LOCUS       NM_031296               4248 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens RAB33B, member RAS oncogene family (RAB33B), mRNA.
ACCESSION   NM_031296
VERSION     NM_031296.3
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  (bases 1 to 4248)
  AUTHORS   Pantoom,S., Konstantinidis,G., Voss,S., Han,H., Hofnagel,O., Li,Z.
            and Wu,Y.W.
  TITLE     RAB33B recruits the ATG16L1 complex to the phagophore via a
            noncanonical RAB binding protein
  JOURNAL   Autophagy 17 (9), 2290-2304 (2021)
   PUBMED   32960676
  REMARK    GeneRIF: RAB33B recruits the ATG16L1 complex to the phagophore via
            a noncanonical RAB binding protein.
REFERENCE   2  (bases 1 to 4248)
  AUTHORS   Ain,N.U., Fatima,Z., Naz,S. and Makitie,O.
  TITLE     RAB33B and PCNT variants in two Pakistani families with skeletal
            dysplasia and short stature
  JOURNAL   BMC Musculoskelet Disord 22 (1), 630 (2021)
   PUBMED   34284742
  REMARK    GeneRIF: RAB33B and PCNT variants in two Pakistani families with
            skeletal dysplasia and short stature.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 4248)
  AUTHORS   Tuysuz,B., Geyik,F., Yildirim,T., Alkaya,D.U., Sharifova,S. and
            Kafadar,A.
  TITLE     Seven patients with Smith-McCort dysplasia 2: Four novel nonsense
            variants in RAB33B and follow-up findings
  JOURNAL   Eur J Med Genet 64 (7), 104248 (2021)
   PUBMED   34000439
  REMARK    GeneRIF: Seven patients with Smith-McCort dysplasia 2: Four novel
            nonsense variants in RAB33B and follow-up findings.
REFERENCE   4  (bases 1 to 4248)
  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   5  (bases 1 to 4248)
  AUTHORS   Alshammari,M.J., Al-Otaibi,L. and Alkuraya,F.S.
  TITLE     Mutation in RAB33B, which encodes a regulator of retrograde Golgi
            transport, defines a second Dyggve--Melchior--Clausen locus
  JOURNAL   J Med Genet 49 (7), 455-461 (2012)
   PUBMED   22652534
  REMARK    GeneRIF: A second autosomal recessive locus for
            Dyggve-Melchior-Clausen syndrome exists on 4q31.1 and that Rab
            protein-encoding gene, RAB33B, is the likely disease gene in that
            locus.
REFERENCE   6  (bases 1 to 4248)
  AUTHORS   Nottingham,R.M., Ganley,I.G., Barr,F.A., Lambright,D.G. and
            Pfeffer,S.R.
  TITLE     RUTBC1 protein, a Rab9A effector that activates GTP hydrolysis by
            Rab32 and Rab33B proteins
  JOURNAL   J Biol Chem 286 (38), 33213-33222 (2011)
   PUBMED   21808068
REFERENCE   7  (bases 1 to 4248)
  AUTHORS   Starr,T., Sun,Y., Wilkins,N. and Storrie,B.
  TITLE     Rab33b and Rab6 are functionally overlapping regulators of Golgi
            homeostasis and trafficking
  JOURNAL   Traffic 11 (5), 626-636 (2010)
   PUBMED   20163571
REFERENCE   8  (bases 1 to 4248)
  AUTHORS   Itoh,T., Fujita,N., Kanno,E., Yamamoto,A., Yoshimori,T. and
            Fukuda,M.
  TITLE     Golgi-resident small GTPase Rab33B interacts with Atg16L and
            modulates autophagosome formation
  JOURNAL   Mol Biol Cell 19 (7), 2916-2925 (2008)
   PUBMED   18448665
  REMARK    GeneRIF: Rab33 modulates autophagosome formation through
            interaction with Atg16L
REFERENCE   9  (bases 1 to 4248)
  AUTHORS   Valsdottir,R., Hashimoto,H., Ashman,K., Koda,T., Storrie,B. and
            Nilsson,T.
