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SLC25A26 solute carrier family 25 member 26 [ Homo sapiens (human) ]

Gene ID: 115286, updated on 3-Apr-2024

Summary

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Official Symbol
SLC25A26provided by HGNC
Official Full Name
solute carrier family 25 member 26provided by HGNC
Primary source
HGNC:HGNC:20661
See related
Ensembl:ENSG00000144741 MIM:611037; AllianceGenome:HGNC:20661
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
SAMC; COXPD28
Summary
This gene is a member of the mitochondrial carrier family which includes nuclear-encoded transporters localized on the inner mitochondrial membranes. Members of the family transport important small molecules across the mitochondrial inner membrane. This protein is involved in the transport of S-adenosylmethionine (SAM) into the mitochondria. Mutations in this gene are associated with combined oxidative phosphorylation deficiency 28. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2017]
Expression
Ubiquitous expression in brain (RPKM 11.7), fat (RPKM 7.0) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
3p14.1
Exon count:
17
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (66133610..66378927)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (66177942..66423497)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (66119285..66429351)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene membrane associated guanylate kinase, WW and PDZ domain containing 1 Neighboring gene uncharacterized LOC124900543 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:65985258-65985772 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:65985773-65986287 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:65995041-65995541 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr3:65996456-65997048 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:66021123-66021952 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:66021953-66022780 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:66022781-66023608 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14503 Neighboring gene uncharacterized LOC105377128 Neighboring gene NANOG hESC enhancer GRCh37_chr3:66041754-66042276 Neighboring gene NANOG hESC enhancer GRCh37_chr3:66050608-66051192 Neighboring gene uncharacterized LOC107986095 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20037 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20038 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:66271551-66272050 Neighboring gene RNA, U6 small nuclear 787, pseudogene Neighboring gene RNA, 7SL, cytoplasmic 482, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:66433621-66434120 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:66433119-66433620 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20039 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20040 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20041 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20042 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20043 Neighboring gene developmental pluripotency associated 4 pseudogene 1 Neighboring gene NANOG hESC enhancer GRCh37_chr3:66472381-66472906 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:66486139-66486729 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:66486730-66487319 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:66491627-66492374 Neighboring gene HNF4 motif-containing MPRA enhancer 188 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14504 Neighboring gene Sharpr-MPRA regulatory region 8313 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:66550542-66551042 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:66551043-66551543 Neighboring gene leucine rich repeats and immunoglobulin like domains 1 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:66582385-66583210 Neighboring gene Sharpr-MPRA regulatory region 1089 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr3:66604132-66605331 Neighboring gene uncharacterized LOC105377141 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr3:66622461-66623375 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr3:66623376-66624289 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:66663707-66663920 Neighboring gene TCEAL8 pseudogene 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Identification and characterization of novel compound variants in SLC25A26 associated with combined oxidative phosphorylation deficiency 28. Ji Y, et al. Gene, 2021 Dec 15. PMID 34375635
  2. SLC25A26 overexpression impairs cell function via mtDNA hypermethylation and rewiring of methyl metabolism. Menga A, et al. FEBS J, 2017 Mar. PMID 28118529
  3. Intra-mitochondrial Methylation Deficiency Due to Mutations in SLC25A26. Kishita Y, et al. Am J Hum Genet, 2015 Nov 5. PMID 26522469, Free PMC Article
  4. Identification of the human mitochondrial S-adenosylmethionine transporter: bacterial expression, reconstitution, functional characterization and tissue distribution. Agrimi G, et al. Biochem J, 2004 Apr 1. PMID 14674884, Free PMC Article
  5. Appoptosin interacts with mitochondrial outer-membrane fusion proteins and regulates mitochondrial morphology. Zhang C, et al. J Cell Sci, 2016 Mar 1. PMID 26813789, Free PMC Article

