LOCUS       NM_006070               1907 bp    mRNA    linear   PRI 04-OCT-2024
DEFINITION  Homo sapiens trafficking from ER to golgi regulator (TFG),
            transcript variant 1, mRNA.
ACCESSION   NM_006070
VERSION     NM_006070.6
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 1907)
  AUTHORS   Hsiao,C.T., Tsai,T.Y., Shen,T.Y., Tsai,Y.S., Liao,Y.C., Lee,Y.C.
            and Tsai,P.C.
  TITLE     Characterization of a novel TFG variant causing autosomal recessive
            pure hereditary spastic paraplegia
  JOURNAL   Ann Clin Transl Neurol 11 (7), 1909-1920 (2024)
   PUBMED   38837630
  REMARK    GeneRIF: Characterization of a novel TFG variant causing autosomal
            recessive pure hereditary spastic paraplegia.
REFERENCE   2  (bases 1 to 1907)
  AUTHORS   Cabras,S., Di Pede,F., Canosa,A., Grassano,M., Mongini,T.E.,
            Gadaleta,G., Calvo,A., Chio,A., Moglia,C. and Gallone,S.
  TITLE     Hereditary motor sensory neuropathy with proximal involvement
            (HMSN-P) associated with TFG p.Pro285Leu variant in an Italian
            family with a motor neuron disease-like clinical picture
  JOURNAL   Muscle Nerve 69 (6), 730-732 (2024)
   PUBMED   38533668
  REMARK    GeneRIF: Hereditary motor sensory neuropathy with proximal
            involvement (HMSN-P) associated with TFG p.Pro285Leu variant in an
            Italian family with a motor neuron disease-like clinical picture.
REFERENCE   3  (bases 1 to 1907)
  AUTHORS   Xu,L., Wang,Y., Wang,W., Zhang,R., Zhao,D., Yun,Y., Liu,F.,
            Zhao,Y., Yan,C. and Lin,P.
  TITLE     Novel TFG mutation causes autosomal-dominant spastic paraplegia and
            defects in autophagy
  JOURNAL   J Med Genet 61 (4), 325-331 (2024)
   PUBMED   37890998
  REMARK    GeneRIF: Novel TFG mutation causes autosomal-dominant spastic
            paraplegia and defects in autophagy.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1907)
  AUTHORS   Michal,M., Ud Din,N., Svajdler,M., Klubickova,N., Ptakova,N.,
            Hajkova,V., Michal,M. and Agaimy,A.
  TITLE     TFG::MET-rearranged soft tissue tumor: A rare infantile neoplasm
            with a distinct low-grade triphasic morphology
  JOURNAL   Genes Chromosomes Cancer 62 (5), 290-296 (2023)
   PUBMED   36464850
  REMARK    GeneRIF: TFG::MET-rearranged soft tissue tumor: A rare infantile
            neoplasm with a distinct low-grade triphasic morphology.
REFERENCE   5  (bases 1 to 1907)
  AUTHORS   Chevalier,B., Baatallah,N., Najm,M., Castanier,S., Jung,V.,
            Pranke,I., Golec,A., Stoven,V., Marullo,S., Antigny,F.,
            Guerrera,I.C., Sermet-Gaudelus,I., Edelman,A. and Hinzpeter,A.
  TITLE     Differential CFTR-Interactome Proximity Labeling Procedures
            Identify Enrichment in Multiple SLC Transporters
  JOURNAL   Int J Mol Sci 23 (16), 8937 (2022)
   PUBMED   36012204
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1907)
  AUTHORS   Hernandez,L., Bea,S., Bellosillo,B., Pinyol,M., Falini,B.,
            Carbone,A., Ott,G., Rosenwald,A., Fernandez,A., Pulford,K.,
            Mason,D., Morris,S.W., Santos,E. and Campo,E.
  TITLE     Diversity of genomic breakpoints in TFG-ALK translocations in
            anaplastic large cell lymphomas: identification of a new
            TFG-ALK(XL) chimeric gene with transforming activity
  JOURNAL   Am J Pathol 160 (4), 1487-1494 (2002)
   PUBMED   11943732
REFERENCE   7  (bases 1 to 1907)
  AUTHORS   Hernandez,L., Pinyol,M., Hernandez,S., Bea,S., Pulford,K.,
            Rosenwald,A., Lamant,L., Falini,B., Ott,G., Mason,D.Y., Delsol,G.
            and Campo,E.
