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SLC25A14 solute carrier family 25 member 14 [ Homo sapiens (human) ]

Gene ID: 9016, updated on 3-Apr-2024

Summary

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Official Symbol
SLC25A14provided by HGNC
Official Full Name
solute carrier family 25 member 14provided by HGNC
Primary source
HGNC:HGNC:10984
See related
Ensembl:ENSG00000102078 MIM:300242; AllianceGenome:HGNC:10984
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
UCP5; BMCP1
Summary
Mitochondrial uncoupling proteins (UCP) are members of the larger family of mitochondrial anion carrier proteins (MACP). Uncoupling proteins separate oxidative phosphorylation from ATP synthesis with energy dissipated as heat, also referred to as the mitochondrial proton leak. Uncoupling proteins facilitate the transfer of anions from the inner to the outer mitochondrial membrane and the return transfer of protons from the outer to the inner mitochondrial membrane. They also reduce the mitochondrial membrane potential in mammalian cells. This gene is widely expressed in many tissues with the greatest abundance in brain and testis. Alternative splicing results in multiple transcript variants. A pseudogene of this gene has been defined on chromosome 4. [provided by RefSeq, Aug 2013]
Expression
Ubiquitous expression in brain (RPKM 4.0), testis (RPKM 2.7) and 25 other tissues See more
Orthologs
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Genomic context

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See SLC25A14 in Genome Data Viewer
Location:
Xq26.1
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (130339919..130373357)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (128658734..128692156)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (129473893..129507331)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 1130, pseudogene Neighboring gene SNRPN upstream reading frame protein-like Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:129473525-129474098 Neighboring gene G protein-coupled receptor 119 Neighboring gene RNA binding motif protein X-linked 2

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
  • 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. Brain region-specific altered expression and association of mitochondria-related genes in autism. Anitha A, et al. Mol Autism, 2012 Nov 1. PMID 23116158, Free PMC Article
  2. Human neuronal uncoupling proteins 4 and 5 (UCP4 and UCP5): structural properties, regulation, and physiological role in protection against oxidative stress and mitochondrial dysfunction. Ramsden DB, et al. Brain Behav, 2012 Jul. PMID 22950050, Free PMC Article
  3. Mitochondrial UCP5 is neuroprotective by preserving mitochondrial membrane potential, ATP levels, and reducing oxidative stress in MPP+ and dopamine toxicity. Kwok KH, et al. Free Radic Biol Med, 2010 Sep 15. PMID 20600837
  4. Hydrogen peroxide regulates the mitochondrial content of uncoupling protein 5 in colon cancer cells. Santandreu FM, et al. Cell Physiol Biochem, 2009. PMID 19910678
  5. Knockdown of uncoupling protein-5 in neuronal SH-SY5Y cells: Effects on MPP+-induced mitochondrial membrane depolarization, ATP deficiency, and oxidative cytotoxicity. Ho PW, et al. J Neurosci Res, 2006 Nov 1. PMID 16941493

See all (27) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Increased expression of cerebral UCP5 and UCP4 is observed in a model of high altitude hypoxia and mitochondrial oxidative phosphorylation deficiency.
    Title: Evidence for involvement of uncoupling proteins in cerebral mitochondrial oxidative phosphorylation deficiency of rats exposed to 5,000 m high altitude.
  2. Compares and contrasts all the known human SLC25A* genes and includes functional information.
    Title: The mitochondrial transporter family SLC25: identification, properties and physiopathology.
  3. Neuronal UCP5 exhibits transmembrane chloride transport activity.
    Title: Toward understanding the mechanism of ion transport activity of neuronal uncoupling proteins UCP2, UCP4, and UCP5.
  4. observed significant associations between genetic variants in the SIRT6 and UCP5 genes and atherosclerotic plaque
    Title: Association of the sirtuin and mitochondrial uncoupling protein genes with carotid plaque.
  5. The enhanced level of UCP5 is associated to mitochondrial dysfunction in colonic cells.
    Title: Hydrogen peroxide regulates the mitochondrial content of uncoupling protein 5 in colon cancer cells.
  6. Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
    Title: Synergistic association of mitochondrial uncoupling protein (UCP) genes with schizophrenia.
  7. The brain may respond to neuroprotection through the increased expression of UCP5 under ischemic conditions.
    Title: Amplified expression of uncoupling proteins in human brain ischemic lesions.
  8. UCP5 might be physiologically important in the pathology of oxidative stress-induced neurodegeneration
    Title: Knockdown of uncoupling protein-5 in neuronal SH-SY5Y cells: Effects on MPP+-induced mitochondrial membrane depolarization, ATP deficiency, and oxidative cytotoxicity.
  9. These findings suggest that UCP2 and UCP4 have a modest but important involvement in the genetic etiology of schizophrenia.
    Title: Synergistic association of mitochondrial uncoupling protein (UCP) genes with schizophrenia.
  10. expressed in skeletal muscle as three different isoforms; expression level of UCP5SI positively correlated with resting metabolic rate and lipid oxidation rate during a euglycemic clamp with infusion of insulin at a physiologic concentration
    Title: UCP5/BMCP1 transcript isoforms in human skeletal muscle: relationship of the short-insert isoform with lipid oxidation and resting metabolic rates.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

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

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC149543

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables chloride transmembrane transporter activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein homodimerization activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables proton transmembrane transporter activity IDA
Inferred from Direct Assay
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 aerobic respiration TAS
Traceable Author Statement
more info
 PubMed 
involved_in chloride transmembrane transport IEA
Inferred from Electronic Annotation
more info
  
involved_in inorganic anion transport IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in proton transmembrane transport IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of cellular response to oxidative stress IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in mitochondrial inner membrane TAS
Traceable Author Statement
more info
  
located_in mitochondrion IDA
Inferred from Direct Assay
more info
 PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
 PubMed 

General protein information

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Preferred Names
brain mitochondrial carrier protein 1
Names
mitochondrial uncoupling protein 5

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.

