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

Gene ID: 203427, updated on 3-Apr-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
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (119399336..119454478)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (117777069..117832189)
105.20220307 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)

Genotypes

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_2023_10

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

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

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

  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

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

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

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

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

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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