LOCUS       NM_001386140            3920 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens microsomal triglyceride transfer protein (MTTP),
            transcript variant 3, mRNA.
ACCESSION   NM_001386140
VERSION     NM_001386140.1
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 3920)
  AUTHORS   Anaganti,N., Valmiki,S., Recacha,R., Islam,S., Farber,S.,
            Ruddock,L. and Hussain,M.M.
  TITLE     Bulky hydrophobic side chains in the beta1-sandwich of microsomal
            triglyceride transfer protein are critical for the transfer of both
            triglycerides and phospholipids
  JOURNAL   J Biol Chem 300 (3), 105726 (2024)
   PUBMED   38325741
  REMARK    GeneRIF: Bulky hydrophobic side chains in the beta1-sandwich of
            microsomal triglyceride transfer protein are critical for the
            transfer of both triglycerides and phospholipids.
REFERENCE   2  (bases 1 to 3920)
  AUTHORS   Prata,T.V.G., Paula,V.G., Passos,L.O., Brogiato,V.L.B.,
            Ferreira,G.M., Manchiero,C., Dantas,B.P., Battaglia,D.B.R.,
            Figueiredo,G.M., Tengan,F.M. and Magri,M.C.
  TITLE     Exploring the combined effects of MTTP gene polymorphisms in
            chronic hepatitis C patients with hepatic steatosis
  JOURNAL   Clin Res Hepatol Gastroenterol 48 (3), 102291 (2024)
   PUBMED   38290649
  REMARK    GeneRIF: Exploring the combined effects of MTTP gene polymorphisms
            in chronic hepatitis C patients with hepatic steatosis.
REFERENCE   3  (bases 1 to 3920)
  AUTHORS   van Zwol,W., Rimbert,A., Wolters,J.C., Smit,M., Bloks,V.W.,
            Kloosterhuis,N.J., Huijkman,N.C.A., Koster,M.H., Tharehalli,U., de
            Neck,S.M., Bournez,C., Fuh,M.M., Kuipers,J., Rajan,S., de Bruin,A.,
            Ginsberg,H.N., van Westen,G.J.P., Hussain,M.M., Scheja,L.,
            Heeren,J., Zimmerman,P., van de Sluis,B. and Kuivenhoven,J.A.
  TITLE     Loss of hepatic SMLR1 causes hepatosteatosis and protects against
            atherosclerosis due to decreased hepatic VLDL secretion
  JOURNAL   Hepatology 78 (5), 1418-1432 (2023)
   PUBMED   36053190
  REMARK    GeneRIF: Loss of hepatic SMLR1 causes hepatosteatosis and protects
            against atherosclerosis due to decreased hepatic VLDL secretion.
REFERENCE   4  (bases 1 to 3920)
  AUTHORS   Wang,X., Cao,Y., Guo,J., Li,D., Zhang,H., Song,Q. and Lu,J.
  TITLE     Association between MTTP genotype (-493G/T) polymorphism and
            hepatic steatosis in hepatitis C: a systematic review and
            meta-analysis
  JOURNAL   Lipids Health Dis 22 (1), 154 (2023)
   PUBMED   37726765
  REMARK    GeneRIF: Association between MTTP genotype (-493G/T) polymorphism
            and hepatic steatosis in hepatitis C: a systematic review and
            meta-analysis.
            Review article
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3920)
  AUTHORS   Rajan,S., Hofer,P., Christiano,A., Stevenson,M., Ragolia,L.,
            Villa-Cuesta,E., Fried,S.K., Lau,R., Braithwaite,C., Zechner,R.,
            Schwartz,G.J. and Hussain,M.M.
  TITLE     Microsomal triglyceride transfer protein regulates intracellular
            lipolysis in adipocytes independent of its lipid transfer activity
  JOURNAL   Metabolism 137, 155331 (2022)
   PUBMED   36228741
  REMARK    GeneRIF: Microsomal triglyceride transfer protein regulates
            intracellular lipolysis in adipocytes independent of its lipid
            transfer activity.
REFERENCE   6  (bases 1 to 3920)
  AUTHORS   Hagan,D.L., Kienzle,B., Jamil,H. and Hariharan,N.
