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

    Gene ID: 253512, updated on 3-Nov-2024

    Summary

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    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; AllianceGenome:HGNC:27371
    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
    mouse all
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    Genomic context

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    See SLC25A30 in Genome Data Viewer
    Location:
    13q14.13
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (45393316..45434016, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (44612450..44654483, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (45967451..45992508, complement)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5315 Neighboring gene uncharacterized LOC124903169 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:45916757-45917544 Neighboring gene TPT1 antisense RNA 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr13:45941608-45942114 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr13:45944664-45945164 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr13:45945165-45945665 Neighboring gene Sharpr-MPRA regulatory region 12652 Neighboring gene reticulocalbin 1 pseudogene 2 Neighboring gene Sharpr-MPRA regulatory region 15232 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7679 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5316 Neighboring gene SLC25A30 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5317 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7680 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr13:45996790-45997291 Neighboring gene peptidylprolyl isomerase A pseudogene 25 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr13:46058676-46059178 Neighboring gene component of oligomeric golgi complex 3

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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 Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. The human uncoupling proteins 5 and 6 (UCP5/SLC25A14 and UCP6/SLC25A30) transport sulfur oxyanions, phosphate and dicarboxylates. Gorgoglione R, et al. Biochim Biophys Acta Bioenerg, 2019 Sep 1. PMID 31356773
    2. A new renal mitochondrial carrier, KMCP1, is up-regulated during tubular cell regeneration and induction of antioxidant enzymes. Haguenauer A, et al. J Biol Chem, 2005 Jun 10. PMID 15809292
    3. SPG7 Is an Essential and Conserved Component of the Mitochondrial Permeability Transition Pore. Shanmughapriya S, et al. Mol Cell, 2015 Oct 1. PMID 26387735, Free PMC Article
    4. The mitochondrial transporter family SLC25: identification, properties and physiopathology. Palmieri F. Mol Aspects Med, 2013 Apr-Jun. PMID 23266187
    5. CDK7/GRP78 signaling axis contributes to tumor growth and metastasis in osteosarcoma. Zhang T, et al. Oncogene, 2022 Sep. PMID 36042349

    See all (16) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Compares and contrasts all the known human SLC25A* genes and includes functional information.
      Title: The mitochondrial transporter family SLC25: identification, properties and physiopathology.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables solute:inorganic anion antiporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in inorganic anion transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in mitochondrial inner membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in mitochondrion HTP PubMed 
    located_in mitochondrion ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    kidney mitochondrial carrier protein 1
    Names
    uncoupling protein 6

    NCBI Reference Sequences (RefSeq)

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    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_001010875.4 → NP_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, DC322809
      Consensus CDS
      CCDS31967.1
      UniProtKB/Swiss-Prot
      B2RN96, B4DZK3, F5H8H8, Q5SVS4
      UniProtKB/TrEMBL
      B3KSR0
      Related
      ENSP00000429168.1, ENST00000519676.6
      Conserved Domains (1) summary
      cl28162
      Location:9 → 289
      Mito_carr; Mitochondrial carrier protein

    2. NM_001286806.2 → NP_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
      Consensus CDS
      CCDS66539.1
      UniProtKB/TrEMBL
      B3KSR0
      Related
      ENSP00000443542.1, ENST00000539591.5
      Conserved Domains (1) summary
      pfam00153
      Location:148 → 238
      Mito_carr; Mitochondrial carrier protein

    3. NM_001286807.2 → NP_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
      UniProtKB/TrEMBL
      B3KTE8
      Conserved Domains (1) summary
      pfam00153
      Location:124 → 214
      Mito_carr; Mitochondrial carrier protein

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000013.11 Reference GRCh38.p14 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_017020523.2 → XP_016876012.1  kidney mitochondrial carrier protein 1 isoform X1

      UniProtKB/TrEMBL
      B3KSR0
      Conserved Domains (1) summary
      pfam00153
      Location:5 → 100
      Mito_carr; Mitochondrial carrier protein

    2. XM_005266321.3 → XP_005266378.1  kidney mitochondrial carrier protein 1 isoform X1

      See identical proteins and their annotated locations for XP_005266378.1

      UniProtKB/TrEMBL
      B3KSR0
      Conserved Domains (1) summary
      pfam00153
      Location:5 → 100
      Mito_carr; Mitochondrial carrier protein

    3. XM_006719793.5 → XP_006719856.1  kidney mitochondrial carrier protein 1 isoform X1

      See identical proteins and their annotated locations for XP_006719856.1

      UniProtKB/TrEMBL
      B3KSR0
      Conserved Domains (1) summary
      pfam00153
      Location:5 → 100
      Mito_carr; Mitochondrial carrier protein

    4. XM_047430241.1 → XP_047286197.1  kidney mitochondrial carrier protein 1 isoform X2

      UniProtKB/Swiss-Prot
      B2RN96, B4DZK3, F5H8H8, Q5SVS4

    5. XM_006719794.3 → XP_006719857.1  kidney mitochondrial carrier protein 1 isoform X1

      See identical proteins and their annotated locations for XP_006719857.1

      UniProtKB/TrEMBL
      B3KSR0
      Conserved Domains (1) summary
      pfam00153
      Location:5 → 100
      Mito_carr; Mitochondrial carrier protein

    6. XM_017020524.3 → XP_016876013.1  kidney mitochondrial carrier protein 1 isoform X2

      UniProtKB/Swiss-Prot
      B2RN96, B4DZK3, F5H8H8, Q5SVS4
      UniProtKB/TrEMBL
      B3KSR0
      Conserved Domains (1) summary
      cl28162
      Location:9 → 289
      Mito_carr; Mitochondrial carrier protein

    7. XM_005266322.2 → XP_005266379.1  kidney mitochondrial carrier protein 1 isoform X3

      UniProtKB/TrEMBL
      B3KSR0
      Conserved Domains (1) summary
      pfam00153
      Location:5 → 100
      Mito_carr; Mitochondrial carrier protein

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060937.1 Alternate T2T-CHM13v2.0

      Range
      44612450..44654483 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054374386.1 → XP_054230361.1  kidney mitochondrial carrier protein 1 isoform X1

    2. XM_054374387.1 → XP_054230362.1  kidney mitochondrial carrier protein 1 isoform X2

      UniProtKB/Swiss-Prot
      B2RN96, B4DZK3, F5H8H8, Q5SVS4

    3. XM_054374383.1 → XP_054230358.1  kidney mitochondrial carrier protein 1 isoform X1

    4. XM_054374384.1 → XP_054230359.1  kidney mitochondrial carrier protein 1 isoform X1

    5. XM_054374385.1 → XP_054230360.1  kidney mitochondrial carrier protein 1 isoform X1

    6. XM_054374388.1 → XP_054230363.1  kidney mitochondrial carrier protein 1 isoform X2

      UniProtKB/Swiss-Prot
      B2RN96, B4DZK3, F5H8H8, Q5SVS4

    7. XM_054374389.1 → XP_054230364.1  kidney mitochondrial carrier protein 1 isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5SVS4.1 GenPept UniProtKB/Swiss-Prot:Q5SVS4

    Gene LinkOut

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