LOCUS       NM_001079537            3251 bp    mRNA    linear   PRI 04-OCT-2024
DEFINITION  Homo sapiens trafficking protein particle complex subunit 6B
            (TRAPPC6B), transcript variant 1, mRNA.
ACCESSION   NM_001079537
VERSION     NM_001079537.2
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 3251)
  AUTHORS   Almousa,H., Lewis,S.A., Bakhtiari,S., Nordlie,S.H., Pagnozzi,A.,
            Magee,H., Efthymiou,S., Heim,J.A., Cornejo,P., Zaki,M.S., Anwar,N.,
            Maqbool,S., Rahman,F., Neilson,D.E., Vemuri,A., Jin,S.C.,
            Yang,X.R., Heidari,A., van Gassen,K., Trimouille,A.,
            Thauvin-Robinet,C., Liu,J., Bruel,A.L., Tomoum,H., Shata,M.O.,
            Hashem,M.O., Toosi,M.B., Karimiani,E.G., Yesil,G., Lingappa,L.,
            Baruah,D., Ebrahimzadeh,F., Van-Gils,J., Faivre,L., Zamani,M.,
            Galehdari,H., Sadeghian,S., Shariati,G., Mohammad,R., van der
            Smagt,J., Qari,A., Vincent,J.B., Innes,A.M., Dursun,A., Ozgul,R.K.,
            Akar,H.T., Bilguvar,K., Mignot,C., Keren,B., Raveli,C., Burglen,L.,
            Afenjar,A., Kaat,L.D., van Slegtenhorst,M., Alkuraya,F.,
            Houlden,H., Padilla-Lopez,S., Maroofian,R., Sacher,M. and
            Kruer,M.C.
  TITLE     TRAPPC6B biallelic variants cause a neurodevelopmental disorder
            with TRAPP II and trafficking disruptions
  JOURNAL   Brain 147 (1), 311-324 (2024)
   PUBMED   37713627
  REMARK    GeneRIF: TRAPPC6B biallelic variants cause a neurodevelopmental
            disorder with TRAPP II and trafficking disruptions.
REFERENCE   2  (bases 1 to 3251)
  AUTHORS   Marin-Valencia,I., Novarino,G., Johansen,A., Rosti,B., Issa,M.Y.,
            Musaev,D., Bhat,G., Scott,E., Silhavy,J.L., Stanley,V., Rosti,R.O.,
            Gleeson,J.W., Imam,F.B., Zaki,M.S. and Gleeson,J.G.
  TITLE     A homozygous founder mutation in TRAPPC6B associates with a
            neurodevelopmental disorder characterised by microcephaly, epilepsy
            and autistic features
  JOURNAL   J Med Genet 55 (1), 48-54 (2018)
   PUBMED   28626029
  REMARK    GeneRIF: This study provides clinical and functional evidence of
            the role of TRAPPC6B in brain development and function.
REFERENCE   3  (bases 1 to 3251)
  AUTHORS   Aridon,P., De Fusco,M., Winkelmann,J.W., Zucconi,M., Arnao,V.,
            Ferini-Strambi,L. and Casari,G.
  TITLE     A TRAPPC6B splicing variant associates to restless legs syndrome
  JOURNAL   Parkinsonism Relat Disord 31, 135-138 (2016)
   PUBMED   27569842
  REMARK    GeneRIF: This study identified a TRAPPC6B gene mutation associated
            to the RLS locus on chromosome 14.
REFERENCE   4  (bases 1 to 3251)
  AUTHORS   Kim,J.J., Lipatova,Z. and Segev,N.
  TITLE     TRAPP Complexes in Secretion and Autophagy
  JOURNAL   Front Cell Dev Biol 4, 20 (2016)
   PUBMED   27066478
  REMARK    Review article
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3251)
  AUTHORS   Kummel,D., Oeckinghaus,A., Wang,C., Krappmann,D. and Heinemann,U.
  TITLE     Distinct isocomplexes of the TRAPP trafficking factor coexist
            inside human cells
  JOURNAL   FEBS Lett 582 (27), 3729-3733 (2008)
   PUBMED   18930054
REFERENCE   6  (bases 1 to 3251)
  AUTHORS   Kummel,D., Heinemann,U. and Veit,M.
  TITLE     Unique self-palmitoylation activity of the transport protein
            particle component Bet3: a mechanism required for protein stability
  JOURNAL   Proc Natl Acad Sci U S A 103 (34), 12701-12706 (2006)
   PUBMED   16908848
REFERENCE   7  (bases 1 to 3251)
  AUTHORS   Gwynn,B., Smith,R.S., Rowe,L.B., Taylor,B.A. and Peters,L.L.
  TITLE     A mouse TRAPP-related protein is involved in pigmentation
  JOURNAL   Genomics 88 (2), 196-203 (2006)
   PUBMED   16697553
REFERENCE   8  (bases 1 to 3251)
  AUTHORS   Kummel,D., Muller,J.J., Roske,Y., Misselwitz,R., Bussow,K. and
            Heinemann,U.