  TITLE     Transcriptional regulation of human and hamster microsomal
            triglyceride transfer protein genes. Cell type-specific expression
            and response to metabolic regulators
  JOURNAL   J Biol Chem 269 (46), 28737-28744 (1994)
   PUBMED   7961826
REFERENCE   7  (bases 1 to 3920)
  AUTHORS   Sharp,D., Ricci,B., Kienzle,B., Lin,M.C. and Wetterau,J.R.
  TITLE     Human microsomal triglyceride transfer protein large subunit gene
            structure
  JOURNAL   Biochemistry 33 (31), 9057-9061 (1994)
   PUBMED   7545943
REFERENCE   8  (bases 1 to 3920)
  AUTHORS   Shoulders,C.C., Narcisi,T.M., Read,J., Chester,A., Brett,D.J.,
            Scott,J., Anderson,T.A., Levitt,D.G. and Banaszak,L.J.
  TITLE     The abetalipoproteinemia gene is a member of the vitellogenin
            family and encodes an alpha-helical domain
  JOURNAL   Nat Struct Biol 1 (5), 285-286 (1994)
   PUBMED   7664034
REFERENCE   9  (bases 1 to 3920)
  AUTHORS   Burnett,J.R., Hooper,A.J. and Hegele,R.A.
  TITLE     Abetalipoproteinemia
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   30358967
REFERENCE   10 (bases 1 to 3920)
  AUTHORS   Wetterau,J.R., Aggerbeck,L.P., Bouma,M.E., Eisenberg,C., Munck,A.,
            Hermier,M., Schmitz,J., Gay,G., Rader,D.J. and Gregg,R.E.
  TITLE     Absence of microsomal triglyceride transfer protein in individuals
            with abetalipoproteinemia
  JOURNAL   Science 258 (5084), 999-1001 (1992)
   PUBMED   1439810
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC083902.5.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: MTP encodes the large subunit of the heterodimeric
            microsomal triglyceride transfer protein. Protein disulfide
            isomerase (PDI) completes the heterodimeric microsomal triglyceride
            transfer protein, which has been shown to play a central role in
            lipoprotein assembly. Mutations in MTP can cause
            abetalipoproteinemia. [provided by RefSeq, Jul 2008].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on 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 :: X91148.1, X59657.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA1970526
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000265517.10/ ENSP00000265517.5
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-147               AC083902.5         107472-107618
            148-335             AC083902.5         114553-114740
            336-479             AC083902.5         116022-116165
            480-587             AC083902.5         122291-122398
            588-704             AC083902.5         123883-123999
            705-844             AC083902.5         124299-124438
            845-995             AC083902.5         127381-127531
            996-1153            AC083902.5         129715-129872
            1154-1322           AC083902.5         133213-133381
            1323-1430           AC083902.5         134255-134362
            1431-1643           AC083902.5         139396-139608
            1644-1855           AC083902.5         141414-141625
            1856-1953           AC083902.5         143791-143888
            1954-2075           AC083902.5         143980-144101
            2076-2303           AC083902.5         145561-145788
            2304-2428           AC083902.5         151622-151746
            2429-2599           AC083902.5         153709-153879
            2600-3920           AC083902.5         155325-156645
FEATURES             Location/Qualifiers
     source          1..3920
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q23"
     gene            1..3920
