SLC25A45 belongs to the SLC25 family of mitochondrial carrier proteins (Haitina et al., 2006 [PubMed 16949250]).[supplied by OMIM, Mar 2008] See more...

Aliases for SLC25A45 Gene

Aliases for SLC25A45 Gene

  • Solute Carrier Family 25 Member 45 2 3 4 5
  • Solute Carrier Family 25, Member 45 2
  • SLC25A45 5

External Ids for SLC25A45 Gene

Previous GeneCards Identifiers for SLC25A45 Gene

  • GC11M064900
  • GC11M065142
  • GC11M061469

Summaries for SLC25A45 Gene

Entrez Gene Summary for SLC25A45 Gene

  • SLC25A45 belongs to the SLC25 family of mitochondrial carrier proteins (Haitina et al., 2006 [PubMed 16949250]).[supplied by OMIM, Mar 2008]

GeneCards Summary for SLC25A45 Gene

SLC25A45 (Solute Carrier Family 25 Member 45) is a Protein Coding gene. Diseases associated with SLC25A45 include Developmental And Epileptic Encephalopathy 39 and Hartnup Disorder. An important paralog of this gene is SLC25A48.

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SLC25A45 Gene

Genomics for SLC25A45 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SLC25A45 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 SLC25A45 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SLC25A45

Top Transcription factor binding sites by QIAGEN in the SLC25A45 gene promoter:
  • AREB6
  • ATF6
  • CUTL1
  • HNF-4alpha1
  • HNF-4alpha2
  • HSF2
  • Lmo2
  • Pax-4a
  • RP58
  • Sp1

Genomic Locations for SLC25A45 Gene

Latest Assembly
chr11:65,375,192-65,383,701
(GRCh38/hg38)
Size:
8,510 bases
Orientation:
Minus strand

Previous Assembly
chr11:65,142,663-65,151,172
(GRCh37/hg19 by Entrez Gene)
Size:
8,510 bases
Orientation:
Minus strand

chr11:65,142,663-65,151,172
(GRCh37/hg19 by Ensembl)
Size:
8,510 bases
Orientation:
Minus strand

Genomic View for SLC25A45 Gene

Genes around SLC25A45 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC25A45 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC25A45 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC25A45 Gene

Proteins for SLC25A45 Gene

  • Protein details for SLC25A45 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N413-S2545_HUMAN
    Recommended name:
    Solute carrier family 25 member 45
    Protein Accession:
    Q8N413
    Secondary Accessions:
    • Q6PL49
    • Q8IW29

    Protein attributes for SLC25A45 Gene

    Size:
    288 amino acids
    Molecular mass:
    31906 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for SLC25A45 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC25A45 Gene

Post-translational modifications for SLC25A45 Gene

No Post-translational modifications

Antibodies for research

  • Santa Cruz Biotechnology (SCBT) Antibodies for SLC25A45

No data available for DME Specific Peptides for SLC25A45 Gene

Domains & Families for SLC25A45 Gene

Gene Families for SLC25A45 Gene

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

Protein Domains for SLC25A45 Gene

Suggested Antigen Peptide Sequences for SLC25A45 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ33871 fis, clone CTONG2006836, weakly similar to MITOCHONDRIAL CARNITINE/ACYLCARNITINE CARRIER PROTEIN (B3KR90_HUMAN)
  • Solute carrier family 25 member 45 (S2545_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8N413

UniProtKB/Swiss-Prot:

S2545_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 SLC25A45: view

Function for SLC25A45 Gene

Phenotypes From GWAS Catalog for SLC25A45 Gene

Gene Ontology (GO) - Molecular Function for SLC25A45 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005347 ATP transmembrane transporter activity IEA --
GO:0015227 acyl carnitine transmembrane transporter activity IBA 21873635
genes like me logo Genes that share ontologies with SLC25A45: view
genes like me logo Genes that share phenotypes with SLC25A45: view

miRNA for SLC25A45 Gene

miRTarBase miRNAs that target SLC25A45

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC25A45

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SLC25A45 Gene

Localization for SLC25A45 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC25A45 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 SLC25A45 gene
Compartment Confidence
mitochondrion 4
nucleus 2
cytosol 2
extracellular 1
lysosome 1
plasma membrane 0
peroxisome 0
endoplasmic reticulum 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SLC25A45 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 SLC25A45: view

Pathways & Interactions for SLC25A45 Gene

PathCards logo

SuperPathways for SLC25A45 Gene

No Data Available

Interacting Proteins for SLC25A45 Gene

Gene Ontology (GO) - Biological Process for SLC25A45 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006844 acyl carnitine transport IBA 21873635
GO:0006865 amino acid transport IBA 21873635
GO:0055085 transmembrane transport IEA --
GO:1902616 acyl carnitine transmembrane transport IEA --
genes like me logo Genes that share ontologies with SLC25A45: view

