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Aliases for SLC25A48 Gene

Aliases for SLC25A48 Gene

  • Solute Carrier Family 25 Member 48 2 3 5
  • HCC-Down-Regulated Mitochondrial Carrier Protein 2
  • Solute Carrier Family 25, Member 48 2
  • CTC-321K16.1 3

External Ids for SLC25A48 Gene

Previous GeneCards Identifiers for SLC25A48 Gene

  • GC05P135170
  • GC05P130358

Summaries for SLC25A48 Gene

GeneCards Summary for SLC25A48 Gene

SLC25A48 (Solute Carrier Family 25 Member 48) is a Protein Coding gene. An important paralog of this gene is SLC25A45.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC25A48 Gene

Genomics for SLC25A48 Gene

Regulatory Elements for SLC25A48 Gene

Enhancers for SLC25A48 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH05F135834 0.9 ENCODE 19 +0.3 335 0.9 TBP ZNF76 KLF17 GLIS2 ZNF366 SCRT2 ZNF143 ZNF263 NFYC ZEB2 SLC25A48 GC05P135837
GH05F135704 0.7 ENCODE 11.1 -129.0 -129002 1.7 GFI1B INSM2 ZFP37 ZNF324 ZNF366 PBX2 PRDM10 ZNF600 SP7 EZH2 LOC107986453 SLC25A48 GC05P135690 PIR36208
GH05F135992 1.4 FANTOM5 Ensembl ENCODE 4.2 +160.5 160507 5.0 ARNT MLX SIN3A NFXL1 RAD21 RARA FOS THAP11 SMARCA5 ZNF654 LECT2 SMAD5 ENSG00000254239 IL9 SMAD5-AS1 TGFBI SLC25A48 GC05P136002
GH05F135642 0.8 ENCODE 6.4 -191.7 -191724 1.7 PKNOX1 FEZF1 ZIC2 GATA3 CTBP1 RCOR1 FOS EZH2 TCF7L2 MTA2 ENSG00000250167 CXCL14 SLC25A48 PIR41323 GC05P135637
GH05F135653 0.6 ENCODE 5.5 -179.8 -179753 3.0 ARID1B NCOR1 HLF TAL1 ZEB2 DPF2 SLC25A48 DDX46 LINC01959 GC05P135690
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SLC25A48 on UCSC Golden Path with GeneCards custom track

Promoters for SLC25A48 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001874028 251 601 ZNF76 KLF17 RAD21 GLIS2 SCRT2 ZNF143 ZNF263 NFYC ZEB2 TGIF2

Genomic Location for SLC25A48 Gene

Chromosome:
5
Start:
135,834,649 bp from pter
End:
135,888,637 bp from pter
Size:
53,989 bases
Orientation:
Plus strand

Genomic View for SLC25A48 Gene

Genes around SLC25A48 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC25A48 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC25A48 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC25A48 Gene

Proteins for SLC25A48 Gene

  • Protein details for SLC25A48 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6ZT89-S2548_HUMAN
    Recommended name:
    Solute carrier family 25 member 48
    Protein Accession:
    Q6ZT89
    Secondary Accessions:
    • Q8TAV9

    Protein attributes for SLC25A48 Gene

    Size:
    311 amino acids
    Molecular mass:
    33440 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for SLC25A48 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC25A48 Gene

Post-translational modifications for SLC25A48 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for SLC25A48 Gene

Domains & Families for SLC25A48 Gene

Gene Families for SLC25A48 Gene

Protein Domains for SLC25A48 Gene

Suggested Antigen Peptide Sequences for SLC25A48 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q6ZT89

UniProtKB/Swiss-Prot:

S2548_HUMAN :
  • Belongs to the mitochondrial carrier (TC 2.A.29) family.
  • Contains 3 Solcar repeats.
Family:
  • Belongs to the mitochondrial carrier (TC 2.A.29) family.
Similarity:
  • Contains 3 Solcar repeats.
genes like me logo Genes that share domains with SLC25A48: view

Function for SLC25A48 Gene

Gene Ontology (GO) - Molecular Function for SLC25A48 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with SLC25A48: view
genes like me logo Genes that share phenotypes with SLC25A48: view

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for SLC25A48 Gene

Localization for SLC25A48 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC25A48 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 SLC25A48 gene
Compartment Confidence
mitochondrion 4
cytoskeleton 2
plasma membrane 1
extracellular 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1
cytosol 1

Gene Ontology (GO) - Cellular Components for SLC25A48 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 SLC25A48: view

