LOCUS       NM_001130919            2149 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens RAB, member of RAS oncogene family like 2B (RABL2B),
            transcript variant 3, mRNA.
ACCESSION   NM_001130919
VERSION     NM_001130919.3
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 2149)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (bases 1 to 2149)
  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   3  (bases 1 to 2149)
  AUTHORS   Dateyama,I., Sugihara,Y., Chiba,S., Ota,R., Nakagawa,R.,
            Kobayashi,T. and Itoh,H.
  TITLE     RABL2 positively controls localization of GPCRs in mammalian
            primary cilia
  JOURNAL   J Cell Sci 132 (2) (2019)
   PUBMED   30578315
  REMARK    GeneRIF: RABL2 controls localization of GPR161 independently of
            TULP3, which promotes entry of ciliary GPCRs.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2149)
  AUTHORS   Kanie,T., Abbott,K.L., Mooney,N.A., Plowey,E.D., Demeter,J. and
            Jackson,P.K.
  TITLE     The CEP19-RABL2 GTPase Complex Binds IFT-B to Initiate
            Intraflagellar Transport at the Ciliary Base
  JOURNAL   Dev Cell 42 (1), 22-36 (2017)
   PUBMED   28625565
  REMARK    GeneRIF: CEP19 is recruited to the ciliary base by the centriolar
            CEP350/FOP complex and then specifically captures GTP-bound RABL2B,
            which is activated via its intrinsic nucleotide exchange.
REFERENCE   5  (bases 1 to 2149)
  AUTHORS   Nishijima,Y., Hagiya,Y., Kubo,T., Takei,R., Katoh,Y. and
            Nakayama,K.
  TITLE     RABL2 interacts with the intraflagellar transport-B complex and
            CEP19 and participates in ciliary assembly
  JOURNAL   Mol Biol Cell 28 (12), 1652-1666 (2017)
   PUBMED   28428259
REFERENCE   6  (bases 1 to 2149)
  AUTHORS   Kramer,M., Backhaus,O., Rosenstiel,P., Horn,D., Klopocki,E.,
            Birkenmeier,G., Schreiber,S., Platzer,M., Hampe,J. and Huse,K.
  TITLE     Analysis of relative gene dosage and expression differences of the
            paralogs RABL2A and RABL2B by Pyrosequencing
  JOURNAL   Gene 455 (1-2), 1-7 (2010)
   PUBMED   20138207
  REMARK    GeneRIF: In human samples no deviations of the euploid genomic
            state could be detected indicating that 22q13 microdeletions
            involving RABL2B are rare.
REFERENCE   7  (bases 1 to 2149)
  AUTHORS   Collins,J.E., Wright,C.L., Edwards,C.A., Davis,M.P., Grinham,J.A.,
            Cole,C.G., Goward,M.E., Aguado,B., Mallya,M., Mokrab,Y.,
            Huckle,E.J., Beare,D.M. and Dunham,I.
  TITLE     A genome annotation-driven approach to cloning the human ORFeome
  JOURNAL   Genome Biol 5 (10), R84 (2004)
   PUBMED   15461802
REFERENCE   8  (bases 1 to 2149)
  AUTHORS   Dunham,I., Shimizu,N., Roe,B.A., Chissoe,S., Hunt,A.R.,
            Collins,J.E., Bruskiewich,R., Beare,D.M., Clamp,M., Smink,L.J.,
            Ainscough,R., Almeida,J.P., Babbage,A., Bagguley,C., Bailey,J.,
            Barlow,K., Bates,K.N., Beasley,O., Bird,C.P., Blakey,S.,
            Bridgeman,A.M., Buck,D., Burgess,J., Burrill,W.D., O'Brien,K.P. et
            al.
  TITLE     The DNA sequence of human chromosome 22
  JOURNAL   Nature 402 (6761), 489-495 (1999)
   PUBMED   10591208
  REMARK    Erratum:[Nature 2000 Apr 20;404(6780):904]
REFERENCE   9  (bases 1 to 2149)
  AUTHORS   Wong,A.C., Shkolny,D., Dorman,A., Willingham,D., Roe,B.A. and
            McDermid,H.E.
