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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SLC25A30 Gene

protein-coding   GIFtS: 48
GCID: GC13M045967

Solute Carrier Family 25, Member 30

  See related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Solute Carrier Family 25, Member 301 2
KMCP12 3 5
Kidney Mitochondrial Carrier Protein 12
Kidney Mitochondrial Carrier Protein-12
Solute Carrier Family 25 Member 303

External Ids:    HGNC: 273711   Entrez Gene: 2535122   Ensembl: ENSG000001740327   OMIM: 6107935   UniProtKB: Q5SVS43   

Export aliases for SLC25A30 gene to outside databases

Previous GC identifers: GC13M043766 GC13M044865 GC13M026765


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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. Diseases associated with SLC25A30 include yellow fever. GO annotations related to this gene include molecular_function. An important paralog of this gene is UCP3.

UniProtKB/Swiss-Prot: KMCP1_HUMAN, Q5SVS4
Function: Probable transporter (By similarity)




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000013.10  NT_024524.14  NC_018924.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SLC25A30 gene promoter:
         SRF   AML1a   SRF (504 AA)   CUTL1   POU3F2   GATA-2   MEF-2A   aMEF-2   ZIC2/Zic2   RSRFC4   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSLC25A30 promoter sequence
   Search SABiosciences Chromatin IP Primers for SLC25A30

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SLC25A30


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 13q14.13   Ensembl cytogenetic band:  13q14.13   HGNC cytogenetic band: 13q14

SLC25A30 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC25A30 gene location

GeneLoc information about chromosome 13         GeneLoc Exon Structure

GeneLoc location for GC13M045967:  view genomic region     (about GC identifiers)

Start:
45,967,451 bp from pter      End:
45,992,590 bp from pter
Size:
25,140 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: KMCP1_HUMAN, Q5SVS4 (See protein sequence)
Recommended Name: Kidney mitochondrial carrier protein 1  
Size: 291 amino acids; 32475 Da
Subcellular location: Mitochondrion inner membrane; Multi-pass membrane protein (By similarity)
Secondary accessions: B2RN96

Explore the universe of human proteins at neXtProt for SLC25A30: NX_Q5SVS4

Explore proteomics data for SLC25A30 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q5SVS4

  • SLC25A30 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SLC25A30 Protein Expression
    REFSEQ proteins: NP_001010875.1  
    ENSEMBL proteins: 
     ENSP00000429168   ENSP00000311856   ENSP00000429308   ENSP00000430687   ENSP00000425603  
     ENSP00000443542  

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    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for SLC25A30 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion ISS15809292
    GO:0005743mitochondrial inner membrane IEA--
    GO:0016021integral to membrane IEA--
    GO:0031966mitochondrial membrane ----

    SLC25A30 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    SLC: Solute carriers

    IUPHAR Guide to PHARMACOLOGY protein family classification: KMCP1 
    Miscellaneous SLC25 mitochondrial transporters

    3 InterPro protein domains:
     IPR023395 Mt_carrier_dom
     IPR002030 Mit_uncoupling
     IPR018108 Mitochondrial_sb/sol_carrier

    Graphical View of Domain Structure for InterPro Entry Q5SVS4

    ProtoNet protein and cluster: Q5SVS4

    1 Blocks protein domain: IPB002030 Mitochondrial brown fat uncoupling protein signature

    UniProtKB/Swiss-Prot: KMCP1_HUMAN, Q5SVS4
    Similarity: Belongs to the mitochondrial carrier (TC 2.A.29) family
    Similarity: Contains 3 Solcar repeats


    SLC25A30 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: KMCP1_HUMAN, Q5SVS4
    Function: Probable transporter (By similarity)

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
         
    SLC25A30 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for SLC25A30:
     Lamellipodia and high actin ra 

    Animal Models:
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SLC25A30

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for SLC25A30 (ENSP000003118564) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport ----
    GO:0006839mitochondrial transport IEA--
    GO:0008150biological_process ND--

    SLC25A30 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SLC25A30 (KMCP1)

    Search CenterWatch for drugs/clinical trials and news about SLC25A30 / KMCP1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for SLC25A30 gene: 
    NM_001010875.2  

    Unigene Cluster for SLC25A30:

    Solute carrier family 25, member 30
    Hs.591230  [show with all ESTs]
    Unigene Representative Sequence: AL832206
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000523988(uc001vaf.3) ENST00000519676(uc001vag.3 uc010tfs.2 uc010tft.2 uc001vah.3)
    ENST00000310862 ENST00000519547 ENST00000522438 ENST00000463262 ENST00000539591

    miRNA
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    hsa-miR-548j hsa-miR-30d hsa-miR-570 hsa-miR-1276 hsa-miR-124 hsa-miR-30a hsa-miR-508-5p hsa-miR-506
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    Additional mRNA sequence: 

    AK074457.1 AK094133.1 AK095465.1 AK302967.1 AL832206.1 BC129808.1 BC132739.1 BC136760.1 
    BC144401.1 CR627474.1 

    7 DOTS entries:

    DT.95366482  DT.410890  DT.40129370  DT.95366479  DT.95200961  DT.91748893  DT.95227324 

    24/79 AceView cDNA sequences (see all 79):

