation score: | ||
Q5SYV1 | Q5SYV1_HUMAN | Sarcosine dehydrogenase, mitochondr... | SARDH | 608 | Annotation score: | ||
Q5SYU9 | Q5SYU9_HUMAN | Sarcosine dehydrogenase, mitochondr... | SARDH | 283 | Annotation score: |
Sequence cautioni
The sequence AAD33412 differs from that shown. Reason: Frameshift.Curated
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_039077 | 22 | G → C. Corresponds to variant dbSNP:rs35559818Ensembl. | 1 | |
Natural variantiVAR_069272 | 71 | V → F in SARCOS. 1 PublicationCorresponds to variant dbSNP:rs397514504EnsemblClinVar. | 1 | |
Natural variantiVAR_069273 | 287 | P → L in SARCOS. 1 PublicationCorresponds to variant dbSNP:rs149481147EnsemblClinVar. | 1 | |
Natural variantiVAR_039078 | 372 | E → D. Corresponds to variant dbSNP:rs35218200Ensembl. | 1 | |
Natural variantiVAR_019687 | 614 | R → H2 PublicationsCorresponds to variant dbSNP:rs2073817Ensembl. | 1 | |
Natural variantiVAR_019688 | 648 | M → V1 PublicationCorresponds to variant dbSNP:rs886016Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_056309 | 1 – 168 | Missing in isoform 2. 1 PublicationAdd BLAST | 168 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi 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 AK298348 mRNA Translation: BAG60594.1 AK316494 mRNA Translation: BAH14865.1 AL365494 Genomic DNA No translation available. AL590710 Genomic DNA No translation available. 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 [Q9UL12-1] |
RefSeqi | NP_001128179.1, NM_001134707.1 [Q9UL12-1] NP_009032.2, NM_007101.3 [Q9UL12-1] |
Genome annotation databases
Ensembli | ENST00000371872; ENSP00000360938; ENSG00000123453 [Q9UL12-1] ENST00000439388; ENSP00000403084; ENSG00000123453 [Q9UL12-1] |
GeneIDi | 1757 |
KEGGi | hsa:1757 |
UCSCi | uc004ceo.4, human [Q9UL12-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi 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 AK298348 mRNA Translation: BAG60594.1 AK316494 mRNA Translation: BAH14865.1 AL365494 Genomic DNA No translation available. AL590710 Genomic DNA No translation available. 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 [Q9UL12-1] |
RefSeqi | NP_001128179.1, NM_001134707.1 [Q9UL12-1] NP_009032.2, NM_007101.3 [Q9UL12-1] |
3D structure databases
SMRi | Q9UL12 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 108097, 3 interactors |
IntActi | Q9UL12, 2 interactors |
STRINGi | 9606.ENSP00000360938 |
PTM databases
iPTMneti | Q9UL12 |
PhosphoSitePlusi | Q9UL12 |
Polymorphism and mutation databases
BioMutai | SARDH |
DMDMi | 52000845 |
Proteomic databases
EPDi | Q9UL12 |
jPOSTi | Q9UL12 |
MassIVEi | Q9UL12 |
PaxDbi | Q9UL12 |
PeptideAtlasi | Q9UL12 |
PRIDEi | Q9UL12 |
ProteomicsDBi | 4788 84926 [Q9UL12-1] |
Protocols and materials databases
Antibodypediai | 31926, 57 antibodies |
Genome annotation databases
Ensembli | ENST00000371872; ENSP00000360938; ENSG00000123453 [Q9UL12-1] ENST00000439388; ENSP00000403084; ENSG00000123453 [Q9UL12-1] |
GeneIDi | 1757 |
KEGGi | hsa:1757 |
UCSCi | uc004ceo.4, human [Q9UL12-1] |
Organism-specific databases
CTDi | 1757 |
DisGeNETi | 1757 |
EuPathDBi | HostDB:ENSG00000123453.16 |
GeneCardsi | SARDH |
HGNCi | HGNC:10536, SARDH |
HPAi | ENSG00000123453, Group enriched (epididymis, liver, pancreas) |
MalaCardsi | SARDH |
MIMi | 268900, phenotype 604455, gene |
neXtProti | NX_Q9UL12 |
OpenTargetsi | ENSG00000123453 |
Orphaneti | 3129, Sarcosinemia |
PharmGKBi | PA34944 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG2844, Eukaryota |
GeneTreei | ENSGT00940000157589 |
HOGENOMi | CLU_007884_11_4_1 |
InParanoidi | Q9UL12 |
OMAi | PMKHAYI |
PhylomeDBi | Q9UL12 |
TreeFami | TF314735 |
Enzyme and pathway databases
UniPathwayi | UPA00292;UER00398 |
BioCyci | MetaCyc:HS04663-MONOMER |
PathwayCommonsi | Q9UL12 |
Reactomei | R-HSA-6798163, Choline catabolism |
Miscellaneous databases
BioGRID-ORCSi | 1757, 6 hits in 841 CRISPR screens |
ChiTaRSi | SARDH, human |
GeneWikii | SARDH |
GenomeRNAii | 1757 |
Pharosi | Q9UL12, Tbio |
PROi | PR:Q9UL12 |
RNActi | Q9UL12, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000123453, Expressed in right lobe of liver and 137 other tissues |
ExpressionAtlasi | Q9UL12, baseline and differential |
Genevisiblei | Q9UL12, HS |
Family and domain databases
Gene3Di | 3.30.1360.120, 1 hit 3.50.50.60, 1 hit |
InterProi | View protein in InterPro IPR006076, FAD-dep_OxRdtase IPR036188, FAD/NAD-bd_sf IPR032503, FAO_M IPR013977, GCV_T_C IPR006222, GCV_T_N IPR029043, GcvT/YgfZ_C IPR027266, TrmE/GcvT_dom1 |
Pfami | View protein in Pfam PF01266, DAO, 1 hit PF16350, FAO_M, 1 hit PF01571, GCV_T, 1 hit PF08669, GCV_T_C, 1 hit |
SUPFAMi | SSF101790, SSF101790, 1 hit SSF51905, SSF51905, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | SARDH_HUMAN | |
Accessioni | Q9UL12Primary (citable) accession number: Q9UL12 Secondary accession number(s): B2RMR5 Q9Y2Y3 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | September 13, 2004 |
Last sequence update: | May 1, 2000 | |
Last modified: | December 2, 2020 | |
This is version 155 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- Human chromosome 9
Human chromosome 9: entries, gene names and cross-references to MIM - 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 - SIMILARITY comments
Index of protein domains and families - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations