LOCUS       NM_014655               3467 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens solute carrier family 25 member 44 (SLC25A44),
            transcript variant 2, mRNA.
ACCESSION   NM_014655 XM_044155
VERSION     NM_014655.4
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 3467)
  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 3467)
  AUTHORS   Darbani,B.
  TITLE     Genome Evolutionary Dynamics Meets Functional Genomics: A Case
            Story on the Identification of SLC25A44
  JOURNAL   Int J Mol Sci 22 (11), 5669 (2021)
   PUBMED   34073512
  REMARK    GeneRIF: Genome Evolutionary Dynamics Meets Functional Genomics: A
            Case Story on the Identification of SLC25A44.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3467)
  AUTHORS   Goldstein,O., Gana-Weisz,M., Attar,R., Bar-Shira,A.,
            Lederkremer,M., Shiner,T., Thaler,A., Mirelman,A., Giladi,N. and
            Orr-Urtreger,A.
  TITLE     The GBA-370Rec Parkinson's disease risk haplotype harbors a
            potentially pathogenic variant in the mitochondrial gene SLC25A44
  JOURNAL   Mol Genet Metab 133 (1), 109-112 (2021)
   PUBMED   33762134
  REMARK    GeneRIF: The GBA-370Rec Parkinson's disease risk haplotype harbors
            a potentially pathogenic variant in the mitochondrial gene
            SLC25A44.
REFERENCE   4  (bases 1 to 3467)
  AUTHORS   Yoneshiro,T., Wang,Q., Tajima,K., Matsushita,M., Maki,H.,
            Igarashi,K., Dai,Z., White,P.J., McGarrah,R.W., Ilkayeva,O.R.,
            Deleye,Y., Oguri,Y., Kuroda,M., Ikeda,K., Li,H., Ueno,A.,
            Ohishi,M., Ishikawa,T., Kim,K., Chen,Y., Sponton,C.H.,
            Pradhan,R.N., Majd,H., Greiner,V.J., Yoneshiro,M., Brown,Z.,
            Chondronikola,M., Takahashi,H., Goto,T., Kawada,T., Sidossis,L.,
            Szoka,F.C., McManus,M.T., Saito,M., Soga,T. and Kajimura,S.
  TITLE     BCAA catabolism in brown fat controls energy homeostasis through
            SLC25A44
  JOURNAL   Nature 572 (7771), 614-619 (2019)
   PUBMED   31435015
REFERENCE   5  (bases 1 to 3467)
  AUTHORS   Woo,D., Falcone,G.J., Devan,W.J., Brown,W.M., Biffi,A.,
            Howard,T.D., Anderson,C.D., Brouwers,H.B., Valant,V., Battey,T.W.,
            Radmanesh,F., Raffeld,M.R., Baedorf-Kassis,S., Deka,R., Woo,J.G.,
            Martin,L.J., Haverbusch,M., Moomaw,C.J., Sun,G., Broderick,J.P.,
            Flaherty,M.L., Martini,S.R., Kleindorfer,D.O., Kissela,B.,
            Comeau,M.E., Jagiella,J.M., Schmidt,H., Freudenberger,P.,
            Pichler,A., Enzinger,C., Hansen,B.M., Norrving,B.,
            Jimenez-Conde,J., Giralt-Steinhauer,E., Elosua,R.,
            Cuadrado-Godia,E., Soriano,C., Roquer,J., Kraft,P., Ayres,A.M.,
            Schwab,K., McCauley,J.L., Pera,J., Urbanik,A., Rost,N.S.,
            Goldstein,J.N., Viswanathan,A., Stogerer,E.M., Tirschwell,D.L.,
            Selim,M., Brown,D.L., Silliman,S.L., Worrall,B.B., Meschia,J.F.,
            Kidwell,C.S., Montaner,J., Fernandez-Cadenas,I., Delgado,P.,
            Malik,R., Dichgans,M., Greenberg,S.M., Rothwell,P.M., Lindgren,A.,
            Slowik,A., Schmidt,R., Langefeld,C.D. and Rosand,J.
