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SARDH sarcosine dehydrogenase [ Homo sapiens (human) ]

Gene ID: 1757, updated on 14-Jan-2021

Summary

Official Symbol
SARDHprovided by HGNC
Official Full Name
sarcosine dehydrogenaseprovided by HGNC
Primary source
HGNC:HGNC:10536
See related
Ensembl:ENSG00000123453 MIM:604455
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
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Genomic context

See SARDH in Genome Data Viewer
Location:
9q34.2
Exon count:
26
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 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

Genomic regions, transcripts, and products

Expression

  • 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 
Process Evidence Code Pubs
choline catabolic process TAS
Traceable Author Statement
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
 

General protein information

Preferred Names
sarcosine dehydrogenase, mitochondrial
Names
dimethylglycine dehydrogenase-like 1
NP_001128179.1
NP_009032.2
XP_016869856.1
XP_016869857.1

NCBI Reference Sequences (RefSeq)

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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_001134707.2NP_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, ENST00000439388.6
    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_007101.4NP_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, ENST00000371872.8
    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 Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p13 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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