LOCUS       NM_018668               2501 bp    mRNA    linear   PRI 12-FEB-2025
DEFINITION  Homo sapiens VPS33B late endosome and lysosome associated (VPS33B),
            transcript variant 1, mRNA.
ACCESSION   NM_018668
VERSION     NM_018668.5
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 2501)
  AUTHORS   Liu,R.J.Y., Al-Molieh,Y., Chen,S.Z., Drobac,M., Urban,D.,
            Chen,C.H., Yao,H.H.Y., Geng,R.S.Q., Li,L., Pluthero,F.G.,
            Benlekbir,S., Rubinstein,J.L. and Kahr,W.H.A.
  TITLE     The Sec1-Munc18 protein VPS33B forms a uniquely bidirectional
            complex with VPS16B
  JOURNAL   J Biol Chem 299 (6), 104718 (2023)
   PUBMED   37062417
  REMARK    GeneRIF: The Sec1-Munc18 protein VPS33B forms a uniquely
            bidirectional complex with VPS16B.
REFERENCE   2  (bases 1 to 2501)
  AUTHORS   Lipinski,P., Szczaluba,K., Buda,P., Zakharova,E.Y., Baydakova,G.,
            Lugowska,A., Rozdzynska-Swiatkowska,A., Cyske,Z., Wegrzyn,G.,
            Pollak,A., Ploski,R. and Tylki-Szymanska,A.
  TITLE     Mucopolysaccharidosis-Plus Syndrome: Report on a Polish Patient
            with a Novel VPS33A Variant with Comparison with Other Described
            Patients
  JOURNAL   Int J Mol Sci 23 (19), 11424 (2022)
   PUBMED   36232726
  REMARK    GeneRIF: Mucopolysaccharidosis-Plus Syndrome: Report on a Polish
            Patient with a Novel VPS33A Variant with Comparison with Other
            Described Patients.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2501)
  AUTHORS   Ambrosio,A.L., Febvre,H.P. and Di Pietro,S.M.
  TITLE     Syntaxin 12 and COMMD3 are new factors that function with VPS33B in
            the biogenesis of platelet alpha-granules
  JOURNAL   Blood 139 (6), 922-935 (2022)
   PUBMED   34905616
  REMARK    GeneRIF: Syntaxin 12 and COMMD3 are new factors that function with
            VPS33B in the biogenesis of platelet alpha-granules.
REFERENCE   4  (bases 1 to 2501)
  AUTHORS   Ning,Y., Zeng,Z., Deng,Y., Feng,W., Huang,L., Liu,H., Lin,J.,
            Zhang,C., Fan,Y. and Liu,L.
  TITLE     VPS33B interacts with NESG1 to suppress cell growth and cisplatin
            chemoresistance in ovarian cancer
  JOURNAL   Cancer Sci 112 (5), 1785-1797 (2021)
   PUBMED   33788346
  REMARK    GeneRIF: VPS33B interacts with NESG1 to suppress cell growth and
            cisplatin chemoresistance in ovarian cancer.
            Erratum:[Cancer Sci. 2021 Jul;112(7):2931. doi: 10.1111/cas.15030..
            PMID: 34214226]
REFERENCE   5  (bases 1 to 2501)
  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   6  (bases 1 to 2501)
  AUTHORS   Gissen,P., Johnson,C.A., Gentle,D., Hurst,L.D., Doherty,A.J.,
            O'Kane,C.J., Kelly,D.A. and Maher,E.R.
  TITLE     Comparative evolutionary analysis of VPS33 homologues: genetic and
            functional insights
  JOURNAL   Hum Mol Genet 14 (10), 1261-1270 (2005)
   PUBMED   15790593
  REMARK    GeneRIF: A and B classes reflect the evolution of
            organelle/tissue-specific functions
REFERENCE   7  (bases 1 to 2501)
  AUTHORS   Gissen,P., Johnson,C.A., Morgan,N.V., Stapelbroek,J.M., Forshew,T.,
            Cooper,W.N., McKiernan,P.J., Klomp,L.W., Morris,A.A., Wraith,J.E.,
            McClean,P., Lynch,S.A., Thompson,R.J., Lo,B., Quarrell,O.W., Di
            Rocco,M., Trembath,R.C., Mandel,H., Wali,S., Karet,F.E.,
            Knisely,A.S., Houwen,R.H., Kelly,D.A. and Maher,E.R.
  TITLE     Mutations in VPS33B, encoding a regulator of SNARE-dependent
            membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis
            (ARC) syndrome
  JOURNAL   Nat Genet 36 (4), 400-404 (2004)
   PUBMED   15052268
  REMARK    GeneRIF: encodes a homolog of the class C yeast vacuolar protein
            sorting gene, that contains a Sec1-like domain important in the
            regulation of vesicle-to-target SNARE complex formation and
            subsequent membrane fusion
REFERENCE   8  (bases 1 to 2501)
  AUTHORS   Huizing,M., Didier,A., Walenta,J., Anikster,Y., Gahl,W.A. and
            Kramer,H.
