LOCUS       NP_056004                811 aa            linear   PRI 12-OCT-2024
DEFINITION  exocyst complex component 6B isoform 2 [Homo sapiens].
ACCESSION   NP_056004 XP_039570 XP_951009
VERSION     NP_056004.1
DBSOURCE    REFSEQ: accession NM_015189.3
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  (residues 1 to 811)
  AUTHORS   Simsek-Kiper,P.O., Jacob,P., Upadhyai,P., Taskiran,Z.E.,
            Guleria,V.S., Karaosmanoglu,B., Imren,G., Gocmen,R., Bhavani,G.S.,
            Kausthubham,N., Shah,H., Utine,G.E., Boduroglu,K. and Girisha,K.M.
  TITLE     Biallelic loss-of-function variants in EXOC6B are associated with
            impaired primary ciliogenesis and cause spondylo-epi-metaphyseal
            dysplasia with joint laxity type 3
  JOURNAL   Hum Mutat 43 (12), 2116-2129 (2022)
   PUBMED   36150098
  REMARK    GeneRIF: Biallelic loss-of-function variants in EXOC6B are
            associated with impaired primary ciliogenesis and cause
            spondylo-epi-metaphyseal dysplasia with joint laxity type 3.
            Review article
REFERENCE   2  (residues 1 to 811)
  AUTHORS   Zheng,Y., Li,Z., Yang,S., Wang,Y. and Luan,Z.
  TITLE     CircEXOC6B Suppresses the Proliferation and Motility and Sensitizes
            Ovarian Cancer Cells to Paclitaxel Through miR-376c-3p/FOXO3 Axis
  JOURNAL   Cancer Biother Radiopharm 37 (9), 802-814 (2022)
   PUBMED   33006481
  REMARK    GeneRIF: CircEXOC6B Suppresses the Proliferation and Motility and
            Sensitizes Ovarian Cancer Cells to Paclitaxel Through
            miR-376c-3p/FOXO3 Axis.
REFERENCE   3  (residues 1 to 811)
  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  (residues 1 to 811)
  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  (residues 1 to 811)
  AUTHORS   Boldt,K., van Reeuwijk,J., Lu,Q., Koutroumpas,K., Nguyen,T.M.,
            Texier,Y., van Beersum,S.E., Horn,N., Willer,J.R., Mans,D.A.,
            Dougherty,G., Lamers,I.J., Coene,K.L., Arts,H.H., Betts,M.J.,
            Beyer,T., Bolat,E., Gloeckner,C.J., Haidari,K., Hetterschijt,L.,
            Iaconis,D., Jenkins,D., Klose,F., Knapp,B., Latour,B.,
            Letteboer,S.J., Marcelis,C.L., Mitic,D., Morleo,M., Oud,M.M.,
            Riemersma,M., Rix,S., Terhal,P.A., Toedt,G., van Dam,T.J., de
            Vrieze,E., Wissinger,Y., Wu,K.M., Apic,G., Beales,P.L.,
            Blacque,O.E., Gibson,T.J., Huynen,M.A., Katsanis,N., Kremer,H.,
            Omran,H., van Wijk,E., Wolfrum,U., Kepes,F., Davis,E.E., Franco,B.,
            Giles,R.H., Ueffing,M., Russell,R.B. and Roepman,R.
  CONSRTM   UK10K Rare Diseases Group
  TITLE     An organelle-specific protein landscape identifies novel diseases
            and molecular mechanisms
  JOURNAL   Nat Commun 7, 11491 (2016)
   PUBMED   27173435
  REMARK    Publication Status: Online-Only
REFERENCE   6  (residues 1 to 811)
  AUTHORS   Heider,M.R. and Munson,M.
  TITLE     Exorcising the exocyst complex
  JOURNAL   Traffic 13 (7), 898-907 (2012)
   PUBMED   22420621
  REMARK    Review article
REFERENCE   7  (residues 1 to 811)
  AUTHORS   Feng,S., Knodler,A., Ren,J., Zhang,J., Zhang,X., Hong,Y., Huang,S.,
            Peranen,J. and Guo,W.
  TITLE     A Rab8 guanine nucleotide exchange factor-effector interaction
            network regulates primary ciliogenesis
  JOURNAL   J Biol Chem 287 (19), 15602-15609 (2012)
   PUBMED   22433857
  REMARK    GeneRIF: Data suggest that the Rabin8-Rab8-Sec15 interaction may
            couple the activation of Rab8 to the recruitment of the Rab8
            effector and is involved in the regulation of vesicular trafficking
            for primary cilium formation.
