LOCUS       NM_000370               2633 bp    mRNA    linear   PRI 06-OCT-2024
DEFINITION  Homo sapiens alpha tocopherol transfer protein (TTPA), transcript
            variant 1, mRNA.
ACCESSION   NM_000370 XM_001128514
VERSION     NM_000370.3
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 2633)
  AUTHORS   Jeridi,C., Rachdi,A., Nabli,F., Saied,Z., Zouari,R., Ben
            Mohamed,D., Ben Said,M., Masmoudi,S., Ben Sassi,S. and Amouri,R.
  TITLE     Genetic heterogeneity within a consanguineous family involving TTPA
            and SETX genes
  JOURNAL   J Neurogenet 37 (4), 124-130 (2023)
   PUBMED   38109176
  REMARK    GeneRIF: Genetic heterogeneity within a consanguineous family
            involving TTPA and SETX genes.
REFERENCE   2  (bases 1 to 2633)
  AUTHORS   Ulatowski,L., Ghelfi,M., West,R., Atkinson,J., Finno,C.J. and
            Manor,D.
  TITLE     The tocopherol transfer protein mediates vitamin E trafficking
            between cerebellar astrocytes and neurons
  JOURNAL   J Biol Chem 298 (3), 101712 (2022)
   PUBMED   35150738
  REMARK    GeneRIF: The tocopherol transfer protein mediates vitamin E
            trafficking between cerebellar astrocytes and neurons.
REFERENCE   3  (bases 1 to 2633)
  AUTHORS   Arai,H. and Kono,N.
  TITLE     alpha-Tocopherol transfer protein (alpha-TTP)
  JOURNAL   Free Radic Biol Med 176, 162-175 (2021)
   PUBMED   34563650
  REMARK    GeneRIF: alpha-Tocopherol transfer protein (alpha-TTP).
            Review article
REFERENCE   4  (bases 1 to 2633)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   5  (bases 1 to 2633)
  AUTHORS   Gotoda,T., Arita,M., Arai,H., Inoue,K., Yokota,T., Fukuo,Y.,
            Yazaki,Y. and Yamada,N.
  TITLE     Adult-onset spinocerebellar dysfunction caused by a mutation in the
            gene for the alpha-tocopherol-transfer protein
  JOURNAL   N Engl J Med 333 (20), 1313-1318 (1995)
   PUBMED   7566022
REFERENCE   6  (bases 1 to 2633)
  AUTHORS   Arita,M., Sato,Y., Miyata,A., Tanabe,T., Takahashi,E., Kayden,H.J.,
            Arai,H. and Inoue,K.
  TITLE     Human alpha-tocopherol transfer protein: cDNA cloning, expression
            and chromosomal localization
  JOURNAL   Biochem J 306 (Pt 2) (Pt 2), 437-443 (1995)
   PUBMED   7887897
REFERENCE   7  (bases 1 to 2633)
  AUTHORS   Ouahchi,K., Arita,M., Kayden,H., Hentati,F., Ben Hamida,M.,
            Sokol,R., Arai,H., Inoue,K., Mandel,J.L. and Koenig,M.
  TITLE     Ataxia with isolated vitamin E deficiency is caused by mutations in
            the alpha-tocopherol transfer protein
  JOURNAL   Nat Genet 9 (2), 141-145 (1995)
   PUBMED   7719340
REFERENCE   8  (bases 1 to 2633)
  AUTHORS   Ben Hamida,C., Doerflinger,N., Belal,S., Linder,C., Reutenauer,L.,
            Dib,C., Gyapay,G., Vignal,A., Le Paslier,D., Cohen,D. et al.
  TITLE     Localization of Friedreich ataxia phenotype with selective vitamin
            E deficiency to chromosome 8q by homozygosity mapping
  JOURNAL   Nat Genet 5 (2), 195-200 (1993)
   PUBMED   8252047
REFERENCE   9  (bases 1 to 2633)
  AUTHORS   Schuelke,M.
  TITLE     Ataxia with Vitamin E Deficiency
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301419
REFERENCE   10 (bases 1 to 2633)
  AUTHORS   Perlman,S.
  TITLE     Hereditary Ataxia Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301317
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC058000.1, BC041784.1 and
            AC120042.3.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 4, 2009 this sequence version replaced NM_000370.2.
