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SARDH sarcosine dehydrogenase [ Homo sapiens (human) ]

Gene ID: 1757, updated on 3-Jun-2018
Official Symbol
SARDHprovided by HGNC
Official Full Name
sarcosine dehydrogenaseprovided by HGNC
Primary source
HGNC:HGNC:10536
See related
Ensembl:ENSG00000123453 MIM:604455; Vega:OTTHUMG00000020879
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
SAR; SDH; SARD; BPR-2; DMGDHL1
Summary
This gene encodes an enzyme localized to the mitochondrial matrix which catalyzes the oxidative demethylation of sarcosine. This enzyme is distinct from another mitochondrial matrix enzyme, dimethylglycine dehydrogenase, which catalyzes a reaction resulting in the formation of sarcosine. Mutations in this gene are associated with sarcosinemia. Alternatively spliced transcript variants have been described. [provided by RefSeq, Oct 2008]
Expression
Biased expression in liver (RPKM 15.5), kidney (RPKM 6.4) and 6 other tissues See more
Orthologs
See SARDH in Genome Data Viewer
Location:
9q34.2
Exon count:
26
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 9 NC_000009.12 (133663074..133739958, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (136528682..136605077, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene family with sequence similarity 163 member B Neighboring gene uncharacterized LOC105376308 Neighboring gene SARDH intron CAGE-defined T cell enhancer Neighboring gene DBH antisense RNA 1 Neighboring gene dopamine beta-hydroxylase Neighboring gene vav guanine nucleotide exchange factor 2 Neighboring gene BRD3 opposite strand Neighboring gene bromodomain containing 3

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • Choline catabolism, organism-specific biosystem (from REACTOME)
    Choline catabolism, organism-specific biosystemCholine is an essential water-soluble nutrient in humans, serving as a precursor of phospholipids and the neurotransmitter acetylcholine. It is often associated with B vitamins based on its chemical ...
  • Glycerophospholipid biosynthesis, organism-specific biosystem (from REACTOME)
    Glycerophospholipid biosynthesis, organism-specific biosystemGlycerophospholipids are important structural and functional components of biological membranes and constituents of serum lipoproteins and the pulmonary surfactant. In addition, glycerophospholipids...
  • Glycine, serine and threonine metabolism, organism-specific biosystem (from KEGG)
    Glycine, serine and threonine metabolism, organism-specific biosystemSerine is derived from 3-phospho-D-glycerate, an intermediate of glycolysis [MD:M00020], and glycine is derived from serine. Threonine is an essential amino acid, which animals cannot synthesize. In ...
  • Glycine, serine and threonine metabolism, conserved biosystem (from KEGG)
    Glycine, serine and threonine metabolism, conserved biosystemSerine is derived from 3-phospho-D-glycerate, an intermediate of glycolysis [MD:M00020], and glycine is derived from serine. Threonine is an essential amino acid, which animals cannot synthesize. In ...
  • Metabolic pathways, organism-specific biosystem (from KEGG)
    Metabolic pathways, organism-specific biosystem
    Metabolic pathways
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
    Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...
  • Phospholipid metabolism, organism-specific biosystem (from REACTOME)
    Phospholipid metabolism, organism-specific biosystemPhospholipids contain a polar head group and two long-chain fatty acyl moieties, one of which is generally unsaturated. The head group is a glycerol or serine phosphate attached to a polar group such...
  • glycine betaine degradation, organism-specific biosystem (from BIOCYC)
    glycine betaine degradation, organism-specific biosystemBackground : BETAINE "Glycine betaine" plays an important osmoprotectant role in mammals, protects from several other forms of cellular stress and functions as a methyl group donor . In mammals, gly...
  • glycine betaine degradation II (mammalian), conserved biosystem (from BIOCYC)
    glycine betaine degradation II (mammalian), conserved biosystemBackground |FRAME: BETAINE "Glycine betaine"| plays an important osmoprotectant role in mammals, protects from several other forms of cellular stress and functions as a methyl group donor |CITS: [20...
  • superpathway of choline degradation to L-serine, organism-specific biosystem (from BIOCYC)
    superpathway of choline degradation to L-serine, organism-specific biosystemBackground : CHOLINE "Choline" plays a key role in several pathways and its concentration in vivo is carefully regulated. Choline is an essential nutrient for fetal and brain development. It is invo...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ36475

