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    SLC25A21 solute carrier family 25 member 21 [ Homo sapiens (human) ]

    Gene ID: 89874, updated on 28-Oct-2024

    Summary

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    Official Symbol
    SLC25A21provided by HGNC
    Official Full Name
    solute carrier family 25 member 21provided by HGNC
    Primary source
    HGNC:HGNC:14411
    See related
    Ensembl:ENSG00000183032 MIM:607571; AllianceGenome:HGNC:14411
    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
    ODC; ODC1; MTDPS18
    Summary
    SLC25A21 is a homolog of the S. cerevisiae ODC proteins, mitochondrial carriers that transport C5-C7 oxodicarboxylates across inner mitochondrial membranes. One of the species transported by ODC is 2-oxoadipate, a common intermediate in the catabolism of lysine, tryptophan, and hydroxylysine in mammals. Within mitochondria, 2-oxoadipate is converted into acetyl-CoA.[supplied by OMIM, Apr 2004]
    Expression
    Biased expression in esophagus (RPKM 5.4), salivary gland (RPKM 2.6) and 13 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SLC25A21 in Genome Data Viewer
    Location:
    14q13.3
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (36677921..37172606, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (30867261..31362039, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (37147126..37641811, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene RN7SK pseudogene 257 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:37116557-37117386 Neighboring gene uncharacterized LOC105370455 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:37123150-37123888 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8284 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:37125365-37126102 Neighboring gene PAX9 promoter region Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:37131533-37132044 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:37132045-37132554 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:37132555-37133065 Neighboring gene NANOG hESC enhancer GRCh37_chr14:37153788-37154289 Neighboring gene paired box 9 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr14:37271122-37272321 Neighboring gene NANOG hESC enhancer GRCh37_chr14:37274394-37274895 Neighboring gene uncharacterized LOC107984668 Neighboring gene microRNA 4503 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr14:37549523-37550722 Neighboring gene Sharpr-MPRA regulatory region 11704 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr14:37636900-37637452 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:37640926-37641505 Neighboring gene SLC25A21 antisense RNA 1 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:37641506-37642084 Neighboring gene RNA, U6 small nuclear 273, pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr14:37708438-37708614 Neighboring gene VISTA enhancer hs593 Neighboring gene mirror-image polydactyly 1 Neighboring gene uncharacterized LOC107984702

    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. Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy-like disease. Boczonadi V, et al. Genet Med, 2018 Oct. PMID 29517768, Free PMC Article
    2. SLC25A21 downregulation promotes KRAS-mutant colorectal cancer progression by increasing glutamine anaplerosis. Hu SS, et al. JCI Insight, 2023 Nov 8. PMID 37937641, Free PMC Article
    3. Identification of the human mitochondrial oxodicarboxylate carrier. Bacterial expression, reconstitution, functional characterization, tissue distribution, and chromosomal location. Fiermonte G, et al. J Biol Chem, 2001 Mar 16. PMID 11083877
    4. The mitochondrial transporter family SLC25: identification, properties and physiopathology. Palmieri F. Mol Aspects Med, 2013 Apr-Jun. PMID 23266187
    5. Large-scale genotyping identifies 41 new loci associated with breast cancer risk. Michailidou K, et al. Nat Genet, 2013 Apr. PMID 23535729, Free PMC Article

    See all (29) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. SLC25A21 downregulation promotes KRAS-mutant colorectal cancer progression by increasing glutamine anaplerosis.
      Title: SLC25A21 downregulation promotes KRAS-mutant colorectal cancer progression by increasing glutamine anaplerosis.
    2. We identified a novel pathogenic variant in a patient by whole-exome sequencing. The pathogenicity of the mutation was studied by transport assays, computer modeling, followed by targeted metabolic testing and in vitro studies in human fibroblasts and neurons
      Title: Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy-like disease.
    3. Compares and contrasts all the known human SLC25A* genes and includes functional information.
      Title: The mitochondrial transporter family SLC25: identification, properties and physiopathology.
    4. 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.
    5. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    6. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    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
    Mitochondrial DNA depletion syndrome 18
    MedGen: C5394140 OMIM: 618811 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    Large-scale genotyping identifies 41 new loci associated with breast cancer risk.
    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

