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Aliases for SLC25A30 Gene

Aliases for SLC25A30 Gene

  • Solute Carrier Family 25 Member 30 2 3 4 5
  • Solute Carrier Family 25, Member 30 2 3
  • KMCP1 3 4

External Ids for SLC25A30 Gene

Previous GeneCards Identifiers for SLC25A30 Gene

  • GC13M043766
  • GC13M044865
  • GC13M045967
  • GC13M026765

Summaries for SLC25A30 Gene

Entrez Gene Summary for SLC25A30 Gene

  • Although the outer mitochondrial membrane is permeable to many small metabolites, transport of solutes across the inner mitochondrial membrane is achieved by members of the mitochondrial carrier protein family, such as SLC25A30 (Haguenauer et al., 2005 [PubMed 15809292]).[supplied by OMIM, Mar 2008]

GeneCards Summary for SLC25A30 Gene

SLC25A30 (Solute Carrier Family 25 Member 30) is a Protein Coding gene. An important paralog of this gene is UCP1.

UniProtKB/Swiss-Prot for SLC25A30 Gene

  • Probable transporter.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC25A30 Gene

Genomics for SLC25A30 Gene

Regulatory Elements for SLC25A30 Gene

Enhancers for SLC25A30 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around SLC25A30 on UCSC Golden Path with GeneCards custom track

Promoters for SLC25A30 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SLC25A30 on UCSC Golden Path with GeneCards custom track

Genomic Location for SLC25A30 Gene

Chromosome:
13
Start:
45,393,316 bp from pter
End:
45,418,455 bp from pter
Size:
25,140 bases
Orientation:
Minus strand

Genomic View for SLC25A30 Gene

Genes around SLC25A30 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC25A30 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC25A30 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC25A30 Gene

Proteins for SLC25A30 Gene

  • Protein details for SLC25A30 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5SVS4-KMCP1_HUMAN
    Recommended name:
    Kidney mitochondrial carrier protein 1
    Protein Accession:
    Q5SVS4
    Secondary Accessions:
    • B2RN96
    • B4DZK3
    • F5H8H8

    Protein attributes for SLC25A30 Gene

    Size:
    291 amino acids
    Molecular mass:
    32475 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for SLC25A30 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC25A30 Gene

Proteomics data for SLC25A30 Gene at MOPED

Post-translational modifications for SLC25A30 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for SLC25A30 Gene

Domains & Families for SLC25A30 Gene

Gene Families for SLC25A30 Gene

Graphical View of Domain Structure for InterPro Entry

Q5SVS4

UniProtKB/Swiss-Prot:

KMCP1_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 SLC25A30: view

Function for SLC25A30 Gene

Molecular function for SLC25A30 Gene

UniProtKB/Swiss-Prot Function:
Probable transporter.
genes like me logo Genes that share phenotypes with SLC25A30: view

Animal Models for SLC25A30 Gene

MGI Knock Outs for SLC25A30:

Animal Model Products

  • Taconic Biosciences Mouse Models for SLC25A30

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SLC25A30 Gene

Localization for SLC25A30 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC25A30 Gene

Mitochondrion inner membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SLC25A30 Gene COMPARTMENTS Subcellular localization image for SLC25A30 gene
Compartment Confidence
mitochondrion 4
cytosol 2
nucleus 2
peroxisome 2
extracellular 1

No data available for Gene Ontology (GO) - Cellular Components for SLC25A30 Gene

Pathways & Interactions for SLC25A30 Gene

SuperPathways for SLC25A30 Gene

No Data Available

Interacting Proteins for SLC25A30 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000429168%0d%0a9606.ENSP00000344818%0d%0a
Selected Interacting proteins: ENSP00000429168 for SLC25A30 Gene via STRING

Symbol External ID(s) Details
UBC

Gene Ontology (GO) - Biological Process for SLC25A30 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006839 mitochondrial transport IEA --
genes like me logo Genes that share ontologies with SLC25A30: view

No data available for Pathways by source and SIGNOR curated interactions for SLC25A30 Gene

Drugs & Compounds for SLC25A30 Gene

No Compound Related Data Available

Transcripts for SLC25A30 Gene

Unigene Clusters for SLC25A30 Gene

Solute carrier family 25, member 30:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SLC25A30 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b
SP1: - -
SP2: - - -
SP3:
SP4: - - -
SP5:

Relevant External Links for SLC25A30 Gene

GeneLoc Exon Structure for
SLC25A30
ECgene alternative splicing isoforms for
SLC25A30

Expression for SLC25A30 Gene

mRNA expression in normal human tissues for SLC25A30 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SLC25A30 Gene

This gene is overexpressed in Heart - Left Ventricle (x6.9).