  TITLE     Two novel human RAB genes with near identical sequence each map to
            a telomere-associated region: the subtelomeric region of 22q13.3
            and the ancestral telomere band 2q13
  JOURNAL   Genomics 59 (3), 326-334 (1999)
   PUBMED   10444334
REFERENCE   10 (bases 1 to 2149)
  AUTHORS   Adams,M.D., Kerlavage,A.R., Fleischmann,R.D., Fuldner,R.A.,
            Bult,C.J., Lee,N.H., Kirkness,E.F., Weinstock,K.G., Gocayne,J.D.,
            White,O. et al.
  TITLE     Initial assessment of human gene diversity and expression patterns
            based upon 83 million nucleotides of cDNA sequence
  JOURNAL   Nature 377 (6547 Suppl), 3-174 (1995)
   PUBMED   7566098
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK308268.1, AC002055.2 and
            BC024281.1.
            
            On Jun 2, 2019 this sequence version replaced NM_001130919.2.
            
            Summary: The RABL2B protein is a member of the RAB gene family
            which belongs to the RAS GTPase superfamily. RABL2B is located
            within a subtelomeric region of 22q13.3. Multiple alternatively
            spliced transcript variants encoding several different isoforms
            have been found for this gene. [provided by RefSeq, Aug 2008].
            
            Transcript Variant: This variant (3) has multiple differences in
            the 5' UTR and coding sequence compared to variant 7. The resulting
            isoform (1) has the same N- and C-termini but is shorter compared
            to isoform 3. Variants 1, 3, 4, 5, 8, and 9 all encode the same
            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 :: SRR18074969.3181166.1,
                                           SRR14243140.8893020.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000691320.1/ ENSP00000509250.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-89                AK308268.1         1-89
            90-90               AC002055.2         18622-18622         c
            91-534              AK308268.1         91-534
            535-2149            BC024281.1         760-2374
FEATURES             Location/Qualifiers
     source          1..2149
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q13.33"
     gene            1..2149
                     /gene="RABL2B"
                     /note="RAB, member of RAS oncogene family like 2B"
                     /db_xref="GeneID:11158"
                     /db_xref="HGNC:HGNC:9800"
                     /db_xref="MIM:605413"
     exon            1..136
                     /gene="RABL2B"
                     /inference="alignment:Splign:2.1.0"
     exon            137..296
                     /gene="RABL2B"
                     /inference="alignment:Splign:2.1.0"
     CDS             190..879
                     /gene="RABL2B"
                     /note="isoform 1 is encoded by transcript variant 3;
                     RAB-like protein 2B"
                     /codon_start=1
                     /product="rab-like protein 2B isoform 1"
                     /protein_id="NP_001124391.1"
                     /db_xref="CCDS:CCDS33683.1"
                     /db_xref="GeneID:11158"
                     /db_xref="HGNC:HGNC:9800"
                     /db_xref="MIM:605413"
                     /translation="MAEDKTKPSELDQGKYDADDNVKIICLGDSAVGKSKLMERFLMD
                     GFQPQQLSTYALTLYKHTATVDGRTILVDFWDTAGQERFQSMHASYYHKAHACIMVFD
                     VQRKVTYRNLSTWYTELREFRPEIPCIVVANKIDADINVTQKSFNFAKKFSLPLYFVS
                     AADGTNVVKLFNDAIRLAVSYKQNSQDFMDEIFQELENFSLEQEEEDVPDQEQSSSIE
                     TPSEEAASPHS"
     exon            297..326
                     /gene="RABL2B"
