LOCUS       NM_001017979            1690 bp    mRNA    linear   PRI 05-APR-2024
DEFINITION  Homo sapiens RAB28, member RAS oncogene family (RAB28), transcript
            variant 1, mRNA.
ACCESSION   NM_001017979
VERSION     NM_001017979.3
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 1690)
  AUTHORS   Sirlier Emir,B., Yildiz,S., Kazgan Kilicaslan,A., Kilic,F.,
            Ugur,K., Aydin,S. and Atmaca,M.
  TITLE     The roles of Klotho and FGF-23 in bipolar manic episode
  JOURNAL   Eur Rev Med Pharmacol Sci 27 (5 Suppl), 101-108 (2023)
   PUBMED   37869955
  REMARK    GeneRIF: The roles of Klotho and FGF-23 in bipolar manic episode.
REFERENCE   2  (bases 1 to 1690)
  AUTHORS   Iarossi,G., Marino,V., Maltese,P.E., Colombo,L., D'Esposito,F.,
            Manara,E., Dhuli,K., Modarelli,A.M., Cennamo,G., Magli,A.,
            Dell'Orco,D. and Bertelli,M.
  TITLE     Expanding the Clinical and Genetic Spectrum of RAB28-Related
            Cone-Rod Dystrophy: Pathogenicity of Novel Variants in Italian
            Families
  JOURNAL   Int J Mol Sci 22 (1), 381 (2020)
   PUBMED   33396523
  REMARK    GeneRIF: Expanding the Clinical and Genetic Spectrum of
            RAB28-Related Cone-Rod Dystrophy: Pathogenicity of Novel Variants
            in Italian Families.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1690)
  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   4  (bases 1 to 1690)
  AUTHORS   Jespersgaard,C., Hey,A.B., Ilginis,T., Hjortshoj,T.D., Fang,M.,
            Bertelsen,M., Bech,N., Jensen,H., Larsen,L.J., Tumer,Z.,
            Rosenberg,T., Brondum-Nielsen,K., Moller,L.B. and Gronskov,K.
  TITLE     A Missense Mutation in RAB28 in a Family with Cone-Rod Dystrophy
            and Postaxial Polydactyly Prevents Localization of RAB28 to the
            Primary Cilium
  JOURNAL   Invest Ophthalmol Vis Sci 61 (2), 29 (2020)
   PUBMED   32084271
  REMARK    GeneRIF: In conclusion, RAB28 variants are a rare cause of cone-rod
            dystrophy in various ethnic groups. These variants cause a
            comparable ophthalmological phenotype and furthermore could also be
            a cause of postaxial polydactyly.
REFERENCE   5  (bases 1 to 1690)
  AUTHORS   Lee,G.I., Lee,C., Subramanian,S., Kim,N.K.D., Ki,C.S., Park,W.Y.,
            Kim,B.J. and Kim,S.J.
  TITLE     A novel likely pathogenic variant in the RAB28 gene in a Korean
            patient with cone-rod dystrophy
  JOURNAL   Ophthalmic Genet 38 (6), 587-589 (2017)
   PUBMED   28388261
  REMARK    GeneRIF: In summary, we identified a novel rare 'likely pathogenic'
            variant--RAB28 c.68C>T--in a Korean patient with cone-rod
            dystrophy.
REFERENCE   6  (bases 1 to 1690)
  AUTHORS   Yoshimura,S., Gerondopoulos,A., Linford,A., Rigden,D.J. and
            Barr,F.A.
  TITLE     Family-wide characterization of the DENN domain Rab GDP-GTP
            exchange factors
  JOURNAL   J Cell Biol 191 (2), 367-381 (2010)
   PUBMED   20937701
REFERENCE   7  (bases 1 to 1690)
  AUTHORS   Lee,S.H., Baek,K. and Dominguez,R.