Protein differential expression in normal tissues from HIPED for SLC25A30 Gene

This gene is overexpressed in Breast (27.5), Bone (26.6), and Neutrophil (9.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MOPED, and MaxQB for SLC25A30 Gene



SOURCE GeneReport for Unigene cluster for SLC25A30 Gene Hs.591230

genes like me logo Genes that share expression patterns with SLC25A30: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for SLC25A30 Gene

Orthologs for SLC25A30 Gene

This gene was present in the common ancestor of animals.

Orthologs for SLC25A30 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SLC25A30 35
  • 90.15 (n)
  • 95.19 (a)
SLC25A30 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SLC25A30 35
  • 90.15 (n)
  • 96.56 (a)
SLC25A30 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Slc25a30 35
  • 85.45 (n)
  • 92.44 (a)
Slc25a30 16
Slc25a30 36
  • 92 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SLC25A30 35
  • 98.85 (n)
  • 98.62 (a)
SLC25A30 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Slc25a30 35
  • 85.45 (n)
  • 93.47 (a)
oppossum
(Monodelphis domestica)
Mammalia SLC25A30 36
  • 94 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC25A30 36
  • 32 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC25A30 35
  • 77.09 (n)
  • 86.6 (a)
SLC25A30 36
  • 87 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SLC25A30 36
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC394840 35
slc25a30 35
  • 77.21 (n)
  • 89 (a)
zebrafish
(Danio rerio)
Actinopterygii zgc55596 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011839 35
  • 58.66 (n)
  • 60.42 (a)
fruit fly
(Drosophila melanogaster)
Insecta Bmcp 35
  • 59.57 (n)
  • 62.06 (a)
Bmcp 36
  • 57 (a)
OneToMany
Species with no ortholog for SLC25A30:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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 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 SLC25A30 Gene

ENSEMBL:
Gene Tree for SLC25A30 (if available)
TreeFam:
Gene Tree for SLC25A30 (if available)

Paralogs for SLC25A30 Gene

(11) SIMAP similar genes for SLC25A30 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with SLC25A30: view

Variants for SLC25A30 Gene

Sequence variations from dbSNP and Humsavar for SLC25A30 Gene

SNP ID Clin Chr 13 pos Sequence Context AA Info Type
rs1133889 -- 45,397,960(-) TTATT(A/T)GTGAC intron-variant, utr-variant-3-prime
rs4433707 -- 45,409,930(+) GTCAA(C/T)GGGAA intron-variant
rs3210286 -- 45,394,005(-) TGAAA(C/T)GCTCT utr-variant-3-prime
rs4941527 -- 45,411,570(+) GGAGA(A/G)TGCTA intron-variant
rs7317760 -- 45,398,933(+) ATCTG(C/T)TCTTA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SLC25A30 Gene

Variant ID Type Subtype PubMed ID
nsv510579 CNV Loss 20534489
dgv250e201 CNV Deletion 23290073
nsv455875 CNV Loss 19166990

Variation tolerance for SLC25A30 Gene

Residual Variation Intolerance Score: 50.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.72; 32.62% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for SLC25A30 Gene

Disorders for SLC25A30 Gene

Relevant External Links for SLC25A30

Genetic Association Database (GAD)
SLC25A30
Human Genome Epidemiology (HuGE) Navigator
SLC25A30
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SLC25A30

No disorders were found for SLC25A30 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SLC25A30 Gene

Publications for SLC25A30 Gene

  1. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 48 67
  2. A new renal mitochondrial carrier, KMCP1, is up-regulated during tubular cell regeneration and induction of antioxidant enzymes. (PMID: 15809292) Haguenauer A. … Pecqueur C. (J. Biol. Chem. 2005) 3 23
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. The mitochondrial transporter family SLC25: identification, properties and physiopathology. (PMID: 23266187) Palmieri F. (Mol. Aspects Med. 2013) 3
  5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K. … Sugano S. (Genome Res. 2006) 3

Products for SLC25A30 Gene

Sources for SLC25A30 Gene

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