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

    Gene ID: 115286, updated on 10-Dec-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
    mouse all
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    Genomic context

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    See SLC25A26 in Genome Data Viewer
    Location:
    3p14.1
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (66133610..66378927)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (66177942..66423497)
    RS_2024_09 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: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 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. 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
    4. 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
    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 (23) 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
    		not available

    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)

    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 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 HTP PubMed 
    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
      UniProtKB/TrEMBL
      A0A8I5QKW7
      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, A0A8I5QKW7
      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_2024_08

    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

      UniProtKB/TrEMBL
      A0A8I5KW47

    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

      UniProtKB/TrEMBL
      A0A8I5KW47

    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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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