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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
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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 Variation Viewer (GRCh37.p13)

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

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