This gene encodes a member of the mitochondrial carrier family of proteins.[provided by RefSeq, Dec 2009] See more...

Aliases for SLC25A43 Gene

Aliases for SLC25A43 Gene

  • Solute Carrier Family 25 Member 43 2 3 4 5
  • Solute Carrier Family 25, Member 43 2

External Ids for SLC25A43 Gene

Previous GeneCards Identifiers for SLC25A43 Gene

  • GC0XP118398
  • GC0XP118533
  • GC0XP108026

Summaries for SLC25A43 Gene

Entrez Gene Summary for SLC25A43 Gene

  • This gene encodes a member of the mitochondrial carrier family of proteins.[provided by RefSeq, Dec 2009]

GeneCards Summary for SLC25A43 Gene

SLC25A43 (Solute Carrier Family 25 Member 43) is a Protein Coding gene. Diseases associated with SLC25A43 include Mental Retardation, X-Linked, Syndromic, Martin-Probst Type and Paget's Disease Of Bone. An important paralog of this gene is SLC25A16.

Additional gene information for SLC25A43 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SLC25A43 Gene

Genomics for SLC25A43 Gene

GeneHancer (GH) Regulatory Elements for SLC25A43 Gene

Promoters and enhancers for SLC25A43 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SLC25A43 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SLC25A43

Top Transcription factor binding sites by QIAGEN in the SLC25A43 gene promoter:
  • ATF6
  • CUTL1
  • E47
  • IRF-7A
  • MZF-1
  • Pax-5
  • Sp1
  • STAT3
  • TBP
  • XBP-1

Genomic Locations for SLC25A43 Gene

Genomic Locations for SLC25A43 Gene
chrX:119,399,295-119,454,478
(GRCh38/hg38)
Size:
55,184 bases
Orientation:
Plus strand
chrX:118,533,023-118,588,441
(GRCh37/hg19)
Size:
55,419 bases
Orientation:
Plus strand

Genomic View for SLC25A43 Gene

Genes around SLC25A43 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC25A43 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC25A43 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC25A43 Gene

Proteins for SLC25A43 Gene

  • Protein details for SLC25A43 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WUT9-S2543_HUMAN
    Recommended name:
    Solute carrier family 25 member 43
    Protein Accession:
    Q8WUT9
    Secondary Accessions:
    • O75854
    • Q8N9L5

    Protein attributes for SLC25A43 Gene

    Size:
    341 amino acids
    Molecular mass:
    37718 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAC62432.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for SLC25A43 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC25A43 Gene

Post-translational modifications for SLC25A43 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SLC25A43 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SLC25A43 Gene

Domains & Families for SLC25A43 Gene

Gene Families for SLC25A43 Gene

Protein Domains for SLC25A43 Gene

Blocks:
  • Mitochondrial carrier protein signature
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SLC25A43 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ33985 fis, clone DFNES2005766, weakly similar to GRAVE'S DISEASE CARRIER PROTEIN (B3KRB9_HUMAN)
  • cDNA FLJ58871 (B4E1P8_HUMAN)
  • Solute carrier family 25 member 43 (S2543_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8WUT9

UniProtKB/Swiss-Prot:

S2543_HUMAN :
  • Belongs to the mitochondrial carrier (TC 2.A.29) family.
Family:
  • Belongs to the mitochondrial carrier (TC 2.A.29) family.
genes like me logo Genes that share domains with SLC25A43: view

Function for SLC25A43 Gene

Phenotypes From GWAS Catalog for SLC25A43 Gene

Gene Ontology (GO) - Molecular Function for SLC25A43 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0022857 transmembrane transporter activity IEA --
genes like me logo Genes that share ontologies with SLC25A43: view

Phenotypes for SLC25A43 Gene

genes like me logo Genes that share phenotypes with SLC25A43: view

Animal Model Products

  • Taconic Biosciences Mouse Models for SLC25A43

CRISPR Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SLC25A43 Gene

Localization for SLC25A43 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC25A43 Gene

Mitochondrion inner membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SLC25A43 gene
Compartment Confidence
mitochondrion 4
extracellular 1
peroxisome 1
nucleus 1
cytosol 1
endoplasmic reticulum 0
golgi apparatus 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for SLC25A43 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005743 mitochondrial inner membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SLC25A43: view

Pathways & Interactions for SLC25A43 Gene

PathCards logo

SuperPathways for SLC25A43 Gene

No Data Available

Interacting Proteins for SLC25A43 Gene

;

