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

Gene ID: 253512, updated on 21-Dec-2019

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
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:
13
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 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 TPT1 antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 12652 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 Apr 4 07:08:55 2018

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
molecular_function ND
No biological Data available
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
biological_process ND
No biological Data available
more info
 
mitochondrial transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
mitochondrial inner membrane IEA
Inferred from Electronic Annotation
more info
 
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_001010875.4NP_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
    Q5SVS4
    UniProtKB/TrEMBL
    B3KSR0, B3KTE8
    Related
    ENSP00000429168.1, ENST00000519676.6
    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_001286807.2NP_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:124214
    Mito_carr; Mitochondrial carrier protein

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p13 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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