  TITLE     Identification of rabaptin-5, rabex-5, and GM130 as putative
            effectors of rab33b, a regulator of retrograde traffic between the
            Golgi apparatus and ER
  JOURNAL   FEBS Lett 508 (2), 201-209 (2001)
   PUBMED   11718716
REFERENCE   10 (bases 1 to 4248)
  AUTHORS   Zheng,J.Y., Koda,T., Fujiwara,T., Kishi,M., Ikehara,Y. and
            Kakinuma,M.
  TITLE     A novel Rab GTPase, Rab33B, is ubiquitously expressed and localized
            to the medial Golgi cisternae
  JOURNAL   J Cell Sci 111 (Pt 8), 1061-1069 (1998)
   PUBMED   9512502
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL136904.1, AF350420.1 and
            AC114743.4.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_031296.2.
            
            Summary: This gene encodes a small GTP-binding protein of the Rab
            GTPase family, whose members function in vesicle transport during
            protein secretion and endocytosis. Rab GTPases are active,
            membrane-associated proteins that recruit effector proteins in the
            GTP-bound state and inactive cytosolic proteins when in a GDP-bound
            state. The protein encoded by this gene is ubiquitously expressed
            and has been implicated in Golgi to endoplasmic reticulum cycling
            of Golgi enzymes. In addition, this protein regulates Golgi
            homeostasis and coordinates intra-Golgi retrograde trafficking.
            Allelic variants in this gene have been associated with
            Dyggve-Melchior-Clausen syndrome and Smith-McCort dysplasia 2,
            which are autosomal recessive spondyloepimetaphyseal dysplasias
            characterized by skeletal abnormalities. [provided by RefSeq, Sep
            2016].
            
            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 :: SRR1660803.249893.1,
                                           SRR1803614.60934.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000305626.6/ ENSP00000306496.5
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-3521              AL136904.1         315-3835
            3522-3522           AF350420.1         3556-3556
            3523-3555           AL136904.1         3837-3869
            3556-4248           AC114743.4         38605-39297
FEATURES             Location/Qualifiers
     source          1..4248
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q31.1"
     gene            1..4248
                     /gene="RAB33B"
                     /gene_synonym="SMC2"
                     /note="RAB33B, member RAS oncogene family"
                     /db_xref="GeneID:83452"
                     /db_xref="HGNC:HGNC:16075"
                     /db_xref="MIM:605950"
     exon            1..324
                     /gene="RAB33B"
                     /gene_synonym="SMC2"
                     /inference="alignment:Splign:2.1.0"
     CDS             76..765
                     /gene="RAB33B"
                     /gene_synonym="SMC2"
                     /codon_start=1
                     /product="ras-related protein Rab-33B"
                     /protein_id="NP_112586.1"
                     /db_xref="CCDS:CCDS3747.1"
                     /db_xref="GeneID:83452"
                     /db_xref="HGNC:HGNC:16075"