                     /gene="MTTP"
                     /gene_synonym="ABL; MTP"
                     /note="microsomal triglyceride transfer protein"
                     /db_xref="GeneID:4547"
                     /db_xref="HGNC:HGNC:7467"
                     /db_xref="MIM:157147"
     exon            1..147
                     /gene="MTTP"
                     /gene_synonym="ABL; MTP"
                     /inference="alignment:Splign:2.1.0"
     CDS             87..2771
                     /gene="MTTP"
                     /gene_synonym="ABL; MTP"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 3; microsomal triglyceride transfer protein (large
                     polypeptide, 88kDa); microsomal triglyceride transfer
                     protein large subunit"
                     /codon_start=1
                     /product="microsomal triglyceride transfer protein large
                     subunit isoform 1 precursor"
                     /protein_id="NP_001373069.1"
                     /db_xref="CCDS:CCDS3651.1"
                     /db_xref="GeneID:4547"
                     /db_xref="HGNC:HGNC:7467"
                     /db_xref="MIM:157147"
                     /translation="MILLAVLFLCFISSYSASVKGHTTGLSLNNDRLYKLTYSTEVLL
                     DRGKGKLQDSVGYRISSNVDVALLWRNPDGDDDQLIQITMKDVNVENVNQQRGEKSIF
                     KGKSPSKIMGKENLEALQRPTLLHLIHGKVKEFYSYQNEAVAIENIKRGLASLFQTQL
                     SSGTTNEVDISGNCKVTYQAHQDKVIKIKALDSCKIARSGFTTPNQVLGVSSKATSVT
                     TYKIEDSFVIAVLAEETHNFGLNFLQTIKGKIVSKQKLELKTTEAGPRLMSGKQAAAI
                     IKAVDSKYTAIPIVGQVFQSHCKGCPSLSELWRSTRKYLQPDNLSKAEAVRNFLAFIQ
                     HLRTAKKEEILQILKMENKEVLPQLVDAVTSAQTSDSLEAILDFLDFKSDSSIILQER
                     FLYACGFASHPNEELLRALISKFKGSIGSSDIRETVMIITGTLVRKLCQNEGCKLKAV
                     VEAKKLILGGLEKAEKKEDTRMYLLALKNALLPEGIPSLLKYAEAGEGPISHLATTAL
                     QRYDLPFITDEVKKTLNRIYHQNRKVHEKTVRTAAAAIILNNNPSYMDVKNILLSIGE
                     LPQEMNKYMLAIVQDILRFEMPASKIVRRVLKEMVAHNYDRFSRSGSSSAYTGYIERS
                     PRSASTYSLDILYSGSGILRRSNLNIFQYIGKAGLHGSQVVIEAQGLEALIAATPDEG
                     EENLDSYAGMSAILFDVQLRPVTFFNGYSDLMSKMLSASGDPISVVKGLILLIDHSQE
                     LQLQSGLKANIEVQGGLAIDISGAMEFSLWYRESKTRVKNRVTVVITTDITVDSSFVK
                     AGLETSTETEAGLEFISTVQFSQYPFLVCMQMDKDEAPFRQFEKKYERLSTGRGYVSQ
                     KRKESVLAGCEFPLHQENSEMCKVVFAPQPDSTSSGWF"
     exon            148..335
                     /gene="MTTP"
                     /gene_synonym="ABL; MTP"
                     /inference="alignment:Splign:2.1.0"
     exon            336..479
                     /gene="MTTP"
                     /gene_synonym="ABL; MTP"
                     /inference="alignment:Splign:2.1.0"
     exon            480..587
                     /gene="MTTP"
                     /gene_synonym="ABL; MTP"
                     /inference="alignment:Splign:2.1.0"
     exon            588..704
                     /gene="MTTP"
                     /gene_synonym="ABL; MTP"
                     /inference="alignment:Splign:2.1.0"
     exon            705..844
                     /gene="MTTP"
                     /gene_synonym="ABL; MTP"
                     /inference="alignment:Splign:2.1.0"
     exon            845..995
                     /gene="MTTP"
                     /gene_synonym="ABL; MTP"
                     /inference="alignment:Splign:2.1.0"
     exon            996..1153
                     /gene="MTTP"
                     /gene_synonym="ABL; MTP"
                     /inference="alignment:Splign:2.1.0"
