LOCUS       NM_001282195            1615 bp    mRNA    linear   PRI 03-OCT-2024
DEFINITION  Homo sapiens solute carrier family 25 member 14 (SLC25A14),
            transcript variant 1, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_001282195 XM_005262486
VERSION     NM_001282195.2
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 1615)
  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 1615)
  AUTHORS   Gorgoglione,R., Porcelli,V., Santoro,A., Daddabbo,L., Vozza,A.,
            Monne,M., Di Noia,M.A., Palmieri,L., Fiermonte,G. and Palmieri,F.
  TITLE     The human uncoupling proteins 5 and 6 (UCP5/SLC25A14 and
            UCP6/SLC25A30) transport sulfur oxyanions, phosphate and
            dicarboxylates
  JOURNAL   Biochim Biophys Acta Bioenerg 1860 (9), 724-733 (2019)
   PUBMED   31356773
REFERENCE   3  (bases 1 to 1615)
  AUTHORS   Hoang,T., Kuljanin,M., Smith,M.D. and Jelokhani-Niaraki,M.
  TITLE     A biophysical study on molecular physiology of the uncoupling
            proteins of the central nervous system
  JOURNAL   Biosci Rep 35 (4), e00226 (2015)
   PUBMED   26182433
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1615)
  AUTHORS   Palmieri,F.
  TITLE     The mitochondrial transporter family SLC25: identification,
            properties and physiopathology
  JOURNAL   Mol Aspects Med 34 (2-3), 465-484 (2013)
   PUBMED   23266187
  REMARK    GeneRIF: Compares and contrasts all the known human SLC25A* genes
            and includes functional information.
            Review article
REFERENCE   5  (bases 1 to 1615)
  AUTHORS   Xu,Y., Liu,Y., Xia,C., Gao,P. and Liu,J.Z.
  TITLE     Evidence for involvement of uncoupling proteins in cerebral
            mitochondrial oxidative phosphorylation deficiency of rats exposed
            to 5,000 m high altitude
  JOURNAL   Neurochem Res 38 (2), 282-289 (2013)
   PUBMED   23266757
  REMARK    GeneRIF: Increased expression of cerebral UCP5 and UCP4 is observed
            in a model of high altitude hypoxia and mitochondrial oxidative
            phosphorylation deficiency.
REFERENCE   6  (bases 1 to 1615)
  AUTHORS   Kim-Han,J.S., Reichert,S.A., Quick,K.L. and Dugan,L.L.
  TITLE     BMCP1: a mitochondrial uncoupling protein in neurons which
            regulates mitochondrial function and oxidant production
  JOURNAL   J Neurochem 79 (3), 658-668 (2001)
   PUBMED   11701769
REFERENCE   7  (bases 1 to 1615)
  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 1615)
  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 1615)
  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 1615)
  AUTHORS   Sanchis,D., Fleury,C., Chomiki,N., Goubern,M., Huang,Q.,
            Neverova,M., Gregoire,F., Easlick,J., Raimbault,S.,
            Levi-Meyrueis,C., Miroux,B., Collins,S., Seldin,M., Richard,D.,
            Warden,C., Bouillaud,F. and Ricquier,D.
  TITLE     BMCP1, a novel mitochondrial carrier with high expression in the
            central nervous system of humans and rodents, and respiration
            uncoupling activity in recombinant yeast
  JOURNAL   J Biol Chem 273 (51), 34611-34615 (1998)
   PUBMED   9852133
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB485834.2 and AF078544.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_001282195.1.
            
            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].
            
            Transcript Variant: This variant (1, also known as UCP5L or long)
            encodes isoform 1.
            
