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

Gene ID: 115286, updated on 1-Jun-2020

Summary

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
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

Genomic context

See SLC25A26 in Genome Data Viewer
Location:
3p14.1
Exon count:
18
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (66133610..66380021)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (66119285..66119661) , (66271149..66429351)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene membrane associated guanylate kinase, WW and PDZ domain containing 1 Neighboring gene MAGI1 intronic transcript 1 Neighboring gene MAGI1 antisense RNA 1 Neighboring gene uncharacterized LOC105377128 Neighboring gene uncharacterized LOC107986095 Neighboring gene RNA, U6 small nuclear 787, pseudogene Neighboring gene RNA, 7SL, cytoplasmic 482, pseudogene Neighboring gene developmental pluripotency associated 4 pseudogene 1 Neighboring gene HNF4 motif-containing MPRA enhancer 188 Neighboring gene leucine rich repeats and immunoglobulin like domains 1 Neighboring gene uncharacterized LOC105377141

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?

Phenotypes

Associated conditions

Description Tests
Combined oxidative phosphorylation deficiency 28
MedGen: C4225206 OMIM: 616794 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ77340, DKFZp434E079

Gene Ontology Provided by GOA

Process Evidence Code Pubs
S-adenosyl-L-methionine transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
S-adenosyl-L-methionine transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
ion transport TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
mitochondrial inner membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrial inner membrane IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial inner membrane TAS
Traceable Author Statement
more info
 
mitochondrion IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
S-adenosylmethionine mitochondrial carrier protein
Names
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)

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
    5001..250318
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001164796.1NP_001158268.1  S-adenosylmethionine mitochondrial 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/Swiss-Prot
    Q70HW3
    Related
    ENSP00000336801.5, ENST00000336733.10
    Conserved Domains (1) summary
    cl28162
    Location:3170
    Mito_carr; Mitochondrial carrier protein
  2. NM_001350991.1NP_001337920.1  S-adenosylmethionine mitochondrial carrier protein isoform a

    Status: REVIEWED

    Source sequence(s)
    AC092034, AC170165, AC235952
    Consensus CDS
    CCDS2905.2
    Conserved Domains (1) summary
    cl28162
    Location:10258
    Mito_carr; Mitochondrial carrier protein
  3. NM_001350992.1NP_001337921.1  S-adenosylmethionine mitochondrial carrier protein isoform b

    Status: REVIEWED

    Source sequence(s)
    AC092034, AC170165, AC235952
    Consensus CDS
    CCDS54604.1
    Conserved Domains (1) summary
    cl28162
    Location:3170
    Mito_carr; Mitochondrial carrier protein
  4. NM_001350993.1NP_001337922.1  S-adenosylmethionine mitochondrial carrier protein isoform b

    Status: REVIEWED

    Source sequence(s)
    AC092034, AC170165, AC235952
    Consensus CDS
    CCDS54604.1
    Conserved Domains (1) summary
    cl28162
    Location:3170
    Mito_carr; Mitochondrial carrier protein
  5. NM_001379210.1NP_001366139.1  S-adenosylmethionine mitochondrial carrier protein isoform a

    Status: REVIEWED

    Source sequence(s)
    AC092034, AC170165, AC235952, AK096876
  6. NM_173471.3NP_775742.4  S-adenosylmethionine mitochondrial 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
    Q70HW3
    UniProtKB/TrEMBL
    F8WAB8
    Related
    ENSP00000346955.6, ENST00000354883.10
    Conserved Domains (1) summary
    cl28162
    Location:10258
    Mito_carr; Mitochondrial carrier protein

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

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    66133610..66380021
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011533327.2XP_011531629.1  S-adenosylmethionine mitochondrial carrier protein isoform X2

    See identical proteins and their annotated locations for XP_011531629.1

    UniProtKB/Swiss-Prot
    Q70HW3
    Conserved Domains (1) summary
    cl28162
    Location:3170
    Mito_carr; Mitochondrial carrier protein
  2. XM_017005674.1XP_016861163.1  S-adenosylmethionine mitochondrial carrier protein isoform X4

  3. XM_006712956.2XP_006713019.1  S-adenosylmethionine mitochondrial carrier protein isoform X1

    Conserved Domains (2) summary
    PTZ00168
    Location:10243
    PTZ00168; mitochondrial carrier protein; Provisional
    pfam00153
    Location:279
    Mito_carr; Mitochondrial carrier protein
  4. XM_024453335.1XP_024309103.1  S-adenosylmethionine mitochondrial carrier protein isoform X3

    Conserved Domains (1) summary
    cl28162
    Location:10151
    Mito_carr; Mitochondrial carrier protein
  5. XM_011533328.2XP_011531630.1  S-adenosylmethionine mitochondrial carrier protein isoform X5

    Conserved Domains (1) summary
    pfam00153
    Location:279
    Mito_carr; Mitochondrial carrier protein

RNA

  1. XR_940366.3 RNA Sequence

  2. XR_001739996.2 RNA Sequence

  3. XR_940367.3 RNA Sequence

  4. XR_001739995.1 RNA Sequence

  5. XR_002959488.1 RNA Sequence

  6. XR_940368.2 RNA Sequence

  7. XR_427246.2 RNA Sequence

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_012132916.1 Reference GRCh38.p13 PATCHES

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

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.
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