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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
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Genomic context

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See SLC25A42 in Genome Data Viewer
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
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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

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