  TITLE     Molecular cloning and characterization of human VPS18, VPS 11,
            VPS16, and VPS33
  JOURNAL   Gene 264 (2), 241-247 (2001)
   PUBMED   11250079
REFERENCE   9  (bases 1 to 2501)
  AUTHORS   Carim,L., Sumoy,L., Andreu,N., Estivill,X. and Escarceller,M.
  TITLE     Cloning, mapping and expression analysis of VPS33B, the human
            orthologue of rat Vps33b
  JOURNAL   Cytogenet Cell Genet 89 (1-2), 92-95 (2000)
   PUBMED   10894945
REFERENCE   10 (bases 1 to 2501)
  AUTHORS   Pevsner,J., Hsu,S.C., Hyde,P.S. and Scheller,R.H.
  TITLE     Mammalian homologues of yeast vacuolar protein sorting (vps) genes
            implicated in Golgi-to-lysosome trafficking
  JOURNAL   Gene 183 (1-2), 7-14 (1996)
   PUBMED   8996080
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC397488.1, AF308803.1 and
            AF201694.1.
            
            On Dec 4, 2019 this sequence version replaced NM_018668.4.
            
            Summary: Vesicle mediated protein sorting plays an important role
            in segregation of intracellular molecules into distinct organelles.
            Genetic studies in yeast have identified more than 40 vacuolar
            protein sorting (VPS) genes involved in vesicle transport to
            vacuoles. This gene is a member of the Sec-1 domain family, and
            encodes the human ortholog of rat Vps33b which is homologous to the
            yeast class C Vps33 protein. The mammalian class C vacuolar protein
            sorting proteins are predominantly associated with late
            endosomes/lysosomes, and like their yeast counterparts, may mediate
            vesicle trafficking steps in the endosome/lysosome pathway.
            Mutations in this gene are associated with arthrogryposis-renal
            dysfunction-cholestasis syndrome. Alternative splicing results in
            multiple transcript variants. [provided by RefSeq, Jan 2014].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest 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 :: AF308803.1, AF201694.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000333371.8/ ENSP00000327650.4
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-11                DC397488.1         28-38
            12-1884             AF308803.1         3-1875
            1885-2501           AF201694.1         1843-2459
FEATURES             Location/Qualifiers
     source          1..2501
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q26.1"
     gene            1..2501
                     /gene="VPS33B"
                     /gene_synonym="KDIDAR; PFIC12"
                     /note="VPS33B late endosome and lysosome associated"
                     /db_xref="GeneID:26276"
                     /db_xref="HGNC:HGNC:12712"
                     /db_xref="MIM:608552"
     exon            1..441
                     /gene="VPS33B"
                     /gene_synonym="KDIDAR; PFIC12"
                     /inference="alignment:Splign:2.1.0"
     CDS             346..2199
                     /gene="VPS33B"
                     /gene_synonym="KDIDAR; PFIC12"
                     /note="isoform 1 is encoded by transcript variant 1;
                     vacuolar protein sorting-associated protein 33B; vacuolar
                     protein sorting 33-like protein B; vacuolar protein
                     sorting 33 homolog B"
                     /codon_start=1
                     /product="vacuolar protein sorting-associated protein 33B
                     isoform 1"
                     /protein_id="NP_061138.3"
                     /db_xref="CCDS:CCDS10369.1"
                     /db_xref="GeneID:26276"
                     /db_xref="HGNC:HGNC:12712"
                     /db_xref="MIM:608552"
                     /translation="MAFPHRPDAPELPDFSMLKRLARDQLIYLLEQLPGKKDLFIEAD
                     LMSPLDRIANVSILKQHEVDKLYKVENKPALSSNEQLCFLVRPRIKNMRYIASLVNAD
                     KLAGRTRKYKVIFSPQKFYACEMVLEEEGIYGDVSCDEWAFSLLPLDVDLLSMELPEF
