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Aliases for SLC25A30 Gene

Aliases for SLC25A30 Gene

  • Solute Carrier Family 25 Member 30 2 3 4 5
  • KMCP1 3 4
  • Kidney Mitochondrial Carrier Protein 1 3
  • Solute Carrier Family 25, Member 30 2

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 SLC25A14.

UniProtKB/Swiss-Prot for SLC25A30 Gene

  • Probable transporter.

Additional gene information for SLC25A30 Gene

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

Genomics for SLC25A30 Gene

GeneHancer (GH) Regulatory Elements for SLC25A30 Gene

Promoters and enhancers for SLC25A30 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
GH13I045416 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 566.6 +0.7 719 2.9 HDGF PKNOX1 CLOCK ATF1 ZFP64 ARID4B SIN3A ZNF48 YY1 SLC30A9 SLC25A30 SLC25A30-AS1 TPT1-AS1 RCN1P2
GH13I045338 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 16.3 +77.7 77685 4.6 HDGF PKNOX1 SMAD1 ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B ZNF213 TPT1-AS1 ENSG00000273149 GC13M045342 TPT1 GC13M045343 SLC25A30 SLC25A30-AS1
GH13I045444 Enhancer 1.1 ENCODE dbSUPER 22.6 -29.2 -29214 5.7 FOXA2 MLX ZFP64 ARID4B ZNF48 YY1 SLC30A9 ATF7 RXRA SP5 SLC25A30 SLC25A30-AS1 TPT1-AS1 PPIAP25 COG3
GH13I045366 Enhancer 1.4 FANTOM5 Ensembl ENCODE 15.6 +50.3 50321 2.7 HDGF IRF4 TCF12 ATF7 FOS RUNX3 JUNB ZNF518A SREBF1 SMARCA4 SLC25A30 TPT1-AS1 COG3 TPT1 GC13P045378 GC13P045379 GC13P045380 PIR60049 ENSG00000228886
GH13I045413 Enhancer 1.1 Ensembl ENCODE 19.2 +3.8 3811 2.1 PKNOX1 ARNT GLI4 ZNF2 YY1 E2F8 ATF7 RXRA SP5 NCOA1 SLC25A30 SLC25A30-AS1 RCN1P2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SLC25A30 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SLC25A30 gene promoter:

Genomic Locations for SLC25A30 Gene

Genomic Locations for SLC25A30 Gene
chr13:45,393,316-45,418,455
(GRCh38/hg38)
Size:
25,140 bases
Orientation:
Minus strand
chr13:45,967,451-45,992,590
(GRCh37/hg19)

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:
    • Interacts with VDAC1.

    Alternative splice isoforms for SLC25A30 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC25A30 Gene

Post-translational modifications for SLC25A30 Gene

No Post-translational modifications

No data available for DME Specific Peptides for SLC25A30 Gene

Domains & Families for SLC25A30 Gene

Gene Families for SLC25A30 Gene

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

Graphical View of Domain Structure for InterPro Entry

Q5SVS4

UniProtKB/Swiss-Prot:

KMCP1_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 SLC25A30: view

Function for SLC25A30 Gene

Molecular function for SLC25A30 Gene

UniProtKB/Swiss-Prot Function:
Probable transporter.

Phenotypes From GWAS Catalog for SLC25A30 Gene

Gene Ontology (GO) - Molecular Function for SLC25A30 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005515 protein binding IPI 26387735
GO:0022857 transmembrane transporter activity IBA --
genes like me logo Genes that share ontologies with SLC25A30: view
genes like me logo Genes that share phenotypes with SLC25A30: view

Animal Models for SLC25A30 Gene

MGI Knock Outs for SLC25A30:

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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
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 SLC25A30 gene
Compartment Confidence
mitochondrion 4
peroxisome 2
nucleus 2
cytosol 2
extracellular 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for SLC25A30 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion ISS 15809292
GO:0005743 mitochondrial inner membrane IBA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IBA --
GO:0031966 mitochondrial membrane IEA --
genes like me logo Genes that share ontologies with SLC25A30: view

Pathways & Interactions for SLC25A30 Gene

SuperPathways for SLC25A30 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SLC25A30 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006839 mitochondrial transport IBA --
GO:0008150 biological_process ND --
GO:0055085 transmembrane 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:

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, PaxDb, MaxQB, and MOPED for SLC25A30 Gene



NURSA nuclear receptor signaling pathways regulating expression of SLC25A30 Gene:

SLC25A30

SOURCE GeneReport for Unigene cluster for SLC25A30 Gene:

Hs.591230

Evidence on tissue expression from TISSUES for SLC25A30 Gene

  • Nervous system(4.3)
genes like me logo Genes that share expression patterns with SLC25A30: view

No data available for Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia SLC25A30 33 34
  • 98.85 (n)
oppossum
(Monodelphis domestica)
Mammalia SLC25A30 34
  • 94 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SLC25A30 33 34
  • 90.15 (n)
dog
(Canis familiaris)
Mammalia SLC25A30 33 34
  • 90.15 (n)
mouse
(Mus musculus)
Mammalia Slc25a30 33 16 34
  • 85.45 (n)
rat
(Rattus norvegicus)
Mammalia Slc25a30 33
  • 85.45 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SLC25A30 34
  • 32 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC25A30 33 34
  • 77.09 (n)
lizard
(Anolis carolinensis)
Reptilia SLC25A30 34
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia slc25a30 33
  • 77.21 (n)
LOC394840 33
zebrafish
(Danio rerio)
Actinopterygii zgc55596 33
fruit fly
(Drosophila melanogaster)
Insecta Bmcp 33 34
  • 59.57 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011839 33
  • 58.66 (n)
Species where no ortholog for SLC25A30 was found in the sources mined by GeneCards:
  • 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 Variation AA Info Type
rs1000000806 -- 45,421,104(-) C/T genic_upstream_transcript_variant, intron_variant
rs1000006353 -- 45,398,110(-) C/A/T intron_variant
rs1000032064 -- 45,421,360(-) C/G genic_upstream_transcript_variant, intron_variant
rs1000062164 -- 45,412,613(-) G/T genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000123052 -- 45,419,958(-) G/A genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant

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

Variant ID Type Subtype PubMed ID
nsv561578 CNV loss 21841781
nsv510579 CNV deletion 20534489
nsv455875 CNV loss 19166990
esv3631957 CNV loss 21293372
esv3631956 CNV loss 21293372
dgv223e201 CNV deletion 23290073

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)

Additional Variant Information for SLC25A30 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC25A30

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC25A30 Gene

Disorders for SLC25A30 Gene

Additional Disease Information for SLC25A30

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

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. SPG7 Is an Essential and Conserved Component of the Mitochondrial Permeability Transition Pore. (PMID: 26387735) Shanmughapriya S … Madesh M (Molecular cell 2015) 3 4 58
  2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 44 58
  3. A new renal mitochondrial carrier, KMCP1, is up-regulated during tubular cell regeneration and induction of antioxidant enzymes. (PMID: 15809292) Haguenauer A … Pecqueur C (The Journal of biological chemistry 2005) 3 22 58
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58

Products for SLC25A30 Gene

Sources for SLC25A30 Gene

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