  CONSRTM   International Stroke Genetics Consortium
  TITLE     Meta-analysis of genome-wide association studies identifies 1q22 as
            a susceptibility locus for intracerebral hemorrhage
  JOURNAL   Am J Hum Genet 94 (4), 511-521 (2014)
   PUBMED   24656865
REFERENCE   6  (bases 1 to 3467)
  AUTHORS   Ruark,E., Seal,S., McDonald,H., Zhang,F., Elliot,A., Lau,K.,
            Perdeaux,E., Rapley,E., Eeles,R., Peto,J., Kote-Jarai,Z., Muir,K.,
            Nsengimana,J., Shipley,J., Bishop,D.T., Stratton,M.R., Easton,D.F.,
            Huddart,R.A., Rahman,N. and Turnbull,C.
  CONSRTM   UK Testicular Cancer Collaboration (UKTCC)
  TITLE     Identification of nine new susceptibility loci for testicular
            cancer, including variants near DAZL and PRDM14
  JOURNAL   Nat Genet 45 (6), 686-689 (2013)
   PUBMED   23666240
REFERENCE   7  (bases 1 to 3467)
  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   8  (bases 1 to 3467)
  AUTHORS   Hendrickson,S.L., Lautenberger,J.A., Chinn,L.W., Malasky,M.,
            Sezgin,E., Kingsley,L.A., Goedert,J.J., Kirk,G.D., Gomperts,E.D.,
            Buchbinder,S.P., Troyer,J.L. and O'Brien,S.J.
  TITLE     Genetic variants in nuclear-encoded mitochondrial genes influence
            AIDS progression
  JOURNAL   PLoS One 5 (9), e12862 (2010)
   PUBMED   20877624
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Publication Status: Online-Only
REFERENCE   9  (bases 1 to 3467)
  AUTHORS   Haitina,T., Lindblom,J., Renstrom,T. and Fredriksson,R.
  TITLE     Fourteen novel human members of mitochondrial solute carrier family
            25 (SLC25) widely expressed in the central nervous system
  JOURNAL   Genomics 88 (6), 779-790 (2006)
   PUBMED   16949250
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL135927.14 and BC008843.2.
            
            On Jun 2, 2019 this sequence version replaced NM_014655.3.
            
            Summary: SLC25A44 belongs to the SLC25 family of mitochondrial
            carrier proteins (Haitina et al., 2006 [PubMed 16949250]).[supplied
            by OMIM, Mar 2008].
            
            Transcript Variant: This variant (2) uses an alternate in-frame
            splice site in the central coding region, compared to variant 1.