See all (22) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Identification and characterization of novel compound variants in SLC25A26 associated with combined oxidative phosphorylation deficiency 28.
    Title: Identification and characterization of novel compound variants in SLC25A26 associated with combined oxidative phosphorylation deficiency 28.
  2. overexpression of SLC25A26 in CaSki cells increases mitochondrial SAM availability and promotes hypermethylation of mitochondrial DNA, leading to decreased expression of key respiratory complex subunits, reduction of mitochondrial ATP and release of cytochrome c.
    Title: SLC25A26 overexpression impairs cell function via mtDNA hypermethylation and rewiring of methyl metabolism.
  3. SLC25A26 mutations cause various mitochondrial defects, including those affecting RNA stability, protein modification, mitochondrial translation, and the biosynthesis of CoQ10 and lipoic acid.
    Title: Intra-mitochondrial Methylation Deficiency Due to Mutations in SLC25A26.
  4. Compares and contrasts all the known human SLC25A* genes and includes functional information.
    Title: The mitochondrial transporter family SLC25: identification, properties and physiopathology.
  5. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
  6. SAMC was expressed in mitochondria of all human tissues examined. The role of SAMC is probably to exchange cytosolic SAM for mitochondrial S-adenosylhomocysteine. This is the 1st report of identification & characterization of the human SAMC & its gene.
    Title: Identification of the human mitochondrial S-adenosylmethionine transporter: bacterial expression, reconstitution, functional characterization and tissue distribution.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Combined oxidative phosphorylation deficiency 28
MedGen: C5569081 OMIM: 616794 GeneReviews: Not available
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EBI GWAS Catalog

Description
Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ77340, DKFZp434E079

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables S-adenosyl-L-methionine transmembrane transporter activity EXP
Inferred from Experiment
more info
 PubMed 
enables S-adenosyl-L-methionine transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables S-adenosyl-L-methionine transmembrane transporter activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables S-adenosyl-L-methionine:S-adenosyl-L-homocysteine antiporter activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Process Evidence Code Pubs
involved_in L-alpha-amino acid transmembrane transport IEA
Inferred from Electronic Annotation
more info
  
involved_in S-adenosyl-L-methionine transport IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of macromolecule methylation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in mitochondrial S-adenosyl-L-methionine transmembrane transport IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in modified amino acid transport IEA
Inferred from Electronic Annotation
more info
  
involved_in monoatomic ion transport TAS
Traceable Author Statement
more info
  
involved_in purine nucleoside transmembrane transport IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
is_active_in mitochondrial inner membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in mitochondrial inner membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in mitochondrial inner membrane TAS
Traceable Author Statement
more info
  
located_in mitochondrion IDA
Inferred from Direct Assay
more info
  

General protein information

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Preferred Names
mitochondrial S-adenosylmethionine carrier protein
Names
S-adenosylmethionine mitochondrial carrier protein
SAM carrier
mitochondrial S-adenosylmethionine transporter
solute carrier family 25 (S-adenosylmethionine carrier), member 26
solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 26

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_054637.1 RefSeqGene

    Range
    92392..250314
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001164796.1 → NP_001158268.1  mitochondrial S-adenosylmethionine carrier protein isoform b

    See identical proteins and their annotated locations for NP_001158268.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks a portion of the 5' coding region, and uses a downstream translational start codon, compared to variant 1. The encoded isoform (b) is shorter at the N-terminus, compared to isoform a.
    Source sequence(s)
    AC092034, AC235952, BC012852, BI822084, DA845619
    Consensus CDS
    CCDS54604.1
    UniProtKB/TrEMBL
    A0A8I5QKW7
    Related
    ENSP00000336801.5, ENST00000336733.10
    Conserved Domains (1) summary
    cl28162
    Location:3 → 170
    Mito_carr; Mitochondrial carrier protein

  2. NM_001350993.1 → NP_001337922.1  mitochondrial S-adenosylmethionine carrier protein isoform b

    Status: REVIEWED

    Source sequence(s)
    AC092034, AC170165, AC235952
    Consensus CDS
    CCDS54604.1
    UniProtKB/TrEMBL
    A0A8I5QKW7
    Related
    ENSP00000510022.1, ENST00000691461.1
    Conserved Domains (1) summary
    cl28162
    Location:3 → 170
    Mito_carr; Mitochondrial carrier protein

  3. NM_001379210.1 → NP_001366139.1  mitochondrial S-adenosylmethionine carrier protein isoform a

    Status: REVIEWED

    Source sequence(s)
    AC092034, AC170165, AC235952, AK096876
    Consensus CDS
    CCDS2905.2
    UniProtKB/Swiss-Prot
    A8K758, B3KRZ7, F8WAB8, Q70HW3, Q7Z786, Q96E68
    Related
    ENSP00000346955.6, ENST00000354883.11
    Conserved Domains (1) summary
    PTZ00168
    Location:10 → 258
    PTZ00168; mitochondrial carrier protein; Provisional

