LOCUS       NM_171998               3413 bp    mRNA    linear   PRI 04-OCT-2024
DEFINITION  Homo sapiens RAB39B, member RAS oncogene family (RAB39B), mRNA.
ACCESSION   NM_171998
VERSION     NM_171998.4
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 3413)
  AUTHORS   Dayan,R., Shkedi Rafid,S., Baker Erdman,H., Weill,C., Shag,A.,
            Meiner,V. and Arkadir,D.
  TITLE     Novel RAB39B Mutation Causes Parkinsonism in Males with
            Developmental Disorder
  JOURNAL   Mov Disord Clin Pract 11 (3), 306-308 (2024)
   PUBMED   38293822
  REMARK    GeneRIF: Novel RAB39B Mutation Causes Parkinsonism in Males with
            Developmental Disorder.
REFERENCE   2  (bases 1 to 3413)
  AUTHORS   Chiu,C.C., Weng,Y.H., Yeh,T.H., Lu,J.C., Chen,W.S., Li,A.H.,
            Chen,Y.L., Wei,K.C. and Wang,H.L.
  TITLE     Deficiency of RAB39B Activates ER Stress-Induced Pro-apoptotic
            Pathway and Causes Mitochondrial Dysfunction and Oxidative Stress
            in Dopaminergic Neurons by Impairing Autophagy and Upregulating
            alpha-Synuclein
  JOURNAL   Mol Neurobiol 60 (5), 2706-2728 (2023)
   PUBMED   36715921
  REMARK    GeneRIF: Deficiency of RAB39B Activates ER Stress-Induced
            Pro-apoptotic Pathway and Causes Mitochondrial Dysfunction and
            Oxidative Stress in Dopaminergic Neurons by Impairing Autophagy and
            Upregulating alpha-Synuclein.
REFERENCE   3  (bases 1 to 3413)
  AUTHORS   Mignogna,M.L., Ficarella,R., Gelmini,S., Marzulli,L., Ponzi,E.,
            Gabellone,A., Peschechera,A., Alessio,M., Margari,L., Gentile,M.
            and D'Adamo,P.
  TITLE     Clinical characterization of a novel RAB39B nonstop mutation in a
            family with ASD and severe ID causing RAB39B downregulation and
            study of a Rab39b knock down mouse model
  JOURNAL   Hum Mol Genet 31 (9), 1389-1406 (2022)
   PUBMED   34761259
  REMARK    GeneRIF: Clinical characterization of a novel RAB39B nonstop
            mutation in a family with ASD and severe ID causing RAB39B
            downregulation and study of a Rab39b knock down mouse model.
REFERENCE   4  (bases 1 to 3413)
  AUTHORS   Koss,D.J., Bondarevaite,O., Adams,S., Leite,M., Giorgini,F.,
            Attems,J. and Outeiro,T.F.
  TITLE     RAB39B is redistributed in dementia with Lewy bodies and is
            sequestered within abeta plaques and Lewy bodies
  JOURNAL   Brain Pathol 31 (1), 120-132 (2021)
   PUBMED   32762091
  REMARK    GeneRIF: RAB39B is redistributed in dementia with Lewy bodies and
            is sequestered within abeta plaques and Lewy bodies.
REFERENCE   5  (bases 1 to 3413)
  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 3413)
  AUTHORS   Kennedy,K.D., AnithaChristy,S.A., Buie,L.K. and Borras,T.
  TITLE     Cystatin a, a potential common link for mutant myocilin causative
            glaucoma
  JOURNAL   PLoS One 7 (5), e36301 (2012)
   PUBMED   22615763
REFERENCE   7  (bases 1 to 3413)
  AUTHORS   Giannandrea,M., Bianchi,V., Mignogna,M.L., Sirri,A., Carrabino,S.,
            D'Elia,E., Vecellio,M., Russo,S., Cogliati,F., Larizza,L.,
            Ropers,H.H., Tzschach,A., Kalscheuer,V., Oehl-Jaschkowitz,B.,
            Skinner,C., Schwartz,C.E., Gecz,J., Van Esch,H., Raynaud,M.,
            Chelly,J., de Brouwer,A.P., Toniolo,D. and D'Adamo,P.
