LOCUS       NM_001349336            1734 bp    mRNA    linear   PRI 24-OCT-2024
DEFINITION  Homo sapiens solute carrier family 25 member 48 (SLC25A48),
            transcript variant 1, mRNA.
ACCESSION   NM_001349336 XM_017009086
VERSION     NM_001349336.2
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 1734)
  AUTHORS   Verkerke,A.R.P., Shi,X., Li,M., Higuchi,Y., Yamamuro,T., Katoh,D.,
            Nishida,H., Auger,C., Abe,I., Gerszten,R.E. and Kajimura,S.
  TITLE     SLC25A48 controls mitochondrial choline import and metabolism
  JOURNAL   Cell Metab 36 (9), 2156-2166 (2024)
   PUBMED   39111307
  REMARK    GeneRIF: SLC25A48 controls mitochondrial choline import and
            metabolism.
REFERENCE   2  (bases 1 to 1734)
  AUTHORS   Bernard,D.J., Pangilinan,F., Mendina,C., Desporte,T.,
            Wincovitch,S.M., Walsh,D.J., Porter,R.K., Molloy,A.M., Shane,B. and
            Brody,L.C.
  TITLE     SLC25A48 influences plasma levels of choline and localizes to the
            inner mitochondrial membrane
  JOURNAL   Mol Genet Metab 143 (1-2), 108518 (2024)
   PUBMED   39047301
  REMARK    GeneRIF: SLC25A48 influences plasma levels of choline and localizes
            to the inner mitochondrial membrane.
REFERENCE   3  (bases 1 to 1734)
  AUTHORS   Khan,A., Unlu,G., Lin,P., Liu,Y., Kilic,E., Kenny,T.C., Birsoy,K.
            and Gamazon,E.R.
  TITLE     Metabolic gene function discovery platform GeneMAP identifies
            SLC25A48 as necessary for mitochondrial choline import
  JOURNAL   Nat Genet 56 (8), 1614-1623 (2024)
   PUBMED   38977856
  REMARK    GeneRIF: Metabolic gene function discovery platform GeneMAP
            identifies SLC25A48 as necessary for mitochondrial choline import.
REFERENCE   4  (bases 1 to 1734)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (bases 1 to 1734)
  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   6  (bases 1 to 1734)
  AUTHORS   Comuzzie,A.G., Cole,S.A., Laston,S.L., Voruganti,V.S., Haack,K.,
            Gibbs,R.A. and Butte,N.F.
  TITLE     Novel genetic loci identified for the pathophysiology of childhood
            obesity in the Hispanic population
  JOURNAL   PLoS One 7 (12), e51954 (2012)
   PUBMED   23251661
REFERENCE   7  (bases 1 to 1734)
  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   8  (bases 1 to 1734)
  AUTHORS   Hosgood,H.D. 3rd, Zhang,L., Shen,M., Berndt,S.I., Vermeulen,R.,
            Li,G., Yin,S., Yeager,M., Yuenger,J., Rothman,N., Chanock,S.,
            Smith,M. and Lan,Q.
  TITLE     Association between genetic variants in VEGF, ERCC3 and
            occupational benzene haematotoxicity
  JOURNAL   Occup Environ Med 66 (12), 848-853 (2009)
   PUBMED   19773279
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC011427.4, BC025747.1, BG700532.1 and BM704498.1.
            
            On Aug 13, 2020 this sequence version replaced NM_001349336.1.
            
            Transcript Variant: This variant (1) represents the longest isoform
            (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660803.143218.1,
                                           SRR1803616.95505.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1970526, SAMEA2145743
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000681962.1/
                                                  ENSP00000506858.1
            RefSeq Select criteria             :: based on conservation,
                                                  expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-64                AC011427.4         55742-55805         c
            65-250              BC025747.1         1-186
            251-275             BG700532.1         222-246
            276-606             BC025747.1         212-542
            607-771             BM704498.1         423-587
            772-864             AC011427.4         18750-18842         c
            865-998             AC011427.4         16314-16447         c
            999-1128            AC011427.4         10371-10500         c
            1129-1734           BC025747.1         543-1148
FEATURES             Location/Qualifiers
     source          1..1734
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q31.1"
     gene            1..1734
                     /gene="SLC25A48"
                     /note="solute carrier family 25 member 48"
                     /db_xref="GeneID:153328"
                     /db_xref="HGNC:HGNC:30451"
                     /db_xref="MIM:616150"
     exon            1..231
                     /gene="SLC25A48"
