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    SLC25A11 solute carrier family 25 member 11 [ Homo sapiens (human) ]

    Gene ID: 8402, updated on 14-Nov-2024

    Summary

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    Official Symbol
    SLC25A11provided by HGNC
    Official Full Name
    solute carrier family 25 member 11provided by HGNC
    Primary source
    HGNC:HGNC:10981
    See related
    Ensembl:ENSG00000108528 MIM:604165; AllianceGenome:HGNC:10981
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    OGC; PGL6; PPGL6; SLC20A4
    Summary
    The oxoglutarate/malate carrier transports 2-oxoglutarate across the inner membranes of mitochondria in an electroneutral exchange for malate or other dicarboxylic acids (summary by Iacobazzi et al., 1992 [PubMed 1457818]).[supplied by OMIM, Jan 2011]
    Expression
    Ubiquitous expression in heart (RPKM 61.1), kidney (RPKM 32.4) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SLC25A11 in Genome Data Viewer
    Location:
    17p13.2
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (4937130..4940046, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (4827477..4830394, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (4840425..4843341, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11551 Neighboring gene chromosome 17 open reading frame 107 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:4805105-4805746 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:4805747-4806388 Neighboring gene cholinergic receptor nicotinic epsilon subunit Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11552 Neighboring gene Sharpr-MPRA regulatory region 10924 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:4811144-4811970 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:4811971-4812796 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:4812797-4813623 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11554 Neighboring gene glycoprotein Ib platelet subunit alpha Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:4841097-4841622 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:4841623-4842148 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:4842149-4842674 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8051 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11555 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:4843813-4844007 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11556 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:4847507-4848050 Neighboring gene ring finger protein 167 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11558 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11559 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11560 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11561 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8052 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8053 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8054 Neighboring gene profilin 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 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. The formation of a disulfide cross-link between the two subunits demonstrates the dimeric structure of the mitochondrial oxoglutarate carrier. Bisaccia F, et al. Biochim Biophys Acta, 1996 Feb 8. PMID 8597574
    2. The mitochondrial oxoglutarate carrier protein contains a disulfide bridge between intramembranous cysteines 221 and 224. Bisaccia F, et al. FEBS Lett, 1996 Aug 19. PMID 8769314
    3. Assignment of the oxoglutarate carrier gene (SLC20A4) to human chromosome 17p13.3. Piccininni S, et al. Cytogenet Cell Genet, 1998. PMID 10072597
    4. Germline Mutations in the Mitochondrial 2-Oxoglutarate/Malate Carrier SLC25A11 Gene Confer a Predisposition to Metastatic Paragangliomas. Buffet A, et al. Cancer Res, 2018 Apr 15. PMID 29431636
    5. Sensitivity of the 2-oxoglutarate carrier to alcohol intake contributes to mitochondrial glutathione depletion. Coll O, et al. Hepatology, 2003 Sep. PMID 12939596

    See all (192) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. data show that SLC25A11 is a novel paraganglioma susceptibility gene for which loss of function correlates with metastatic presentation
      Title: Germline Mutations in the Mitochondrial 2-Oxoglutarate/Malate Carrier SLC25A11 Gene Confer a Predisposition to Metastatic Paragangliomas.
    2. Cancer cells critically depended on the oxoglutarate carrier SLC25A11 for transporting NADH from cytosol to mitochondria as a malate form for the purpose of ATP production
      Title: Loss of SLC25A11 causes suppression of NSCLC and melanoma tumor formation.
    3. The Network analyses identified SLC25A11expression in temporal cortex in patient with late-onset Alzheimer's disease.
      Title: Systems biology approach to late-onset Alzheimer's disease genome-wide association study identifies novel candidate genes validated using brain expression data and Caenorhabditis elegans experiments.
    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. OGC as a model protein for understanding the transport mechanism of mitochondrial carriers.
      Title: The mitochondrial oxoglutarate carrier: from identification to mechanism.
    6. OGCP degrades through proteasome and lysosome degradation pathways. The degradation of parkin protein can promote the degradation of OGCP.
      Title: [Metabolic pathways of OGCP and the influence of parkin protein on the metabolism of OGCP].
    7. Controlling MISC-1/OGC function allows regulation of mitochondrial morphology and cell survival decisions by the metabolic needs of the cell.
      Title: MISC-1/OGC links mitochondrial metabolism, apoptosis and insulin secretion.
    8. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    9. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    10. porphyrin accumulation in mitochondria is mediated by OGC and porphyrins are able to competitively inhibit 2-oxoglutarate uptake into mitochondria
      Title: Porphyrin accumulation in mitochondria is mediated by 2-oxoglutarate carrier.
    Submit: New GeneRIF Correction See all GeneRIFs (11)