No data available for Pathways by source and SIGNOR curated interactions for SLC25A45 Gene

Drugs & Compounds for SLC25A45 Gene

No Compound Related Data Available

Transcripts for SLC25A45 Gene

mRNA/cDNA for SLC25A45 Gene

9 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
15 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC25A45

Alternative Splicing Database (ASD) splice patterns (SP) for SLC25A45 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c · 2d · 2e · 2f ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9a · 9b
SP1: - - - - - -
SP2: - - - -
SP3: - - - - -
SP4: - - - - - - - - - -
SP5: - - - - - - -
SP6: - - - - -
SP7: - - - -
SP8: - - - - - - -
SP9:
SP10: - - - - -

Relevant External Links for SLC25A45 Gene

GeneLoc Exon Structure for
SLC25A45

Expression for SLC25A45 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SLC25A45 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SLC25A45 Gene

This gene is overexpressed in Pancreas (x5.2).

Protein differential expression in normal tissues from HIPED for SLC25A45 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (66.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SLC25A45 Gene



Protein tissue co-expression partners for SLC25A45 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SLC25A45

SOURCE GeneReport for Unigene cluster for SLC25A45 Gene:

Hs.661604

Evidence on tissue expression from TISSUES for SLC25A45 Gene

  • Pancreas(4.3)
genes like me logo Genes that share expression patterns with SLC25A45: view

Primer products for research

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC25A45 Gene

Orthologs for SLC25A45 Gene

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

Orthologs for SLC25A45 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SLC25A45 30 31
  • 99.42 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SLC25A45 30 31
  • 88.54 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SLC25A45 30 31
  • 87.85 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Slc25a45 30
  • 84.2 (n)
Mouse
(Mus musculus)
Mammalia Slc25a45 30 17 31
  • 83.16 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia SLC25A45 31
  • 77 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia SLC25A45 31
  • 55 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia SLC25A45 31
  • 62 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia slc25a45 30
  • 58.39 (n)
Zebrafish
(Danio rerio)
Actinopterygii LOC100329446 30
  • 56.55 (n)
si:dkey-150i13.2 31
  • 33 (a)
ManyToMany
Fruit Fly
(Drosophila melanogaster)
Insecta CG5646 31
  • 34 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea R07B7.10 30 31
  • 44.73 (n)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YMC1 31
  • 27 (a)
ManyToMany
YMC2 31
  • 25 (a)
ManyToMany
Species where no ortholog for SLC25A45 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • Chicken (Gallus gallus)
  • 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)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (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)

Evolution for SLC25A45 Gene

ENSEMBL:
Gene Tree for SLC25A45 (if available)
TreeFam:
Gene Tree for SLC25A45 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SLC25A45: view image

Paralogs for SLC25A45 Gene

(13) SIMAP similar genes for SLC25A45 Gene using alignment to 6 proteins:

  • S2545_HUMAN
  • E9PJ15_HUMAN
  • E9PJQ3_HUMAN
  • E9PJW2_HUMAN
  • E9PK53_HUMAN
  • E9PMF0_HUMAN
genes like me logo Genes that share paralogs with SLC25A45: view

Variants for SLC25A45 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SLC25A45 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
rs624307 - p.Met224Val
rs7108281 - p.Arg251Gln

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SLC25A45 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for SLC25A45 Gene

Variant ID Type Subtype PubMed ID
esv2422285 CNV deletion 17116639
nsv526181 CNV gain 19592680
nsv951016 CNV deletion 24416366

Variation tolerance for SLC25A45 Gene

Residual Variation Intolerance Score: 88.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.85; 58.77% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SLC25A45 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC25A45

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC25A45 Gene

Disorders for SLC25A45 Gene

MalaCards: The human disease database

(2) MalaCards diseases for SLC25A45 Gene - From: COP

Disorder Aliases PubMed IDs
developmental and epileptic encephalopathy 39
  • dee39
hartnup disorder
  • hnd
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SLC25A45

genes like me logo Genes that share disorders with SLC25A45: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SLC25A45 Gene

Publications for SLC25A45 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
  2. ΔNp63α Suppresses TGFB2 Expression and RHOA Activity to Drive Cell Proliferation in Squamous Cell Carcinomas. (PMID: 30232004) Abraham CG … Espinosa JM (Cell reports 2018) 3
  3. Genome-wide association study on dimethylarginines reveals novel AGXT2 variants associated with heart rate variability but not with overall mortality. (PMID: 24159190) Seppälä I … AtheroRemo Consortium (European heart journal 2014) 3
  4. The mitochondrial transporter family SLC25: identification, properties and physiopathology. (PMID: 23266187) Palmieri F (Molecular aspects of medicine 2013) 3
  5. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3

Products for SLC25A45 Gene

Sources for SLC25A45 Gene