                     /inference="alignment:Splign:2.1.0"
     CDS             186..1121
                     /gene="SLC25A48"
                     /note="isoform 1 is encoded by transcript variant 1;
                     CTC-321K16.1"
                     /codon_start=1
                     /product="solute carrier family 25 member 48 isoform 1"
                     /protein_id="NP_001336265.1"
                     /db_xref="CCDS:CCDS93786.1"
                     /db_xref="GeneID:153328"
                     /db_xref="HGNC:HGNC:30451"
                     /db_xref="MIM:616150"
                     /translation="MGSFQLEDFAAGWIGGAASVIVGHPLDTVKTRLQAGVGYGNTLS
                     CIRVVYRRESMFGFFKGMSFPLASIAVYNSVVFGVFSNTQRFLSQHRCGEPEASPPRT
                     LSDLLLASMVAGVVSVGLGGPVDLIKIRLQMQTQPFRDANLGLKSRAVAPAEQPAYQG
                     PVHCITTIVRNEGLAGLYRGASAMLLRDVPGYCLYFIPYVFLSEWITPEACTGPSPCA
                     VWLAGGMAGAISWGTATPMDVVKSRLQADGVYLNKYKGVLDCISQSYQKEGLKVFFRG
                     ITVNAVRGFPMSAAMFLGYELSLQAIRGDHAVTSP"
     exon            232..275
                     /gene="SLC25A48"
                     /inference="alignment:Splign:2.1.0"
     exon            276..347
                     /gene="SLC25A48"
                     /inference="alignment:Splign:2.1.0"
     exon            348..606
                     /gene="SLC25A48"
                     /inference="alignment:Splign:2.1.0"
     exon            607..864
                     /gene="SLC25A48"
                     /inference="alignment:Splign:2.1.0"
     exon            865..998
                     /gene="SLC25A48"
                     /inference="alignment:Splign:2.1.0"
     exon            999..1128
                     /gene="SLC25A48"
                     /inference="alignment:Splign:2.1.0"
     exon            1129..1734
                     /gene="SLC25A48"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1704..1709
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC25A48"
                     /note="hexamer: AATAAA"
     regulatory      1708..1713
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC25A48"
                     /note="hexamer: AATGAA"
     polyA_site      1709
                     /gene="SLC25A48"
                     /note="major polyA site"
     polyA_site      1734
                     /gene="SLC25A48"
                     /note="major polyA site"
ORIGIN      
        1 acttggagag gtgagcgcgg cagcccgcgc agccggtgac tgggggactg ggtttggagt
       61 aggacctgcg gcgtgctcga gactccgact tcggtcttgc ggcgcgctcg cgcccgcggg
      121 ccatgcccca ctgactctaa gtgggcactg ccccggctcc gggagggcga gaccgagcgc
      181 cggccatggg aagcttccag ctggaagact ttgcggcggg ctggatcgga ggtgcagcca
      241 gtgtcatcgt tggccaccct ctggacacag tcaagactcg cctgcaggct ggcgttggct
      301 acggaaacac cctcagctgc atccgcgtgg tgtacaggag ggagagtatg ttcggcttct
      361 tcaagggcat gtccttcccc ctcgccagca ttgccgtcta caactccgtg gtgtttgggg
      421 tcttcagtaa cacgcagcgg ttcctcagcc agcaccgctg cggggagcca gaggccagtc
      481 ctccccgcac gctgtcagac ctgctcctgg ccagcatggt ggccggcgtg gtctctgtcg
      541 ggctgggagg gcccgtggac ctcatcaaga tccggttgca gatgcagaca caaccgtttc
      601 gggacgccaa cctcggtttg aagtccaggg cagtggctcc tgcggagcag ccagcatacc
      661 aggggccagt gcactgcatt acaaccattg tgaggaatga gggcctggcg gggctatacc
      721 ggggggccag tgccatgctg ctgagggatg tcccaggcta ttgcctctac ttcatcccct
      781 acgtgttcct gagtgagtgg atcacacctg aggcctgcac aggccccagc ccctgtgccg
      841 tgtggctggc gggcggcatg gcaggagcaa tttcttgggg gacagcgact cctatggatg
      901 tcgtgaaaag tcgactccaa gctgatgggg tttatttaaa caaatataaa ggtgtcctgg
      961 actgtatctc ccagagttac cagaaggaag gtcttaaagt gtttttcaga ggcatcactg
     1021 tgaacgcggt gcggggcttc cccatgagtg cggccatgtt ccttgggtac gagctgtcgc
     1081 tgcaggctat ccgcggggac cacgcagtga cgagcccata agcgccagga ggtgaacaca
     1141 ggatgactac agtgttccct gggcctcatc tctgcatgtg aagccctgag agctgcagat
     1201 gtttggcctt tggacctcca agtggacatc aattagcaag cgtgggctag gatggtgcag
     1261 acactgacgt ggcccttctg atgcctggga tgcctcatga gtcactgatt caagccctcc
     1321 aaggttctga tccccaatgc ccactctgct aggctggcat caaagagctt tccaagaaat
     1381 gtttggtcca gctgagaagt cctgaccatg agcaccaggg agccagaaac cacccagaga
     1441 aacgttgctt cactcctctg tctgaggatg gggaggggcc agtgagctct gggctcagcc
     1501 actccctcca gtctcaagta acacgtcccc gtgcctccag tctcctctca gcaccgacca
     1561 ggtttttccc cgctcctgca cccgtggatc ctgaggacag cggtagcgcc ttcctcaccg
     1621 cacgctgagt ccagtgcgtg ctcctcactg tgcacttatt agtgtctgtt gagtgattaa
     1681 atcacatcct caggtctgca gcaaataaat gaaagtttct ttatttttta ttaa
//