            This results in a shorter protein (isoform 2), compared to 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.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC008843.2, SRR1803616.59006.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000359511.5/ ENSP00000352497.4
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-4                 AL135927.14        81792-81795
            5-1772              BC008843.2         1-1768
            1773-3467           BC008843.2         1771-3465
FEATURES             Location/Qualifiers
     source          1..3467
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q22"
     gene            1..3467
                     /gene="SLC25A44"
                     /note="solute carrier family 25 member 44"
                     /db_xref="GeneID:9673"
                     /db_xref="HGNC:HGNC:29036"
                     /db_xref="MIM:610824"
     exon            1..144
                     /gene="SLC25A44"
                     /inference="alignment:Splign:2.1.0"
     exon            145..782
                     /gene="SLC25A44"
                     /inference="alignment:Splign:2.1.0"
     CDS             158..1102
                     /gene="SLC25A44"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /codon_start=1
                     /product="solute carrier family 25 member 44 isoform 2"
                     /protein_id="NP_055470.1"
                     /db_xref="CCDS:CCDS1133.1"
                     /db_xref="GeneID:9673"
                     /db_xref="HGNC:HGNC:29036"
                     /db_xref="MIM:610824"
                     /translation="MEDKRNIQIIEWEHLDKKKFYVFGVAMTMMIRVSVYPFTLIRTR
                     LQVQKGKSLYHGTFDAFIKILRADGITGLYRGFLVNTFTLISGQCYVTTYELTRKFVA
                     DYSQSNTVKSLVAGGSASLVAQSITVPIDVVSQHLMMQRKGEKMGRFQVRGNPEGQGV
                     VAFGQTKDIIRQILQADGLRGFYRGYVASLLTYIPNSAVWWPFYHFYAEQLSYLCPKE
                     CPHIVFQAVSGPLAAATASILTNPMDVIRTRVQVEGKNSIILTFRQLMAEEGPWGLMK
                     GLSARIISATPSTIVIVVGYESLKKLSLRPELVDSRHW"
     exon            783..910
                     /gene="SLC25A44"
                     /inference="alignment:Splign:2.1.0"
     exon            911..3467
                     /gene="SLC25A44"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3442..3447
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC25A44"
                     /note="hexamer: ATTAAA"
     polyA_site      3467
                     /gene="SLC25A44"
                     /note="major polyA site"
ORIGIN      
        1 gtaccggtag cccagtcgag atggaggaag atgcgaccgg cagacggcat tcgctgggaa
       61 cgacggatag actgggggct gcggcctaga ggtccgggct tggagttcgc ctcagacgcg
      121 gtggagccgc cggagtctga gaaggtcttc aggcaccatg gaggacaaac gcaacatcca
      181 gatcatcgag tgggaacacc tggacaagaa gaagttctac gtgtttggtg tggcaatgac
      241 aatgatgatc cgtgtcagtg tctacccatt caccctcatc cgcacccggt tgcaagttca
      301 gaaggggaag agcctctacc atgggacctt cgatgccttc atcaagatcc tgcgagcaga
      361 tggtatcact ggcctctacc gagggttcct ggtcaatacc ttcaccctca tctctggcca
      421 gtgttatgtc accacttatg agctcacccg gaagtttgta gctgactaca gccagagtaa
      481 cacagtcaaa tcactggtgg ctggtggctc agcctccctt gtggcccaga gcatcacagt
      541 gcccattgat gtagtctccc agcacctgat gatgcaacgc aagggtgaga aaatgggccg
      601 ctttcaggtg cgggggaacc cagagggaca aggggtagtt gcctttggcc aaaccaagga
      661 catcatcagg cagatcctgc aggctgatgg acttcgcggc ttctatcgag gctatgtggc
