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    SLC25A42 solute carrier family 25 member 42 [ Homo sapiens (human) ]

    Gene ID: 284439, updated on 17-Mar-2024

    Summary

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    Official Symbol
    SLC25A42provided by HGNC
    Official Full Name
    solute carrier family 25 member 42provided by HGNC
    Primary source
    HGNC:HGNC:28380
    See related
    Ensembl:ENSG00000181035 MIM:610823; AllianceGenome:HGNC:28380
    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
    MECREN
    Summary
    This gene encodes a solute carrier family 25 protein. Solute carrier family 25 proteins are localized to mitochondria and play critical roles in the transport of molecules across the inner mitochondrial membrane. The encoded protein is a mitochondrial transporter for coenzyme A (CoA) and adenosine 3',5'-diphosphate. [provided by RefSeq, Feb 2012]
    Expression
    Broad expression in kidney (RPKM 18.3), liver (RPKM 12.3) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    19p13.11
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (19063994..19113030)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (19199813..19248846)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (19174803..19223839)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene SURP and G-patch domain containing 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10428 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:19162565-19163065 Neighboring gene armadillo repeat containing 6 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14335 Neighboring gene uncharacterized LOC124904655 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10429 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10430 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:19198769-19199269 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:19205587-19206086 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr19:19207400-19208599 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10431 Neighboring gene Sharpr-MPRA regulatory region 5014 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:19230026-19230212 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:19230180-19230759 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:19230760-19231338 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:19231339-19231917 Neighboring gene transmembrane protein 161A Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:19248669-19249530 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14337 Neighboring gene BORCS8-MEF2B readthrough Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14338 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10433 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14339 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:19271207-19272182 Neighboring gene myocyte enhancer factor 2B Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14340 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10435

    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
    • 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. Expanding the phenotype of SLC25A42-associated mitochondrial encephalomyopathy. Almannai M, et al. Clin Genet, 2018 May. PMID 29327420
    2. A novel member of solute carrier family 25 (SLC25A42) is a transporter of coenzyme A and adenosine 3',5'-diphosphate in human mitochondria. Fiermonte G, et al. J Biol Chem, 2009 Jul 3. PMID 19429682, Free PMC Article
    3. Fourteen novel human members of mitochondrial solute carrier family 25 (SLC25) widely expressed in the central nervous system. Haitina T, et al. Genomics, 2006 Dec. PMID 16949250
    4. The mitochondrial transporter family SLC25: identification, properties and physiopathology. Palmieri F. Mol Aspects Med, 2013 Apr-Jun. PMID 23266187
    5. The functional interactome landscape of the human histone deacetylase family. Joshi P, et al. Mol Syst Biol, 2013. PMID 23752268, Free PMC Article

    See all (13) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Novel role of host protein SLC25A42 in the HIV-1 reactivation of latent HIV-1 provirus.
      Title: Novel role of host protein SLC25A42 in the HIV-1 reactivation of latent HIV-1 provirus.
    2. our report confirms the link between SLC25A42 and mitochondrial disease in humans, and suggests that pathogenic variants in SLC25A42 should be interpreted with the understanding that the associated phenotype may be highly variable.
      Title: Expanding the phenotype of SLC25A42-associated mitochondrial encephalomyopathy.
    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. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    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. The main physiological role of SLC25A42 is to import CoA into mitochondria in exchange for intramitochondrial (deoxy)adenine nucleotides and adenosine 3',5'-diphosphate
      Title: A novel member of solute carrier family 25 (SLC25A42) is a transporter of coenzyme A and adenosine 3',5'-diphosphate in human mitochondria.
    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
    Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression
    MedGen: C5193083 OMIM: 618416 GeneReviews: Not available
    		Compare labs

    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

    • FLJ54826, MGC26694

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ADP phosphatase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables ADP transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables AMP transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables ATP transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables coenzyme A transmembrane transporter activity EXP
    Inferred from Experiment
    more info
    		 PubMed 
    enables coenzyme A transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in ADP transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in AMP transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in ATP transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in coenzyme A transmembrane transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in pantothenate metabolic process TAS
    Traceable Author Statement
    more info
    		  
    Component Evidence Code Pubs
    located_in mitochondrial inner membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleus HDA PubMed 

    General protein information

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    Preferred Names
    mitochondrial coenzyme A transporter SLC25A42

    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_050576.1 RefSeqGene

      Range
      5034..54070
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001321544.2 → NP_001308473.1  mitochondrial coenzyme A transporter SLC25A42

      Status: REVIEWED

      Source sequence(s)
      AC002126, AC003038, AC004143, BX099926
      Consensus CDS
      CCDS32966.1
      UniProtKB/Swiss-Prot
      D2T2J5, O14553, O43378, Q86VD7
      Conserved Domains (1) summary
      PTZ00169
      Location:34 → 295
      PTZ00169; ADP/ATP transporter on adenylate translocase; Provisional

    2. NM_178526.5 → NP_848621.2  mitochondrial coenzyme A transporter SLC25A42

      See identical proteins and their annotated locations for NP_848621.2

      Status: REVIEWED

      Source sequence(s)
      AC003038, AF521885, AI057363, FN356975
      Consensus CDS
      CCDS32966.1
      UniProtKB/Swiss-Prot
      D2T2J5, O14553, O43378, Q86VD7
      Related
      ENSP00000326693.6, ENST00000318596.8
      Conserved Domains (1) summary
      PTZ00169
      Location:34 → 295
      PTZ00169; ADP/ATP transporter on adenylate translocase; Provisional

    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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      19063994..19113030
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      19199813..19248846
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q86VD7.2 GenPept UniProtKB/Swiss-Prot:Q86VD7

    Gene LinkOut

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

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