Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Sarcosine dehydrogenase, mitochondrial

Gene

SARDH

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Catalytic activityi

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

Cofactori

FADBy similarityNote: Binds 1 FAD covalently per monomer.By similarity

Pathwayi: sarcosine degradation

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:
  1. Sarcosine dehydrogenase, mitochondrial (SARDH)
This subpathway is part of the pathway sarcosine degradation, which is itself part of Amine and polyamine degradation.
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

GO - Biological processi

Keywordsi

Molecular functionOxidoreductase
LigandFAD, Flavoprotein

Enzyme and pathway databases

BioCyciMetaCyc:HS04663-MONOMER
ReactomeiR-HSA-6798163 Choline catabolism
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
Proteomesi
  • UP000005640 Componenti: Chromosome 9

Organism-specific databases

EuPathDBiHostDB:ENSG00000123453.16
HGNCiHGNC:10536 SARDH
MIMi604455 gene
neXtProtiNX_Q9UL12

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Mitochondrion

Pathology & 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.
See also OMIM:268900
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06927271V → F in SARCOS. 1 PublicationCorresponds to variant dbSNP:rs397514504EnsemblClinVar.1
Natural variantiVAR_069273287P → L in SARCOS. 1 PublicationCorresponds to variant dbSNP:rs149481147EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi1757
MalaCardsiSARDH
MIMi268900 phenotype
OpenTargetsiENSG00000123453
Orphaneti3129 Sarcosinemia
PharmGKBiPA34944

Polymorphism and mutation databases

BioMutaiSARDH
DMDMi52000845

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transit peptidei1 – 22MitochondrionSequence analysisAdd BLAST22
ChainiPRO_000001077023 – 918Sarcosine dehydrogenase, mitochondrialAdd BLAST896

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei38N6-succinyllysineBy similarity1
Modified residuei108Tele-8alpha-FAD histidineBy similarity1
Modified residuei173N6-acetyllysine; alternateBy similarity1
Modified residuei173N6-succinyllysine; alternateBy similarity1
Modified residuei377N6-succinyllysineBy similarity1
Modified residuei391N6-succinyllysineBy similarity1
Modified residuei559N6-acetyllysineBy similarity1
Modified residuei775N6-acetyllysineBy similarity1
Modified residuei777PhosphotyrosineCombined sources1
Modified residuei802N6-acetyllysine; alternateBy similarity1
Modified residuei802N6-succinyllysine; alternateBy similarity1
Modified residuei884N6-acetyllysine; alternateBy similarity1
Modified residuei884N6-succinyllysine; alternateBy similarity1
Modified residuei904N6-acetyllysine; alternateBy similarity1
Modified residuei904N6-succinyllysine; alternateBy similarity1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiQ9UL12
PaxDbiQ9UL12
PeptideAtlasiQ9UL12
PRIDEiQ9UL12

PTM databases

iPTMnetiQ9UL12
PhosphoSitePlusiQ9UL12

Expressioni

Gene expression databases

BgeeiENSG00000123453
CleanExiHS_SARDH
ExpressionAtlasiQ9UL12 baseline and differential
GenevisibleiQ9UL12 HS

Organism-specific databases

HPAiHPA057267
HPA058086

Interactioni

Protein-protein interaction databases

BioGridi108097, 2 interactors
STRINGi9606.ENSP00000360938

Structurei

3D structure databases

ProteinModelPortaliQ9UL12
SMRiQ9UL12
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the GcvT family.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiKOG2844 Eukaryota
COG0404 LUCA
GeneTreeiENSGT00530000063120
HOGENOMiHOG000251716
HOVERGENiHBG002326
InParanoidiQ9UL12
KOiK00314
OMAiPMKHAYI
OrthoDBiEOG091G01QG
PhylomeDBiQ9UL12
TreeFamiTF314735

Family and domain databases

Gene3Di3.30.1360.120, 2 hits
3.50.50.60, 3 hits
InterProiView 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
PfamiView protein in Pfam
PF01266 DAO, 1 hit
PF16350 FAO_M, 1 hit
PF01571 GCV_T, 1 hit
PF08669 GCV_T_C, 1 hit
SUPFAMiSSF101790 SSF101790, 1 hit
SSF51905 SSF51905, 2 hits

Sequences (2)i

Sequence statusi: Complete.

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

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9UL12-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        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
Length:918
Mass (Da):101,037
Last modified:May 1, 2000 - v1
Checksum:i4ADA132D5F44B37A
GO
Isoform 2 (identifier: Q9UL12-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-168: Missing.

Note: No experimental confirmation available.
Show »
Length:750
Mass (Da):82,962
Checksum:i80F4539F88849319
GO

Sequence cautioni

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

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03907722G → C. Corresponds to variant dbSNP:rs35559818Ensembl.1
Natural variantiVAR_06927271V → F in SARCOS. 1 PublicationCorresponds to variant dbSNP:rs397514504EnsemblClinVar.1
Natural variantiVAR_069273287P → L in SARCOS. 1 PublicationCorresponds to variant dbSNP:rs149481147EnsemblClinVar.1
Natural variantiVAR_039078372E → D. Corresponds to variant dbSNP:rs35218200Ensembl.1
Natural variantiVAR_019687614R → H2 PublicationsCorresponds to variant dbSNP:rs2073817Ensembl.1
Natural variantiVAR_019688648M → V1 PublicationCorresponds to variant dbSNP:rs886016Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0563091 – 168Missing in isoform 2. 1 PublicationAdd BLAST168

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.
CCDSiCCDS6978.1 [Q9UL12-1]
RefSeqiNP_001128179.1, NM_001134707.1 [Q9UL12-1]
NP_009032.2, NM_007101.3 [Q9UL12-1]
UniGeneiHs.198003

Genome annotation databases

EnsembliENST00000371872; ENSP00000360938; ENSG00000123453 [Q9UL12-1]
ENST00000439388; ENSP00000403084; ENSG00000123453 [Q9UL12-1]
GeneIDi1757
KEGGihsa:1757
UCSCiuc004ceo.4 human [Q9UL12-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiSARDH_HUMAN
AccessioniPrimary (citable) accession number: Q9UL12
Secondary accession number(s): B2RMR5
, B4DPI2, B7ZLT6, Q5SYV0, Q9Y280, Q9Y2Y3
Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 13, 2004
Last sequence update: May 1, 2000
Last modified: May 23, 2018
This is version 139 of the entry and version 1 of the sequence. See 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

Cookie policy

We would like to use anonymized google analytics cookies to gather statistics on how uniprot.org is used in aggregate. Learn more

UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health