     exon            1154..1322
                     /gene="MTTP"
                     /gene_synonym="ABL; MTP"
                     /inference="alignment:Splign:2.1.0"
     exon            1323..1430
                     /gene="MTTP"
                     /gene_synonym="ABL; MTP"
                     /inference="alignment:Splign:2.1.0"
     exon            1431..1643
                     /gene="MTTP"
                     /gene_synonym="ABL; MTP"
                     /inference="alignment:Splign:2.1.0"
     exon            1644..1855
                     /gene="MTTP"
                     /gene_synonym="ABL; MTP"
                     /inference="alignment:Splign:2.1.0"
     exon            1856..1953
                     /gene="MTTP"
                     /gene_synonym="ABL; MTP"
                     /inference="alignment:Splign:2.1.0"
     exon            1954..2075
                     /gene="MTTP"
                     /gene_synonym="ABL; MTP"
                     /inference="alignment:Splign:2.1.0"
     exon            2076..2303
                     /gene="MTTP"
                     /gene_synonym="ABL; MTP"
                     /inference="alignment:Splign:2.1.0"
     exon            2304..2428
                     /gene="MTTP"
                     /gene_synonym="ABL; MTP"
                     /inference="alignment:Splign:2.1.0"
     exon            2429..2599
                     /gene="MTTP"
                     /gene_synonym="ABL; MTP"
                     /inference="alignment:Splign:2.1.0"
     exon            2600..3920
                     /gene="MTTP"
                     /gene_synonym="ABL; MTP"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3776..3781
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MTTP"
                     /gene_synonym="ABL; MTP"
                     /note="hexamer: AATAAA"
     polyA_site      3804
                     /gene="MTTP"
                     /gene_synonym="ABL; MTP"
     regulatory      3902..3907
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MTTP"
                     /gene_synonym="ABL; MTP"
                     /note="hexamer: AATAAA"
     polyA_site      3920
                     /gene="MTTP"
                     /gene_synonym="ABL; MTP"
                     /note="major polyA site"
ORIGIN      
        1 actccctcac tggctgccat tgaaagagtc cacttctcag tgactcctag ctgggcactg
       61 gatgcagttg aggattgctg gtcaatatga ttcttcttgc tgtgcttttt ctctgcttca
      121 tttcctcata ttcagcttct gttaaaggtc acacaactgg tctctcatta aataatgacc
      181 ggctgtacaa gctcacgtac tccactgaag ttcttcttga tcggggcaaa ggaaaactgc
      241 aagacagcgt gggctaccgc atttcctcca acgtggatgt ggccttacta tggaggaatc
      301 ctgatggtga tgatgaccag ttgatccaaa taacgatgaa ggatgtaaat gttgaaaatg
      361 tgaatcagca gagaggagag aagagcatct tcaaaggaaa aagcccatct aaaataatgg
      421 gaaaggaaaa cttggaagct ctgcaaagac ctacgctcct tcatctaatc catggaaagg
      481 tcaaagagtt ctactcatat caaaatgagg cagtggccat agaaaatatc aagagaggtc
      541 tggctagcct atttcagaca cagttaagct ctggaaccac caatgaggta gatatctctg
      601 gaaattgtaa agtgacctac caggctcatc aagacaaagt gatcaaaatt aaggccttgg
      661 attcatgcaa aatagcgagg tctggattta cgaccccaaa tcaggtcttg ggtgtcagtt
      721 caaaagctac atctgtcacc acctataaga tagaagacag ctttgttata gctgtgcttg
      781 ctgaagaaac acacaatttt ggactgaatt tcctacaaac cattaagggg aaaatagtat
      841 cgaagcagaa attagagctg aagacaaccg aagcaggccc aagattgatg tctggaaagc
      901 aggctgcagc cataatcaaa gcagttgatt caaagtacac ggccattccc attgtggggc
      961 aggtcttcca gagccactgt aaaggatgtc cttctctctc ggagctctgg cggtccacca
     1021 ggaaatacct gcagcctgac aacctttcca aggctgaggc tgtcagaaac ttcctggcct
