Q9UL12 (SARDH_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Sarcosine dehydrogenase, mitochondrial
Short name=SarDH
EC=1.5.8.3

Alternative name(s):
BPR-2

Gene names

Name:	SARDH
Synonyms:	DMGDHL1

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	918 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level

General annotation (Comments)

Catalytic activity	Sarcosine + H2O + electron-transfer flavoprotein = glycine + formaldehyde + reduced electron-transfer flavoprotein.
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 matrix By similarity.
Involvement in disease	Sarcosinemia (SAR) [MIM:268900]: 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. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.1
Sequence similarities	Belongs to the GcvT family.
Sequence caution	The sequence AAD33412.1 differs from that shown. Reason: Frameshift at position 867.

Ontologies

Keywords
Cellular component	Mitochondrion
Coding sequence diversity	Polymorphism
Domain	Transit peptide
Ligand	FAD Flavoprotein
Molecular function	Oxidoreductase
PTM	Acetylation Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	glycine catabolic process Inferred from electronic annotation. Source: InterPro
Cellular_component	mitochondrial matrix Inferred from electronic annotation. Source: UniProtKB-SubCell mitochondrion Inferred from sequence or structural similarity. Source: UniProtKB
Molecular_function	aminomethyltransferase activity Inferred from electronic annotation. Source: InterPro sarcosine dehydrogenase activity Inferred from electronic annotation. Source: EC
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Transit peptide	1 – 22	22	Mitochondrion Potential
	Chain	23 – 918	896	Sarcosine dehydrogenase, mitochondrial		PRO_0000010770
Amino acid modifications
	Modified residue	108	1	Tele-8alpha-FAD histidine By similarity
	Modified residue	777	1	Phosphotyrosine Ref.7
	Modified residue	884	1	N6-acetyllysine By similarity
Natural variations
	Natural variant	22	1	G → C. Corresponds to variant rs35559818 [ dbSNP | Ensembl ].		VAR_039077
	Natural variant	372	1	E → D. Corresponds to variant rs35218200 [ dbSNP | Ensembl ].		VAR_039078
	Natural variant	614	1	R → H. Ref.5 Ref.6 Corresponds to variant rs2073817 [ dbSNP | Ensembl ].		VAR_019687
	Natural variant	648	1	M → V. Ref.6 Corresponds to variant rs886016 [ dbSNP | Ensembl ].		VAR_019688

Sequences

	Sequence		Length	Mass (Da)
	Q9UL12 [UniParc]. Last modified May 1, 2000. Version 1. Checksum: 4ADA132D5F44B37A	FASTA	918	101,037
	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

References

	« Hide 'large scale' referencesShow '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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], POTENTIAL TRANSIT PEPTIDE, INVOLVEMENT IN SAR. 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]	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 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, MASS SPECTROMETRY. Tissue: Embryonic kidney.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	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.
IPI	IPI00034308.
RefSeq	NP_001128179.1. NM_001134707.1. NP_009032.2. NM_007101.3.
UniGene	Hs.198003.
3D structure databases
ProteinModelPortal	Q9UL12.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000360938.
PTM databases
PhosphoSite	Q9UL12.
Polymorphism databases
DMDM	52000845.
Proteomic databases
PaxDb	Q9UL12.
PRIDE	Q9UL12.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000371872; ENSP00000360938; ENSG00000123453. ENST00000439388; ENSP00000403084; ENSG00000123453.
GeneID	1757.
KEGG	hsa:1757.
UCSC	uc004ceo.3. human.
Organism-specific databases
CTD	1757.
GeneCards	GC09M136528.
H-InvDB	HIX0079029.
HGNC	HGNC:10536. SARDH.
MIM	268900. phenotype. 604455. gene.
neXtProt	NX_Q9UL12.
Orphanet	3129. Sarcosinemia.
PharmGKB	PA34944.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG0665.
HOGENOM	HOG000251716.
HOVERGEN	HBG002326.
InParanoid	Q9UL12.
KO	K00314.
OMA	PHHDVIK.
OrthoDB	EOG4XKV66.
PhylomeDB	Q9UL12.
Enzyme and pathway databases
UniPathway	UPA00292; UER00398.
Gene expression databases
ArrayExpress	Q9UL12.
Bgee	Q9UL12.
CleanEx	HS_SARDH.
Genevestigator	Q9UL12.
GermOnline	ENSG00000123453. Homo sapiens.
Family and domain databases
Gene3D	3.30.1360.120. 3 hits.
InterPro	IPR006076. FAD-dep_OxRdtase. IPR013977. GCV_T_C. IPR006222. GCV_T_N. IPR027266. TrmE/GcvT_dom1. [Graphical view]
Pfam	PF01266. DAO. 1 hit. PF01571. GCV_T. 1 hit. PF08669. GCV_T_C. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	1757.
NextBio	7153.
SOURCE	Search...

Entry information

Entry name

SARDH_HUMAN

Accession

Primary (citable) accession number: Q9UL12
Secondary accession number(s): B2RMR5 , B7ZLT6, Q5SYV0, Q9Y280, Q9Y2Y3

Entry history

Integrated into UniProtKB/Swiss-Prot:	September 13, 2004
Last sequence update:	May 1, 2000
Last modified:	May 1, 2013
This is version 97 of the entry and version 1 of the sequence. [Complete history]

Entry status

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.