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    SLC25A30 solute carrier family 25 member 30 [ Homo sapiens (human) ]

    Gene ID: 253512, updated on 5-Aug-2018

    Summary

    Official Symbol
    SLC25A30provided by HGNC
    Official Full Name
    solute carrier family 25 member 30provided by HGNC
    Primary source
    HGNC:HGNC:27371
    See related
    Ensembl:ENSG00000174032 MIM:610793; Vega:OTTHUMG00000016853
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    KMCP1
    Summary
    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]
    Expression
    Broad expression in heart (RPKM 22.8), kidney (RPKM 18.0) and 24 other tissues See more
    Orthologs

    Genomic context

    See SLC25A30 in Genome Data Viewer
    Location:
    13q14.13
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 13 NC_000013.11 (45393316..45434016, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (45960520..45992549, complement)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene small nucleolar RNA, H/ACA box 31 Neighboring gene TPT1 antisense RNA 1 Neighboring gene tumor protein, translationally-controlled 1 Neighboring gene reticulocalbin 1 pseudogene 2 Neighboring gene SLC25A30 antisense RNA 1 Neighboring gene peptidylprolyl isomerase A pseudogene 25 Neighboring gene component of oligomeric golgi complex 3

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    antiporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    malate transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    molecular_function ND
    No biological Data available
    more info
     
    oxaloacetate transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    succinate transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    sulfate transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    thiosulfate transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Process Evidence Code Pubs
    biological_process ND
    No biological Data available
    more info
     
    malate transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    oxaloacetate transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    phosphate ion transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    succinate transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    sulfate transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    thiosulfate transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    mitochondrion ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 

    General protein information

    Preferred Names
    kidney mitochondrial carrier protein 1

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001010875.3NP_001010875.1  kidney mitochondrial carrier protein 1 isoform 1

      See identical proteins and their annotated locations for NP_001010875.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AK094133, AK095465, AL627107, DA184634, DC322809
      Consensus CDS
      CCDS31967.1
      UniProtKB/Swiss-Prot
      Q5SVS4
      UniProtKB/TrEMBL
      B3KSR0, B3KTE8
      Related
      ENSP00000429168.1, OTTHUMP00000018351, ENST00000519676.5, OTTHUMT00000044775
      Conserved Domains (1) summary
      cl28162
      Location:9289
      Mito_carr; Mitochondrial carrier protein
    2. NM_001286806.1NP_001273735.1  kidney mitochondrial carrier protein 1 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation from a downstream in-frame start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus than isoform 1.
      Source sequence(s)
      AK095465, AK302967, AL627107, DA184634
      Consensus CDS
      CCDS66539.1
      UniProtKB/Swiss-Prot
      Q5SVS4
      UniProtKB/TrEMBL
      B3KTE8
      Related
      ENSP00000443542.1, ENST00000539591.5
      Conserved Domains (1) summary
      pfam00153
      Location:148238
      Mito_carr; Mitochondrial carrier protein
    3. NM_001286807.1NP_001273736.1  kidney mitochondrial carrier protein 1 isoform 3

      See identical proteins and their annotated locations for NP_001273736.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation from a downstream in-frame start codon, compared to variant 1. The encoded isoform (3) has a shorter N-terminus than isoform 1.
      Source sequence(s)
      AL627107, BC144401, DA184634
      UniProtKB/TrEMBL
      B3KTE8
      Conserved Domains (1) summary
      pfam00153
      Location:124214
      Mito_carr; Mitochondrial carrier protein

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000013.11 Reference GRCh38.p12 Primary Assembly

      Range
      45393316..45434016 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005266321.2XP_005266378.1  kidney mitochondrial carrier protein 1 isoform X1

      See identical proteins and their annotated locations for XP_005266378.1

      Conserved Domains (1) summary
      pfam00153
      Location:5100
      Mito_carr; Mitochondrial carrier protein
    2. XM_017020524.2XP_016876013.1  kidney mitochondrial carrier protein 1 isoform X2

      UniProtKB/Swiss-Prot
      Q5SVS4
      Conserved Domains (1) summary
      cl28162
      Location:9289
      Mito_carr; Mitochondrial carrier protein
    3. XM_011535027.2XP_011533329.1  kidney mitochondrial carrier protein 1 isoform X5

      See identical proteins and their annotated locations for XP_011533329.1

      UniProtKB/TrEMBL
      B3KTE8
      Conserved Domains (1) summary
      pfam00153
      Location:124214
      Mito_carr; Mitochondrial carrier protein
    4. XM_017020523.1XP_016876012.1  kidney mitochondrial carrier protein 1 isoform X1

      Conserved Domains (1) summary
      pfam00153
      Location:5100
      Mito_carr; Mitochondrial carrier protein
    5. XM_006719793.4XP_006719856.1  kidney mitochondrial carrier protein 1 isoform X1

      See identical proteins and their annotated locations for XP_006719856.1

      Conserved Domains (1) summary
      pfam00153
      Location:5100
      Mito_carr; Mitochondrial carrier protein
    6. XM_011535026.1XP_011533328.1  kidney mitochondrial carrier protein 1 isoform X4

      Conserved Domains (1) summary
      pfam00153
      Location:27116
      Mito_carr; Mitochondrial carrier protein
    7. XM_006719794.2XP_006719857.1  kidney mitochondrial carrier protein 1 isoform X1

      See identical proteins and their annotated locations for XP_006719857.1

      Conserved Domains (1) summary
      pfam00153
      Location:5100
      Mito_carr; Mitochondrial carrier protein
    8. XM_005266322.1XP_005266379.1  kidney mitochondrial carrier protein 1 isoform X3

      Conserved Domains (1) summary
      pfam00153
      Location:5100
      Mito_carr; Mitochondrial carrier protein
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