  TITLE     The structure of the TRAPP subunit TPC6 suggests a model for a
            TRAPP subcomplex
  JOURNAL   EMBO Rep 6 (8), 787-793 (2005)
   PUBMED   16025134
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL132639.4, BX161510.1 and AK025437.1.
            
            On Nov 22, 2018 this sequence version replaced NM_001079537.1.
            
            Summary: TRAPPC6B is a component of TRAPP complexes, which are
            tethering complexes involved in vesicle transport (Kummel et al.,
            2005 [PubMed 16025134]).[supplied by OMIM, Mar 2008].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            CCDS Note: This CCDS ID represents the longer isoform encoded by
            the TRAPPC6B gene. The shorter isoform is represented by
            CCDS9670.1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803614.259889.1,
                                           SRR1660805.28761.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142670, SAMEA2145743
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000330149.10/ ENSP00000330289.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-11                AL132639.4         13153-13163         c
            12-3221             BX161510.1         1-3210
            3222-3251           AK025437.1         1977-2006
FEATURES             Location/Qualifiers
     source          1..3251
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q21.1"
     gene            1..3251
                     /gene="TRAPPC6B"
                     /gene_synonym="NEDMEBA; TPC6"
                     /note="trafficking protein particle complex subunit 6B"
                     /db_xref="GeneID:122553"
                     /db_xref="HGNC:HGNC:23066"
                     /db_xref="MIM:610397"
     exon            1..319
                     /gene="TRAPPC6B"
                     /gene_synonym="NEDMEBA; TPC6"
                     /inference="alignment:Splign:2.1.0"
     CDS             239..715
                     /gene="TRAPPC6B"
                     /gene_synonym="NEDMEBA; TPC6"
                     /note="isoform 1 is encoded by transcript variant 1; TRAPP
                     complex subunit 6B; trafficking protein particle complex
                     6B"
                     /codon_start=1
                     /product="trafficking protein particle complex subunit 6B
                     isoform 1"
                     /protein_id="NP_001073005.1"
                     /db_xref="CCDS:CCDS41947.1"
                     /db_xref="GeneID:122553"
                     /db_xref="HGNC:HGNC:23066"
                     /db_xref="MIM:610397"
                     /translation="MADEALFLLLHNEMVSGVYKSAEQGEVENGRCITKLENMGFRVG
                     QGLIERFTKDTARFKDELDIMKFICKDFWTTVFKKQIDNLRTNHQGIYVLQDNKFRLL
                     TQMSAGKQYLEHASKYLAFTCGLIRGGLSNLGIKSIVTAEVSSMPACKFQVMIQKL"
     exon            320..387
                     /gene="TRAPPC6B"
                     /gene_synonym="NEDMEBA; TPC6"
                     /inference="alignment:Splign:2.1.0"
     exon            388..505
                     /gene="TRAPPC6B"
                     /gene_synonym="NEDMEBA; TPC6"
                     /inference="alignment:Splign:2.1.0"
     exon            506..589
                     /gene="TRAPPC6B"
                     /gene_synonym="NEDMEBA; TPC6"
                     /inference="alignment:Splign:2.1.0"
     exon            590..683
                     /gene="TRAPPC6B"
                     /gene_synonym="NEDMEBA; TPC6"
                     /inference="alignment:Splign:2.1.0"
     exon            684..3251
                     /gene="TRAPPC6B"
                     /gene_synonym="NEDMEBA; TPC6"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3228..3233
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TRAPPC6B"
                     /gene_synonym="NEDMEBA; TPC6"
                     /note="hexamer: AATAAA"
     polyA_site      3251
                     /gene="TRAPPC6B"
                     /gene_synonym="NEDMEBA; TPC6"
                     /note="major polyA site"
ORIGIN      