    AI767440 CA422444 AI273581 AW770026 BF001919 AW195328 BE048788 C04249 
    BF194826 BQ000885 AI522325 AI888763 CB850989 F05208 BU740496 BF111608 
    AL832206 BE465815 AK095465 AW294068 Z44480 AI651408 AI800527 AW338475 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for SLC25A30    About this scheme

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


    ECgene alternative splicing isoforms for SLC25A30

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SLC25A30 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGCTAGAAAT
    SLC25A30 Expression
    About this image


    See SLC25A30 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SLC25A30

    SOURCE GeneReport for Unigene cluster: Hs.591230
        SABiosciences Expression via Pathway-Focused PCR Array including SLC25A30: 
              Mitochondria in human mouse rat

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC25A30

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for SLC25A30 gene from 6/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Slc25a301 , 5 solute carrier family 25, member 301, 5 85.45(n)1
    92.44(a)1
      14 (40.29 cM)5
    675541  NM_026232.31  NP_080508.11 
     757619995 
    chicken
    (Gallus gallus)
    Aves SLC25A301 solute carrier family 25, member 30 77.09(n)
    86.6(a)
      418845  XM_417040.3  XP_417040.3 
    lizard
    (Anolis carolinensis)
    Reptilia SLC25A306
    Uncharacterized protein
    75(a)
    1 ↔ 1
    GL343395.1(773695-790173)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia LOC3948402 hypothetical protein LOC394840 79.22(n)    BC063207.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc555962 similar to solute carrier family 25 (mitochondrial more 76.02(n)   393133  BC045395.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Bmcp1 Bmcp-PA 59.57(n)
    62.06(a)
      39322  NM_168472.1  NP_729738.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SLC25A30 gene
    UCP32  UCP12  UCP22  SLC25A142  SLC25A112  ENSG000002626602  SLC25A102  SLC25A272  
    11 SIMAP similar genes for SLC25A30 using alignment to 5 protein entries:     KMCP1_HUMAN (see all proteins):
    SLC25A14    SLC25A27    UCP2    UCP1    UCP3    SLC25A22
    SLC25A11    SLC25A10    SLC25A19    SLC25A34    SLC25A35

    SLC25A30 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/475 SNPs in SLC25A30 are shown (see all 475)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 13 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1817965501,2
    C--26792561(+) TGAATG/TTTTTA 1 -- us2k10--------
    rs1433137111,2
    C--26792611(+) GTGTCC/TATTAT 1 -- us2k10--------
    rs1467252131,2
    --26792784(+) CTCACA/GTCTAT 1 -- us2k10--------
    rs58032961,2
    C--45966980(+) ATGCTAA/-AACAG 1 -- ds50011Minor allele frequency- -:0.00NA 2
    rs128685921,2
    C,F--45967193(+) TTCGAA/GTGCCA 1 -- ds50014Minor allele frequency- G:0.10NA EA 244
    rs1910378751,2
    --45967539(+) AGCTTC/GAAATA 1 -- ut310--------
    rs1149763601,2
    C,F--45967610(+) AAATAT/CAAAGG 1 -- ut311Minor allele frequency- C:0.05WA 118
    rs788966521,2
    C,F--45967673(+) CACAAA/GTCCAT 1 -- ut311Minor allele frequency- G:0.02EA 120
    rs1828311791,2
    --45967806(+) CCCAAC/TTCCTT 1 -- ut310--------
    rs1884837341,2
    --45967936(+) GCTTTG/TATCTT 1 -- ut310--------

    HapMap Linkage Disequilibrium report for SLC25A30 (45967451 - 45992590 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for SLC25A30:    About this table     
    Variant IDTypeSubtypePubMed ID
    dgv250e201CNV Deletion23290073
    nsv510579CNV Loss20534489
    nsv455875CNV Loss19166990

    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for SLC25A30

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 610793    OMIM disorders: --

    2 diseases for SLC25A30:    About MalaCards
    yellow fever    


    SLC25A30 for disorders           About GeneDecksing

    Genetic Association Database (GAD): SLC25A30
    Human Genome Epidemiology (HuGE) Navigator: SLC25A30 (1 document)

    Export disorders for SLC25A30 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for SLC25A30 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with SLC25A30)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (2010)
    2. A new renal mitochondrial carrier, KMCP1, is up-regulated during tubular cell regeneration and induction of antioxidant enzymes. (PubMed id 15809292)1, 9 Haguenauer A....Pecqueur C. (2005)
    3. The mitochondrial transporter family SLC25: identifica tion, properties and physiopathology. (PubMed id 23266187)1 Palmieri F. (2013)
    4. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    5. The DNA sequence and analysis of human chromosome 13. (PubMed id 15057823)2 Dunham A.... Ross M.T. (2004)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (2004)
    8. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 253512 HGNC: 27371 AceView: SLC25A30 Ensembl:ENSG00000174032 euGenes: HUgn253512
    ECgene: SLC25A30 H-InvDB: SLC25A30

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SLC25A30 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for SLC25A30 gene:
    Search GeneIP for patents involving SLC25A30

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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