            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 :: SRR3476690.295817.1,
                                           SRR3476690.487523.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2144333
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000545805.6/
                                                  ENSP00000444642.2
            RefSeq Select criteria             :: based on conservation
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-58                DB485834.2         32-89
            59-1615             AF078544.2         35-1591
FEATURES             Location/Qualifiers
     source          1..1615
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq26.1"
     gene            1..1615
                     /gene="SLC25A14"
                     /gene_synonym="BMCP1; UCP5"
                     /note="solute carrier family 25 member 14"
                     /db_xref="GeneID:9016"
                     /db_xref="HGNC:HGNC:10984"
                     /db_xref="MIM:300242"
     exon            1..58
                     /gene="SLC25A14"
                     /gene_synonym="BMCP1; UCP5"
                     /inference="alignment:Splign:2.1.0"
     exon            59..305
                     /gene="SLC25A14"
                     /gene_synonym="BMCP1; UCP5"
                     /inference="alignment:Splign:2.1.0"
     CDS             231..1208
                     /gene="SLC25A14"
                     /gene_synonym="BMCP1; UCP5"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; brain mitochondrial carrier protein 1;
                     mitochondrial uncoupling protein 5"
                     /codon_start=1
                     /product="brain mitochondrial carrier protein 1 isoform 1
                     precursor"
                     /protein_id="NP_001269124.1"
                     /db_xref="CCDS:CCDS14623.1"
                     /db_xref="GeneID:9016"
                     /db_xref="HGNC:HGNC:10984"
                     /db_xref="MIM:300242"
                     /translation="MGIFPGIILIFLRVKFATAAVIVSGHQKSTTVSHEMSGLNWKPF
                     VYGGLASIVAEFGTFPVDLTKTRLQVQGQSIDARFKEIKYRGMFHALFRICKEEGVLA
                     LYSGIAPALLRQASYGTIKIGIYQSLKRLFVERLEDETLLINMICGVVSGVISSTIAN
                     PTDVLKIRMQAQGSLFQGSMIGSFIDIYQQEGTRGLWRGVVPTAQRAAIVVGVELPVY
                     DITKKHLILSGMMGDTILTHFVSSFTCGLAGALASNPVDVVRTRMMNQRAIVGHVDLY
                     KGTVDGILKMWKHEGFFALYKGFWPNWLRLGPWNIIFFITYEQLKRLQI"
     exon            306..399
                     /gene="SLC25A14"
                     /gene_synonym="BMCP1; UCP5"
                     /inference="alignment:Splign:2.1.0"
     exon            400..547
                     /gene="SLC25A14"
                     /gene_synonym="BMCP1; UCP5"
                     /inference="alignment:Splign:2.1.0"
     exon            548..642
                     /gene="SLC25A14"
                     /gene_synonym="BMCP1; UCP5"
                     /inference="alignment:Splign:2.1.0"
     exon            643..728
                     /gene="SLC25A14"
                     /gene_synonym="BMCP1; UCP5"
                     /inference="alignment:Splign:2.1.0"
     exon            729..824
                     /gene="SLC25A14"
                     /gene_synonym="BMCP1; UCP5"
                     /inference="alignment:Splign:2.1.0"
     exon            825..949
                     /gene="SLC25A14"
                     /gene_synonym="BMCP1; UCP5"
                     /inference="alignment:Splign:2.1.0"
     exon            950..1085
                     /gene="SLC25A14"
                     /gene_synonym="BMCP1; UCP5"
                     /inference="alignment:Splign:2.1.0"
     exon            1086..1166
                     /gene="SLC25A14"
                     /gene_synonym="BMCP1; UCP5"
                     /inference="alignment:Splign:2.1.0"
     exon            1167..1615
                     /gene="SLC25A14"
                     /gene_synonym="BMCP1; UCP5"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1594..1599
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC25A14"
                     /gene_synonym="BMCP1; UCP5"
                     /note="hexamer: ATTAAA"
     polyA_site      1615
                     /gene="SLC25A14"
                     /gene_synonym="BMCP1; UCP5"
                     /note="major polyA site"
ORIGIN      
        1 agtggcgttt ccgactgtgg gagcctcagc ttcccagtcg tccgatgagc ccgagcagct
       61 gagtcccttc cctgtctttc actcttctgg catcggtggt tttacttctt cgattgaacc
      121 ctgcttcctc gacccccctg ggaggccgcc ttcttcaggc gcctcccttc tctccacgag
      181 ctcgctctga cagctgagga actggcaaga tcctgctacc cagagggtga atgggtatct
      241 ttcccggaat aatcctaatt tttctaaggg tgaagtttgc aacggcggcc gtgattgtaa
      301 gcggacacca gaaaagtacc actgtaagtc atgagatgtc tggtctgaat tggaaaccct
      361 ttgtatatgg cggccttgcc tctatcgtgg ctgagtttgg gactttccct gtggacctta
      421 ccaaaacacg acttcaggtt caaggccaaa gcattgatgc ccgtttcaaa gagataaaat
      481 atagagggat gttccatgcg ctgtttcgca tctgtaaaga ggaaggtgta ttggctctct
      541 attcaggaat tgctcctgcg ttgctaagac aagcatcata tggcaccatt aaaattggga
      601 tttaccaaag cttgaagcgc ttattcgtag aacgtttaga agatgaaact cttttaatta
      661 atatgatctg tggggtagtg tcaggagtga tatcttccac tatagccaat cccaccgatg
      721 ttctaaagat tcgaatgcag gctcaaggaa gcttgttcca agggagcatg attggaagct
      781 ttatcgatat ataccaacaa gaaggcacca ggggtctgtg gaggggtgtg gttccaactg
      841 ctcagcgtgc tgccatcgtt gtaggagtag agctaccagt ctatgatatt actaagaagc
      901 atttaatatt gtcaggaatg atgggcgata caattttaac tcacttcgtt tccagcttta
      961 catgtggttt ggctggggct ctggcctcca acccggttga tgtggttcga actcgcatga
     1021 tgaaccagag ggcaatcgtg ggacatgtgg atctctataa gggcactgtt gatggtattt
     1081 taaagatgtg gaaacatgag ggcttttttg cactctataa aggattttgg ccaaactggc
     1141 ttcggcttgg accctggaac atcatttttt ttattacata cgagcagcta aagaggcttc
     1201 aaatctaaga actgaattat atgtgagccc agccctgcca gcctttctac tcctttgccc
     1261 ttttcccgtg ttctaatgta ttttgacaat gttgtaagtg tttaccaagc cgttggtctc
     1321 ctaagggcct cctgatggaa gaacagtggg gtggttcaaa gttatttcta tgtttgtgtt
     1381 accatgttaa cttttccccg agagaaagtg ttaacattga gactctggcc ccagattggt
     1441 atcttctatg aagatggata ctgatgggtg acattgaaaa cggcctgctt tccaaatgtg
     1501 gttaaatgta attggttagc cccagacttg ggctagagca gaaggcatag gccagggtgg
     1561 ttattgctat atgtgttaca gacctcggtt ctcattaaag tatttattgg cagaa
//