                     /db_xref="MIM:605950"
                     /translation="MAEEMESSLEASFSSSGAVSGASGFLPPARSRIFKIIVIGDSNV
                     GKTCLTYRFCAGRFPDRTEATIGVDFRERAVEIDGERIKIQLWDTAGQERFRKSMVQH
                     YYRNVHAVVFVYDMTNMASFHSLPSWIEECKQHLLANDIPRILVGNKCDLRSAIQVPT
                     DLAQKFADTHSMPLFETSAKNPNDNDHVEAIFMTLAHKLKSHKPLMLSQPPDNGIILK
                     PEPKPAMTCWC"
     exon            325..4248
                     /gene="RAB33B"
                     /gene_synonym="SMC2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3530..3535
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RAB33B"
                     /gene_synonym="SMC2"
                     /note="hexamer: AATAAA"
     polyA_site      3555
                     /gene="RAB33B"
                     /gene_synonym="SMC2"
                     /note="major polyA site"
     regulatory      3598..3603
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RAB33B"
                     /gene_synonym="SMC2"
                     /note="hexamer: AATAAA"
     polyA_site      3617
                     /gene="RAB33B"
                     /gene_synonym="SMC2"
ORIGIN      
        1 gctcttgcgg tggcgtaatc tctcagcctt tctgtgtctc ctttcctccg cctcagtttg
       61 gggcgggtcg ggggaatggc tgaggagatg gagtcgtcgc tcgaggcaag cttttcgtcc
      121 agcggggcag tgtcaggggc ctcagggttt ttgcctcctg cccgctcccg catcttcaag
      181 ataatcgtga tcggcgactc caatgtgggc aagacatgcc tgacctaccg cttctgcgct
      241 ggccgcttcc ccgaccgcac cgaggccacg ataggggtgg atttccgaga acgagcggtg
      301 gagattgatg gggagcgcat caagatccag ctatgggaca cagcaggaca agaacgattc
      361 agaaagagca tggttcagca ctactacaga aatgtacatg ctgttgtctt cgtgtatgat
      421 atgaccaaca tggctagttt tcatagccta ccatcttgga tagaagaatg caaacaacat
      481 ttgctagcca atgatatacc acggattctt gttggaaata aatgtgactt gagaagtgcc
      541 atacaggtac ccacagactt ggcacaaaaa tttgctgaca cacacagtat gcctttgttt
      601 gaaacgtctg ctaaaaaccc caatgataat gaccatgtgg aagctatatt tatgaccttg
      661 gctcataagc ttaagagcca caaaccatta atgcttagtc agccccctga taatggaatt
      721 atcctgaagc ctgaaccaaa gcctgcaatg acgtgctggt gctaaataac agtctttatt
      781 atattatcta attttgacta aagaaatact tttgaagtat gacagtatta agtcataaga
      841 tttaatctca actataatgg gtcatcttga cactttgctg tttgtcattg tcacgctttt
      901 gtattttgta tctacttaag tttgtcactg tgacaacaca ggaaaagttg gttttcaggt
      961 gagattgaaa atgaagcaaa gataggatga atctgaacat ctctccatct agagcccaat
     1021 gaaggaagct tcaaatgaga acatgatgga atcagtaacc attcaatctt ttgtcctagg
     1081 attggaaaaa aatgttaaag gtttaggaca cacctaatag tatgtccttt gaatgggaag
     1141 tgttcttaat aggataaaaa ctggtatttg cctctcccca gagtactttt tttgtttttt
     1201 catagagacg gggtcttgct atgttgtcca ggctggcctt gagctcctgg gctcaagcaa
     1261 tcctcccacc tcagcctccc cagtactggg actgtaggta ctcaccactg catctggcct
     1321 ttctttgttt tattaacata tttagttttg ttattattgg tatgttttag agccaagact
     1381 ttagttccag tgggataaga aggcatagaa tgttttctgg ttcccagtcc ataaagaatg
     1441 acttttccaa gagttctaga tgtttgattt tctaattaat acttatcaga tctacaaaaa
     1501 tcattattat tttaaaagag ttatttgagt ttctttcttt cttttttttt tttttttttt
     1561 ttgagatgga gtctcgctct gtctccaggc tggagtgcag tggcgtcatc tcggctcact
     1621 gcaacctccg cctcccaggt tcaagtgatt ctcctgcctc agcctcccga gtagctggga