REFERENCE   8  (residues 1 to 811)
  AUTHORS   Borsani,G., Piovani,G., Zoppi,N., Bertini,V., Bini,R.,
            Notarangelo,L. and Barlati,S.
  TITLE     Cytogenetic and molecular characterization of a de-novo t(2p;7p)
            translocation involving TNS3 and EXOC6B genes in a boy with a
            complex syndromic phenotype
  JOURNAL   Eur J Med Genet 51 (4), 292-302 (2008)
   PUBMED   18424204
  REMARK    GeneRIF: TNS3-EXOC6B and EXOC6B-TNS3 fusion transcripts are
            detected in a premature male newborn with a complex multisystemic
            phenotype associated with a balanced translocation.
REFERENCE   9  (residues 1 to 811)
  AUTHORS   Brymora,A., Valova,V.A., Larsen,M.R., Roufogalis,B.D. and
            Robinson,P.J.
  TITLE     The brain exocyst complex interacts with RalA in a GTP-dependent
            manner: identification of a novel mammalian Sec3 gene and a second
            Sec15 gene
  JOURNAL   J Biol Chem 276 (32), 29792-29797 (2001)
   PUBMED   11406615
REFERENCE   10 (residues 1 to 811)
  AUTHORS   Bhavani,G.S., Singh,S. and Girisha,K.M.
  TITLE     EXOC6B-Related Spondyloepimetaphyseal Dysplasia with Joint Laxity
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   37229238
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC092630.3, AK026474.1,
            AB023136.1, AC006461.2 and BM995822.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On or before Jun 26, 2007 this sequence version replaced
            XP_039570.7, XP_951009.2.
            
            Summary: This gene encodes a protein which is a part of the
            evolutionarily conserved exocyst, a multimeric protein complex
            necessary for exocytosis, which in turn, is crucial for cell
            growth, polarity and migration. Disruption of this gene may be
            associated with phenotypes exhibiting multiple symptoms including
            intellectual disability and developmental delay (DD). [provided by
            RefSeq, Jun 2016].
            
            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 :: SRR11853560.16081.1,
                                           SRR11853559.18637.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000272427.11/ ENSP00000272427.7
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..811
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p13.2"
     Protein         1..811
                     /product="exocyst complex component 6B isoform 2"
                     /note="SEC15 homolog B; SEC15-like protein 2; exocyst
                     complex component Sec15B"
                     /calculated_mol_wt=94070
     Region          260..280
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y2D4.3)"
     Region          465..771
                     /region_name="Sec15"
                     /note="Exocyst complex subunit Sec15-like; pfam04091"
                     /db_xref="CDD:461169"
     CDS             1..811
                     /gene="EXOC6B"
                     /gene_synonym="SEC15B; SEC15L2; SEMDJL3"
                     /coded_by="NM_015189.3:124..2559"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS46333.1"
                     /db_xref="GeneID:23233"
                     /db_xref="HGNC:HGNC:17085"
                     /db_xref="MIM:607880"
ORIGIN      
        1 mergkmaeae sletaaeher ilreiestdt acigptlrsv ydgeehgrfm ekletrirnh
       61 dreiekmcnf hyqgfvdsit ellkvrgeaq klknqvtdtn rklqhegkel viameelkqc
      121 rlqqrnisat vdklmlclpv lemysklrdq mktkrhypal ktlehlehty lpqvshyrfc
      181 kvmvdnipkl reeikdvsms dlkdflesir khsdkigeta mkqaqqqrnl dnivlqqpri
      241 gskrkskkda yiifdteies tspkseqdsg ildvedeedd eevpgaqdlv dfspvyrclh
      301 iysvlgaret fenyyrkqrr kqarlvlqpp snmhetldgy rkyfnqivgf fvvedhilht
      361 tqglvnrayi delwemalsk tiaalrthss ycsdpnlvld lknlivlfad tlqvygfpvn
      421 qlfdmlleir dqysetllkk wagifrnild sdnyspipvt seemykkvvg qfpfqdiele
      481 kqpfpkkfpf sefvpkvynq ikefiyaclk fsedlhlsst evddmirkst nllltrtlsn
      541 slqnvikrkn igltelvqii intthleksc kyleefitni tnvlpetvht tklygtttfk
      601 darhaaeeei ytnlnqkidq flqladydwm tgdlgnkasd ylvdliaflr stfavfthlp
      661 gkvaqtacms ackhlatslm qllleaevrq ltlgalqqfn ldvreceqfa rsgpvpgfqe
      721 dtlqlafidl rqlldlfiqw dwstyladyg qpnckylrvn pvtaltllek mkdtsrknnm
      781 faqfrknerd kqklidtvak qlrglisshh s
//