  TITLE     Mutations in the small GTPase gene RAB39B are responsible for
            X-linked mental retardation associated with autism, epilepsy, and
            macrocephaly
  JOURNAL   Am J Hum Genet 86 (2), 185-195 (2010)
   PUBMED   20159109
  REMARK    GeneRIF: These results demonstrate developmental and functional
            neuronal alteration as a consequence of downregulation of RAB39B
            and emphasize the critical role of vesicular trafficking in the
            development of neurons and human intellectual abilities.
REFERENCE   8  (bases 1 to 3413)
  AUTHORS   Cheng,H., Ma,Y., Ni,X., Jiang,M., Guo,L., Ying,K., Xie,Y. and
            Mao,Y.
  TITLE     Isolation and characterization of a human novel RAB (RAB39B) gene
  JOURNAL   Cytogenet Genome Res 97 (1-2), 72-75 (2002)
   PUBMED   12438742
  REMARK    GeneRIF: RAB39B was expressed in a variety of human tissues and
            located in human chromosome Xq28.
REFERENCE   9  (bases 1 to 3413)
  AUTHORS   Russo,S., Cogliati,F., Cavalleri,F., Cassitto,M.G., Giglioli,R.,
            Toniolo,D., Casari,G. and Larizza,L.
  TITLE     Mapping to distal Xq28 of nonspecific X-linked mental retardation
            MRX72: linkage analysis and clinical findings in a three-generation
            Sardinian family
  JOURNAL   Am J Med Genet 94 (5), 376-382 (2000)
   PUBMED   11050621
REFERENCE   10 (bases 1 to 3413)
  AUTHORS   Ballout,R.A., El-Hattab,A.W., Schaaf,C.P. and Cheung,S.W.
  TITLE     Xq28 Duplication Syndrome, Int22h1/Int22h2 Mediated
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   26962617
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC009714.1, AL834460.1,
            BM721593.1 and H30898.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_171998.3.
            
            Summary: This gene encodes a member of the Rab family of proteins.
            Rab proteins are small GTPases that are involved in vesicular
            trafficking. Mutations in this gene are associated with X-linked
            cognitive disability. [provided by RefSeq, Aug 2013].
            
            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 :: SRR1660807.93953.1,
                                           SRR1803612.57940.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000369454.4/ ENSP00000358466.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-921               BC009714.1         99-1019
            922-2466            AL834460.1         883-2427
            2467-2657           BM721593.1         194-384
            2658-3407           AL834460.1         2620-3369
            3408-3413           H30898.1           2-7                 c
FEATURES             Location/Qualifiers
     source          1..3413
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq28"
     gene            1..3413
                     /gene="RAB39B"
                     /gene_synonym="BGMR; MRX72; WSMN; WSN; XLID72"
                     /note="RAB39B, member RAS oncogene family"
                     /db_xref="GeneID:116442"
                     /db_xref="HGNC:HGNC:16499"
                     /db_xref="MIM:300774"
     exon            1..418
                     /gene="RAB39B"
                     /gene_synonym="BGMR; MRX72; WSMN; WSN; XLID72"
