LOCUS       NM_004277               2926 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens solute carrier family 25 member 27 (SLC25A27),
            transcript variant 1, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_004277
VERSION     NM_004277.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2926)
  AUTHORS   Morgenstern,M., Peikert,C.D., Lubbert,P., Suppanz,I., Klemm,C.,
            Alka,O., Steiert,C., Naumenko,N., Schendzielorz,A., Melchionda,L.,
            Muhlhauser,W.W.D., Knapp,B., Busch,J.D., Stiller,S.B.,
            Dannenmaier,S., Lindau,C., Licheva,M., Eickhorst,C., Galbusera,R.,
            Zerbes,R.M., Ryan,M.T., Kraft,C., Kozjak-Pavlovic,V., Drepper,F.,
            Dennerlein,S., Oeljeklaus,S., Pfanner,N., Wiedemann,N. and
            Warscheid,B.
  TITLE     Quantitative high-confidence human mitochondrial proteome and its
            dynamics in cellular context
  JOURNAL   Cell Metab 33 (12), 2464-2483 (2021)
   PUBMED   34800366
REFERENCE   2  (bases 1 to 2926)
  AUTHORS   Montesanto,A., Crocco,P., Dato,S., Geracitano,S., Frangipane,F.,
            Colao,R., Maletta,R., Passarino,G., Bruni,A.C. and Rose,G.
  TITLE     Uncoupling protein 4 (UCP4) gene variability in neurodegenerative
            disorders: further evidence of association in Frontotemporal
            dementia
  JOURNAL   Aging (Albany NY) 10 (11), 3283-3293 (2018)
   PUBMED   30425186
  REMARK    GeneRIF: This study evaluated the occurrence of a variant of UCP4
            in patients with frontotemporal dementia, Parkinson disease, and
            healthy controls.
REFERENCE   3  (bases 1 to 2926)
  AUTHORS   Xu,S., Yang,X., Qian,Y. and Xiao,Q.
  TITLE     Parkinson's disease-related DJ-1 modulates the expression of
            uncoupling protein 4 against oxidative stress
  JOURNAL   J Neurochem 145 (4), 312-322 (2018)
   PUBMED   29315581
  REMARK    GeneRIF: 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
REFERENCE   4  (bases 1 to 2926)
  AUTHORS   Huang,Z., Li,J., Du,S., Chen,G., Qi,Y., Huang,L., Xiao,L. and
            Tong,P.
  TITLE     Effects of UCP4 on the Proliferation and Apoptosis of Chondrocytes:
            Its Possible Involvement and Regulation in Osteoarthritis
  JOURNAL   PLoS One 11 (3), e0150684 (2016)
   PUBMED   26934480
  REMARK    GeneRIF: UCP4 mRNA of cartilage tissues was decreased in
            osteoarthritis patients, which was negatively correlated with
            synovial fluid (SF) leptin concentration.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2926)
  AUTHORS   Montesanto,A., Crocco,P., Anfossi,M., Smirne,N., Puccio,G.,
            Colao,R., Maletta,R., Passarino,G., Bruni,A.C. and Rose,G.
  TITLE     The Genetic Variability of UCP4 Affects the Individual
            Susceptibility to Late-Onset Alzheimer's Disease and Modifies the
            Disease's Risk in APOE-varepsilon4 Carriers
  JOURNAL   J Alzheimers Dis 51 (4), 1265-1274 (2016)
   PUBMED   26923023
  REMARK    GeneRIF: This study found that the variability of UCP4 does affect
            the individual susceptibility to Late-Onset Alzheimer's Disease.
REFERENCE   6  (bases 1 to 2926)
  AUTHORS   Muzzin,P.
  TITLE     The uncoupling proteins
  JOURNAL   Ann Endocrinol (Paris) 63 (2 Pt 1), 106-110 (2002)
   PUBMED   11994670
  REMARK    Review article
REFERENCE   7  (bases 1 to 2926)
  AUTHORS   Yu,X.X., Mao,W., Zhong,A., Schow,P., Brush,J., Sherwood,S.W.,
            Adams,S.H. and Pan,G.
  TITLE     Characterization of novel UCP5/BMCP1 isoforms and differential
            regulation of UCP4 and UCP5 expression through dietary or
            temperature manipulation
  JOURNAL   FASEB J 14 (11), 1611-1618 (2000)
   PUBMED   10928996
REFERENCE   8  (bases 1 to 2926)
  AUTHORS   Ricquier,D. and Bouillaud,F.
  TITLE     The uncoupling protein homologues: UCP1, UCP2, UCP3, StUCP and
            AtUCP
  JOURNAL   Biochem J 345 Pt 2 (Pt 2), 161-179 (2000)
   PUBMED   10620491
  REMARK    Review article
REFERENCE   9  (bases 1 to 2926)
  AUTHORS   Jezek,P. and Urbankova,E.