  TITLE     Large nucleotide-dependent conformational change in Rab28
  JOURNAL   FEBS Lett 582 (29), 4107-4111 (2008)
   PUBMED   19026641
  REMARK    GeneRIF: Crystal structures of Rab28 in the active (GppNHp-bound)
            and inactive (GDP-3'P-bound) forms at 1.5 and 1.1A resolution were
            reported.
REFERENCE   8  (bases 1 to 1690)
  AUTHORS   Stenmark,H. and Olkkonen,V.M.
  TITLE     The Rab GTPase family
  JOURNAL   Genome Biol 2 (5), REVIEWS3007 (2001)
   PUBMED   11387043
  REMARK    Review article
REFERENCE   9  (bases 1 to 1690)
  AUTHORS   Pereira-Leal,J.B. and Seabra,M.C.
  TITLE     The mammalian Rab family of small GTPases: definition of family and
            subfamily sequence motifs suggests a mechanism for functional
            specificity in the Ras superfamily
  JOURNAL   J Mol Biol 301 (4), 1077-1087 (2000)
   PUBMED   10966806
REFERENCE   10 (bases 1 to 1690)
  AUTHORS   Brauers,A., Schurmann,A., Massmann,S., Muhl-Zurbes,P., Becker,W.,
            Kainulainen,H., Lie,C. and Joost,H.G.
  TITLE     Alternative mRNA splicing of the novel GTPase Rab28 generates
            isoforms with different C-termini
  JOURNAL   Eur J Biochem 237 (3), 833-840 (1996)
   PUBMED   8647132
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA369194.1 and BC035054.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_001017979.2.
            
            Summary: This gene encodes a member of the Rab subfamily of
            Ras-related small GTPases. The encoded protein may be involved in
            regulating intracellular trafficking. Alternative splicing results
            in multiple transcript variants. Pseudogenes of this gene are found
            on chromosomes 9 and X. [provided by RefSeq, Apr 2009].
            
            Transcript Variant: This variant (1) 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 :: SRR3476690.9581.1,
                                           SRR3476690.967410.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000330852.10/ ENSP00000328551.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-214               DA369194.1         26-239
            215-1690            BC035054.2         213-1688
FEATURES             Location/Qualifiers
     source          1..1690
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4p15.33"
     gene            1..1690
                     /gene="RAB28"
                     /gene_synonym="CORD18"
                     /note="RAB28, member RAS oncogene family"
                     /db_xref="GeneID:9364"
                     /db_xref="HGNC:HGNC:9768"
                     /db_xref="MIM:612994"
     exon            1..265
                     /gene="RAB28"
                     /gene_synonym="CORD18"
                     /inference="alignment:Splign:2.1.0"
     CDS             191..856
                     /gene="RAB28"
                     /gene_synonym="CORD18"
                     /note="isoform 1 is encoded by transcript variant 1;
                     Ras-related protein Rab-28"
                     /codon_start=1
                     /product="ras-related protein Rab-28 isoform 1"
                     /protein_id="NP_001017979.1"
                     /db_xref="CCDS:CCDS33961.1"
                     /db_xref="GeneID:9364"
                     /db_xref="HGNC:HGNC:9768"
                     /db_xref="MIM:612994"
                     /translation="MSDSEEESQDRQLKIVVLGDGASGKTSLTTCFAQETFGKQYKQT
                     IGLDFFLRRITLPGNLNVTLQIWDIGGQTIGGKMLDKYIYGAQGVLLVYDITNYQSFE
                     NLEDWYTVVKKVSEESETQPLVALVGNKIDLEHMRTIKPEKHLRFCQENGFSSHFVSA
                     KTGDSVFLCFQKVAAEILGIKLNKAEIEQSQRVVKADIVNYNQEPMSRTVNPPRSSMC
                     AVQ"
     exon            266..362
                     /gene="RAB28"
                     /gene_synonym="CORD18"
                     /inference="alignment:Splign:2.1.0"
     exon            363..451
                     /gene="RAB28"
                     /gene_synonym="CORD18"
                     /inference="alignment:Splign:2.1.0"
     exon            452..581
                     /gene="RAB28"
                     /gene_synonym="CORD18"
                     /inference="alignment:Splign:2.1.0"
     exon            582..685
                     /gene="RAB28"
                     /gene_synonym="CORD18"
                     /inference="alignment:Splign:2.1.0"
     exon            686..763
                     /gene="RAB28"
                     /gene_synonym="CORD18"
                     /inference="alignment:Splign:2.1.0"
     exon            764..1690
                     /gene="RAB28"
                     /gene_synonym="CORD18"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1672..1677
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RAB28"
                     /gene_synonym="CORD18"
                     /note="hexamer: AATAAA"
     polyA_site      1690
                     /gene="RAB28"
                     /gene_synonym="CORD18"
                     /note="major polyA site"
ORIGIN      
        1 gcagagggcg gggaggtggg caagatggcg cttgccgagt gattctcctc gaatacctcc
       61 tgccggcgcg gagacaccgg ggcgggggtc ctgccgcaac tacctccctt cctcctctcc
      121 cccgcccccg gagccttcat ccttcccttc cccccccacc tcgaggggcg ggcctggttc
      181 ccgggacacc atgtcggact ctgaggagga gagccaggac cggcaactga aaatcgtcgt
      241 gctgggggac ggcgcctccg ggaagacctc cttaactacg tgttttgctc aagaaacttt
      301 tgggaaacag tacaaacaaa ctataggact ggatttcttt ttgagaagga taacattgcc
      361 aggaaacttg aatgttaccc ttcaaatttg ggatatagga gggcagacaa taggaggcaa
      421 aatgttggat aaatatatct atggagcaca gggagtcctc ttggtatatg atattacaaa
      481 ttatcaaagc tttgagaatt tagaagattg gtatactgtg gtgaagaaag tgagcgagga
      541 gtcagaaact cagccactgg ttgccttggt aggcaataaa attgatttgg agcatatgcg
      601 aacaataaaa cctgaaaaac acttacggtt ttgccaggaa aatggtttta gtagccactt
      661 tgtctcagcc aagacaggag actctgtctt cctgtgcttt cagaaagttg ctgctgaaat
      721 ccttgggatc aaattaaaca aagcagaaat agaacagtca cagagggtgg tgaaggcaga
      781 tattgtaaac tacaaccagg aacctatgtc aaggactgtt aaccctccta gaagctctat
      841 gtgtgcagtt cagtgagcgc atttttcttt tgtgttgata gttctggctg cccttcacct
      901 ctgggtgggc ccgaggactt ctaggaactt gttttatcag tgaccatctc tgtagttcag
      961 ttaacacttt actcccaact tgcttcatca ttgctattgc ctcacagtgg caggcagctc
     1021 cttggatttg aaagaattca actttgggac cacacacttt gaattcaaaa tggaaaaccc
     1081 attccctgga attagactgc ttcattgcaa aagaatgatg ttgtttcttt gtatgtcctt
     1141 gcttcttttt tcattgatgt aaattttttt aacttaatat gaaaactctc caagtcttga
     1201 tcatcagcca ggattttgcc acagcaattt cattctctta tcggaacttg tatgtgtcaa
     1261 agtatacttc agagtgcaaa cattaagcaa gtaatatatt ttacctacag atacttatga
     1321 agacattctt tcgctatcgt gagtaaaagt atataaagct gtttctaact gaaaatgctt
     1381 gaaataagcc tgtaatagaa atattttttc attttttaaa aaagggccta aattgtttat
     1441 attgtagttt gtaactcaca aagtaatatt tgatattgta tttttattac tgtatcgttg
     1501 tcgttatgta ttgtgtaata ctcaggtttg aaggctttct gaattctgat aaatgttcag
     1561 ctgatgctcc acgtggaatt tctcttgcaa actgcataag agtactcccg agaatgagtt
     1621 atgacattgt ggatcagact gtacctgatg ttcagatgtt tttctttcac aaataaactt
     1681 atttaaatta
//
