U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from OMIM

    • Showing Current items.

    SLC25A27 solute carrier family 25 member 27 [ Homo sapiens (human) ]

    Gene ID: 9481, updated on 10-Dec-2024

    Summary

    Go to the top of the page Help
    Official Symbol
    SLC25A27provided by HGNC
    Official Full Name
    solute carrier family 25 member 27provided by HGNC
    Primary source
    HGNC:HGNC:21065
    See related
    Ensembl:ENSG00000153291 MIM:613725; AllianceGenome:HGNC:21065
    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
    UCP4
    Summary
    Mitochondrial uncoupling proteins (UCP) are members of the larger family of mitochondrial anion carrier proteins (MACP). UCPs separate oxidative phosphorylation from ATP synthesis with energy dissipated as heat, also referred to as the mitochondrial proton leak. UCPs 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. Tissue specificity occurs for the different UCPs and the exact methods of how UCPs transfer H+/OH- are not known. UCPs contain the three homologous protein domains of MACPs. Transcripts of this gene are only detected in brain tissue and are specifically modulated by various environmental conditions. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Feb 2011]
    Expression
    Broad expression in brain (RPKM 13.5), ovary (RPKM 8.8) and 22 other tissues See more
    Orthologs
    mouse all
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Go to the top of the page Help
    See SLC25A27 in Genome Data Viewer
    Location:
    6p12.3
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (46652975..46678190)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (46490625..46515839)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (46620712..46645927)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17271 Neighboring gene RCAN2 divergent transcript Neighboring gene cytochrome P450 family 39 subfamily A member 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:46542802-46543302 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:46543303-46543803 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24652 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24653 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17272 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24654 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17273 Neighboring gene TDRD6 and SLC25A27 antisense RNA 1 Neighboring gene tudor domain containing 6 Neighboring gene phospholipase A2 group VII Neighboring gene ankyrin repeat domain 66

    Genomic regions, transcripts, and products

    Go to the top of the page Help

    Go to nucleotide: Graphics FASTA GenBank

    Expression

    Go to the top of the page Help
    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    Go to the top of the pageHelp

    Related articles in PubMed

    1. Mitochondrial UCP4 attenuates MPP+ - and dopamine-induced oxidative stress, mitochondrial depolarization, and ATP deficiency in neurons and is interlinked with UCP2 expression. Chu AC, et al. Free Radic Biol Med, 2009 Mar 15. PMID 19150400
    2. Uncoupling protein 4 (UCP4) gene variability in neurodegenerative disorders: further evidence of association in Frontotemporal dementia. Montesanto A, et al. Aging (Albany NY), 2018 Nov 13. PMID 30425186, Free PMC Article
    3. A homozygous genetic variant of mitochondrial uncoupling protein 4 exerts protection against the occurrence of multiple sclerosis. Szolnoki Z, et al. Neuromolecular Med, 2009. PMID 19536655
    4. Transcriptional regulation of UCP4 by NF-kappaB and its role in mediating protection against MPP+ toxicity. Ho JW, et al. Free Radic Biol Med, 2010 Jul 15. PMID 20385226
    5. A homozygous genetic variant of mitochondrial uncoupling protein 4 affects the occurrence of leukoaraiosis. Szolnoki Z, et al. Acta Neurol Scand, 2011 May. PMID 20545631

    See all (39) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. This study evaluated the occurrence of a variant of UCP4 in patients with frontotemporal dementia, Parkinson disease, and healthy controls.
      Title: Uncoupling protein 4 (UCP4) gene variability in neurodegenerative disorders: further evidence of association in Frontotemporal dementia.
    2. our results suggested DJ-1 might regulate the expression of UCP4 by oxidation of DJ-1 and partially via NF-kappaB pathway in its protective response to oxidative stress
      Title: Parkinson's disease-related DJ-1 modulates the expression of uncoupling protein 4 against oxidative stress.
    3. This study found that the variability of UCP4 does affect the individual susceptibility to Late-Onset Alzheimer's Disease.
      Title: The Genetic Variability of UCP4 Affects the Individual Susceptibility to Late-Onset Alzheimer's Disease and Modifies the Disease's Risk in APOE-ɛ4 Carriers.
    4. UCP4 mRNA of cartilage tissues was decreased in osteoarthritis patients, which was negatively correlated with synovial fluid (SF) leptin concentration.
      Title: Effects of UCP4 on the Proliferation and Apoptosis of Chondrocytes: Its Possible Involvement and Regulation in Osteoarthritis.
    5. Compares and contrasts all the known human SLC25A* genes and includes functional information.
      Title: The mitochondrial transporter family SLC25: identification, properties and physiopathology.
    6. UCP4 is a target effector gene of the NF-kappaB c-Rel prosurvival pathway to mitigate the effects of oxidative stress.
      Title: UCP4 is a target effector of the NF-κB c-Rel prosurvival pathway against oxidative stress.
    7. Neuronal UCP4 exhibits transmembrane chloride transport activity.
      Title: Toward understanding the mechanism of ion transport activity of neuronal uncoupling proteins UCP2, UCP4, and UCP5.
    8. Findings show how UCP4 overexpression increases ATP synthesis by specifically interacting with Complex II.
      Title: Uncoupling protein-4 (UCP4) increases ATP supply by interacting with mitochondrial Complex II in neuroblastoma cells.
    9. UCP4 expression correlated with lymph node metastases, positive estrogen/progesterone receptor expression, and positivity for p53 and Ki-67 in breast carcinomas.
      Title: Mitochondrial UCP4 and bcl-2 expression in imprints of breast carcinomas: relationship with DNA ploidy and classical prognostic factors.
    10. A homozygous genetic variant of mitochondrial uncoupling protein 4 affects the occurrence of leukoaraiosis.(
      Title: A homozygous genetic variant of mitochondrial uncoupling protein 4 affects the occurrence of leukoaraiosis.
    Submit: New GeneRIF Correction See all GeneRIFs (19)