Genomic

  1. NG_012850.2 RefSeqGene

    Range
    4847..38285
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001282195.2 → NP_001269124.1  brain mitochondrial carrier protein 1 isoform 1 precursor

    See identical proteins and their annotated locations for NP_001269124.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1, also known as UCP5L or long) encodes isoform 1.
    Source sequence(s)
    AF078544, DB485834
    Consensus CDS
    CCDS14623.1
    UniProtKB/Swiss-Prot
    D3DTG2, O95258, Q0VDH7, Q9HC60, Q9HC61
    Related
    ENSP00000444642.2, ENST00000545805.6
    Conserved Domains (2) summary
    PTZ00169
    Location:44 → 323
    PTZ00169; ADP/ATP transporter on adenylate translocase; Provisional
    pfam00153
    Location:234 → 323
    Mito_carr; Mitochondrial carrier protein

  2. NM_001282196.2 → NP_001269125.1  brain mitochondrial carrier protein 1 isoform 2 precursor

    See identical proteins and their annotated locations for NP_001269125.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2, also known as UCP5S or short) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. The encoded isoform (2) is shorter, compared to isoform 1.
    Source sequence(s)
    AF078544, AK309433, DB485834
    Consensus CDS
    CCDS14624.1
    UniProtKB/Swiss-Prot
    O95258
    Related
    ENSP00000354455.5, ENST00000361980.9
    Conserved Domains (2) summary
    PTZ00169
    Location:41 → 320
    PTZ00169; ADP/ATP transporter on adenylate translocase; Provisional
    pfam00153
    Location:231 → 320
    Mito_carr; Mitochondrial carrier protein

  3. NM_001282197.2 → NP_001269126.1  brain mitochondrial carrier protein 1 isoform 3 precursor

    See identical proteins and their annotated locations for NP_001269126.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3, also known as UCP5SI) uses an alternate in-frame splice site in the 5' coding region, and contains an alternate in-frame exon in the central coding region, compared to variant 1. The encoded isoform (3) is longer, compared to isoform 1.
    Source sequence(s)
    AF078544, AF155810, AK297499, DB485834
    Consensus CDS
    CCDS76020.1
    UniProtKB/Swiss-Prot
    O95258
    UniProtKB/TrEMBL
    B4DMK1
    Related
    ENSP00000477981.1, ENST00000612248.4
    Conserved Domains (2) summary
    PTZ00169
    Location:41 → 351
    PTZ00169; ADP/ATP transporter on adenylate translocase; Provisional
    pfam00153
    Location:262 → 351
    Mito_carr; Mitochondrial carrier protein

  4. NM_001282198.2 → NP_001269127.1  brain mitochondrial carrier protein 1 isoform 4

    See identical proteins and their annotated locations for NP_001269127.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in its 5' UTR and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (4) has a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AF078544, DB485834
    Consensus CDS
    CCDS76021.1
    UniProtKB/TrEMBL
    F6SL11
    Related
    ENSP00000445225.2, ENST00000543953.5
    Conserved Domains (2) summary
    PTZ00169
    Location:9 → 288
    PTZ00169; ADP/ATP transporter on adenylate translocase; Provisional
    pfam00153
    Location:199 → 288
    Mito_carr; Mitochondrial carrier protein

RNA

  1. NR_104107.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks two internal exons, compared to variant 1. This variant is represented as non-coding because it does not encode a supported protein.
    Source sequence(s)
    AF078544, AL520510, DB485834

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

    Range
    130339919..130373357
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011531402.3 → XP_011529704.1  brain mitochondrial carrier protein 1 isoform X1

    See identical proteins and their annotated locations for XP_011529704.1

    Conserved Domains (2) summary
    PTZ00169
    Location:53 → 332
    PTZ00169; ADP/ATP transporter on adenylate translocase; Provisional
    pfam00153
    Location:243 → 332
    Mito_carr; Mitochondrial carrier protein

  2. XM_005262489.6 → XP_005262546.1  brain mitochondrial carrier protein 1 isoform X3

    See identical proteins and their annotated locations for XP_005262546.1

    Conserved Domains (1) summary
    pfam00153
    Location:133 → 222
    Mito_carr; Mitochondrial carrier protein

  3. XM_047442617.1 → XP_047298573.1  brain mitochondrial carrier protein 1 isoform X5

  4. XM_047442615.1 → XP_047298571.1  brain mitochondrial carrier protein 1 isoform X2

  5. XM_047442616.1 → XP_047298572.1  brain mitochondrial carrier protein 1 isoform X4

RNA

  1. XR_007068205.1 RNA Sequence

    Related
    ENST00000424447.5

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    128658734..128692156
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054328066.1 → XP_054184041.1  brain mitochondrial carrier protein 1 isoform X1

  2. XM_054328068.1 → XP_054184043.1  brain mitochondrial carrier protein 1 isoform X3

  3. XM_054328070.1 → XP_054184045.1  brain mitochondrial carrier protein 1 isoform X5

  4. XM_054328067.1 → XP_054184042.1  brain mitochondrial carrier protein 1 isoform X2

  5. XM_054328069.1 → XP_054184044.1  brain mitochondrial carrier protein 1 isoform X4

RNA

  1. XR_008485514.1 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_003951.2: Suppressed sequence

    Description
    NM_003951.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript.

  2. NM_022810.1: Suppressed sequence

    Description
    NM_022810.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O95258.1 GenPept UniProtKB/Swiss-Prot:O95258

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