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Paragangliomas 6
    MedGen: C5193112 OMIM: 618464 GeneReviews: Not available
    		not available

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env Tandem affinity purification and mass spectrometry analysis identify mitochondrial 2-oxoglutarate/malate carrier protein (SLC25A11), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    Gag-Pol gag-pol Tandem affinity purification and mass spectrometry analysis identify mitochondrial 2-oxoglutarate/malate carrier protein (SLC25A11), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    Nef nef Tandem affinity purification and mass spectrometry analysis identify mitochondrial 2-oxoglutarate/malate carrier protein (SLC25A11), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    Pr55(Gag) gag Tandem affinity purification and mass spectrometry analysis identify mitochondrial 2-oxoglutarate/malate carrier protein (SLC25A11), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed

    Go to the HIV-1, Human Interaction Database

    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA PubMed 
    enables oxoglutarate:malate antiporter activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in alpha-ketoglutarate transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in gluconeogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in lipid transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in malate-aspartate shuttle IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in oxaloacetate(2-) transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in mitochondrial inner membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in mitochondrion HDA PubMed 
    located_in mitochondrion HTP PubMed 
    located_in nucleus HDA PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    mitochondrial 2-oxoglutarate/malate carrier protein
    Names
    OGCP
    alpha-oxoglutarate carrier
    solute carrier family 20 (oxoglutarate carrier), member 4
    solute carrier family 25 (mitochondrial carrier; oxoglutarate carrier), member 11

    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.

    mRNA and Protein(s)

    1. NM_001165417.2 → NP_001158889.1  mitochondrial 2-oxoglutarate/malate carrier protein isoform 2

      See identical proteins and their annotated locations for NP_001158889.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice junction at the 3' end of an exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AA937945, AK290376, BM047391, CB155476
      UniProtKB/TrEMBL
      I3L1P8
      Related
      ENSP00000458993.1, ENST00000576951.1
      Conserved Domains (1) summary
      pfam00153
      Location:105 → 202
      Mito_carr; Mitochondrial carrier protein

    2. NM_001165418.2 → NP_001158890.1  mitochondrial 2-oxoglutarate/malate carrier protein isoform 3

      See identical proteins and their annotated locations for NP_001158890.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (3) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AA937945, AK290376, BI752999, CB155476
      Consensus CDS
      CCDS54069.1
      UniProtKB/TrEMBL
      I3L1P8
      Related
      ENSP00000440804.2, ENST00000544061.6
      Conserved Domains (1) summary
      pfam00153
      Location:65 → 162
      Mito_carr; Mitochondrial carrier protein

    3. NM_003562.5 → NP_003553.2  mitochondrial 2-oxoglutarate/malate carrier protein isoform 1

      See identical proteins and their annotated locations for NP_003553.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AA937945, AK290376, CB155476
      Consensus CDS
      CCDS11059.1
      UniProtKB/Swiss-Prot
      F5GY65, O75537, Q02978, Q969P7
      UniProtKB/TrEMBL
      I3L1P8, Q6IBH0
      Related
      ENSP00000225665.7, ENST00000225665.12
      Conserved Domains (1) summary
      pfam00153
      Location:24 → 102
      Mito_carr; Mitochondrial carrier protein

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      4937130..4940046 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      4827477..4830394 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q02978.3 GenPept UniProtKB/Swiss-Prot:Q02978

    Gene LinkOut

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

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