LOCUS       NM_001318528            2143 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens trafficking protein particle complex subunit 2L
            (TRAPPC2L), transcript variant 6, mRNA.
ACCESSION   NM_001318528
VERSION     NM_001318528.2
KEYWORDS    RefSeq.
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 2143)
  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 2143)
  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 2143)
  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 2143)
  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 2143)
  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 2143)
  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 2143)
  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 2143)
  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 2143)
  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 2143)
  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 DA295904.1, AK310805.1,
            BC011369.1 and BC017440.1.
            
            On Jun 2, 2019 this sequence version replaced NM_001318528.1.
            
            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 (6) differs in the 5' UTR, lacks a
            portion of the 5' coding region, uses a downstream start codon and
            uses an alternate in-frame splice site in the 3' coding region,
            compared to variant 1. It encodes isoform 6, 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 :: SRR1660809.131887.1,
                                           SRR1660809.256067.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-331               DA295904.1         1-331
            332-332             AK310805.1         667-667
            333-565             DA295904.1         333-565
            566-1346            BC011369.1         574-1354
            1347-2143           BC017440.1         686-1482
FEATURES             Location/Qualifiers
     source          1..2143
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q24.3"
     gene            1..2143
                     /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"
     exon            58..207
                     /gene="TRAPPC2L"
                     /gene_synonym="HSPC176; PERRB"
                     /inference="alignment:Splign:2.1.0"
     CDS             92..424
                     /gene="TRAPPC2L"
                     /gene_synonym="HSPC176; PERRB"
                     /note="isoform 6 is encoded by transcript variant 6;
                     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 6"
                     /protein_id="NP_001305457.1"
                     /db_xref="GeneID:51693"
                     /db_xref="HGNC:HGNC:30887"
                     /db_xref="MIM:610970"
                     /translation="MVHTSLDVVDEKISAMGKALVDQRELYLGLLYPTEDYKVYGYVT
                     NSKVKFVMVVDSSNTALRDNEIRSMFRKLHNSYTDVMCNPFYNPGDRIQSSRAFDNMV
                     TSMMIQVC"
     exon            208..295
                     /gene="TRAPPC2L"
                     /gene_synonym="HSPC176; PERRB"
                     /inference="alignment:Splign:2.1.0"
     exon            296..375
                     /gene="TRAPPC2L"
                     /gene_synonym="HSPC176; PERRB"
                     /inference="alignment:Splign:2.1.0"
     exon            376..2143
                     /gene="TRAPPC2L"
                     /gene_synonym="HSPC176; PERRB"
                     /inference="alignment:Splign:2.1.0"
     regulatory      557..562
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TRAPPC2L"
                     /gene_synonym="HSPC176; PERRB"
                     /note="hexamer: ACTAAA"
     polyA_site      577
                     /gene="TRAPPC2L"
                     /gene_synonym="HSPC176; PERRB"
                     /note="major polyA site"
     regulatory      2118..2123
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TRAPPC2L"
                     /gene_synonym="HSPC176; PERRB"
                     /note="hexamer: AATAAA"
     polyA_site      2143
                     /gene="TRAPPC2L"
                     /gene_synonym="HSPC176; PERRB"
ORIGIN      
        1 gtgcctggcg ccgagcctcc caagatggcg gtgtgcatcg cggtgattgc caaggagcac
       61 ccctacggag aacgagctga agttccacta catggtgcac acatctctgg acgtggtgga
      121 tgagaagatc tccgcaatgg ggaaggccct ggtcgaccag agggagctgt acctgggcct
      181 gctctacccc acggaggact acaaggtata cggctacgtc accaactcca aggtgaagtt
      241 tgtcatggtg gtagattcct ccaacacagc ccttcgagac aacgaaattc gcagcatgtt
      301 ccggaagcta cacaactcct acacagacgt gatgtgcaac cccttctaca acccggggga
      361 ccgcatccag tccagcaggg cctttgataa catggtgacg tcgatgatga tacaggtgtg
      421 ctgagtgagc tgtgctgcca gccatcgcag aggagcccgc gcacgactgt ggtggggccg
      481 tcggtctgtt ctggttgcct cttcctgaat gggacgcctg gggctttcag ggcaggcagc
      541 tgtgcatgtt ctctcaacta aaggtcttgt gagaggagat ttggcttttt ccttccgtgt
      601 cagccaagga tttaattaag aagaattcaa ctaaggactt ttctggggtg tgggcagagg
      661 tttgggatca gatggcgcag gtagcctgtc ctcagttgtc ccaaaggggc agaggcaggg
      721 gtgcctggag ccaagagttc ctgagcctgc aggacctgtg accatgtggg tcacccactg
      781 gctgaacagg tgggctggtc tggagggggt ggcctcctga gcccagaacc agcctaggat
      841 ctaggggcac aaggggagcc ggcgtggctt cccacagggg agggccctcc tctttctgga
      901 cttggcctcc attctttgca tctggctcaa tgtctggatt ccgcccggcc ttaaaaggag
      961 cccttgtgaa acctgggaag cctcgtggcc ccgcggcgtt ggctcagctg cagccctggt
     1021 cctaaacctt ggagcgcaga cttgaggcac cccctcctgc ctgttggtgc tgagggggtt
     1081 gggtgctgtg tcacttgatg acgtggctga ctaccaccca gggcagcggc cgagcccata
     1141 gtggcgtcag tgccgccggc gtccttgggg tccagcggtc aaggctcagc ccgctgaggg
     1201 gacccccccg gagttggttc cagcactggt ccaggactgg agagtttctc aaggaccttg
     1261 aggaccccag aagcccttgc agcaggaaag gctgtaaggg ggggtcagcc tagggcagga
     1321 cctagggagg ggaactttct tgatacatat ttgccttttc atcccatcta gcaagcacag
     1381 tgttaatttt agaaattata gaagaaaaaa tcagcaagga gtgtgggaaa actgcatgcc
     1441 ccaggcctcc cccgccccag ggtgaattgg aagccctgga atgggccgag gcacaccagg
     1501 cagctgatct gggtgcatgt gggccacaga ccactctcac aaggttaaat ctttaacaag
     1561 agcctcatgt ttgttaggag aaggtgggac cccagcccaa gcacttcccc attgcagcct
     1621 ggcatgaaat ctttgccttt tagtggggat cactcctgcc cgagtcctgg ctgtggtggg
     1681 gactctgcaa gttgctaacc cagcgtccat tctctttcct ccgtactaac agaaccccgg
     1741 tgcctctgcc cagttccaat agcgggcaga cgagagccat gtcctgggct cccttgcagc
     1801 ccggggtgtg cagctgtggc gtggaggtgg gtggtgctgg gagagacttg cagggaagct
     1861 cctgtgaagg ggactcagct gccacatgca ggacccttcc cctttgcctt cttcctgcct
     1921 ggaacatgga tgtgatggct ggtgctggga cagctgtcct gagagcgtga ggaaagggtc
     1981 acaccctaag gacagtggag cagaacacag gaaggaccct gggcctttgc tgacgcagaa
     2041 cgcgggaagg accctgggcc tttgctgaca taccagcccc agactactta aattcagctt
     2101 tttttttaat gtgagaaaat aaatgcaccc ctctctggtt taa
//