Gene Ontology (GO) - Biological Process for SLC25A43 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0055085 transmembrane transport IEA --
genes like me logo Genes that share ontologies with SLC25A43: view

No data available for Pathways by source and SIGNOR curated interactions for SLC25A43 Gene

Drugs & Compounds for SLC25A43 Gene

No Compound Related Data Available

Transcripts for SLC25A43 Gene

mRNA/cDNA for SLC25A43 Gene

1 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLC25A43 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5a · 5b ^ 6
SP1: - - -
SP2: -
SP3:

Relevant External Links for SLC25A43 Gene

GeneLoc Exon Structure for
SLC25A43

Expression for SLC25A43 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SLC25A43 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SLC25A43 Gene

This gene is overexpressed in Heart (64.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SLC25A43 Gene



Protein tissue co-expression partners for SLC25A43 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SLC25A43

SOURCE GeneReport for Unigene cluster for SLC25A43 Gene:

Hs.496658

Evidence on tissue expression from TISSUES for SLC25A43 Gene

  • Lung(4.2)
  • Nervous system(4)
genes like me logo Genes that share expression patterns with SLC25A43: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC25A43 Gene

Orthologs for SLC25A43 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SLC25A43 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC25A43 31 30
  • 99.7 (n)
OneToOne
cow
(Bos Taurus)
Mammalia SLC25A43 31 30
  • 90.91 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SLC25A43 31 30
  • 88.86 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Slc25a43 17 31 30
  • 85.84 (n)
rat
(Rattus norvegicus)
Mammalia Slc25a43 30
  • 84.36 (n)
oppossum
(Monodelphis domestica)
Mammalia SLC25A43 31
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC25A43 31
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC25A43 31 30
  • 72.88 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SLC25A43 31
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia slc25a43 30
  • 64.44 (n)
zebrafish
(Danio rerio)
Actinopterygii slc25a43 31 30
  • 61.83 (n)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes LEU5 31
  • 21 (a)
OneToMany
Species where no ortholog for SLC25A43 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SLC25A43 Gene

ENSEMBL:
Gene Tree for SLC25A43 (if available)
TreeFam:
Gene Tree for SLC25A43 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SLC25A43: view image

Paralogs for SLC25A43 Gene

(3) SIMAP similar genes for SLC25A43 Gene using alignment to 2 proteins:

  • S2543_HUMAN
  • B4E1P8_HUMAN

Pseudogenes.org Pseudogenes for SLC25A43 Gene

genes like me logo Genes that share paralogs with SLC25A43: view

Variants for SLC25A43 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SLC25A43 Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
rs3810755 - p.Pro334Leu

Additional dbSNP identifiers (rs#s) for SLC25A43 Gene

Structural Variations from Database of Genomic Variants (DGV) for SLC25A43 Gene

Variant ID Type Subtype PubMed ID
nsv476428 CNV novel sequence insertion 20440878
nsv518389 CNV loss 19592680

Variation tolerance for SLC25A43 Gene

Residual Variation Intolerance Score: 40.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.39; 8.65% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SLC25A43 Gene

Human Gene Mutation Database (HGMD)
SLC25A43
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC25A43

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC25A43 Gene

Disorders for SLC25A43 Gene

MalaCards: The human disease database

(2) MalaCards diseases for SLC25A43 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
mental retardation, x-linked, syndromic, martin-probst type
  • mrxsmp
paget's disease of bone
  • familial paget's disease of bone
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SLC25A43

genes like me logo Genes that share disorders with SLC25A43: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SLC25A43 Gene

Publications for SLC25A43 Gene

  1. Fourteen novel human members of mitochondrial solute carrier family 25 (SLC25) widely expressed in the central nervous system. (PMID: 16949250) Haitina T … Fredriksson R (Genomics 2006) 2 3 4 54
  2. Genome-wide association identifies three new susceptibility loci for Paget's disease of bone. (PMID: 21623375) Albagha OM … Genetic Determinants of Paget's Disease (GDPD) Consortium (Nature genetics 2011) 3 41 54
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 54
  5. RNA-binding activity of TRIM25 is mediated by its PRY/SPRY domain and is required for ubiquitination. (PMID: 29117863) Choudhury NR … Michlewski G (BMC biology 2017) 3 54

Products for SLC25A43 Gene

Sources for SLC25A43 Gene