                     /inference="alignment:Splign:2.1.0"
     exon            327..406
                     /gene="RABL2B"
                     /inference="alignment:Splign:2.1.0"
     exon            407..486
                     /gene="RABL2B"
                     /inference="alignment:Splign:2.1.0"
     exon            487..598
                     /gene="RABL2B"
                     /inference="alignment:Splign:2.1.0"
     exon            599..696
                     /gene="RABL2B"
                     /inference="alignment:Splign:2.1.0"
     exon            697..780
                     /gene="RABL2B"
                     /inference="alignment:Splign:2.1.0"
     exon            781..2149
                     /gene="RABL2B"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2128..2133
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RABL2B"
                     /note="hexamer: AGTAAA"
     polyA_site      2149
                     /gene="RABL2B"
                     /note="major polyA site"
ORIGIN      
        1 ggaagtggag tgcgctgcgg cgcgagctgg gccggcgggc gtggttcgag agcgcgcaga
       61 gtccagactg gcggcagggc ccgaggggcc gacccgcagc gtccctggtc tctccagccc
      121 tcactcggaa ccgcactgac aataccctcc cctcccttgg gctggacccc tctctacagc
      181 taggagccaa tggcagaaga caaaaccaaa ccgagtgagt tggaccaagg gaagtatgat
      241 gctgatgaca acgtgaagat catctgcctg ggagacagcg cagtgggcaa atccaaactc
      301 atggagagat ttctcatgga tggctttcag ccacagcagc tgtccacgta cgccctgacc
      361 ctgtacaagc acacagccac ggtagatgga aggaccatcc ttgtggactt ttgggacacg
      421 gcaggccagg agcggttcca gagcatgcat gcctcctact accacaaggc ccacgcctgc
      481 atcatggtgt ttgatgtaca gaggaaagtc acctatagga acctgagcac ctggtataca
      541 gagcttcggg agttcaggcc agagatccca tgcatcgtgg tggccaataa aattgatgca
      601 gacataaacg tgacccaaaa aagcttcaat tttgccaaga agttctccct gcccctgtat
      661 ttcgtctcgg ctgctgatgg taccaatgtt gtgaagctct tcaatgatgc aattcgatta
      721 gctgtgtctt acaaacagaa ctcccaggac ttcatggatg agatttttca ggagctcgag
      781 aacttcagct tggagcagga agaggaggac gtgccagacc aggaacagag cagcagcatc
      841 gagaccccat cagaggaggc ggcctctccc cacagctgag gggctggggc taggggtggg
      901 tggagccctt ttaaaatacc cttcccttca acaactctcc agctctgaat ggagaaactc
      961 tctaggccat cccctcttct acctcctgca acccacccat cctattagcc tcccacattc
     1021 taggcccgtg atacagggat gaggtcagca ccagcaaact ctggactggt ggaagaattc
     1081 cccaccagat ctccttgaag cagaagtagg gatcagcatc attaacacct tccccacccc
     1141 ctccccgcag gcagacagtg aagagaatca gaaaacatga ttatgtgtca ctttaataca
     1201 ggaaatttag gtgttttttg gtgtttttgt ttttgttttt gttttctttc caaagctcac
     1261 ctcggggaca attccttggg cttctcctga ggtaatgatt taccccccca cccacagctg
     1321 agtctgtgag gccccatcct ttccctacgt tttctcccat cttttttcct cttcagtctc
     1381 ccagtcatct ggtttgtttg tttctttgtt cgttctgaga cggagtctcg ctctgtcgcc
     1441 aggctggagt gcagtggcgc agtctcggct cgctgcaacc tctgactccc tggttcaaac
     1501 gattctcctg cctcagcctc ccgagtggct ggcatcacca cgcccagcta atttttgtat
     1561 ttttagtaga gacggggttt caccatgttg cccaggatgg tctcgatctc ctcacctcgt
     1621 gatccgcccg cctcggcctc ccaaagtgct gggattacag gcatgagcca ccgcgcccgg
     1681 ccccaatcat ctgtttttaa acaatcgttt ttgagcagat agctattcat tccagatttt
     1741 cgtgtaccca ttctgtttca ggagctcttc taggtaaagc tgagatcaca ggaacagcag
     1801 gtgacaggcc tagctatagt taggaataca caagccgtaa aatcgagtcc ttacagccat
     1861 accacaaggt acgtccattt ggactacaag aagagcttcc tttaaagttc ctatttcagc
     1921 ataaagaggc tgtccttttt tttgaggaat agtttggacc ttgtgcctcc tgtgggaggc
     1981 tgaggactgc aagaggagag ctagcagata tgcctgttca cccctctctg gtacttgtgg
     2041 cttgctagta tgtttttatg ataatctcgg gcattgtttg cattgtgttt attaataggg
     2101 ttttgttttt gttgtttcct tttttacagt aaaggctgaa ttacataaa
//
