LOCUS       NM_001318525            2163 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens trafficking protein particle complex subunit 2L
            (TRAPPC2L), transcript variant 3, mRNA.
ACCESSION   NM_001318525 XM_005256313
VERSION     NM_001318525.2
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 2163)
  AUTHORS   Abaji,M., Mignon-Ravix,C., Gorokhova,S., Cacciagli,P., Mortreux,J.,
            Molinari,F., Chabrol,B., Sigaudy,S., Villard,L. and Riccardi,F.
  TITLE     TRAPPC2L-related disorder: first homozygous protein-truncating
            variant and further delineation of the phenotype
  JOURNAL   J Med Genet 60 (10), 1021-1025 (2023)
   PUBMED   36849228
  REMARK    GeneRIF: TRAPPC2L-related disorder: first homozygous
            protein-truncating variant and further delineation of the
            phenotype.
REFERENCE   2  (bases 1 to 2163)
  AUTHORS   Al-Deri,N., Okur,V., Ahimaz,P., Milev,M., Valivullah,Z., Hagen,J.,
            Sheng,Y., Chung,W., Sacher,M. and Ganapathi,M.
  TITLE     A novel homozygous variant in TRAPPC2L results in a
            neurodevelopmental disorder and disrupts TRAPP complex function
  JOURNAL   J Med Genet 58 (9), 592-601 (2021)
   PUBMED   32843486
  REMARK    GeneRIF: A novel homozygous variant in TRAPPC2L results in a
            neurodevelopmental disorder and disrupts TRAPP complex function.
REFERENCE   3  (bases 1 to 2163)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   4  (bases 1 to 2163)
  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 2163)
  AUTHORS   Milev,M.P., Graziano,C., Karall,D., Kuper,W.F.E., Al-Deri,N.,
            Cordelli,D.M., Haack,T.B., Danhauser,K., Iuso,A., Palombo,F.,
            Pippucci,T., Prokisch,H., Saint-Dic,D., Seri,M., Stanga,D.,
            Cenacchi,G., van Gassen,K.L.I., Zschocke,J., Fauth,C., Mayr,J.A.,
            Sacher,M. and van Hasselt,P.M.
  TITLE     Bi-allelic mutations in TRAPPC2L result in a neurodevelopmental
            disorder and have an impact on RAB11 in fibroblasts
  JOURNAL   J Med Genet 55 (11), 753-764 (2018)
   PUBMED   30120216
  REMARK    GeneRIF: deleterious bi-allelic variants in TRAPPC2L are associated
            with encephalopathy and febrile illness-induced episodes of
            rhabdomyolysis and subsequent developmental arrest. While the exact
            pathophysiological route deserves further study, our results
            suggest a role for RAB11.
REFERENCE   6  (bases 1 to 2163)
  AUTHORS   Scrivens,P.J., Noueihed,B., Shahrzad,N., Hul,S., Brunet,S. and
            Sacher,M.
  TITLE     C4orf41 and TTC-15 are mammalian TRAPP components with a role at an
            early stage in ER-to-Golgi trafficking
  JOURNAL   Mol Biol Cell 22 (12), 2083-2093 (2011)
   PUBMED   21525244
REFERENCE   7  (bases 1 to 2163)
  AUTHORS   Choi,C., Davey,M., Schluter,C., Pandher,P., Fang,Y., Foster,L.J.
            and Conibear,E.
  TITLE     Organization and assembly of the TRAPPII complex
  JOURNAL   Traffic 12 (6), 715-725 (2011)
   PUBMED   21453443
REFERENCE   8  (bases 1 to 2163)
  AUTHORS   Westlake,C.J., Baye,L.M., Nachury,M.V., Wright,K.J., Ervin,K.E.,
            Phu,L., Chalouni,C., Beck,J.S., Kirkpatrick,D.S., Slusarski,D.C.,
            Sheffield,V.C., Scheller,R.H. and Jackson,P.K.
  TITLE     Primary cilia membrane assembly is initiated by Rab11 and transport
            protein particle II (TRAPPII) complex-dependent trafficking of
            Rabin8 to the centrosome
  JOURNAL   Proc Natl Acad Sci U S A 108 (7), 2759-2764 (2011)
   PUBMED   21273506
REFERENCE   9  (bases 1 to 2163)
  AUTHORS   Garcia,S.A. and Nagai,M.A.