Gene Ontology Provided by GOA

Function Evidence Code Pubs
oxidoreductase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sarcosine dehydrogenase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sarcosine dehydrogenase activity TAS
Traceable Author Statement
more info
 
Process Evidence Code Pubs
choline catabolic process TAS
Traceable Author Statement
more info
 
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
sarcosine catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrial matrix IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrial matrix TAS
Traceable Author Statement
more info
 
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrion ISS
Inferred from Sequence or Structural Similarity
more info
 
Preferred Names
sarcosine dehydrogenase, mitochondrial
Names
dimethylglycine dehydrogenase-like 1
NP_001128179.1
NP_009032.2
XP_016869856.1
XP_016869857.1

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008987.1 RefSeqGene

    Range
    5001..81396
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001134707.1NP_001128179.1  sarcosine dehydrogenase, mitochondrial precursor

    See identical proteins and their annotated locations for NP_001128179.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Both variants 1 and 2 encode the same isoform.
    Source sequence(s)
    AK291211, AL365494, AL590710, BC041574
    Consensus CDS
    CCDS6978.1
    UniProtKB/Swiss-Prot
    Q9UL12
    UniProtKB/TrEMBL
    A8K596
    Related
    ENSP00000403084.1, ENST00000439388.5
    Conserved Domains (5) summary
    COG0404
    Location:479916
    GcvT; Glycine cleavage system T protein (aminomethyltransferase) [Amino acid transport and metabolism]
    COG0665
    Location:63447
    DadA; Glycine/D-amino acid oxidase (deaminating) [Amino acid transport and metabolism]
    pfam01571
    Location:489798
    GCV_T; Aminomethyltransferase folate-binding domain
    pfam08669
    Location:807871
    GCV_T_C; Glycine cleavage T-protein C-terminal barrel domain
    pfam16350
    Location:430485
    FAO_M; FAD dependent oxidoreductase central domain
  2. NM_007101.3NP_009032.2  sarcosine dehydrogenase, mitochondrial precursor

    See identical proteins and their annotated locations for NP_009032.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same isoform.
    Source sequence(s)
    AF095735, AL365494, AL590710, BC136363, DB184618
    Consensus CDS
    CCDS6978.1
    UniProtKB/Swiss-Prot
    Q9UL12
    Related
    ENSP00000360938.4, OTTHUMP00000022503, ENST00000371872.8, OTTHUMT00000054931
    Conserved Domains (5) summary
    COG0404
    Location:479916
    GcvT; Glycine cleavage system T protein (aminomethyltransferase) [Amino acid transport and metabolism]
    COG0665
    Location:63447
    DadA; Glycine/D-amino acid oxidase (deaminating) [Amino acid transport and metabolism]
    pfam01571
    Location:489798
    GCV_T; Aminomethyltransferase folate-binding domain
    pfam08669
    Location:807871
    GCV_T_C; Glycine cleavage T-protein C-terminal barrel domain
    pfam16350
    Location:430485
    FAO_M; FAD dependent oxidoreductase central domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p12 Primary Assembly

    Range
    133663074..133739958 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017014367.1XP_016869856.1  sarcosine dehydrogenase, mitochondrial isoform X1

    Conserved Domains (5) summary
    COG0404
    Location:479870
    GcvT; Glycine cleavage system T protein (aminomethyltransferase) [Amino acid transport and metabolism]
    COG0665
    Location:63447
    DadA; Glycine/D-amino acid oxidase (deaminating) [Amino acid transport and metabolism]
    pfam01571
    Location:489798
    GCV_T; Aminomethyltransferase folate-binding domain
    pfam08669
    Location:807871
    GCV_T_C; Glycine cleavage T-protein C-terminal barrel domain
    pfam16350
    Location:430485
    FAO_M; FAD dependent oxidoreductase central domain
  2. XM_017014368.1XP_016869857.1  sarcosine dehydrogenase, mitochondrial isoform X2

RNA

  1. XR_001746217.1 RNA Sequence

  2. XR_001746216.1 RNA Sequence

  3. XR_001746213.1 RNA Sequence

  4. XR_001746215.1 RNA Sequence

  5. XR_001746214.1 RNA Sequence

  6. XR_929726.2 RNA Sequence

  7. XR_002956762.1 RNA Sequence

  8. XR_001746218.1 RNA Sequence

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