        1 agactttagt tcggccctag gatttggtag ccccgaagtg tgggctctct ccagtaccag
       61 actcatttca gtaccagcct ttgggaagtc gtgtgaatac ctcggtctct tagccacagg
      121 gatagaatgg cggcctgacg gagccgcggc gccggcgaag tcgctgaggc gcgagctgga
      181 acccccagac cagctcaaac gggagccaaa actcgaagct tggaagaatt agcaggaaat
      241 ggcggatgag gcgttgtttt tgcttctcca taacgagatg gtgtctggag tgtacaagtc
      301 cgcggagcag ggggaggtgg aaaacggacg atgtattact aagctggaaa acatggggtt
      361 tcgagtggga caaggattga tagaaaggtt tacaaaagat actgcaaggt tcaaggatga
      421 gttagatatc atgaagttca tttgtaaaga tttttggact acggtattca agaaacaaat
      481 cgacaatcta aggacaaatc atcagggcat ctatgtactt caggacaaca aatttcgcct
      541 gcttactcag atgtctgcag gaaaacagta tttagaacat gcatctaagt atttagcatt
      601 tacgtgtggc ttaatcagag gtggcttatc aaacttggga ataaaaagta ttgtaacagc
      661 tgaagtgtct tcaatgcctg cttgcaaatt tcaggtgatg atacagaagc tgtagaacat
      721 actgaaatgc aaggcttcaa cagtgtaaag agataaatta ttcatgtaaa agtatttcaa
      781 gtagtgatga tttaattaca ttgttcgatg tttgtacagg agtaagcatg tatttttatc
      841 aatttaacac agatcaaagg agatgaaggg acattctgcc atgacataca cttaaccaaa
      901 actattcaaa atgaaaaccg gatttcaaat aaccagacac caagatgcag ggcccttatt
      961 ttaaaccttt ttatttggtt agagtgatat gtatttagcc atagatggag aaacaaagct
     1021 cagggtttgt tgaattagca tgagagaaaa ttatgtacca acagaattat ttgtgagaag
     1081 aatgaacaaa ttttgataaa gtatgaattt gttttatttt aaaaagcaaa catactaaat
     1141 tttttttatt ttattgctta taatttatta agaatgttta cacctgtata aggatttcat
     1201 atatacattg tatgtgtgta tatataaata catatatgac tgcctaaatt gtttataaat
     1261 ttaatttttc tttaataggt ttcattcctt cagagctcca ttaatgtaat caaaatgaaa
     1321 tatagattag tttaaatgtg aattcagtga ctctagggcc aaagaatatt aggtatgttt
     1381 ggaaagaatt tttgtattta ttcctgttac agttttgact ttcaacttct ctccccgtgc
     1441 atggaagtcc tggtaaagga tctaacatct ttattccctt ctttcctctt ccagctgagc
     1501 agagttggat aattgaatta gtcattctga cattctttgg accatatcat cttagtggtt
     1561 tggggtcagt gctcatctga tatatctttc ttaccacctc ttctacttac tttctcttac
     1621 ttaaattatc tggcataagc agttatctcc agcttttgtt agaatcttgc atgttgatta
     1681 ctaaaactat actttgtttc ccatttattt attacccttt tgcatgtatt tgtgtgacag
     1741 ggaactctgc agcagggggt gactgacaca ccaaacaaga tgtttcactg ggtactctgc
     1801 catagaaatg gcagattaag aagattgact ataccaaaca ttatattaaa aacacaaaat
     1861 aaaaactata aaaatgtact ttaggacatt aaagaaaact caagttagaa gcataccatt
     1921 ttcctttcat ggaagggtac agtattacaa agataatttg tttaacttga tttattaaat
     1981 tctagttatg tgccctataa tgatgtttca gtcagtgaca gacctcatat atggcagtgg
     2041 ttccataaga ttacaatact gtatttttac tgtaccttct ttatgtttag atatgcaagt
     2101 acttaccatt gtgttacagt gtcctacagt attcactaca ataatatgct gtacaggttt
     2161 gtagcctagg agcaataggc catagcttag gtgtatagta gatcatacca tctaggtttg
     2221 tgtaagtaca ctctgtgatt gtacaatttt aaaatctcct aatgatgatg catttctcag
     2281 aatgtatccc ctttgctaag caatgcatga ctgcaatcct aattctcaca tgttttgggg
     2341 aaaaaatttt aattttgaaa aaatttagga aagttcctac caaatataca tgtataaagt
     2401 ttattaaaag tcataatgac ccaggaatag ctaatgacac agaagtagat caaaatagaa
     2461 cacaatagag aacttcaaaa taaaacaggt gtgagaattg tgtgtgtgaa aaagctgggt
     2521 tcaaataagt tggtttgtta gacattcata tgcctaccca tcagccattt cgttctccct
     2581 tccttgctga caaagcccca tttttttttt cttttttttt ggcctaaaac tctgtatggc
     2641 tgccttgtgc tatagaatag ggtgcttccc tagcctagag agggtgagtg ttgattagat
     2701 tctgtgccaa tcatggtaat tggcttactt gatcatttga tggaatctag gctaacgaga
     2761 caaaggaagt ctgaaggctt tgaataagaa attttctgtt gctcttaaca attgatacaa
     2821 gttagggatt tgccagcatc cctcttctgc ttctcagtga agatatgtga tatggatgtt
     2881 tgaagctaat ctgcaacagc cttctgatgg ccatgaaagg acaagtatgg agatgaaagc
     2941 tatcacactg agaatagtgg gatgtagata gaaagcacct gaattgtgct tctgaattaa
     3001 ccaatccagg aactgcttta cctttggact ttttgttatg tgagatattc tttatattgt
     3061 tccatttgct ttgggtatat gtatattgtt acttgtagcc aaaaagaaac ctctcttagt
     3121 agaaacaaag ggagagttag gttattcaaa aattagtatg ggacaattga atatgccttt
     3181 ttctgcggga gtaggtgggg agaaacttaa aggttcactt gtaaaacaat aaagtactaa
     3241 agaaaatgtg a
//
