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

    Gene ID: 9016, updated on 27-Nov-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
    mouse all
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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_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (130339919..130373357)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (128658734..128692156)
    RS_2024_09 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. UCP5/BMCP1 transcript isoforms in human skeletal muscle: relationship of the short-insert isoform with lipid oxidation and resting metabolic rates. Yang X, et al. Mol Genet Metab, 2002 Apr. PMID 12051969
    2. 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
    3. 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
    4. 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
    5. 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

    See all (29) 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)

    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 HTP PubMed 
    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_2024_08

    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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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