     1681 ttacaggcgt gcactaccac acccagctga tttttgtatt tttagtatag atggggtttc
     1741 accatgttgg ccaggatggt ctcgatctct tgacctcatg atccacccgc ctcagcttcc
     1801 caaagtgctg ggattacagg tgtgagtcac tgcacccagc cgagttgctt tcttactaaa
     1861 tcctattaaa atatgcaaaa ataagtcaga ttttaaggca aataaagtga cataaggtgc
     1921 tttatatttt attttggtat atttaaacag tgaaaaacta actgaaagca catgaagagt
     1981 tgtaacttgg gggaaaatag gtaaacatag cttctagcta acacaggaga cctattctta
     2041 gcctttacta atttcaagca gtgtatccca tatggtatct cttgctcttc cttcaactcc
     2101 aataaattta atgactaaat gccaagttaa caaatcaact tccatttgga ttgtaggtgt
     2161 gaaggcacaa ctctaattgc tattagtcta catgtatttc tgtaatagta ttgtgtcata
     2221 tcaattttta agatgtctaa attttatggt cacaagttat ccctcctcag tatgaaaaat
     2281 aaattagata ttgaaaaatg tctaaacttc agtgatggaa agaatatttc aagaagtttt
     2341 ttaacctaaa tacttttatt ttgaatttaa gtctttgcac ataaaatata gcaagcttac
     2401 atattaaact atttacgtaa atggaatgta agccatgact ttaactgaag tgttcacatt
     2461 cactaatttt gatagattgc tgtccttaat aattttggag gaaattaagc caaatgatta
     2521 ttgtactaca gtattttcag aatatgggaa atcaattaaa aatgtaatct aatctagttt
     2581 aagatttttg tttaatcatc atggtggtcc tacctggata atttaactat aaagacaaag
     2641 taattctatt aaatgaacta actgaaaata ataattatag gaagtgatta ttccatttta
     2701 agtattagag ctcaaattgg ctttatttgc atttagggag atcatgtttt cttaatcatg
     2761 ctggaattta aaaattgttt tacttgtatc gaaattaacc ttgatttata actatttttg
     2821 taataaaaca atgacagctg tagtaactat gatgggtgta acaacatttt tttaaagaag
     2881 ggaatctgtt tatcgctttt caaaatattt tctaaagtgg gggaagaaag tttatagact
     2941 ttccaagcac atttatggtt ttttattact attattatgg ttttaaaaag agtaacttta
     3001 tttctttttg taaggaatta agtaatatcc tttacagttc tgtgaaagga cttatttttt
     3061 aactgtaata tttattagtt ttaaaatatt tgtatctcat ttgtaacaat ttgttttaat
     3121 tttttatata tatgttttta tttttaaaaa acataccagt tgaatggggt taaagctttc
     3181 aatatcttaa aatatttata aaacatttca ctgttgcaaa atcacttcca aaatgatagc
     3241 tatctaacaa ctaattacta atttttaaag aacaaatcac acatttaaaa aatctgtaga
     3301 atttatttta actatgacct ttaattgaaa ataaataatt aaaatatcag acatgttttg
     3361 gaaaagtctt aatttgagaa caccaaagga aactacccca gaatctaatg tagttcgcta
     3421 ttaataacaa tgcattattg aaagtatatt gcaaatacat gtttcctcat gaaatctaag
     3481 taattttgtt gtggaatagt gtcactgtta catttccccc atgaagttca ataaaccagc
     3541 ttagccacaa agaaattgtg ttttattttc tttgtttggt tactgggtag agtataaaat
     3601 aaaacaatct ttttttcctc ctggtttcca gataatatta tatatatgat acacttttga
     3661 aaacaacaaa aagcccccaa cccattggac aattattttc ttgtatacat ttgaggtcaa
     3721 agaacacttc aggaaaaaaa ctcaacaaag tattaaaatt agctgataac acagcttttg
     3781 tatttgtgtg ttttagtaat ccagcttgtt ttagaatagt tcagtgcaaa aagcaaatgg
     3841 tgcaagagga gttgatgtgt atttagacgt aaaagcattt aacagaatga ataactatag
     3901 aaagtatgag aaaagagaac gaactacgtc tcaggtataa gattgcagtt actgatttag
     3961 acaccatagg attagggatg tgggggcctc tgatgttgat tctgcttccc ctggtcagtt
     4021 tattttacgt ataagttacc cttgtgttca aacacaaaat tgacattatt catgaaggac
     4081 tgctttctta atcagatatt aagaagttcg tcatgtattt tgggagcacg tttgctacag
     4141 cctgtgtggc aagggcgaat gcacttggtt tgttggaata acctgattta tcaaacattt
     4201 atcaagtatg ggtcatgtgt tctctatttg tgttagtgga gctacata
//