                     FRDYFLEGDQRWINTVAQALHLLSTLYGPFPNCYGIGRCAKMAYELWRNLEEEEDGET
                     KGRRPEIGHIFLLDRDVDFVTALCSQVVYEGLVDDTFRIKCGSVDFGPEVTSSDKSLK
                     VLLNAEDKVFNEIRNEHFSNVFGFLSQKARNLQAQYDRRRGMDIKQMKNFVSQELKGL
                     KQEHRLLSLHIGACESIMKKKTKQDFQELIKTEHALLEGFNIRESTSYIEEHIDRQVS
                     PIESLRLMCLLSITENGLIPKDYRSLKTQYLQSYGPEHLLTFSNLRRAGLLTEQAPGD
                     TLTAVESKVSKLVTDKAAGKITDAFSSLAKRSNFRAISKKLNLIPRVDGEYDLKVPRD
                     MAYVFGGAYVPLSCRIIEQVLERRSWQGLDEVVRLLNCSDFAFTDMTKEDKASSESLR
                     LILVVFLGGCTFSEISALRFLGREKGYRFIFLTTAVTNSARLMEAMSEVKA"
     exon            442..522
                     /gene="VPS33B"
                     /gene_synonym="KDIDAR; PFIC12"
                     /inference="alignment:Splign:2.1.0"
     exon            523..584
                     /gene="VPS33B"
                     /gene_synonym="KDIDAR; PFIC12"
                     /inference="alignment:Splign:2.1.0"
     exon            585..634
                     /gene="VPS33B"
                     /gene_synonym="KDIDAR; PFIC12"
                     /inference="alignment:Splign:2.1.0"
     exon            635..702
                     /gene="VPS33B"
                     /gene_synonym="KDIDAR; PFIC12"
                     /inference="alignment:Splign:2.1.0"
     exon            703..748
                     /gene="VPS33B"
                     /gene_synonym="KDIDAR; PFIC12"
                     /inference="alignment:Splign:2.1.0"
     exon            749..843
                     /gene="VPS33B"
                     /gene_synonym="KDIDAR; PFIC12"
                     /inference="alignment:Splign:2.1.0"
     exon            844..948
                     /gene="VPS33B"
                     /gene_synonym="KDIDAR; PFIC12"
                     /inference="alignment:Splign:2.1.0"
     exon            949..1045
                     /gene="VPS33B"
                     /gene_synonym="KDIDAR; PFIC12"
                     /inference="alignment:Splign:2.1.0"
     exon            1046..1123
                     /gene="VPS33B"
                     /gene_synonym="KDIDAR; PFIC12"
                     /inference="alignment:Splign:2.1.0"
     exon            1124..1197
                     /gene="VPS33B"
                     /gene_synonym="KDIDAR; PFIC12"
                     /inference="alignment:Splign:2.1.0"
     exon            1198..1284
                     /gene="VPS33B"
                     /gene_synonym="KDIDAR; PFIC12"
                     /inference="alignment:Splign:2.1.0"
     exon            1285..1375
                     /gene="VPS33B"
                     /gene_synonym="KDIDAR; PFIC12"
                     /inference="alignment:Splign:2.1.0"
     exon            1376..1450
                     /gene="VPS33B"
                     /gene_synonym="KDIDAR; PFIC12"
                     /inference="alignment:Splign:2.1.0"
     exon            1451..1515
                     /gene="VPS33B"
                     /gene_synonym="KDIDAR; PFIC12"
                     /inference="alignment:Splign:2.1.0"
     exon            1516..1570
                     /gene="VPS33B"
                     /gene_synonym="KDIDAR; PFIC12"
                     /inference="alignment:Splign:2.1.0"
     exon            1571..1617
                     /gene="VPS33B"
                     /gene_synonym="KDIDAR; PFIC12"
                     /inference="alignment:Splign:2.1.0"
     exon            1618..1750
                     /gene="VPS33B"
                     /gene_synonym="KDIDAR; PFIC12"
                     /inference="alignment:Splign:2.1.0"
     exon            1751..1824
                     /gene="VPS33B"
                     /gene_synonym="KDIDAR; PFIC12"
                     /inference="alignment:Splign:2.1.0"
     exon            1825..1926
                     /gene="VPS33B"
                     /gene_synonym="KDIDAR; PFIC12"
                     /inference="alignment:Splign:2.1.0"
     exon            1927..2002
                     /gene="VPS33B"