  TITLE     Transcriptional regulation of bidirectional gene pairs by
            17-beta-estradiol in MCF-7 breast cancer cells
  JOURNAL   Braz J Med Biol Res 44 (2), 112-122 (2011)
   PUBMED   21180879
REFERENCE   10 (bases 1 to 2163)
  AUTHORS   Scrivens,P.J., Shahrzad,N., Moores,A., Morin,A., Brunet,S. and
            Sacher,M.
  TITLE     TRAPPC2L is a novel, highly conserved TRAPP-interacting protein
  JOURNAL   Traffic 10 (6), 724-736 (2009)
   PUBMED   19416478
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA209193.1, BC011369.1 and
            BC017440.1.
            
            On Jun 2, 2019 this sequence version replaced NM_001318525.1.
            
            Summary: This gene encodes a protein that interacts with the
            tethering factor trafficking protein particle (TRAPP complex).
            TRAPP complexes mediate the contact between vescicles and target
            membranes, and thus, are involved in vescicle-mediated transport of
            proteins and lipids. The encoded protein is related to the X-linked
            trafficking protein particle complex 2. A related pseudogene is
            located on the X chromosome. Alternative splicing results in
            multiple transcript variants encoding different isoforms. [provided
            by RefSeq, Jan 2016].
            
            Transcript Variant: This variant (3) uses an alternate in-frame
            splice site in the 3' coding region, compared to variant 1. It
            encodes isoform 3, which is shorter than 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 :: SRR3476690.1023367.1,
                                           SRR3476690.924577.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000696289.1/ ENSP00000512526.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-12                DA209193.1         42-53
            13-1366             BC011369.1         1-1354
            1367-2163           BC017440.1         686-1482
FEATURES             Location/Qualifiers
     source          1..2163
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q24.3"
     gene            1..2163
                     /gene="TRAPPC2L"
                     /gene_synonym="HSPC176; PERRB"
                     /note="trafficking protein particle complex subunit 2L"
                     /db_xref="GeneID:51693"
                     /db_xref="HGNC:HGNC:30887"
                     /db_xref="MIM:610970"
     exon            1..57
                     /gene="TRAPPC2L"
                     /gene_synonym="HSPC176; PERRB"
                     /inference="alignment:Splign:2.1.0"
     CDS             25..444
                     /gene="TRAPPC2L"
                     /gene_synonym="HSPC176; PERRB"
                     /note="isoform 3 is encoded by transcript variant 3;
                     hematopoietic stem/progenitor cells 176; trafficking
                     protein particle complex subunit 2-like protein;
                     trafficking protein particle complex 2 like"
                     /codon_start=1
                     /product="trafficking protein particle complex subunit
                     2-like protein isoform 3"
                     /protein_id="NP_001305454.1"
                     /db_xref="CCDS:CCDS92207.1"
                     /db_xref="GeneID:51693"
                     /db_xref="HGNC:HGNC:30887"
                     /db_xref="MIM:610970"
                     /translation="MAVCIAVIAKENYPLYIRSTPTENELKFHYMVHTSLDVVDEKIS
                     AMGKALVDQRELYLGLLYPTEDYKVYGYVTNSKVKFVMVVDSSNTALRDNEIRSMFRK
                     LHNSYTDVMCNPFYNPGDRIQSRAFDNMVTSMMIQVC"
     exon            58..230
                     /gene="TRAPPC2L"
                     /gene_synonym="HSPC176; PERRB"
                     /inference="alignment:Splign:2.1.0"
     exon            231..318
                     /gene="TRAPPC2L"