  TITLE     TRK-fused gene (TFG) is a new partner of ALK in anaplastic large
            cell lymphoma producing two structurally different TFG-ALK
            translocations
  JOURNAL   Blood 94 (9), 3265-3268 (1999)
   PUBMED   10556217
REFERENCE   8  (bases 1 to 1907)
  AUTHORS   Mencinger,M., Panagopoulos,I., Andreasson,P., Lassen,C.,
            Mitelman,F. and Aman,P.
  TITLE     Characterization and chromosomal mapping of the human TFG gene
            involved in thyroid carcinoma
  JOURNAL   Genomics 41 (3), 327-331 (1997)
   PUBMED   9169129
REFERENCE   9  (bases 1 to 1907)
  AUTHORS   Greco,A., Mariani,C., Miranda,C., Lupas,A., Pagliardini,S.,
            Pomati,M. and Pierotti,M.A.
  TITLE     The DNA rearrangement that generates the TRK-T3 oncogene involves a
            novel gene on chromosome 3 whose product has a potential
            coiled-coil domain
  JOURNAL   Mol Cell Biol 15 (11), 6118-6127 (1995)
   PUBMED   7565764
REFERENCE   10 (bases 1 to 1907)
  AUTHORS   Hedera,P.
  TITLE     Hereditary Spastic Paraplegia Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301682
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK093456.1 and BC009241.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_006070.5.
            
            Summary: There are several documented fusion oncoproteins encoded
            partially by this gene. This gene also participates in several
            oncogenic rearrangements resulting in anaplastic lymphoma and
            mixoid chondrosarcoma, and may play a role in the NF-kappaB
            pathway. Multiple transcript variants have been found for this
            gene. [provided by RefSeq, Sep 2010].
            
            Transcript Variant: This variant (1) represents the longest
            transcript, Variants 1, 2, and 3 encode the same protein (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 :: BC009241.2, SRR3476690.990229.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000240851.9/ ENSP00000240851.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-84                AK093456.1         70-153
            85-1907             BC009241.2         127-1949
FEATURES             Location/Qualifiers
     source          1..1907
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q12.2"
     gene            1..1907
                     /gene="TFG"
                     /gene_synonym="HMSNP; SPG57; TF6; TRKT3"
                     /note="trafficking from ER to golgi regulator"
                     /db_xref="GeneID:10342"
                     /db_xref="HGNC:HGNC:11758"
                     /db_xref="MIM:602498"
     exon            1..228
                     /gene="TFG"
                     /gene_synonym="HMSNP; SPG57; TF6; TRKT3"
                     /inference="alignment:Splign:2.1.0"
     exon            229..455
                     /gene="TFG"
                     /gene_synonym="HMSNP; SPG57; TF6; TRKT3"
                     /inference="alignment:Splign:2.1.0"
     CDS             272..1474
                     /gene="TFG"
                     /gene_synonym="HMSNP; SPG57; TF6; TRKT3"
                     /note="isoform 1 is encoded by transcript variant 1; TRKT3
                     oncogene; protein TFG; TRK-fused gene protein"
                     /codon_start=1
                     /product="protein TFG isoform 1"
                     /protein_id="NP_006061.2"
                     /db_xref="CCDS:CCDS2939.1"
                     /db_xref="GeneID:10342"
                     /db_xref="HGNC:HGNC:11758"
                     /db_xref="MIM:602498"
                     /translation="MNGQLDLSGKLIIKAQLGEDIRRIPIHNEDITYDELVLMMQRVF
                     RGKLLSNDEVTIKYKDEDGDLITIFDSSDLSFAIQCSRILKLTLFVNGQPRPLESSQV
                     KYLRRELIELRNKVNRLLDSLEPPGEPGPSTNIPENDTVDGREEKSASDSSGKQSTQV
                     MAASMSAFDPLKNQDEINKNVMSAFGLTDDQVSGPPSAPAEDRSGTPDSIASSSSAAH
                     PPGVQPQQPPYTGAQTQAGQIEGQMYQQYQQQAGYGAQQPQAPPQQPQQYGIQYSASY