      721 ttcactgctt acctatatcc caaacagtgc tgtctggtgg cccttctatc acttctatgc
      781 agagcagctc tcctacctgt gtcctaagga gtgccctcac attgtctttc aagctgtctc
      841 ggggcccctg gctgcagcca ctgcctccat cctcaccaat cccatggatg tcatacgaac
      901 ccgtgtgcag gttgagggca agaactccat catcctgacc ttcagacagc tgatggcaga
      961 agaagggcct tggggcctca tgaagggcct ctcggccaga atcatctcag ccacaccttc
     1021 caccattgtc attgtggtgg gctatgagag cctcaagaaa ctcagcctcc gacctgagct
     1081 ggtggactcg agacactggt aaccagtggt ggggagagaa gcctgctgtt ttccacacta
     1141 ccgtgggtca ggggcagagt ggagaggaca gcaccctctc caggtgctcc caccacacac
     1201 ccagccctgc cctgggccaa gtggcctatc tgggataggg atagagactt tgaactgctc
     1261 ttgctgaaga ggctccacgc ctggatccct tgcccccact atttaaaatt ctcttctgag
     1321 ctgggctccc tcactcagtc cctgtatttg atactggcct aaagacccca ccccccaccc
     1381 tgccagccct tcttctggct tccccttcca tctgtgtccc tgagaccctg agaagagctg
     1441 tacatagagc ttgcttacta ccactggttc ttcctcttgg gctttcagcc cagactccaa
     1501 gcagctgcta tcaaccctct ctcccttcat ctcttagcct tgcttatttt tattttggga
     1561 ccgagctgcc cactagatga ctctgctttt ccctgcattt ggggctaagg tgccaggtac
     1621 ttatttgcac agggagcagg agcagcaaaa aatctctggt tctccagagc actcgtcctc
     1681 tctttggagg ggttattagg ttgggagaaa tgttgatact tttgttttgt gtgtgtgtgt
     1741 gtgtgtgtgt gtgtgtgtgt gtgtgtgtgt gttttaacat ctgtgaacca ggctattagt
     1801 cctgctaaag cgccaatcct gctgtcagag ctcaccccct tcctaagaca ggtagaaaaa
     1861 tgtaatgtag ctttttccac aagccacttc cctgtccctt cagtctcagg agccctagga
     1921 gagtctaagc tggggcatcc cctggcccag aggactcccg tggtgggcac agttctaagt
     1981 ggatcaggct gtcttgggtg cactggactt ggagcactac cttgagaagt caggttgaga
     2041 aagtagttga tctagaaggc aacaagtggg catgtgttcc ccagcacatt acccaggcca
     2101 gcagagccaa acctaggaga gggcagtggg tagattctct gccccaggca gccatgacat
     2161 acacataaat accccaatca ctcagactta cggcaacaag tgttgtctca ctatggtgat
     2221 ctctaagatc cacatcactg gatgcgtagt catcccagtc atggtaccct gtggaggaat
     2281 gctggaagaa cataaagagc agttcagaaa gtcacccaat accaggacca ctgcatttac
     2341 cagcctgata ctgccaagat tatctgatgc tctcctcagg agctaggaga ggagtgctcc
     2401 ttcctcccta ccgctactct ccccaagcct gtgttgcagg tagagaggtg cagcaaatag
     2461 agaaggcatg tcaaaccctg catttctacc tgagacgtgt gacctggatg atcctccaaa
     2521 ccctattggt cccaccccct gggaaaggcc atggtgccag tttgaaaggt gctagctacc
     2581 tgaagccttg atatttcttc atggctgccg cacattcttc caccttggcc agaacaggtt
     2641 ctgaaaacca cttctctacc ttcaccacca ccactgccca tcttgatctc tttgagggtt
     2701 ttcccatttc acttgatctt atttttgttt atcccttcct gcactttgtc aagagagtcc
     2761 tccagtttct atccaggaat gttcacatcc aaagggttgg acccacggat cattctgaat
     2821 cttcctgccc ctcctcactg cttaaccctg agaaccacaa atataatgga agcagttccc
     2881 cccaccctca ccccatctct ttaagctcat cctagcaaga cctctagaga ccctagagac
     2941 tcgactttag tccttccccg ccatggcaca gtggggaagg tgtcaatggg gagtgtcacg
     3001 gacaggaggt aggatcctgc cgctcgcgtc ttagtgtttc tccctcaaga ctttccttct
     3061 gttttgttgt cttgtgcagt attttacagc ccctcttgtg tttttcttta tttctcgtac
     3121 acacacgcag ttttaagggt gatgtgtgta taattaaaag gacccttggc ccatactttc
     3181 ctaattcttt agggactggg attgggtttg actgaaatat gttttggtgg ggatgggacg
     3241 gtggacttcc attctcccta aactggagtt ttggtcggta atcaaaacta aaagaaacct
     3301 ctgggagact ggaaacctga ttggagcact gaggaacaag ggaatgaaaa ggcagactct
     3361 ctgaacgttt gatgaaatgg actcttgtga aaattaacag tgaatattca ctgttgcact
     3421 gtacgaagtc tctgaaatgt aattaaaagt ttttattgag cccccga
//
