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Aliases for SLC25A53 Gene

Aliases for SLC25A53 Gene

  • Solute Carrier Family 25 Member 53 2 3 5
  • Mitochondrial Carrier Triple Repeat Protein 6 3 4
  • MCART6 3 4
  • Mitochondrial Carrier Triple Repeat 6 2
  • Solute Carrier Family 25, Member 53 2

External Ids for SLC25A53 Gene

Previous HGNC Symbols for SLC25A53 Gene

  • MCART6

Previous GeneCards Identifiers for SLC25A53 Gene

  • GC0XM103344

Summaries for SLC25A53 Gene

GeneCards Summary for SLC25A53 Gene

SLC25A53 (Solute Carrier Family 25 Member 53) is a Protein Coding gene. An important paralog of this gene is SLC25A51.

Additional gene information for SLC25A53 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC25A53 Gene

Genomics for SLC25A53 Gene

GeneHancer (GH) Regulatory Elements for SLC25A53 Gene

Promoters and enhancers for SLC25A53 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
GH0XI104155 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 550.8 +0.2 190 2.5 HDGF PKNOX1 FOXA2 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF213 SLC25A53 ENSG00000235946 LOC286437
GH0XI104165 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 11.5 -9.9 -9902 3.3 ATF1 ARNT ZFP64 SIN3A ZNF2 ZNF121 POLR2B GLIS2 ELK1 ZNF207 FAM199X SLC25A53 GC0XM104199
GH0XI103917 Promoter/Enhancer 1.3 Ensembl ENCODE 12.9 +237.9 237934 2.8 PKNOX1 SIN3A ZNF335 GLIS2 SCRT2 BCLAF1 EGR2 SMARCA5 SP3 ZNF654 LOC100128594 TMSB15B H2BFM ENSG00000235946 SLC25A53 FAM199X RAB9B
GH0XI104108 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 7.8 +46.0 45977 5.5 PKNOX1 SIN3A RAD21 ZNF335 GLIS2 ZNF366 SCRT2 EGR2 ZNF654 ZBTB11 ZCCHC18 H2BFM FAM199X SLC25A53 LOC101060236
GH0XI103962 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE 8.7 +194.1 194126 1.8 GTF2F1 ESRRA NFIB NEUROD1 RFX5 ZNF335 ZFHX2 POLR2A ZSCAN29 ZNF600 GC0XM103962 DPPA3P1 TMSB15B FAM199X SLC25A53 H2BFXP
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SLC25A53 on UCSC Golden Path with GeneCards custom track

Genomic Locations for SLC25A53 Gene

Genomic Locations for SLC25A53 Gene
chrX:104,099,214-104,157,027
(GRCh38/hg38)
Size:
57,814 bases
Orientation:
Minus strand
chrX:103,343,898-103,401,708
(GRCh37/hg19)

Genomic View for SLC25A53 Gene

Genes around SLC25A53 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC25A53 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC25A53 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC25A53 Gene

Proteins for SLC25A53 Gene

  • Protein details for SLC25A53 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5H9E4-S2553_HUMAN
    Recommended name:
    Solute carrier family 25 member 53
    Protein Accession:
    Q5H9E4
    Secondary Accessions:
    • B2RTT9

    Protein attributes for SLC25A53 Gene

    Size:
    307 amino acids
    Molecular mass:
    34481 Da
    Quaternary structure:
    No Data Available

neXtProt entry for SLC25A53 Gene

Post-translational modifications for SLC25A53 Gene

No Post-translational modifications

Other Protein References for SLC25A53 Gene

No data available for DME Specific Peptides for SLC25A53 Gene

Domains & Families for SLC25A53 Gene

Gene Families for SLC25A53 Gene

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

Protein Domains for SLC25A53 Gene

Suggested Antigen Peptide Sequences for SLC25A53 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q5H9E4

UniProtKB/Swiss-Prot:

S2553_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 SLC25A53: view

Function for SLC25A53 Gene

Gene Ontology (GO) - Molecular Function for SLC25A53 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0022857 transmembrane transporter activity IBA --
genes like me logo Genes that share ontologies with SLC25A53: view

Phenotypes for SLC25A53 Gene

GenomeRNAi human phenotypes for SLC25A53:
genes like me logo Genes that share phenotypes with SLC25A53: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SLC25A53 Gene

Localization for SLC25A53 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC25A53 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 SLC25A53 gene
Compartment Confidence
mitochondrion 4
peroxisome 2
plasma membrane 1
extracellular 1
nucleus 1
cytosol 1