                     SQQTGPQQPQQFQGYGQQPTSQAPAPAFSGQPQQLPAQPPQQYQASNYPAQTYTAQTS
                     QPTNYTVAPASQPGMAPSQPGAYQPRPGFTSLPGSTMTPPPSGPNPYARNRPPFGQGY
                     TQPGPGYR"
     exon            456..539
                     /gene="TFG"
                     /gene_synonym="HMSNP; SPG57; TF6; TRKT3"
                     /inference="alignment:Splign:2.1.0"
     exon            540..686
                     /gene="TFG"
                     /gene_synonym="HMSNP; SPG57; TF6; TRKT3"
                     /inference="alignment:Splign:2.1.0"
     exon            687..851
                     /gene="TFG"
                     /gene_synonym="HMSNP; SPG57; TF6; TRKT3"
                     /inference="alignment:Splign:2.1.0"
     exon            852..992
                     /gene="TFG"
                     /gene_synonym="HMSNP; SPG57; TF6; TRKT3"
                     /inference="alignment:Splign:2.1.0"
     exon            993..1091
                     /gene="TFG"
                     /gene_synonym="HMSNP; SPG57; TF6; TRKT3"
                     /inference="alignment:Splign:2.1.0"
     exon            1092..1907
                     /gene="TFG"
                     /gene_synonym="HMSNP; SPG57; TF6; TRKT3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1888..1893
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TFG"
                     /gene_synonym="HMSNP; SPG57; TF6; TRKT3"
                     /note="hexamer: AATAAA"
     polyA_site      1907
                     /gene="TFG"
                     /gene_synonym="HMSNP; SPG57; TF6; TRKT3"
                     /note="major polyA site"
ORIGIN      
        1 gttcttcccc cacctgccac gtacagagcc caagttctcg ctaggcttgt tgggtcagcg
       61 cgattggccg gggcccgcgc gagcctgcga gcgaggtgcg gcggtcgcga agggcaaccg
      121 agggggccgt gaccaccgcc tccccgcgac gccccagtcc agtggcctcg cgtccgccca
      181 ttcagcggag acctgcggag aggcggcggc cgcggcctcc gcaagccgtc tttctctaga
      241 gttgtatata tagaacatcc tggagtccac catgaacgga cagttggatc taagtgggaa
      301 gctaatcatc aaagctcaac ttggggagga tattcggcga attcctattc ataatgaaga
      361 tattacttat gatgaattag tgctaatgat gcaacgagtt ttcagaggaa aacttctgag
      421 taatgatgaa gtaacaataa agtataaaga tgaagatgga gatcttataa caatttttga
      481 tagttctgac ctttcctttg caattcagtg cagtaggata ctgaaactga cattatttgt
      541 taatggccag ccaagacccc ttgaatcaag tcaggtgaaa tatctccgtc gagaactgat
      601 agaacttcga aataaagtga atcgtttatt ggatagcttg gaaccacctg gagaaccagg
      661 accttccacc aatattcctg aaaatgatac tgtggatggt agggaagaaa agtctgcttc
      721 tgattcttct ggaaaacagt ctactcaggt tatggcagca agtatgtctg cttttgatcc
      781 tttaaaaaac caagatgaaa tcaataaaaa tgttatgtca gcgtttggct taacagatga
      841 tcaggtttca gggccaccca gtgctcctgc agaagatcgt tcaggaacac ccgacagcat
      901 tgcttcctcc tcctcagcag ctcacccacc aggcgttcag ccacagcagc caccatatac
      961 aggagctcag actcaagcag gtcagattga aggtcagatg taccaacagt accagcaaca
     1021 ggccggctat ggtgcacagc agccgcaggc tccacctcag cagcctcaac agtatggtat
     1081 tcagtattca gcaagctata gtcagcagac tggacctcaa caacctcagc agttccaggg
     1141 atatggccag caaccaactt cccaggcacc agctcctgcc ttttctggtc agcctcaaca
     1201 actgcctgct cagccgccac agcagtacca ggcgagcaat tatcctgcac aaacttacac
     1261 tgcccaaact tctcagccta ctaattatac tgtggctcct gcctctcaac ctggaatggc
     1321 tccaagccaa cctggggcct atcaaccaag accaggtttt acttcacttc ctggaagtac
     1381 catgacccct cctccaagtg ggcctaatcc ttatgcgcgt aaccgtcctc cctttggtca
     1441 gggctatacc caacctggac ctggttatcg ataaggaggc tcctctacac caattaatgt
     1501 agctgctagc tattggcctc ccaaaagact ccagtactat tttaatttgt attgaagaag
     1561 ttcagaaatt taaaagcaga gcatttttta tgatatcatt gttggtgtta attgaaagta
     1621 taatttgctg gaacacaaag accaaaatga aagttttttc ctccctgctt aaaaatgtag
     1681 cagcttctta gttactttgg aacactactc ttacatgtat aaagtgattg acttgacttt
     1741 ctagcttccc ttgtccggag gatattaaaa tgctagggtg aggtttagcc atcttacttg
     1801 gctttttact attaacatga tgtactaaag tagagccctt tgagaataca agatattatg
     1861 tataaaatgt aacactgatg ataggttaat aaagatgatt gaatcca
//
