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Entry version 146 (08 May 2019)
Sequence version 1 (01 May 2000)
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Protein

Sarcosine dehydrogenase, mitochondrial

Gene

SARDH

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the ‘Function’ section provides information relevant to cofactors. A cofactor is any non-protein substance required for a protein to be catalytically active. Some cofactors are inorganic, such as the metal atoms zinc, iron, and copper in various oxidation states. Others, such as most vitamins, are organic.<p><a href='/help/cofactor' target='_top'>More...</a></p>Cofactori

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

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>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.

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionOxidoreductase
LigandFAD, Flavoprotein

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

More...
BioCyci
MetaCyc:HS04663-MONOMER

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-6798163 Choline catabolism

UniPathway: a resource for the exploration and annotation of metabolic pathways

More...
UniPathwayi
UPA00292;UER00398

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Sarcosine dehydrogenase, mitochondrial (EC:1.5.8.3)
Short name:
SarDH
Alternative name(s):
BPR-2
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:SARDH
Synonyms:DMGDHL1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 9

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:10536 SARDH

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
604455 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9UL12

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Mitochondrion

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>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

DisGeNET

More...
DisGeNETi
1757

MalaCards human disease database

More...
MalaCardsi
SARDH
MIMi268900 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000123453

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
3129 Sarcosinemia

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA34944

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
SARDH

Domain mapping of disease mutations (DMDM)

More...
DMDMi
52000845

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a transit peptide.<p><a href='/help/transit' target='_top'>More...</a></p>Transit peptidei1 – 22MitochondrionSequence analysisAdd BLAST22
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000001077023 – 918Sarcosine dehydrogenase, mitochondrialAdd BLAST896

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>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

Encyclopedia of Proteome Dynamics

More...
EPDi
Q9UL12

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q9UL12

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q9UL12

PeptideAtlas

More...
PeptideAtlasi
Q9UL12

PRoteomics IDEntifications database

More...
PRIDEi
Q9UL12

ProteomicsDB human proteome resource

More...
ProteomicsDBi
84926

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9UL12

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q9UL12

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000123453 Expressed in 112 organ(s), highest expression level in right lobe of liver

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q9UL12 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q9UL12 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA057267
HPA058086

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
108097, 2 interactors

Protein interaction database and analysis system

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IntActi
Q9UL12, 2 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000360938

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q9UL12

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the GcvT family.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG2844 Eukaryota
COG0404 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000157589

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000251716

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q9UL12

KEGG Orthology (KO)

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KOi
K00314

Identification of Orthologs from Complete Genome Data

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OMAi
PMKHAYI

Database of Orthologous Groups

More...
OrthoDBi
813396at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9UL12

TreeFam database of animal gene trees

More...
TreeFami
TF314735

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
3.30.1360.120, 1 hit
3.50.50.60, 1 hit

Integrated resource of protein families, domains and functional sites

More...
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

Pfam protein domain database

More...
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

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF101790 SSF101790, 1 hit
SSF51905 SSF51905, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This 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 '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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
Q9UL10Q9UL10_HUMAN
Sarcosine dehydrogenase, isoform CR...
SARDH hCG_1640945
396Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
Q5SYV1Q5SYV1_HUMAN
Sarcosine dehydrogenase, mitochondr...
SARDH
608Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
Q5SYU9Q5SYU9_HUMAN
Sarcosine dehydrogenase, mitochondr...
SARDH
283Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0A0MT55A0A0A0MT55_HUMAN
Sarcosine dehydrogenase, mitochondr...
SARDH
602Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
Q5SYV2Q5SYV2_HUMAN
Sarcosine dehydrogenase, mitochondr...
SARDH
368Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>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
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0563091 – 168Missing in isoform 2. 1 PublicationAdd BLAST168

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
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.

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS6978.1 [Q9UL12-1]

NCBI Reference Sequences

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RefSeqi
NP_001128179.1, NM_001134707.1 [Q9UL12-1]
NP_009032.2, NM_007101.3 [Q9UL12-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000371872; ENSP00000360938; ENSG00000123453 [Q9UL12-1]
ENST00000439388; ENSP00000403084; ENSG00000123453 [Q9UL12-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
1757

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:1757

UCSC genome browser

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UCSCi
uc004ceo.4 human [Q9UL12-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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.
CCDSiCCDS6978.1 [Q9UL12-1]
RefSeqiNP_001128179.1, NM_001134707.1 [Q9UL12-1]
NP_009032.2, NM_007101.3 [Q9UL12-1]

3D structure databases

SMRiQ9UL12
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108097, 2 interactors
IntActiQ9UL12, 2 interactors
STRINGi9606.ENSP00000360938

PTM databases

iPTMnetiQ9UL12
PhosphoSitePlusiQ9UL12

Polymorphism and mutation databases

BioMutaiSARDH
DMDMi52000845

Proteomic databases

EPDiQ9UL12
jPOSTiQ9UL12
PaxDbiQ9UL12
PeptideAtlasiQ9UL12
PRIDEiQ9UL12
ProteomicsDBi84926

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
1757
DisGeNETi1757

GeneCards: human genes, protein and diseases

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GeneCardsi
SARDH

H-Invitational Database, human transcriptome db

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H-InvDBi
HIX0079029
HGNCiHGNC:10536 SARDH
HPAiHPA057267
HPA058086
MalaCardsiSARDH
MIMi268900 phenotype
604455 gene
neXtProtiNX_Q9UL12
OpenTargetsiENSG00000123453
Orphaneti3129 Sarcosinemia
PharmGKBiPA34944

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiKOG2844 Eukaryota
COG0404 LUCA
GeneTreeiENSGT00940000157589
HOGENOMiHOG000251716
InParanoidiQ9UL12
KOiK00314
OMAiPMKHAYI
OrthoDBi813396at2759
PhylomeDBiQ9UL12
TreeFamiTF314735

Enzyme and pathway databases

UniPathwayi
UPA00292;UER00398

BioCyciMetaCyc:HS04663-MONOMER
ReactomeiR-HSA-6798163 Choline catabolism

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
SARDH human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
SARDH

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
1757

Protein Ontology

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PROi
PR:Q9UL12

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000123453 Expressed in 112 organ(s), highest expression level in right lobe of liver
ExpressionAtlasiQ9UL12 baseline and differential
GenevisibleiQ9UL12 HS

Family and domain databases

Gene3Di3.30.1360.120, 1 hit
3.50.50.60, 1 hit
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, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiSARDH_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9UL12
Secondary accession number(s): B2RMR5
, B4DPI2, B7ZLT6, Q5SYV0, Q9Y280, Q9Y2Y3
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 13, 2004
Last sequence update: May 1, 2000
Last modified: May 8, 2019
This is version 146 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

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