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SARDH sarcosine dehydrogenase [ Homo sapiens (human) ]

Gene ID: 1757, updated on 23-Nov-2023

Summary

Official Symbol
SARDHprovided by HGNC
Official Full Name
sarcosine dehydrogenaseprovided by HGNC
Primary source
HGNC:HGNC:10536
See related
Ensembl:ENSG00000123453 MIM:604455; AllianceGenome:HGNC:10536
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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See SARDH in Genome Data Viewer
Location:
9q34.2
Exon count:
25
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (133659418..133739955, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (145875436..145955389, complement)
105.20220307 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 uncharacterized LOC124902296 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:136457531-136458030 Neighboring gene family with sequence similarity 163 member B Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136480627-136481226 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136502750-136503485 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136519605-136520404 Neighboring gene SARDH intron CAGE-defined T cell enhancer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136550530-136551030 Neighboring gene DBH antisense RNA 1 Neighboring gene dopamine beta-hydroxylase Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136576505-136577208 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136580725-136581428 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136581429-136582130 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136592563-136593073 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:136608197-136608347 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29248 Neighboring gene Sharpr-MPRA regulatory region 10163 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:136640028-136640254 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136644953-136645920 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29249 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136652072-136652624 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20465 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29250 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_106974 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136666341-136666861 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136667983-136668505 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136668506-136669028 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136676904-136677659 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136677660-136678414 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136679171-136679924 Neighboring gene vav guanine nucleotide exchange factor 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29251 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29252 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29253 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136689618-136690614 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136690615-136691612 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136699176-136699998 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136704646-136705596 Neighboring gene Sharpr-MPRA regulatory region 14277 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29254 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136714035-136715017 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136715018-136715999 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136717779-136718308 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136719038-136719538 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136719539-136720039 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136722620-136723471 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136726902-136727725 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136727726-136728548 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136732543-136733366 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136737072-136737572 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136737573-136738073 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:136739070-136740269 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136741055-136741790 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136741791-136742524 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136747665-136748398 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136749133-136749866 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr9:136753100-136754299 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29255 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136779963-136780912 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136780913-136781861 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136784581-136785360 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29256 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136795832-136796480 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136809459-136810312 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29257 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29258 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136813513-136814022 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136814023-136814532 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136815043-136815553 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29259 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136822320-136822896 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136822897-136823473 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136824052-136824628 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136823474-136824051 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136825207-136825782 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136825783-136826360 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29262 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29263 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136835167-136836051 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136836052-136836935 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29264 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29265 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136843801-136844318 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136844835-136845350 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136848313-136849057 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136853577-136854304 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136854305-136855032 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136855033-136855760 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136855761-136856488 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136856489-136857216 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20468 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20469 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136857945-136858672 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20471 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20472 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20473 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

Clone Names

  • FLJ36475

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables sarcosine dehydrogenase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
Process Evidence Code Pubs
involved_in sarcosine catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
 
is_active_in mitochondrial matrix IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in mitochondrial matrix TAS
Traceable Author Statement
more info
 
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in 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_047278850.1
XP_047278851.1
XP_047278852.1
XP_047278853.1
XP_047278854.1
XP_054218196.1
XP_054218197.1
XP_054218198.1
XP_054218199.1
XP_054218200.1
XP_054218201.1

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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_008987.2 RefSeqGene

    Range
    6603..81395
    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
    B2RMR5, B4DPI2, B7ZLT6, Q5SYV0, Q9UL12, Q9Y280, Q9Y2Y3
    UniProtKB/TrEMBL
    Q53F87
    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
    B2RMR5, B4DPI2, B7ZLT6, Q5SYV0, Q9UL12, Q9Y280, Q9Y2Y3
    UniProtKB/TrEMBL
    Q53F87
    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: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

    Range
    133659418..133739955 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017014367.2XP_016869856.1  sarcosine dehydrogenase, mitochondrial isoform X2

    UniProtKB/TrEMBL
    Q53F87
    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_047422896.1XP_047278852.1  sarcosine dehydrogenase, mitochondrial isoform X2

    UniProtKB/TrEMBL
    Q53F87
  3. XM_047422897.1XP_047278853.1  sarcosine dehydrogenase, mitochondrial isoform X2

    UniProtKB/TrEMBL
    Q53F87
  4. XM_047422895.1XP_047278851.1  sarcosine dehydrogenase, mitochondrial isoform X1

    UniProtKB/Swiss-Prot
    B2RMR5, B4DPI2, B7ZLT6, Q5SYV0, Q9UL12, Q9Y280, Q9Y2Y3
    UniProtKB/TrEMBL
    Q53F87
  5. XM_047422894.1XP_047278850.1  sarcosine dehydrogenase, mitochondrial isoform X1

    UniProtKB/Swiss-Prot
    B2RMR5, B4DPI2, B7ZLT6, Q5SYV0, Q9UL12, Q9Y280, Q9Y2Y3
    UniProtKB/TrEMBL
    Q53F87
  6. XM_047422898.1XP_047278854.1  sarcosine dehydrogenase, mitochondrial isoform X3

    UniProtKB/TrEMBL
    Q05BT1

RNA

  1. XR_001746217.2 RNA Sequence

  2. XR_001746216.2 RNA Sequence

  3. XR_001746213.2 RNA Sequence

  4. XR_007061258.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    145875436..145955389 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054362223.1XP_054218198.1  sarcosine dehydrogenase, mitochondrial isoform X2

    UniProtKB/TrEMBL
    A8K596
  2. XM_054362224.1XP_054218199.1  sarcosine dehydrogenase, mitochondrial isoform X2

    UniProtKB/TrEMBL
    A8K596
  3. XM_054362225.1XP_054218200.1  sarcosine dehydrogenase, mitochondrial isoform X2

    UniProtKB/TrEMBL
    A8K596
  4. XM_054362222.1XP_054218197.1  sarcosine dehydrogenase, mitochondrial isoform X1

    UniProtKB/TrEMBL
    A8K596
  5. XM_054362221.1XP_054218196.1  sarcosine dehydrogenase, mitochondrial isoform X1

    UniProtKB/TrEMBL
    A8K596
  6. XM_054362226.1XP_054218201.1  sarcosine dehydrogenase, mitochondrial isoform X3

    UniProtKB/TrEMBL
    Q05BT1

RNA

  1. XR_008487956.1 RNA Sequence

  2. XR_008487955.1 RNA Sequence

  3. XR_008487954.1 RNA Sequence

  4. XR_008487957.1 RNA Sequence