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Vif vif HIV-1 Vif downregulates the expression of solute carrier family 25, member 21 (SLC25A21) in Vif-expression T 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

    Clone Names

    • MGC126570

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables alpha-ketoglutarate transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables alpha-ketoglutarate transmembrane transporter activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables alpha-ketoglutarate transmembrane transporter activity TAS
    Traceable Author Statement
    more info
    		  
    enables antiporter activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in lipid transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in lysine catabolic process TAS
    Traceable Author Statement
    more info
    		  
    involved_in mitochondrial alpha-ketoglutarate transmembrane transport IC
    Inferred by Curator
    more info
    		 PubMed 
    involved_in mitochondrial alpha-ketoglutarate transmembrane transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in mitochondrial inner membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in mitochondrial inner membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in mitochondrion HTP PubMed 

    General protein information

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    Preferred Names
    mitochondrial 2-oxodicarboxylate carrier
    Names
    mitochondrial 2-oxoadipate carrier
    oxodicarboxylate carrier
    solute carrier family 25 (mitochondrial oxoadipate carrier), member 21
    solute carrier family 25 (mitochondrial oxodicarboxylate carrier), member 21

    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_001171170.2 → NP_001164641.1  mitochondrial 2-oxodicarboxylate carrier isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) has a split 3' exon, as compared to variant 1. The resulting isoform (2) lacks the last aa, as compared to isoform 1.
      Source sequence(s)
      AJ278148, AK289575, AL079303
      Consensus CDS
      CCDS55913.1
      UniProtKB/Swiss-Prot
      Q9BQT8
      Related
      ENSP00000451873.1, ENST00000555449.5
      Conserved Domains (2) summary
      PTZ00168
      Location:12 → 283
      PTZ00168; mitochondrial carrier protein; Provisional
      pfam00153
      Location:15 → 105
      Mito_carr; Mitochondrial carrier protein

    2. NM_030631.4 → NP_085134.1  mitochondrial 2-oxodicarboxylate carrier isoform 1

      See identical proteins and their annotated locations for NP_085134.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) is the longer transcript and encodes isoform 1.
      Source sequence(s)
      AJ278148, AL079303
      Consensus CDS
      CCDS9663.1
      UniProtKB/Swiss-Prot
      A8K0L0, G3V4L5, Q3MJ99, Q9BQT8
      Related
      ENSP00000329452.5, ENST00000331299.6
      Conserved Domains (1) summary
      pfam00153
      Location:15 → 105
      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_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      36677921..37172606 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047431871.1 → XP_047287827.1  mitochondrial 2-oxodicarboxylate carrier isoform X1

    2. XM_011537288.4 → XP_011535590.1  mitochondrial 2-oxodicarboxylate carrier isoform X2

      Conserved Domains (1) summary
      pfam00153
      Location:175 → 268
      Mito_carr; Mitochondrial carrier protein

    3. XM_011537289.4 → XP_011535591.1  mitochondrial 2-oxodicarboxylate carrier isoform X3

      Conserved Domains (1) summary
      pfam00153
      Location:173 → 266
      Mito_carr; Mitochondrial carrier protein

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      30867261..31362039 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054376909.1 → XP_054232884.1  mitochondrial 2-oxodicarboxylate carrier isoform X1

    2. XM_054376910.1 → XP_054232885.1  mitochondrial 2-oxodicarboxylate carrier isoform X2

    3. XM_054376911.1 → XP_054232886.1  mitochondrial 2-oxodicarboxylate carrier isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BQT8.1 GenPept UniProtKB/Swiss-Prot:Q9BQT8

    Gene LinkOut

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

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