  TITLE     Specific sequence of motifs of mitochondrial uncoupling proteins
  JOURNAL   IUBMB Life 49 (1), 63-70 (2000)
   PUBMED   10772343
REFERENCE   10 (bases 1 to 2926)
  AUTHORS   Mao,W., Yu,X.X., Zhong,A., Li,W., Brush,J., Sherwood,S.W.,
            Adams,S.H. and Pan,G.
  TITLE     UCP4, a novel brain-specific mitochondrial protein that reduces
            membrane potential in mammalian cells
  JOURNAL   FEBS Lett 443 (3), 326-330 (1999)
   PUBMED   10025957
  REMARK    Erratum:[FEBS Lett 1999 Apr 23;449(2-3):293]
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA144842.1, AF110532.1 and
            AL591242.4.
            
            On Nov 22, 2018 this sequence version replaced NM_004277.4.
            
            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].
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803617.232734.1,
                                           SRR1803613.192637.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2142680
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000371347.10/
                                                  ENSP00000360398.3
            RefSeq Select criteria             :: based on conservation,
                                                  longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-525               DA144842.1         35-559
            526-1190            AF110532.1         308-972
            1191-2926           AL591242.4         37118-38853
FEATURES             Location/Qualifiers
     source          1..2926
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p12.3"
     gene            1..2926
                     /gene="SLC25A27"
                     /gene_synonym="UCP4"
                     /note="solute carrier family 25 member 27"
                     /db_xref="GeneID:9481"
                     /db_xref="HGNC:HGNC:21065"
                     /db_xref="MIM:613725"
     exon            1..324
                     /gene="SLC25A27"
                     /gene_synonym="UCP4"
                     /inference="alignment:Splign:2.1.0"
     CDS             219..1190
                     /gene="SLC25A27"
                     /gene_synonym="UCP4"
                     /note="isoform 1 is encoded by transcript variant 1;
                     uncoupling protein 4; mitochondrial uncoupling protein 4;
                     UCP 4"
                     /codon_start=1
                     /product="mitochondrial uncoupling protein 4 isoform 1"
                     /protein_id="NP_004268.3"
                     /db_xref="CCDS:CCDS43470.1"
                     /db_xref="GeneID:9481"
                     /db_xref="HGNC:HGNC:21065"
                     /db_xref="MIM:613725"
                     /translation="MSVPEEEERLLPLTQRWPRASKFLLSGCAATVAELATFPLDLTK
                     TRLQMQGEAALARLGDGARESAPYRGMVRTALGIIEEEGFLKLWQGVTPAIYRHVVYS
                     GGRMVTYEHLREVVFGKSEDEHYPLWKSVIGGMMAGVIGQFLANPTDLVKVQMQMEGK
                     RKLEGKPLRFRGVHHAFAKILAEGGIRGLWAGWVPNIQRAALVNMGDLTTYDTVKHYL
                     VLNTPLEDNIMTHGLSSLCSGLVASILGTPADVIKSRIMNQPRDKQGRGLLYKSSTDC
                     LIQAVQGEGFMSLYKGFLPSWLRMTPWSMVFWLTYEKIREMSGVSPF"
     exon            325..516
                     /gene="SLC25A27"
                     /gene_synonym="UCP4"
                     /inference="alignment:Splign:2.1.0"
     exon            517..601
                     /gene="SLC25A27"
                     /gene_synonym="UCP4"
                     /inference="alignment:Splign:2.1.0"
     exon            602..724
                     /gene="SLC25A27"
                     /gene_synonym="UCP4"
                     /inference="alignment:Splign:2.1.0"
     exon            725..837
                     /gene="SLC25A27"
                     /gene_synonym="UCP4"
                     /inference="alignment:Splign:2.1.0"
     exon            838..922
                     /gene="SLC25A27"
                     /gene_synonym="UCP4"
                     /inference="alignment:Splign:2.1.0"
     exon            923..1015
                     /gene="SLC25A27"
                     /gene_synonym="UCP4"
                     /inference="alignment:Splign:2.1.0"
     exon            1016..1118
                     /gene="SLC25A27"
                     /gene_synonym="UCP4"
                     /inference="alignment:Splign:2.1.0"
     exon            1119..2926
                     /gene="SLC25A27"
