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    SLC25A52 solute carrier family 25 member 52 [ Homo sapiens (human) ]

    Gene ID: 147407, updated on 5-Mar-2024

    Summary

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    Official Symbol
    SLC25A52provided by HGNC
    Official Full Name
    solute carrier family 25 member 52provided by HGNC
    Primary source
    HGNC:HGNC:23324
    See related
    Ensembl:ENSG00000141437 MIM:616153; AllianceGenome:HGNC:23324
    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
    MCART2
    Summary
    This gene is similar to the mitochondrial carrier triple repeat 1 gene on chromosome 9. The gene is intronless and may be an evolving pseudogene; however, it is transcribed and it contains a full-length coding region so it is currently classified as a protein-coding locus. [provided by RefSeq, Jul 2008]
    Orthologs
    all
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    Genomic context

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    See SLC25A52 in Genome Data Viewer
    Location:
    18q12.1
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (31759584..31760880, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (31950093..31951389, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (29339547..29340843, complement)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene beta-1,4-galactosyltransferase 6 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr18:29303886-29305085 Neighboring gene leucine rich repeat containing 37 member A7, pseudogene Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr18:29318221-29319420 Neighboring gene golgi SNAP receptor complex member 2 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13207 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr18:29383595-29384386 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr18:29389007-29389784 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:29389785-29390562 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:29390563-29391340 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:29399375-29399875 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:29405731-29406276 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:29406277-29406822 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:29406823-29407368 Neighboring gene trafficking protein particle complex subunit 8 Neighboring gene MPRA-validated peak3103 silencer Neighboring gene family with sequence similarity 76 member A pseudogene Neighboring gene MPRA-validated peak3104 silencer Neighboring gene RNA, U6 small nuclear 1050, pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. SLC25A51 is a mammalian mitochondrial NAD(+) transporter. Luongo TS, et al. Nature, 2020 Dec. PMID 32906142, Free PMC Article
    2. The mitochondrial transporter family SLC25: identification, properties and physiopathology. Palmieri F. Mol Aspects Med, 2013 Apr-Jun. PMID 23266187
    3. Multilevel proteomics reveals host perturbations by SARS-CoV-2 and SARS-CoV. Stukalov A, et al. Nature, 2021 Jun. PMID 33845483
    4. Quantitative mapping of RNA-mediated nuclear estrogen receptor β interactome in human breast cancer cells. Giurato G, et al. Sci Data, 2018 Mar 6. PMID 29509190, Free PMC Article
    5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article

    See all (10) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Compares and contrasts all the known human SLC25A* genes and includes functional information.
      Title: The mitochondrial transporter family SLC25: identification, properties and physiopathology.
    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

    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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC120230, MGC120231, MGC120232

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables NAD transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables NAD transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in mitochondrial NAD transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mitochondrial NAD transmembrane transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in mitochondrial inner membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    mitochondrial nicotinamide adenine dinucleotide transporter SLC25A52
    Names
    mitochondrial NAD(+) transporter SLC25A52
    mitochondrial carrier triple repeat 2
    mitochondrial carrier triple repeat protein 2

    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_001034172.4 → NP_001029344.4  mitochondrial nicotinamide adenine dinucleotide transporter SLC25A52

      Status: VALIDATED

      Source sequence(s)
      AC022960, BC104001, DB057843
      Consensus CDS
      CCDS32812.3
      UniProtKB/Swiss-Prot
      Q3SY17
      UniProtKB/TrEMBL
      I3L0B8
      Related
      ENSP00000372612.4, ENST00000269205.7
      Conserved Domains (1) summary
      pfam00153
      Location:31 → 112
      Mito_carr; Mitochondrial carrier protein

    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_000018.10 Reference GRCh38.p14 Primary Assembly

      Range
      31759584..31760880 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060942.1 Alternate T2T-CHM13v2.0

      Range
      31950093..31951389 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q3SY17.2 GenPept UniProtKB/Swiss-Prot:Q3SY17

    Gene LinkOut

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

    Chemical Information
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