Reviewed,
UniProtKB/Swiss-Prot Q9UL12 (SARDH_HUMAN)
Last modified
November 4, 2008.
Version 56.
History...
Clusters with 100%,
90%,
50% identity |
Documents (7) |
Third-party data |
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Names and origin
| Protein names | Recommended name: Sarcosine dehydrogenase, mitochondrial Short name=SarDH EC=1.5.99.1 Alternative name(s): BPR-2 | ||||
| Gene names |
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| Organism | Homo sapiens (Human) | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › 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 + acceptor + H(2)O = glycine + formaldehyde + reduced acceptor. |
| Cofactor | Binds 1 FAD covalently per monomer By similarity. |
| Pathway | |
| Subcellular location | Mitochondrion matrixBy similarity. |
| Involvement in disease | Defects in SARDH are a ause of sarcosinemia [MIM:268900]. Sarcosinemia is a 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. |
| 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 |
Gene Ontology (GO) | |
| Cellular component | mitochondrion Inferred from sequence or structural similarity. Source: UniProtKB |
| Complete GO annotation... | |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Transit peptide | 1 – ? | Mitochondrion Potential | |||||||
| Chain | ? – 918 | Sarcosine dehydrogenase, mitochondrial | PRO_0000010770 | ||||||
Amino acid modifications | |||||||||
| Modified residue | 108 | 1 | Tele-8alpha-FAD histidine By similarity | ||||||
| Modified residue | 777 | 1 | Phosphotyrosine | ||||||
| Modified residue | 884 | 1 | N6-acetyllysine By similarity | ||||||
Natural variations | |||||||||
| Natural variant | 22 | 1 | G → C: dbSNP rs35559818. | VAR_039077 | |||||
| Natural variant | 372 | 1 | E → D: dbSNP rs35218200. | VAR_039078 | |||||
| Natural variant | 614 | 1 | R → H: dbSNP rs2073817. | VAR_019687 | |||||
| Natural variant | 648 | 1 | M → V: dbSNP rs886016. | VAR_019688 | |||||
Sequences
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References
| « Hide '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: 10444331] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], INVOLVEMENT IN SARCOSINEMIA. 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. Dunham I.Nature 429:369-374(2004) [PubMed: 15164053] [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. Venter J.C.Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [5] | "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: 10686491] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 239-882, VARIANTS HIS-614 AND VAL-648. Tissue: Brain. |
| [6] | "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: 17693683] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT TYR-777, MASS SPECTROMETRY. |
Cross-references
Sequence databases | |
|---|---|
| AF095735 mRNA. Translation: AAD53398.2. AF162428 mRNA. Translation: AAD43585.1. AF140745 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. AF129265 mRNA. Translation: AAD33412.1. Frameshift. | |
| RefSeq | NP_001128179.1. NP_009032.2. |
| UniGene | Hs.198003 |
3D structure databases | |
| ModBase | Search... |
PTM databases | |
| PhosphoSite | Q9UL12. |
Genome annotation databases | |
| Ensembl | ENSG00000123453. Homo sapiens. [Contig view] |
| GeneID | 1757. |
| KEGG | hsa:1757. |
Organism-specific databases | |
| H-InvDB | HIX0008511. HIX0079029. |
| HGNC | HGNC:10536. SARDH. |
| MIM | 268900. phenotype. 604455. gene. |
| Orphanet | 3129. Sarcosinemia. |
| PharmGKB | PA34944. |
| GenAtlas | Search... |
| GeneCards | Search... |
Phylogenomic databases | |
| HOGENOM | Q9UL12. |
| HOVERGEN | Q9UL12. |
Gene expression databases | |
| ArrayExpress | Q9UL12. |
| CleanEx | HS_SARDH. |
| GermOnline | ENSG00000123453. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR006076. FAD-dep_OxRdtase. IPR013977. GCV_T_C. IPR006222. GCV_T_N. [Graphical view] |
| Pfam | PF01266. DAO. 1 hit. PF01571. GCV_T. 1 hit. PF08669. GCV_T_C. 1 hit. [Graphical view] |
| BLOCKS | Search... |
| ProtoNet | Search... |
Other Resources | |
| NextBio | 7153. |
| SOURCE | Search... |
Entry information
| Entry name | SARDH_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q9UL12 Secondary accession number(s): Q5SYV0, Q9Y280, Q9Y2Y3 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
Relevant documents
| Human chromosome 9 Human chromosome 9: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| 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 |
| UniProtKB secondary accession numbers Index of UniProtKB secondary accession numbers |
| SIMILARITY comments Index of protein domains and families |

Clusters with