Gene Ontology (GO) - Cellular Components for SLC25A53 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005743 mitochondrial inner membrane IBA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IBA --
genes like me logo Genes that share ontologies with SLC25A53: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SLC25A53 Gene

Pathways & Interactions for SLC25A53 Gene

SuperPathways for SLC25A53 Gene

No Data Available

Interacting Proteins for SLC25A53 Gene

Gene Ontology (GO) - Biological Process for SLC25A53 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006839 mitochondrial transport IBA --
GO:0055085 transmembrane transport IEA --
genes like me logo Genes that share ontologies with SLC25A53: view

No data available for Pathways by source and SIGNOR curated interactions for SLC25A53 Gene

Drugs & Compounds for SLC25A53 Gene

No Compound Related Data Available

Transcripts for SLC25A53 Gene

mRNA/cDNA for SLC25A53 Gene

(7) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(14) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for SLC25A53 Gene

Solute carrier family 25, member 53:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLC25A53 Gene

No ASD Table

Relevant External Links for SLC25A53 Gene

GeneLoc Exon Structure for
SLC25A53
ECgene alternative splicing isoforms for
SLC25A53

Expression for SLC25A53 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SLC25A53 Gene

Protein differential expression in normal tissues from HIPED for SLC25A53 Gene

This gene is overexpressed in CD8 Tcells (56.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SLC25A53 Gene



Protein tissue co-expression partners for SLC25A53 Gene

NURSA nuclear receptor signaling pathways regulating expression of SLC25A53 Gene:

SLC25A53

SOURCE GeneReport for Unigene cluster for SLC25A53 Gene:

Hs.660022

Evidence on tissue expression from TISSUES for SLC25A53 Gene

  • Nervous system(4.1)
genes like me logo Genes that share expression patterns with SLC25A53: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC25A53 Gene

Orthologs for SLC25A53 Gene

This gene was present in the common ancestor of chordates.

Orthologs for SLC25A53 Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia SLC25A53 33
  • 92.79 (n)
cow
(Bos Taurus)
Mammalia MCART6 33
  • 90.27 (n)
rat
(Rattus norvegicus)
Mammalia Mcart1l 33
  • 87.65 (n)
mouse
(Mus musculus)
Mammalia Slc25a53 33 16
  • 86.95 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100489481 33
  • 57.72 (n)
Species where no ortholog for SLC25A53 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)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • chimpanzee (Pan troglodytes)
  • 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)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • 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)
  • zebrafish (Danio rerio)

Evolution for SLC25A53 Gene

ENSEMBL:
Gene Tree for SLC25A53 (if available)
TreeFam:
Gene Tree for SLC25A53 (if available)

Paralogs for SLC25A53 Gene

Paralogs for SLC25A53 Gene

(2) SIMAP similar genes for SLC25A53 Gene using alignment to 1 proteins:

Pseudogenes.org Pseudogenes for SLC25A53 Gene

genes like me logo Genes that share paralogs with SLC25A53: view

Variants for SLC25A53 Gene

Sequence variations from dbSNP and Humsavar for SLC25A53 Gene

SNP ID Clin Chr 0X pos Variation AA Info Type
rs1000501928 -- 104,130,734(-) A/G genic_upstream_transcript_variant, intron_variant
rs1000582685 -- 104,120,809(-) A/T genic_upstream_transcript_variant, intron_variant
rs1000650704 -- 104,123,502(-) G/A/T genic_upstream_transcript_variant, intron_variant
rs1000950787 -- 104,152,109(-) G/A genic_upstream_transcript_variant, intron_variant
rs1001018946 -- 104,140,154(-) A/T genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for SLC25A53 Gene

Variant ID Type Subtype PubMed ID
esv2740366 CNV deletion 23290073
esv2758880 CNV gain 17122850
nsv469772 CNV gain 16826518
nsv519626 CNV gain 19592680
nsv7453 OTHER inversion 18451855

Variation tolerance for SLC25A53 Gene

Residual Variation Intolerance Score: 66% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.83; 17.43% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SLC25A53 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC25A53

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC25A53 Gene

Disorders for SLC25A53 Gene

Additional Disease Information for SLC25A53

No disorders were found for SLC25A53 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SLC25A53 Gene

Publications for SLC25A53 Gene

  1. The DNA sequence of the human X chromosome. (PMID: 15772651) Ross MT … Bentley DR (Nature 2005) 3 4 58
  2. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  3. The mitochondrial transporter family SLC25: identification, properties and physiopathology. (PMID: 23266187) Palmieri F (Molecular aspects of medicine 2013) 3 58
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 4 58
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 3 58

Products for SLC25A53 Gene

Sources for SLC25A53 Gene

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