                     /gene_synonym="KDIDAR; PFIC12"
                     /inference="alignment:Splign:2.1.0"
     exon            2003..2119
                     /gene="VPS33B"
                     /gene_synonym="KDIDAR; PFIC12"
                     /inference="alignment:Splign:2.1.0"
     exon            2120..2501
                     /gene="VPS33B"
                     /gene_synonym="KDIDAR; PFIC12"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2476..2481
                     /regulatory_class="polyA_signal_sequence"
                     /gene="VPS33B"
                     /gene_synonym="KDIDAR; PFIC12"
                     /note="hexamer: AATAAA"
     polyA_site      2501
                     /gene="VPS33B"
                     /gene_synonym="KDIDAR; PFIC12"
                     /note="major polyA site"
ORIGIN      
        1 gaagtcgctt ctttttctgg tagaaggcgg ggttctcctc gtacgctgcg gagtctctgc
       61 ggggtgtaga ccggaatcct gctgacgggc agagtggatc agggagggag ggtcgagaca
      121 cggtggctgc aggtctgaga caaggctgct ccgaggtagt agctctcttg cctggaggtg
      181 gccattcatt cctggagtgc tgctgaggag cgagggccca tctggggtct ctggaagtcg
      241 gtgcccaggc ctgaaggata gccccccttg cgcttccctg ggctgcggcc ggccttctca
      301 gaacgaaggg cgtccttcca ccccgcggcg caggtgaccg ctgccatggc ttttccccat
      361 cggccggacg cccctgagct gcctgacttc tccatgctga agaggctggc tcgagaccag
      421 ctcatctatc tgctggagca gcttcctgga aaaaaggatt tattcattga ggcagatctc
      481 atgagccctt tggatcgaat tgccaatgtc tccatcctga agcaacacga agtagacaag
      541 ctatacaagg tggagaacaa gccagccctc agctccaatg aacaattgtg cttcttggtc
      601 agaccccgca tcaagaatat gcgatacatt gccagtcttg tcaatgctga caaattggct
      661 ggccgaactc gcaaatacaa agtgatcttc agccctcaaa agttctatgc gtgtgagatg
      721 gtgcttgagg aagagggaat ctatggagat gtgagctgtg atgaatgggc cttctctttg
      781 ctgcctcttg atgtggatct gctgagcatg gaactaccag aatttttcag ggattacttt
      841 ctggaaggag atcagcgttg gatcaacact gtagctcagg ccttacacct tctcagcact
      901 ctctatggac cctttccaaa ctgctatgga attggcaggt gcgccaagat ggcatatgaa
      961 ttgtggagga acctggagga ggaggaggat ggcgaaacca agggccgaag gccagagatt
     1021 ggacatatct ttctcttgga cagagatgtg gactttgtga cagcactttg ctcccaagtg
     1081 gtttatgagg gcctagtaga tgacaccttc cgcatcaagt gtgggagtgt cgactttggc
     1141 ccagaagtca catcctctga caagagcctg aaggtgctac tcaatgccga ggacaaggtg
     1201 tttaatgaga ttcggaacga gcacttctcc aatgtctttg gcttcttgag ccagaaggcc
     1261 cggaacttgc aggcccagta tgatcgccgg agaggcatgg acattaagca gatgaagaat
     1321 ttcgtgtccc aggagctcaa gggcctgaaa caggagcacc gcctgctgag tctccatatt
     1381 ggggcctgtg aatccatcat gaagaagaaa accaagcagg atttccagga gctaatcaag
     1441 actgagcatg cactgctaga ggggttcaac atccgggaga gcaccagcta cattgaggaa
     1501 cacatagacc ggcaggtgtc gcctatagaa agcctgcgcc tcatgtgcct tttgtccatc
     1561 actgagaatg gtttgatccc caaggattac cgatctctga aaacacagta tctgcagagc
     1621 tatggccctg agcacctgct aaccttctcc aatctgcgaa gagctgggct cctaacggag
     1681 caggcccccg gggacaccct cacagccgtg gagagtaaag tgagcaagct ggtgaccgac
     1741 aaggctgcag gaaagattac tgatgccttc agttctctgg ccaagaggag caattttcgt
     1801 gccatcagca aaaagctgaa tttgatccca cgtgtggacg gcgagtatga tctgaaagtg
     1861 ccccgagaca tggcttacgt cttcggtggt gcttatgtgc ccctgagctg ccgaatcatt
     1921 gagcaggtgc tagagcggcg aagctggcag ggccttgatg aggtggtacg gctgctcaac
     1981 tgcagtgact ttgcattcac agatatgact aaggaagaca aggcttccag tgagtccctg
     2041 cgcctcatct tggtggtgtt cttgggtggt tgtacattct ctgagatctc agccctccgg
     2101 ttcctgggca gagagaaagg ctacaggttc attttcctga cgacagcagt cacaaacagc
     2161 gctcgcctta tggaggccat gagtgaggtg aaagcctgat gtttttcccg gccagtgttg
     2221 acatcttccc tgaacacatt cctcagtgag atgcaggcat ctggcaccca gctgctataa
     2281 ccaagtgtcc accaactacc tgctaagagc cgggagcatg gaacgtgttg ggatttagag
     2341 aacattatct gagaaaagag ttcacttcct gctcccagga tatttctctt ttctgtttat
     2401 gaagtacaac ccatgctgct aagatgcgag caggaagagg catcctttgc taaatcctgt
     2461 ttgaatgtca ttgtaaataa agcctctgct ctcagatgta a
//