Pathways & Interactions for SLC25A48 Gene

SuperPathways for SLC25A48 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SLC25A48 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0055085 transmembrane transport IEA --
genes like me logo Genes that share ontologies with SLC25A48: view

No data available for Pathways by source and SIGNOR curated interactions for SLC25A48 Gene

Transcripts for SLC25A48 Gene

Unigene Clusters for SLC25A48 Gene

Solute carrier family 25, member 48:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLC25A48 Gene

No ASD Table

Relevant External Links for SLC25A48 Gene

GeneLoc Exon Structure for
SLC25A48
ECgene alternative splicing isoforms for
SLC25A48

Expression for SLC25A48 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SLC25A48 Gene

mRNA differential expression in normal tissues according to GTEx for SLC25A48 Gene

This gene is overexpressed in Nerve - Tibial (x12.3), Brain - Amygdala (x4.3), and Brain - Hippocampus (x4.3).

Protein differential expression in normal tissues from HIPED for SLC25A48 Gene

This gene is overexpressed in Blymphocyte (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SLC25A48 Gene



Protein tissue co-expression partners for SLC25A48 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SLC25A48 Gene:

SLC25A48

SOURCE GeneReport for Unigene cluster for SLC25A48 Gene:

Hs.412418
genes like me logo Genes that share expression patterns with SLC25A48: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for SLC25A48 Gene

Orthologs for SLC25A48 Gene

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

Orthologs for SLC25A48 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC25A48 35
  • 47 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SLC25A48 35
  • 44 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SLC25A48 35
  • 42 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Slc25a48 35
  • 41 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SLC25A48 35
  • 39 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC25A48 35
  • 8 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC25A48 35
  • 29 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SLC25A48 35
  • 34 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.8530 34
zebrafish
(Danio rerio)
Actinopterygii slc25a48 35
  • 31 (a)
OneToOne
Dr.28307 34
fruit fly
(Drosophila melanogaster)
Insecta CG5646 35
  • 16 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea R07B7.10 35
  • 18 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YMC2 35
  • 16 (a)
ManyToMany
YMC1 35
  • 14 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 21 (a)
OneToOne
Species where no ortholog for SLC25A48 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)
  • 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)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)

Evolution for SLC25A48 Gene

ENSEMBL:
Gene Tree for SLC25A48 (if available)
TreeFam:
Gene Tree for SLC25A48 (if available)

Paralogs for SLC25A48 Gene

Paralogs for SLC25A48 Gene

(8) SIMAP similar genes for SLC25A48 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with SLC25A48: view

Variants for SLC25A48 Gene

Sequence variations from dbSNP and Humsavar for SLC25A48 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs10036217 -- 135,682,486(+) TATGT(C/G)TGTGC intron-variant
rs10036494 -- 135,853,541(+) tttct(C/T)atcca intron-variant
rs10036523 -- 135,853,632(+) tagtt(C/G)tcttg intron-variant
rs10037519 -- 135,726,862(+) gttgc(A/C)tattt intron-variant
rs10037704 -- 135,776,273(+) ggggg(C/G/T)ggggg intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SLC25A48 Gene

Variant ID Type Subtype PubMed ID
dgv5812n100 CNV gain 25217958
esv2759380 CNV loss 17122850
esv3425060 CNV insertion 20981092
esv3570424 CNV loss 25503493
nsv1028952 CNV gain 25217958
nsv1032841 CNV gain 25217958
nsv508380 CNV deletion 20534489

Variation tolerance for SLC25A48 Gene

Residual Variation Intolerance Score: 68.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.31; 26.09% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SLC25A48 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC25A48

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC25A48 Gene

Disorders for SLC25A48 Gene

Relevant External Links for SLC25A48

Human Genome Epidemiology (HuGE) Navigator
SLC25A48
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SLC25A48

No disorders were found for SLC25A48 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SLC25A48 Gene

Publications for SLC25A48 Gene

  1. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3 64
  2. The mitochondrial transporter family SLC25: identification, properties and physiopathology. (PMID: 23266187) Palmieri F. (Mol. Aspects Med. 2013) 3 64
  3. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (PMID: 23251661) Comuzzie A.G. … Butte N.F. (PLoS ONE 2012) 3 64
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 64
  5. HDMCP uncouples yeast mitochondrial respiration and alleviates steatosis in L02 and hepG2 cells by decreasing ATP and H2O2 levels: a novel mechanism for NAFLD. (PMID: 19303656) Jin X. … Li Y.M. (J. Hepatol. 2009) 2 64

Products for SLC25A48 Gene

Sources for SLC25A48 Gene

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