            
            Summary: This gene encodes a soluble protein that binds
            alpha-trocopherol, a form of vitamin E, with high selectivity and
            affinity. This protein plays an important role in regulating
            vitamin E levels in the body by transporting vitamin E between
            membrane vesicles and facilitating the secretion of vitamin E from
            hepatocytes to circulating lipoproteins. Mutations in this gene
            cause hereditary vitamin E deficiency (ataxia with vitamin E
            deficiency, AVED) and retinitis pigmentosa. [provided by RefSeq,
            Nov 2009].
            
            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 :: SRR1660803.123094.1, BC041784.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN04284274 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000260116.5/ ENSP00000260116.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-14                BC058000.1         5-18
            15-1452             BC041784.1         1-1438
            1453-2633           AC120042.3         122205-123385       c
FEATURES             Location/Qualifiers
     source          1..2633
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q12.3"
     gene            1..2633
                     /gene="TTPA"
                     /gene_synonym="alphaTTP; ATTP; AVED; TTP1"
                     /note="alpha tocopherol transfer protein"
                     /db_xref="GeneID:7274"
                     /db_xref="HGNC:HGNC:12404"
                     /db_xref="MIM:600415"
     exon            1..236
                     /gene="TTPA"
                     /gene_synonym="alphaTTP; ATTP; AVED; TTP1"
                     /inference="alignment:Splign:2.1.0"
     CDS             33..869
                     /gene="TTPA"
                     /gene_synonym="alphaTTP; ATTP; AVED; TTP1"
                     /note="isoform 1 is encoded by transcript variant 1;
                     tocopherol (alpha) transfer protein (ataxia
                     (Friedreich-like) with vitamin E deficiency); alpha-TTP"
                     /codon_start=1
                     /product="alpha-tocopherol transfer protein isoform 1"
                     /protein_id="NP_000361.1"
                     /db_xref="CCDS:CCDS6178.1"
                     /db_xref="GeneID:7274"
                     /db_xref="HGNC:HGNC:12404"
                     /db_xref="MIM:600415"
                     /translation="MAEARSQPSAGPQLNALPDHSPLLQPGLAALRRRAREAGVPLAP
                     LPLTDSFLLRFLRARDFDLDLAWRLLKNYYKWRAECPEISADLHPRSIIGLLKAGYHG
                     VLRSRDPTGSKVLIYRIAHWDPKVFTAYDVFRVSLITSELIVQEVETQRNGIKAIFDL
                     EGWQFSHAFQITPSVAKKIAAVLTDSFPLKVRGIHLINEPVIFHAVFSMIKPFLTEKI
                     KERIHMHGNNYKQSLLQHFPDILPLEYGGEEFSMEDICQEWTNFIMKSEDYLSSISES
                     IQ"
     exon            237..390
                     /gene="TTPA"
                     /gene_synonym="alphaTTP; ATTP; AVED; TTP1"
                     /inference="alignment:Splign:2.1.0"
     exon            391..584
                     /gene="TTPA"
                     /gene_synonym="alphaTTP; ATTP; AVED; TTP1"
                     /inference="alignment:Splign:2.1.0"
     exon            585..695
                     /gene="TTPA"
                     /gene_synonym="alphaTTP; ATTP; AVED; TTP1"
                     /inference="alignment:Splign:2.1.0"
     exon            696..2633
                     /gene="TTPA"
                     /gene_synonym="alphaTTP; ATTP; AVED; TTP1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1320..1325
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TTPA"
                     /gene_synonym="alphaTTP; ATTP; AVED; TTP1"
                     /note="hexamer: ATTATA"
     polyA_site      1342
                     /gene="TTPA"
                     /gene_synonym="alphaTTP; ATTP; AVED; TTP1"
                     /note="major polyA site"
     regulatory      2337..2342