    Phenotypes

    Go to the top of the page Help

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

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

    Go to the top of the page Help

    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

    Go to the top of the page Help

    Replication interactions

    Interaction Pubs
    Knockdown of solute carrier family 25, member 27 (SLC25A27) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Go to the top of the page

    Interactions

    Go to the top of the page Help
    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Go to the top of the page Help

    Markers

    Homology

    Clone Names

    • FLJ33552

    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 transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in chloride transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in inner ear development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in intracellular triglyceride homeostasis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of mitochondrial calcium ion concentration IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of mitochondrial membrane potential IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of neuron apoptotic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of cell population proliferation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in proton transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of D-glucose import IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to cold IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in apical part of cell IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in mitochondrial inner membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in mitochondrial membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrion HTP PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in neuronal cell body IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

    Go to the top of the page Help
    Preferred Names
    mitochondrial uncoupling protein 4
    Names
    UCP 4
    uncoupling protein 4

    NCBI Reference Sequences (RefSeq)

    Go to the top of the page Help

    NEW Try the new Transcript table

    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_001204051.2 → NP_001190980.1  mitochondrial uncoupling protein 4 isoform 2

      See identical proteins and their annotated locations for NP_001190980.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 3' UTR and lacks a portion of the 3' coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AK295233, AL591242, BC033091, BP310559
      UniProtKB/TrEMBL
      B4DHR4
      Conserved Domains (1) summary
      pfam00153
      Location:125 → 219
      Mito_carr; Mitochondrial carrier protein

    2. NM_001204052.2 → NP_001190981.1  mitochondrial uncoupling protein 4 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) has multiple differences, compared to variant 1. These differences result in a distinct 3' UTR, compared to variant 1. The encoded protein (isoform 3) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      AL591242, BC033091, BP310559, DR002070
      Consensus CDS
      CCDS56431.1
      UniProtKB/Swiss-Prot
      O95847
      Related
      ENSP00000412024.2, ENST00000411689.6
      Conserved Domains (1) summary
      pfam00153
      Location:123 → 219
      Mito_carr; Mitochondrial carrier protein

    3. NM_004277.5 → NP_004268.3  mitochondrial uncoupling protein 4 isoform 1

      See identical proteins and their annotated locations for NP_004268.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AF110532, AL591242, DA144842
      Consensus CDS
      CCDS43470.1
      UniProtKB/Swiss-Prot
      F5GWR4, O95847, Q5VTS9, Q8N518
      Related
      ENSP00000360398.3, ENST00000371347.10
      Conserved Domains (1) summary
      pfam00153
      Location:125 → 219
      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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      46652975..46678190
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005249483.3 → XP_005249540.1  mitochondrial uncoupling protein 4 isoform X1

      Conserved Domains (1) summary
      pfam00153
      Location:125 → 219
      Mito_carr; Mitochondrial carrier protein

    2. XM_047419575.1 → XP_047275531.1  mitochondrial uncoupling protein 4 isoform X2

      UniProtKB/TrEMBL
      B4DZG4, C9J0T3

    RNA

    1. XR_007059387.1 RNA Sequence

    2. XR_007059388.1 RNA Sequence

    3. XR_007059389.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      46490625..46515839
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054356852.1 → XP_054212827.1  mitochondrial uncoupling protein 4 isoform X1

    2. XM_054356853.1 → XP_054212828.1  mitochondrial uncoupling protein 4 isoform X2

      UniProtKB/TrEMBL
      B4DZG4, C9J0T3

    RNA

    1. XR_008487509.1 RNA Sequence

    2. XR_008487510.1 RNA Sequence

    3. XR_008487511.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O95847.1 GenPept UniProtKB/Swiss-Prot:O95847

    Gene LinkOut

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

    Chemical Information
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous