LOCUS       NM_001306158            2141 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens RAB, member of RAS oncogene family like 2A (RABL2A),
            transcript variant 3, mRNA.
ACCESSION   NM_001306158 XM_005263575
VERSION     NM_001306158.2
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 2141)
  AUTHORS   Boegholm,N., Petriman,N.A., Tanvir,N.M. and Lorentzen,E.
  TITLE     Architecture of RabL2-associated complexes at the ciliary base: A
            structural modeling perspective: Deciphering the structural
            organization of ciliary RabL2 complexes
  JOURNAL   Bioessays 46 (9), e2300222 (2024)
   PUBMED   38991980
  REMARK    GeneRIF: Architecture of RabL2-associated complexes at the ciliary
            base: A structural modeling perspective: Deciphering the structural
            organization of ciliary RabL2 complexes.
REFERENCE   2  (bases 1 to 2141)
  AUTHORS   Zhou,M., Chen,X., Bai,H., Sun,Y., Zhang,Z., Li,S., Wang,X. and
            Zeng,M.
  TITLE     RABL2A-CCDC34 Axis Promotes Sorafenib Resistance in Hepatocellular
            Carcinoma
  JOURNAL   DNA Cell Biol 40 (11), 1418-1427 (2021)
   PUBMED   34767735
  REMARK    GeneRIF: RABL2A-CCDC34 Axis Promotes Sorafenib Resistance in
            Hepatocellular Carcinoma.
REFERENCE   3  (bases 1 to 2141)
  AUTHORS   Ding,X., Fragoza,R., Singh,P., Zhang,S., Yu,H. and Schimenti,J.C.
  TITLE     Variants in RABL2A causing male infertility and ciliopathy
  JOURNAL   Hum Mol Genet 29 (20), 3402-3411 (2020)
   PUBMED   33075816
  REMARK    GeneRIF: Variants in RABL2A causing male infertility and
            ciliopathy.
REFERENCE   4  (bases 1 to 2141)
  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  (bases 1 to 2141)
  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   6  (bases 1 to 2141)
  AUTHORS   Jamsai,D., Lo,J.C., McLachlan,R.I. and O'Bryan,M.K.
  TITLE     Genetic variants in the RABL2A gene in fertile and
            oligoasthenospermic infertile men
  JOURNAL   Fertil Steril 102 (1), 223-229 (2014)
   PUBMED   24825419
  REMARK    GeneRIF: Suggest the 114391996 delC allele in the RABL2A gene may
            act as a risk factor for oligoasthenospermic infertility in
            Australian men.
REFERENCE   7  (bases 1 to 2141)
  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   8  (bases 1 to 2141)
  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   9  (bases 1 to 2141)
  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
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BI552699.1, HY023006.1,
            HY075940.1, CR456554.1, AK092971.1 and CA427898.1.
            
            On Jun 2, 2019 this sequence version replaced NM_001306158.1.
            
            Summary: This gene is a member of the RAB gene family which belongs
            to the RAS GTPase superfamily. The proteins in the family of
            RAS-related signaling molecules are small GTP-binding proteins that
            play important roles in the regulation of exocytotic and
            endocytotic pathways. This gene maps to the site of an ancestral
            telomere fusion event and may be a subtelomeric gene. Alternative
            splicing results in multiple transcript variants encoding different
            isoforms. [provided by RefSeq, Apr 2015].
            
            Transcript Variant: This variant (3) encodes isoform 3. Variants 3,
            4, and 13-15 all encode the same isoform (2).
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803615.5530.1,
                                           SRR1803612.187063.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000683472.1/ ENSP00000507832.1
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-6                 BI552699.1         43-48
            7-21                HY023006.1         1-15
            22-135              HY075940.1         52-165
            136-1019            CR456554.1         8-891
            1020-1616           AK092971.1         1786-2382
            1617-2141           CA427898.1         16-540              c
FEATURES             Location/Qualifiers
     source          1..2141
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q14.1"
     gene            1..2141
                     /gene="RABL2A"
                     /note="RAB, member of RAS oncogene family like 2A"
                     /db_xref="GeneID:11159"
                     /db_xref="HGNC:HGNC:9799"
                     /db_xref="MIM:605412"
     exon            1..135
                     /gene="RABL2A"
                     /inference="alignment:Splign:2.1.0"
     exon            136..295
                     /gene="RABL2A"
                     /inference="alignment:Splign:2.1.0"
     CDS             189..878
                     /gene="RABL2A"
                     /note="isoform 2 is encoded by transcript variant 3;
                     RAB-like protein 2A"
                     /codon_start=1
                     /product="rab-like protein 2A isoform 2"
                     /protein_id="NP_001293087.1"
                     /db_xref="CCDS:CCDS77454.1"
                     /db_xref="GeneID:11159"
                     /db_xref="HGNC:HGNC:9799"
                     /db_xref="MIM:605412"
                     /translation="MAEDKTKPSELDQGKYDADDNVKIICLGDSAVGKSKLMERFLMD
                     GFQPQQLSTYALTLYKHTATVDGKTILVDFWDTAGQERFQSMHASYYHKAHACIMVFD
                     IQRKVTYRNLSTWYTELREFRPEIPCIVVANKIDADINVTQKSFNFAKKFSLPLYFVS
                     AADGTNVVKLFNDAIRLAVSYKQNSQDFMDEIFQELENFSLEQEEEDVPDQEQSSSIE
                     TPSEEVASPHS"
     exon            296..325
                     /gene="RABL2A"
                     /inference="alignment:Splign:2.1.0"
     exon            326..405
                     /gene="RABL2A"
                     /inference="alignment:Splign:2.1.0"
     exon            406..485
                     /gene="RABL2A"
                     /inference="alignment:Splign:2.1.0"
     exon            486..597
                     /gene="RABL2A"
                     /inference="alignment:Splign:2.1.0"
     exon            598..695
                     /gene="RABL2A"
                     /inference="alignment:Splign:2.1.0"
     exon            696..779
                     /gene="RABL2A"
                     /inference="alignment:Splign:2.1.0"
     exon            780..2141
                     /gene="RABL2A"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2120..2125
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RABL2A"
                     /note="hexamer: AGTAAA"
     polyA_site      2141
                     /gene="RABL2A"
                     /note="major polyA site"
ORIGIN      
        1 ggaagtggag tgcgctgcgg tgcgagctgg gccggcgggg tggttcgaga gcgcgcagag
       61 tccagactgg cggcagggcc cgaggggccg acccgcagcg tccctggtct ctccagccct
      121 cactcggaac cgcactgaca ataccctccc ctcccttggg ctggacccct ctctacagct
      181 aggagccaat ggcagaagac aaaaccaaac cgagtgagtt ggaccaaggg aagtatgatg
      241 ctgatgacaa cgtgaagatc atctgcctgg gagacagcgc agtgggcaaa tccaaactca
      301 tggagagatt tctcatggat ggctttcagc cacagcagct gtccacgtac gccctgaccc
      361 tgtacaagca cacagccacg gtagatggca agaccatcct tgtggacttt tgggacacgg
      421 caggccagga gcggttccag agcatgcatg cctcctacta ccacaaggcc catgcctgca
      481 tcatggtgtt tgatatacag aggaaagtca cctataggaa cctgagcacc tggtatacag
      541 agcttcggga gttcaggcca gagatcccat gcatcgtggt ggccaataaa attgatgcag
      601 acataaacgt gacccaaaaa agcttcaatt ttgccaagaa gttctccctg cccctgtatt
      661 tcgtctcggc tgctgatggt accaatgttg tgaagctctt caatgatgca attcgattag
      721 ctgtgtctta caaacagaac tcccaggact tcatggatga gatttttcag gagctcgaga
      781 acttcagctt ggagcaggaa gaggaggacg tgccagacca ggaacagagc agcagcatcg
      841 agaccccatc agaggaggtg gcctctcccc acagctgagg ggctggggct aggggtgggt
      901 ggagcccttt taaaataccc ttcccttcaa caactctcca gctctgaatg gagaaactct
      961 ctaggccatc ccctcttcta cctcctgcaa cccacccatc ctattagcct cccacattca
     1021 aggcccgtga tacagggatg aggtcagcac cagcaaactc tggactggtg gaagaattcc
     1081 ccaccagatc tccttgaagc agaattaggg atcagcatca ttaacacctt ccccaccccc
     1141 tccccccagg cagacagtga agagaatcag aaaacatgat tatgtgtcac tttaatacag
     1201 gaaatttagg tgttttttgg tgtttttgtt tttgttttct ttccaaagct cacctcgggg
     1261 acaattcctt gggcttctcc tgaggtaatg attacccccc cacccacagc tgagtctgtg
     1321 aggccccatc ctttccctac gttttctccc atcttttttc ctcttcaatc tcccagtcat
     1381 ctggtttgtt tgtttctttg ttcgtcctga gacggagtct cgctctgtcg ccaggctgga
     1441 gtgcagtggc gcagtctcgg ctcgctgcaa cctctgactc cctggttcaa acgattctcc
     1501 tgcctcagcc tcccgagtgg ctggcatcac cacgcccagc taatttttgt atttttagta
     1561 gagacggggt ttcaccatgt tgcccaggat ggtctcgatc tcctcacctc gtgatccgcc
     1621 cgcctcggcc tcccaaagtg ctgggattac aggcatgagc caccgcgccc ggccccaatc
     1681 atctgttttt aaacaatcgt ttttgagcag atagctattc attccagatt tccgtgtacc
     1741 cactctgttt caggagctct tctaggtaaa gctgagatca caggaacagc aggtgacagg
     1801 cctagctata gttaggaata cacaagcggt aaaatcgagt ccttacagcc ataccacaag
     1861 gtacgtccat ttggactaca agaagagctt cctttaaagt tcctatttca gcataaagag
     1921 gctgtccttt ttttttagga atagtttgga ccttgtgcct cctgtgggag gctgaggact
     1981 gcaagaggag agctagcaga tatgcctgtt cacccctctc tggtacttgt ggcttgctag
     2041 tatgttttta tgataatctc gggcattgtt tgcattgtgt ttattaatag ggttttgttt
     2101 ttattgtttc cttttttaca gtaaaggctg aatgacataa a
//