                     /gene_synonym="UCP4"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2882..2887
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC25A27"
                     /gene_synonym="UCP4"
                     /note="hexamer: AGTAAA"
     regulatory      2899..2904
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC25A27"
                     /gene_synonym="UCP4"
                     /note="hexamer: AATAAT"
     polyA_site      2903
                     /gene="SLC25A27"
                     /gene_synonym="UCP4"
     polyA_site      2926
                     /gene="SLC25A27"
                     /gene_synonym="UCP4"
                     /note="major polyA site"
ORIGIN      
        1 gtgtttttct attctggggt gtaaggggca gctggaccac tccagctggg actgctagga
       61 aggttgcggg tccacccggc cgagccgaac gagggaaatg gtcctcaccc ggccactcgc
      121 cggttgaaaa ggggccgccc tggcagggaa gcggccgccg cggcgcggtg cagcgcagcg
      181 gcgagaagga gtgcgttatc gtcttgcgct actgctgaat gtccgtcccg gaggaggagg
      241 agaggctttt gccgctgacc cagagatggc cccgagcgag caaattccta ctgtccggct
      301 gcgcggctac cgtggccgag ctagcaacct ttcccctgga tctcacaaaa actcgactcc
      361 aaatgcaagg agaagcagct cttgctcggt tgggagacgg tgcaagagaa tctgccccct
      421 ataggggaat ggtgcgcaca gctctaggga tcattgaaga ggaaggcttt ctaaagcttt
      481 ggcaaggagt gacacccgcc atttacagac acgtagtgta ttctggaggt cgaatggtca
      541 catatgaaca tctccgagag gttgtgtttg gcaaaagtga agatgagcat tatccccttt
      601 ggaaatcagt cattggaggg atgatggctg gtgttattgg ccagttttta gccaatccaa
      661 ctgacctagt gaaggttcag atgcaaatgg aaggaaaaag gaaactggaa ggaaaaccat
      721 tgcgatttcg tggtgtacat catgcatttg caaaaatctt agctgaagga ggaatacgag
      781 ggctttgggc aggctgggta cccaatatac aaagagcagc actggtgaat atgggagatt
      841 taaccactta tgatacagtg aaacactact tggtattgaa tacaccactt gaggacaata
      901 tcatgactca cggtttatca agtttatgtt ctggactggt agcttctatt ctgggaacac
      961 cagccgatgt catcaaaagc agaataatga atcaaccacg agataaacaa ggaaggggac
     1021 ttttgtataa atcatcgact gactgcttga ttcaggctgt tcaaggtgaa ggattcatga
     1081 gtctatataa aggcttttta ccatcttggc tgagaatgac cccttggtca atggtgttct
     1141 ggcttactta tgaaaaaatc agagagatga gtggagtcag tccattttaa acccctaaag
     1201 atgcaaccct taaagataca gtgttcagta ttattgaaat atgggcatct gcaacacata
     1261 ccccctatta tttctacctc tttaggaaga cacctattcc acagagactg atttataggg
     1321 ggcagcactt tatttttttc tggaaaccca agttctcttt gactcctctt tttgtccaaa
     1381 agtgatctgg tcggatctca caaggccatc caatgagacc ccgcacagca ttttctaaag
     1441 aagaatcgaa gcctgaccac tttcaccttg ggcaagaagg tttggccttt gagttgctat
     1501 tctatgctga agagcctgct tagaggagga gtaccaggag ggagccagca tttcagatct
     1561 gaagtagacg ataggaatgt ggaagaacac atacatagtg cttaagaaat acatttaacc
     1621 tgttatgtca gtatttatca atgaagtttg ataattcact tttctgtcat tgttaaagcg
     1681 tacatactgt aaattaaagg gaggtgaatg gaaattaatg aataaacatt ttgagtttcc
     1741 ctagtgttga aggaaggtgt actttttctt gtcagaaaga taaaaaaaat caagttgaga
     1801 tgatgtttga atttcaagaa aagaggctgc tttctgtcag tgccctctca ttagatctgt
     1861 gttaattagt tagcactcca ctgcacatgc taatgacttc ctctgacagc cacacaccga
     1921 atcttgatga aaaaagagaa gagcatttgc cttgttacat agtctgttac aagccagata
     1981 tgttgctagc tctcaagagt tgtaatatat taagaactac aacttatttg attaaaactc
     2041 agctgtatag atccttttat aaagcacctt ttgttaaaca tcagcctttc attggtattt
     2101 taaaagcaag gcagatagat atgaagtcag ccaactctga catgcgtcct ttcttatctc
     2161 ccttacctga cactaggggc tctagagagg cagagagagc actcacaaat cacactaaaa
     2221 ctgccagcgg cctgactctt actcagttta gcaaaaattc ttgcctaaaa agtgataagt
     2281 aaaaatctgt ttatggtata cagttatgtc tcgaatcttt gaatcaaatc catgttctta
     2341 ttttagaaag gtaagagttc ttcaaattca gctacatacc accggctctc ccaacctcag
     2401 acggtgggca tttctggatg gatggctgcg gttatggata aaggctgtaa ctgttaacac
     2461 agaaaaacat gaaaagctca ggcccaagaa aggccttgga gccagccaaa cagaatttgt
     2521 tctaatggac atggatgatg ttgaacagaa aaaagtttac aagtgctttg tggttgcact
     2581 aatgtatact cactgccatt ttaagagggg gaagtacatt ttaaaatata tttgaatgtc
     2641 atgtactgat atgcagtagc ttattgtttt tctagttgca gagaatgtga agtttaatct
     2701 cttaaaatat ttagatggtc tactttttca ttgaatttgt caatatgtaa ttgcgttgta
     2761 aaatattata tatatatata tatatatata tatatatata tgcttaactt cccaagtgtt
     2821 ctgcattgaa ccacttaggg aaaattttgt ttgtttttat gttttgtaat ttttaaaatt
     2881 aagtaaagac tggatcaaaa taattgcatc caacctggac cgtgaa
//