                     /inference="alignment:Splign:2.1.0"
     CDS             204..845
                     /gene="RAB39B"
                     /gene_synonym="BGMR; MRX72; WSMN; WSN; XLID72"
                     /note="Waisman syndrome"
                     /codon_start=1
                     /product="ras-related protein Rab-39B"
                     /protein_id="NP_741995.1"
                     /db_xref="CCDS:CCDS14766.1"
                     /db_xref="GeneID:116442"
                     /db_xref="HGNC:HGNC:16499"
                     /db_xref="MIM:300774"
                     /translation="MEAIWLYQFRLIVIGDSTVGKSCLIRRFTEGRFAQVSDPTVGVD
                     FFSRLVEIEPGKRIKLQIWDTAGQERFRSITRAYYRNSVGGLLLFDITNRRSFQNVHE
                     WLEETKVHVQPYQIVFVLVGHKCDLDTQRQVTRHEAEKLAAAYGMKYIETSARDAINV
                     EKAFTDLTRDIYELVKRGEITIQEGWEGVKSGFVPNVVHSSEEVVKSERRCLC"
     exon            419..3413
                     /gene="RAB39B"
                     /gene_synonym="BGMR; MRX72; WSMN; WSN; XLID72"
                     /inference="alignment:Splign:2.1.0"
     regulatory      904..909
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RAB39B"
                     /gene_synonym="BGMR; MRX72; WSMN; WSN; XLID72"
                     /note="hexamer: AATAGA"
     polyA_site      925
                     /gene="RAB39B"
                     /gene_synonym="BGMR; MRX72; WSMN; WSN; XLID72"
                     /note="major polyA site"
     regulatory      3284..3289
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RAB39B"
                     /gene_synonym="BGMR; MRX72; WSMN; WSN; XLID72"
                     /note="hexamer: AATAAA"
     polyA_site      3311
                     /gene="RAB39B"
                     /gene_synonym="BGMR; MRX72; WSMN; WSN; XLID72"
                     /note="major polyA site"
     regulatory      3386..3391
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RAB39B"
                     /gene_synonym="BGMR; MRX72; WSMN; WSN; XLID72"
                     /note="hexamer: AGTAAA"
     polyA_site      3413
                     /gene="RAB39B"
                     /gene_synonym="BGMR; MRX72; WSMN; WSN; XLID72"
                     /note="major polyA site"
ORIGIN      
        1 gctgccattt catcaccttt gcgagcgcag catccatccc tccgctctcc cggcgcctgg
       61 gcctacccag cttcgggctc ccaggccagc gatgcgctcg cggctgagct agatcctgcc
      121 gagccgcgct ctctgaggcg tcggcggggc gccccctccc gccgtccccg gtccgggcca
      181 aggagacctg cagagccgcg gccatggagg ccatctggct gtaccagttc cggctcattg
      241 tcatcgggga ttccacagtg ggcaagtcct gcctgatccg ccgcttcacc gagggtcgct
      301 ttgcccaggt ttctgacccc accgtggggg tggatttttt ctcccgcttg gtggagatcg
      361 agccaggaaa acgcatcaag ctccagatct gggataccgc gggtcaagag aggttcagat
      421 ccatcactcg cgcctactac aggaactcag taggtggtct tctcttattt gacattacca
      481 accgcaggtc cttccagaat gtccatgagt ggttagaaga gaccaaagta cacgttcagc
      541 cctaccaaat tgtatttgtt ctggtgggtc acaagtgtga cctggataca cagaggcaag
      601 tgactcgcca cgaggccgag aaactggctg ctgcatacgg catgaagtac attgaaacgt
      661 cagcccgaga tgccattaat gtggagaaag ccttcacaga cctgacaaga gacatatatg
      721 agctggttaa aaggggggag attacaatcc aggagggctg ggaaggggtg aagagtggat
      781 ttgtaccaaa tgtggttcac tcttcagaag aggttgtcaa atcagagagg agatgtttgt