  4. NM_001400705.1 → NP_001387634.1  mitochondrial S-adenosylmethionine carrier protein isoform c

    Status: REVIEWED

    Source sequence(s)
    AC092034, AC170165, AC235952

  5. NM_001400707.1 → NP_001387636.1  mitochondrial S-adenosylmethionine carrier protein isoform d

    Status: REVIEWED

    Source sequence(s)
    AC092034, AC170165, AC235952

  6. NM_001400709.1 → NP_001387638.1  mitochondrial S-adenosylmethionine carrier protein isoform e

    Status: REVIEWED

    Source sequence(s)
    AC092034, AC170165, AC235952
    Consensus CDS
    CCDS93306.1
    UniProtKB/TrEMBL
    H7C430
    Related
    ENSP00000415304.2, ENST00000413054.5

  7. NM_001400711.1 → NP_001387640.1  mitochondrial S-adenosylmethionine carrier protein isoform b

    Status: REVIEWED

    Source sequence(s)
    AC092034, AC170165, AC235952
    Consensus CDS
    CCDS54604.1
    Related
    ENSP00000509933.1, ENST00000686511.1

  8. NM_001400714.1 → NP_001387643.1  mitochondrial S-adenosylmethionine carrier protein isoform f

    Status: REVIEWED

    Source sequence(s)
    AC092034, AC170165, AC235952
    Consensus CDS
    CCDS93307.1
    UniProtKB/TrEMBL
    A0A8I5KS24
    Related
    ENSP00000509413.1, ENST00000689520.1

  9. NM_173471.4 → NP_775742.4  mitochondrial S-adenosylmethionine carrier protein isoform a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a).
    Source sequence(s)
    AC092034, AC145425, AC235952, AJ580932, BC012852, BI822084
    Consensus CDS
    CCDS2905.2
    UniProtKB/Swiss-Prot
    A8K758, B3KRZ7, F8WAB8, Q70HW3, Q7Z786, Q96E68
    Related
    ENSP00000504323.1, ENST00000676754.1
    Conserved Domains (1) summary
    PTZ00168
    Location:10 → 258
    PTZ00168; mitochondrial carrier protein; Provisional

RNA

  1. NR_028475.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an internal exon but includes an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the expected translational start codon, as used in variant 2, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC092034, AC235952, BC003399, BC012852, BI822084, DA845619
    Related
    ENST00000483224.5

  2. NR_174566.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC092034, AC170165, AC235952

  3. NR_174567.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC092034, AC170165, AC235952

  4. NR_174568.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC092034, AC170165, AC235952

  5. NR_174569.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC092034, AC170165, AC235952

  6. NR_174570.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC092034, AC170165, AC235952

  7. NR_174571.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC092034, AC170165, AC235952

  8. NR_174572.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC092034, AC170165, AC235952
    Related
    ENST00000690634.1

  9. NR_174573.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC092034, AC170165, AC235952

  10. NR_174574.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC092034, AC170165, AC235952
    Related
    ENST00000691525.1

  11. NR_174575.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC092034, AC170165, AC235952

  12. NR_174576.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC092034, AC170165, AC235952

  13. NR_174577.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC092034, AC170165, AC235952

  14. NR_174578.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC092034, AC170165, AC235952

  15. NR_174579.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC092034, AC170165, AC235952
    Related
    ENST00000686445.1

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_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    66133610..66378927
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011533328.3 → XP_011531630.1  mitochondrial S-adenosylmethionine carrier protein isoform X1

    UniProtKB/TrEMBL
    A0A8I5KW47
    Related
    ENSP00000510010.1, ENST00000691582.1
    Conserved Domains (1) summary
    pfam00153
    Location:2 → 79
    Mito_carr; Mitochondrial carrier protein

RNA

  1. XR_007095631.1 RNA Sequence

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_012132916.1 Reference GRCh38.p14 PATCHES

    Range
    110410..355823
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054331863.1 → XP_054187838.1  mitochondrial S-adenosylmethionine carrier protein isoform X1

RNA

  1. XR_008485736.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    66177942..66423497
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054345135.1 → XP_054201110.1  mitochondrial S-adenosylmethionine carrier protein isoform X1

RNA

  1. XR_008486639.1 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001009938.1: Suppressed sequence

    Description
    NM_001009938.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.

  2. NM_001350991.1: Suppressed sequence

    Description
    NM_001350991.1: This RefSeq was removed because currently there is insufficient support for the transcript.

  3. NM_001350992.1: Suppressed sequence

    Description
    NM_001350992.1: This RefSeq was removed because currently there is insufficient support for the transcript.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q70HW3.2 GenPept UniProtKB/Swiss-Prot:Q70HW3

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