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TTPA"
                     /gene_synonym="alphaTTP; ATTP; AVED; TTP1"
                     /note="hexamer: AATAAA"
     regulatory      2345..2350
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TTPA"
                     /gene_synonym="alphaTTP; ATTP; AVED; TTP1"
                     /note="hexamer: AATAAA"
     polyA_site      2355
                     /gene="TTPA"
                     /gene_synonym="alphaTTP; ATTP; AVED; TTP1"
     polyA_site      2367
                     /gene="TTPA"
                     /gene_synonym="alphaTTP; ATTP; AVED; TTP1"
ORIGIN      
        1 gggtagctgc ggccgcagca gcggcggcgg gcatggcaga ggcgcgatcc cagccctcgg
       61 cggggccgca gctcaacgcg ctaccggacc actctccgtt gctgcagccg ggcctggcgg
      121 cgctgcggcg ccgggcccgg gaagctggcg tcccgctcgc gccgctgccg ctcaccgact
      181 ccttcctgct gcggttcctg cgcgcccggg atttcgatct ggacctggcc tggcggttac
      241 taaaaaacta ttataagtgg agagcagaat gtccagaaat aagtgcagat ctacacccta
      301 gaagtattat tggcctccta aaggctggct accatggagt cctgagatcc agggatccca
      361 ctggcagcaa agttcttatt tacagaatcg cacactggga ccccaaagtt tttacagctt
      421 atgacgtatt tcgagtaagt ctaatcacat ccgagcttat tgtacaggag gtagaaactc
      481 agcggaatgg aatcaaggct atctttgatc tggaaggttg gcagttttct catgcttttc
      541 aaatcactcc atccgtagcc aagaagattg ctgctgtact tacggattca tttccattga
      601 aagttcgtgg catccatttg ataaatgaac cagtaatttt ccatgctgtc ttttccatga
      661 tcaaaccatt cctgactgaa aaaattaagg aacggattca catgcatggg aacaactaca
      721 aacaaagctt gcttcagcat ttcccagaca ttcttcctct ggaatatggt ggtgaagaat
      781 tctccatgga ggacatttgt caggaatgga caaattttat aatgaagtct gaagattatc
      841 tcagcagcat ttctgagagc attcaatgag aagttatgtc atgtgaatgg cttcctaact
      901 aaaaatacat gagtgatatc caacctggtt aaatgaatga aagaaaagga gcaaatcttt
      961 taaactaatg cttgcctgaa ctttaaaaat gtagaaatct tctgacatga gcaacacagg
     1021 tgtttggaaa gattttttac tttttaaatg cttttttctc tacttttgaa gtaattaaat
     1081 gtcagtacat tttaagagca taaaaatcgg cgattttgta cttgaagaga acatgaaagt
     1141 tattgctaaa gtagctgctc atgtgcatct ttgtatgttt ctagaaagtt atattttaaa
     1201 caagttctct gattaaattg gtttagaaaa aaatttagaa atattccgct taaaaatact
     1261 agcacaagtc agctaatgat aaaaaaatta acacttgttt taagtggatg tcagattaaa
     1321 ttataattca ttataattaa aatctgaata gagttttatg gttattcctg tggaccagca
     1381 agacatttca tctcagggaa attttatttt agtatattaa cacgatagaa actttttttt
     1441 tttttttcag acagagtctt gctctgtcgc ccaggctaga gtgcagtagt gagatctcag
     1501 ctcactgcaa cctctgctag gattacatgt gcacaccacc actcctggct aagttttgta
     1561 ttttatatag agatggggtt ttgccacgtt ggccaagctg gtctcaaact cctgaactca
     1621 agtaatttgc ctgcttcggc ctcccagagt cctgggatta cagtcgtgag ccatcgcgcc
     1681 tggccgtgat agaaactttc agctgaggag tctatatgcc atactactct atgtggcatc
     1741 tttaggtctc tgtgaaatca tgttgatgta attgattaac aaaaataatt tagaaaatac
     1801 gtcaggcaca gttgatggct tctcaatatc tgctttgcat ttttaaacaa atcaagaatg
     1861 taattttaac ttttgcttat ggtcattctt atgactacac ggaaagggat ggaatcatac
     1921 ttacttgtct tatacatgga ctgtttttag ttaacaataa cgtaactaca caaaggaaag
     1981 gaaatgttta cattttaaaa aattactgtc aattacatct ggtatttttc agattatgca
     2041 taaaataata tgagtttgac tattgtatca gaatatttta atcaaatcct gcaatttata
     2101 ttaacttaaa aaaacatctg gtaaagactg ggtgtggcag ctcacacctg taatcccagc
     2161 actttgggag gccgaggctg gatggatgat tgcttgagcg caggagttct agaccagcct
     2221 gggcaataca gggagaccct gtctctattt caaaaataaa taaataggcc ccggtgtgtg
     2281 atgttcccct tcctgtgtcc atgtgttctc aaaaaaaatt aaaaaataaa aataaaaata
     2341 aataaataaa taaccggtaa agatgtactg tttctactgc agtttataat atttcattta
     2401 ttaagaaaga tatcatctca gctttcaaat tcaacatagc cctcaattta tgacataagt
     2461 tttatactta gtattttata atttcttaat tttgttataa acttgaaaat gtagaatatg
     2521 gggtccaaaa tctgttgaac atttgttcag ctagttaggt ttcaacatta atcatataca
     2581 ttaatagtat ctttatgtaa ggatatgtga agggtgtttt tctttataag aaa
//