      841 gctagtcagt tcttttattt ccaaaacatg ctctcctact tgaactgaaa agtaagagaa
      901 ataaatagaa tctttgtgta actgatgaga actcaacctc catttggata ccaagtgagc
      961 ctccctctca gggggactct gacagactcg tgtgcgggtg gatgggggtg cctgagtgct
     1021 gtgaccaagg gactgaattg ctgacatggg ccaggccagg cactgttttg tggcccatgc
     1081 taggcagtgg ctgctccatg agccctttgt ggaccacatg ttaaaggcct ggggtttagg
     1141 aagctaagtc ccaggaaaac atacctacag acaggacaac tgttccttgg tatttgagct
     1201 cacttatagg ccatgaacat aaagaaatac ataaagggga aaaaagtttc acaatgggga
     1261 caattagcat aactaaacaa agattatgag ctctacttat tccgtgagaa taccctgcac
     1321 caaaggtgtt tgctgggttt ggttaaaagg taccaattag cttttaacag ctttctgtaa
     1381 aatgaggaac acagaccaaa aggtctggtg ttcaagtaaa aatgatgtga ctatggaaag
     1441 gaaggcaatc gacacagtta ttagcacatt tcagaaaatg aacacccttg tgatagaatt
     1501 accagctgta tgaaacaaat tgtcccatgc aaattaccct ataactagga aagagacact
     1561 ataacccaaa tgccataccc cctttttcct ttgaccatgc ctggggtttc aatgccttgg
     1621 cacctgcaat ctggaagtaa acagtctgct tgcttcttca ggcacgtgac agtgacaaca
     1681 cagtgactgc ctctgaaaag agccctgagg caaacactct ctcctgctga acaggaggca
     1741 ctgtaaccct tacaaacagc ttacagttac ttgggctact tatttgatca tcataacagg
     1801 cctacgaggt ttttgcccca ttttacagaa tagtaaacta agagccatga aaatcacttg
     1861 gccagggtca aggactcgtg actcctagct cttttcactg catcatactg ctgtcagatg
     1921 aataaatgat tatgaatttg tttacttggg aagagatatg actataaata aatgttctct
     1981 acatgttagg atatgttttc cttattgatt acaactcagc tataatcctg agggaacatg
     2041 ggaaggaatc aaaggtaaag cccattcagg cattattgac aagagggctt taaacaagtg
     2101 aataattgca caactaaaaa gacattagaa ctgtgtgggc tataagtgtt cttatcactg
     2161 agacacagtg gatttttatt gaaaggaacc acgtacagca atgcggagtg ggatagggat
     2221 aaaataccca ccccaaaatg accttggcca cctgtctgcc atatacgtac actgagttcc
     2281 tgtctaccca agagagtcag cccttaattc tcaggtgaac aaacagctaa ctgcatcagc
     2341 aaattggaat ggctggcttg aagtttccat tattttcttg aagagaggtg atgctttaaa
     2401 ttactttttg gattgtagcc agttcagcta ggcaaaagcc atacttttca caattaaaaa
     2461 aaaaaactat tctgactaga gtcaggtttc tcatatccat tgtgatagga aggcctaaga
     2521 atggcaaatc gctttgagat ataatattga acttcagtat gaatgtgacc gaatctgaaa
     2581 ctttgggaat ttgctttagc cagaataaag aaaccaaatc atgaaaatta tggaagacta
     2641 ttctgccacc tgtgccccaa gttggatgag caaaccactt tggatcagtt cacagcatta
     2701 actacaagtg aactgatcat cttctctata ttcatttcac aagagctggc ttaggtgggg
     2761 taattaaatt gccaccttcg tggttgtaaa agacaaacaa aacatggcaa atttcattaa
     2821 cacaaaattt catcaactgc tatactgaat tatgtttaga agattctgaa agcaagatta
     2881 tccagtgggt aaatgagagt cgactggatt ctgtcagttc aaaaaaggaa agaaacaaaa
     2941 cttccctaca attttcttca ctaaaattta ttatatgtac agtattccca ctcctggcat
     3001 tttctggcag gtttaaaaat attcagcata aatccagcag aggtggctga gcttaattgc
     3061 ttaaataagt tctagaaaat ttaaaaatca ttttagtaga attcagtacc attgtcactg
     3121 caataagtgg gttttagaaa ataagtgtga aaagaatcag gtgttaatat aatactaagg
     3181 ataaagcttt agaagctatt ttactacata ggtaaagaaa agataaacta acttgtaaca
     3241 aagaccacaa ctgcatgttg gattagattg tctcatattt cagaataaaa tgtactgtat
     3301 acttttcctc actttgttgt gcactgtaat gaaatgtgaa aaatgcttta tttagctgta
     3361 tgtgaatgaa aatatgcttg tatttagtaa aatgattgat tatgtgactg tga
//