     1081 tcattcagca cctcaggact gcgaagaaag aagagatcct tcaaatacta aagatggaaa
     1141 ataaggaagt attacctcag ctggtggatg ctgtcacctc tgctcagacc tcagactcat
     1201 tagaagccat tttggacttt ttggatttca aaagtgacag cagcattatc ctccaggaga
     1261 ggtttctcta tgcctgtgga tttgcttctc atcccaatga agaactcctg agagccctca
     1321 ttagtaagtt caaaggttct attggtagca gtgacatcag agaaactgtt atgatcatca
     1381 ctgggacact tgtcagaaag ttgtgtcaga atgaaggctg caaactcaaa gcagtagtgg
     1441 aagctaagaa gttaatcctg ggaggacttg aaaaagcaga gaaaaaagag gacaccagga
     1501 tgtatctgct ggctttgaag aatgccctgc ttccagaagg catcccaagt cttctgaagt
     1561 atgcagaagc aggagaaggg cccatcagcc acctggctac cactgctctc cagagatatg
     1621 atctcccttt cataactgat gaggtgaaga agaccttaaa cagaatatac caccaaaacc
     1681 gtaaagttca tgaaaagact gtgcgcactg ctgcagctgc tatcatttta aataacaatc
     1741 catcctacat ggacgtcaag aacatcctgc tgtctattgg ggagcttccc caagaaatga
     1801 ataaatacat gctcgccatt gttcaagaca tcctacgttt tgaaatgcct gcaagcaaaa
     1861 ttgtccgtcg agttctgaag gaaatggtcg ctcacaatta tgaccgtttc tccaggagtg
     1921 gatcttcttc tgcctacact ggctacatag aacgtagtcc ccgttcggca tctacttaca
     1981 gcctagacat tctctactcg ggttctggca ttctaaggag aagtaacctg aacatctttc
     2041 agtacattgg gaaggctggt cttcacggta gccaggtggt tattgaagcc caaggactgg
     2101 aagccttaat cgcagccacc cctgacgagg gggaggagaa ccttgactcc tatgctggta
     2161 tgtcagccat cctctttgat gttcagctca gacctgtcac ctttttcaac ggatacagtg
     2221 atttgatgtc caaaatgctg tcagcatctg gcgaccctat cagtgtggtg aaaggactta
     2281 ttctgctaat agatcattct caggaacttc agttacaatc tggactaaaa gccaatatag
     2341 aggtccaggg tggtctagct attgatattt caggtgcaat ggagtttagc ttgtggtatc
     2401 gtgagtctaa aacccgagtg aaaaataggg tgactgtggt aataaccact gacatcacag
     2461 tggactcctc ttttgtgaaa gctggcctgg aaaccagtac agaaacagaa gcaggcttgg
     2521 agtttatctc cacagtgcag ttttctcagt acccattctt agtttgcatg cagatggaca
     2581 aggatgaagc tccattcagg caatttgaga aaaagtacga aaggctgtcc acaggcagag
     2641 gttatgtctc tcagaaaaga aaagaaagcg tattagcagg atgtgaattc ccgctccatc
     2701 aagagaactc agagatgtgc aaagtggtgt ttgcccctca gccggatagt acttccagcg
     2761 gatggttttg aaactgacct gtgatatttt acttgaattt gtctccccga aagggacaca
     2821 atgtggcatg actaagtact tgctctctga gagcacagcg tttacatatt tacctgtatt
     2881 taagattttt gtaaaaagct acaaaaaact gcagtttgat caaatttggg tatatgcagt
     2941 atgctaccca cagcgtcatt ttgaatcatc atgtgacgct ttcaacaacg ttcttagttt
     3001 acttatacct ctctcaaatc tcatttggta cagtcagaat agttattctc taagaggaaa
     3061 ctagtgtttg ttaaaaacaa aaataaaaac aaaaccacac aaggagaacc caattttgtt
     3121 tcaacaattt ttgatcaatg tatatgaagc tcttgatagg acttccttaa gcatgacggg
     3181 aaaaccaaac acgttcccta atcaggaaaa aaaaaaaaaa aaaaagtaag acacaaacaa
     3241 accatttttt ttctcttttt ttggagttgg gggcccaggg agaagggaca agacttttaa
     3301 aagacttgtt agccaacttc aagaattaat atttatgtct ctgttattgt tagttttaag
     3361 ccttaaggta gaaggcacat agaaataaca tctcatcttt ctgctgacca ttttagtgag
     3421 gttgttccaa agacattcag gtctctacct ccagccctgc aaaaatattg gacctagcac
     3481 agaggaatca ggaaaattaa tttcagaaac tccatttgat ttttcttttg ctgtgtcttt
     3541 ttgagactgt aatatggtac actgtcctct aagggacatc ctcattttat ctcacctttt
     3601 tgggggtgag agctctagtt catttaactg tactctgcac aatagctagg atgactaaga
     3661 gaacattgct tcaagaaact ggtggatttg gatttccaaa atatgaaata aggaaaaaaa
     3721 tgtttttatt tgtatgaatt aaaagatcca tgttgaacat ttgcaaatat ttattaataa
     3781 acagatgtgg tgataaaccc aaaacaaatg acaggtcctt attttccact aaacacagac
     3841 acatgaaatg aaagtttagc tagcccacta tttgttgtaa attgaaaacg aagtgtgata
     3901 aaataaatat gtagaaatca
//