                     /gene_synonym="HSPC176; PERRB"
                     /inference="alignment:Splign:2.1.0"
     exon            319..398
                     /gene="TRAPPC2L"
                     /gene_synonym="HSPC176; PERRB"
                     /inference="alignment:Splign:2.1.0"
     exon            399..2163
                     /gene="TRAPPC2L"
                     /gene_synonym="HSPC176; PERRB"
                     /inference="alignment:Splign:2.1.0"
     regulatory      577..582
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TRAPPC2L"
                     /gene_synonym="HSPC176; PERRB"
                     /note="hexamer: ACTAAA"
     polyA_site      597
                     /gene="TRAPPC2L"
                     /gene_synonym="HSPC176; PERRB"
                     /note="major polyA site"
     regulatory      2138..2143
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TRAPPC2L"
                     /gene_synonym="HSPC176; PERRB"
                     /note="hexamer: AATAAA"
     polyA_site      2163
                     /gene="TRAPPC2L"
                     /gene_synonym="HSPC176; PERRB"
ORIGIN      
        1 gtgcctggcg ccgagcctcc caagatggcg gtgtgcatcg cggtgattgc caaggagaat
       61 taccccctct acattcgcag cacccctacg gagaacgagc tgaagttcca ctacatggtg
      121 cacacatctc tggacgtggt ggatgagaag atctccgcaa tggggaaggc cctggtcgac
      181 cagagggagc tgtacctggg cctgctctac cccacggagg actacaaggt atacggctac
      241 gtcaccaact ccaaggtgaa gtttgtcatg gtggtagatt cctccaacac agcccttcga
      301 gacaacgaaa ttcgcagcat gttccggaag ctacacaact cctacacaga cgtgatgtgc
      361 aaccccttct acaacccggg ggaccgcatc cagtccaggg cctttgataa catggtgacg
      421 tcgatgatga tacaggtgtg ctgagtgagc tgtgctgcca gccatcgcag aggagcccgc
      481 gcacgactgt ggtggggccg tcggtctgtt ctggttgcct cttcctgaat gggacgcctg
      541 gggctttcag ggcaggcagc tgtgcatgtt ctctcaacta aaggtcttgt gagaggagat
      601 ttggcttttt ccttccgtgt cagccaagga tttaattaag aagaattcaa ctaaggactt
      661 ttctggggtg tgggcagagg tttgggatca gatggcgcag gtagcctgtc ctcagttgtc
      721 ccaaaggggc agaggcaggg gtgcctggag ccaagagttc ctgagcctgc aggacctgtg
      781 accatgtggg tcacccactg gctgaacagg tgggctggtc tggagggggt ggcctcctga
      841 gcccagaacc agcctaggat ctaggggcac aaggggagcc ggcgtggctt cccacagggg
      901 agggccctcc tctttctgga cttggcctcc attctttgca tctggctcaa tgtctggatt
      961 ccgcccggcc ttaaaaggag cccttgtgaa acctgggaag cctcgtggcc ccgcggcgtt
     1021 ggctcagctg cagccctggt cctaaacctt ggagcgcaga cttgaggcac cccctcctgc
     1081 ctgttggtgc tgagggggtt gggtgctgtg tcacttgatg acgtggctga ctaccaccca
     1141 gggcagcggc cgagcccata gtggcgtcag tgccgccggc gtccttgggg tccagcggtc
     1201 aaggctcagc ccgctgaggg gacccccccg gagttggttc cagcactggt ccaggactgg
     1261 agagtttctc aaggaccttg aggaccccag aagcccttgc agcaggaaag gctgtaaggg
     1321 ggggtcagcc tagggcagga cctagggagg ggaactttct tgatacatat ttgccttttc
     1381 atcccatcta gcaagcacag tgttaatttt agaaattata gaagaaaaaa tcagcaagga
     1441 gtgtgggaaa actgcatgcc ccaggcctcc cccgccccag ggtgaattgg aagccctgga
     1501 atgggccgag gcacaccagg cagctgatct gggtgcatgt gggccacaga ccactctcac
     1561 aaggttaaat ctttaacaag agcctcatgt ttgttaggag aaggtgggac cccagcccaa
     1621 gcacttcccc attgcagcct ggcatgaaat ctttgccttt tagtggggat cactcctgcc
     1681 cgagtcctgg ctgtggtggg gactctgcaa gttgctaacc cagcgtccat tctctttcct
     1741 ccgtactaac agaaccccgg tgcctctgcc cagttccaat agcgggcaga cgagagccat
     1801 gtcctgggct cccttgcagc ccggggtgtg cagctgtggc gtggaggtgg gtggtgctgg
     1861 gagagacttg cagggaagct cctgtgaagg ggactcagct gccacatgca ggacccttcc
     1921 cctttgcctt cttcctgcct ggaacatgga tgtgatggct ggtgctggga cagctgtcct
     1981 gagagcgtga ggaaagggtc acaccctaag gacagtggag cagaacacag gaaggaccct
     2041 gggcctttgc tgacgcagaa cgcgggaagg accctgggcc tttgctgaca taccagcccc
     2101 agactactta aattcagctt tttttttaat gtgagaaaat aaatgcaccc ctctctggtt
     2161 taa
//
