Aliases for SLC25A48 Gene

Aliases for SLC25A48 Gene

  • Solute Carrier Family 25 Member 48 2 3 4 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
  • GC05P135836

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.

Additional gene information for SLC25A48 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SLC25A48 Gene

Genomics for SLC25A48 Gene

GeneHancer (GH) Regulatory Elements for SLC25A48 Gene

Promoters and enhancers for SLC25A48 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05J135834 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 518.6 +255.8 255754 1.3 CTCF ZSCAN5C NRF1 ZNF10 ZIC2 ZBTB10 ZBTB26 ATF2 HDAC2 EZH2 SLC25A48 ENSG00000250167 piR-41880-021 lnc-TGFBI-4
GH05J135578 Promoter 1 EPDnew Ensembl 500.7 -0.4 -401 1.2 FOS EZH2 JUND RNF2 HDAC2 ZNF274 SUZ12 CEBPB CXCL14 SLC25A48 ENSG00000250167 piR-50585 RF00017-4906
GH05J135859 Enhancer 0.6 Ensembl 20.9 +283.9 283899 7.4 CEBPB CEBPG FOS ATF4 HLF JUND JUN ATF7 ZSCAN4 STAT3 SLC25A48 ENSG00000254239 IL9 LOC107986453 ENSG00000250167 lnc-TGFBI-4 piR-41880-021
GH05J135829 Enhancer 0.7 Ensembl 15.1 +251.0 251002 0.6 CTCF REST RAD21 TRIM22 SMC3 RBM25 BCOR MYC ZNF189 ZNF654 SLC25A48 piR-41880-021 lnc-TGFBI-4
GH05J135704 Enhancer 0.8 Ensembl ENCODE 11.1 +126.4 126442 1.7 ZNF184 FOS PBX2 ZBTB1 GATA3 ZNF189 ZFP37 ZNF324 INSM2 ZNF366 LOC107986453 SLC25A48 lnc-CXCL14-2 piR-41245-230 RF00017-4906
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SLC25A48 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SLC25A48

Genomic Locations for SLC25A48 Gene

Genomic Locations for SLC25A48 Gene
chr5:135,579,202-135,889,770
(GRCh38/hg38)
Size:
310,569 bases
Orientation:
Plus strand
chr5:135,170,338-135,224,326
(GRCh37/hg19)
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

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

Protein Domains for SLC25A48 Gene

Suggested Antigen Peptide Sequences for SLC25A48 Gene

GenScript: Design optimal peptide antigens:
  • Solute carrier family 25 member 48 (S2548_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q6ZT89

UniProtKB/Swiss-Prot:

S2548_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 SLC25A48: view

Function for SLC25A48 Gene

Phenotypes From GWAS Catalog 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
GO:0015227 acyl carnitine transmembrane transporter activity IBA 21873635
GO:0022857 transmembrane transporter activity IEA --
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

CRISPR Products

Clone 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
extracellular 1
peroxisome 1
endoplasmic reticulum 1
plasma membrane 0
nucleus 0
cytosol 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Actin filaments (2)
  • Intermediate filaments (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SLC25A48 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
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

PathCards logo

SuperPathways for SLC25A48 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SLC25A48 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006844 acyl carnitine transport IBA 21873635
GO:0055085 transmembrane transport IEA --
GO:1902616 acyl carnitine 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

Drugs & Compounds for SLC25A48 Gene

No Compound Related Data Available

Transcripts for SLC25A48 Gene

mRNA/cDNA for SLC25A48 Gene

4 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
10 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 SLC25A48 Gene

No ASD Table

Relevant External Links for SLC25A48 Gene

GeneLoc Exon Structure 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 and MOPED for SLC25A48 Gene



Protein tissue co-expression partners for SLC25A48 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SLC25A48

SOURCE GeneReport for Unigene cluster for SLC25A48 Gene:

Hs.412418

Evidence on tissue expression from TISSUES for SLC25A48 Gene

  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with SLC25A48: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 31
  • 47 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SLC25A48 31
  • 44 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SLC25A48 31
  • 42 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Slc25a48 31
  • 41 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SLC25A48 31
  • 39 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC25A48 31
  • 8 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC25A48 31
  • 29 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SLC25A48 31
  • 34 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.8530 30
zebrafish
(Danio rerio)
Actinopterygii slc25a48 31
  • 31 (a)
OneToOne
Dr.28307 30
fruit fly
(Drosophila melanogaster)
Insecta CG5646 31
  • 16 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea R07B7.10 31
  • 18 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YMC2 31
  • 16 (a)
ManyToMany
YMC1 31
  • 14 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for SLC25A48: view image

Paralogs for SLC25A48 Gene

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

  • S2548_HUMAN
  • C9JM56_HUMAN
  • D6RFW8_HUMAN
  • J3KQI1_HUMAN
genes like me logo Genes that share paralogs with SLC25A48: view

Variants for SLC25A48 Gene

Additional dbSNP identifiers (rs#s) for SLC25A48 Gene

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)

Additional Variant Information for SLC25A48 Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SLC25A48 Gene

Disorders for SLC25A48 Gene

Additional Disease Information for 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. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 54
  2. Cell cycle-dependent phosphorylation regulates RECQL4 pathway choice and ubiquitination in DNA double-strand break repair. (PMID: 29229926) Lu H … Bohr VA (Nature communications 2017) 3 54
  3. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T … Vidal M (Cell 2014) 3 54
  4. The mitochondrial transporter family SLC25: identification, properties and physiopathology. (PMID: 23266187) Palmieri F (Molecular aspects of medicine 2013) 3 54
  5. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (PMID: 23251661) Comuzzie AG … Butte NF (PloS one 2012) 3 54

Products for SLC25A48 Gene

Sources for SLC25A48 Gene