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    SLC25A43 solute carrier family 25 member 43 [ Homo sapiens (human) ]

    Gene ID: 203427, updated on 10-Dec-2024

    Summary

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    Official Symbol
    SLC25A43provided by HGNC
    Official Full Name
    solute carrier family 25 member 43provided by HGNC
    Primary source
    HGNC:HGNC:30557
    See related
    Ensembl:ENSG00000077713 MIM:300641; AllianceGenome:HGNC:30557
    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
    Summary
    This gene encodes a member of the mitochondrial carrier family of proteins.[provided by RefSeq, Dec 2009]
    Expression
    Ubiquitous expression in esophagus (RPKM 7.3), colon (RPKM 5.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SLC25A43 in Genome Data Viewer
    Location:
    Xq24
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (119399336..119454478)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (117777069..117832189)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (118533299..118588441)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 3098 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:118453061-118453562 Neighboring gene mitochondrial ribosomal protein S17 pseudogene 9 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20957 Neighboring gene RNA, U1 small nuclear 67, pseudogene Neighboring gene RNA, 7SL, cytoplasmic 118, pseudogene Neighboring gene Sharpr-MPRA regulatory region 3305 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20958 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20959 Neighboring gene SLC25A5 antisense RNA 1 Neighboring gene RNY3 pseudogene 16 Neighboring gene solute carrier family 25 member 5

    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. Mitochondrial regulation of cell cycle progression through SLC25A43. Gabrielson M, et al. Biochem Biophys Res Commun, 2016 Jan 22. PMID 26721434
    2. The mitochondrial transport protein SLC25A43 affects drug efficacy and drug-induced cell cycle arrest in breast cancer cell lines. Gabrielson M, et al. Oncol Rep, 2013 Apr. PMID 23354756, Free PMC Article
    3. The mitochondrial transporter SLC25A43 is frequently deleted and may influence cell proliferation in HER2-positive breast tumors. Tina E, et al. BMC Cancer, 2012 Aug 10. PMID 22883974, Free PMC Article
    4. DNA methylation pattern of the SLC25A43 gene in breast cancer. Lindqvist BM, et al. Epigenetics, 2012 Mar. PMID 22430806
    5. Genome-wide association identifies three new susceptibility loci for Paget's disease of bone. Albagha OM, et al. Nat Genet, 2011 May 29. PMID 21623375

    See all (16) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. In line with our previous results, we show a role for SLC25A43 as a regulator of cell cycle progression and proliferation through a putative mitochondrial checkpoint.
      Title: Mitochondrial regulation of cell cycle progression through SLC25A43.
    2. Our findings demonstrate that the mitochondrial protein SLC25A43 affects drug efficacy and cell cycle regulation following drug exposure in breast cancer cell lines.
      Title: The mitochondrial transport protein SLC25A43 affects drug efficacy and drug-induced cell cycle arrest in breast cancer cell lines.
    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. Our results indicate a possible role of SLC25A43 in HER2-positive breast cancer and support the hypothesis of altered mitochondrial function in cancer.
      Title: The mitochondrial transporter SLC25A43 is frequently deleted and may influence cell proliferation in HER2-positive breast tumors.
    5. associations between site-specific methylation and clinicopathological parameters suggest that epigenetic changes in SLC25A43 gene could be of importance in breast carcinogenesis.
      Title: DNA methylation pattern of the SLC25A43 gene in breast cancer.
    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

    EBI GWAS Catalog

    Description
    Genome-wide association identifies three new susceptibility loci for Paget's disease of bone.
    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)

    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

    Process Evidence Code Pubs
    involved_in transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in mitochondrial inner membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    solute carrier family 25 member 43

    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_016298.2 RefSeqGene

      Range
      5042..60184
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_145305.3 → NP_660348.2  solute carrier family 25 member 43

      See identical proteins and their annotated locations for NP_660348.2

      Status: REVIEWED

      Source sequence(s)
      AC004000, AC004973, BC071871, BM907537
      Consensus CDS
      CCDS14577.1
      UniProtKB/Swiss-Prot
      O75854, Q8N9L5, Q8WUT9
      UniProtKB/TrEMBL
      A8K7M0
      Related
      ENSP00000217909.7, ENST00000217909.8
      Conserved Domains (1) summary
      pfam00153
      Location:102 → 185
      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_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      119399336..119454478
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047441902.1 → XP_047297858.1  solute carrier family 25 member 43 isoform X3

      UniProtKB/TrEMBL
      B3KRB9

    2. XM_047441901.1 → XP_047297857.1  solute carrier family 25 member 43 isoform X1

      UniProtKB/TrEMBL
      B3KRB9

    3. XM_047441903.1 → XP_047297859.1  solute carrier family 25 member 43 isoform X4

      UniProtKB/TrEMBL
      B3KRB9

    4. XM_017029341.2 → XP_016884830.1  solute carrier family 25 member 43 isoform X5

      UniProtKB/TrEMBL
      B3KRB9

    5. XM_017029340.2 → XP_016884829.1  solute carrier family 25 member 43 isoform X2

      UniProtKB/TrEMBL
      B3KRB9

    RNA

    1. XR_938546.2 RNA Sequence

    2. XR_001755662.2 RNA Sequence

    3. XR_938547.2 RNA Sequence

    4. XR_938545.2 RNA Sequence

    5. XR_001755664.2 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      117777069..117832189
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054326654.1 → XP_054182629.1  solute carrier family 25 member 43 isoform X3

      UniProtKB/TrEMBL
      B3KRB9

    2. XM_054326652.1 → XP_054182627.1  solute carrier family 25 member 43 isoform X1

      UniProtKB/TrEMBL
      B3KRB9

    3. XM_054326655.1 → XP_054182630.1  solute carrier family 25 member 43 isoform X4

      UniProtKB/TrEMBL
      B3KRB9

    4. XM_054326656.1 → XP_054182631.1  solute carrier family 25 member 43 isoform X5

      UniProtKB/TrEMBL
      B3KRB9

    5. XM_054326653.1 → XP_054182628.1  solute carrier family 25 member 43 isoform X2

      UniProtKB/TrEMBL
      B3KRB9

    RNA

    1. XR_008485461.1 RNA Sequence

    2. XR_008485460.1 RNA Sequence

    3. XR_008485463.1 RNA Sequence

    4. XR_008485462.1 RNA Sequence

    5. XR_008485464.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8WUT9.2 GenPept UniProtKB/Swiss-Prot:Q8WUT9

    Gene LinkOut

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

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