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2024-11-01 08:00:06, GGRNA.v2 : RefSeq release 226 (Sep, 2024)

LOCUS       NM_001414457            5376 bp    mRNA    linear   PRI 10-APR-2024
DEFINITION  Homo sapiens RAB5B, member RAS oncogene family (RAB5B), transcript
            variant 4, mRNA.
ACCESSION   NM_001414457 XM_005269051
VERSION     NM_001414457.1
KEYWORDS    RefSeq.
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 5376)
  AUTHORS   Fan,H., Zhou,D., Zhang,X., Jiang,M., Kong,X., Xue,T., Gao,L.,
            Lu,D., Tao,C. and Wang,L.
  TITLE     hsa_circRNA_BECN1 acts as a ceRNA to promote polycystic ovary
            syndrome progression by sponging the miR-619-5p/Rab5b axis
  JOURNAL   Mol Hum Reprod 29 (11) (2023)
   PUBMED   37882757
  REMARK    GeneRIF: hsa_circRNA_BECN1 acts as a ceRNA to promote polycystic
            ovary syndrome progression by sponging the miR-619-5p/Rab5b axis.
REFERENCE   2  (bases 1 to 5376)
  AUTHORS   Alan Harris,R., Archer,K.J., Goodarzi,M.O., York,T.P., Rogers,J.,
            Dunaif,A., McAllister,J.M. and Strauss,J.F. 3rd.
  TITLE     Loci on chromosome 12q13.2 encompassing ERBB3, PA2G4 and RAB5B are
            associated with polycystic ovary syndrome
  JOURNAL   Gene 852, 147062 (2023)
   PUBMED   36423778
  REMARK    GeneRIF: Loci on chromosome 12q13.2 encompassing ERBB3, PA2G4 and
            RAB5B are associated with polycystic ovary syndrome.
REFERENCE   3  (bases 1 to 5376)
  AUTHORS   Huang,H., Pan,J., Spielberg,D.R., Hanchard,N.A., Scott,D.A.,
            Burrage,L.C., Dai,H., Murdock,D., Rosenfeld,J.A., Mohammad,A.,
            Huang,T., Lindsey,A.G., Kim,H., Chen,J., Ramu,A., Morrison,S.A.,
            Dawson,Z.D., Hu,A.Z., Tycksen,E., Silverman,G.A., Baldridge,D.,
            Wambach,J.A., Pak,S.C., Brody,S.L. and Schedl,T.
  CONSRTM   Undiagnosed Diseases Network
  TITLE     A dominant negative variant of RAB5B disrupts maturation of
            surfactant protein B and surfactant protein C
  JOURNAL   Proc Natl Acad Sci U S A 119 (6) (2022)
   PUBMED   35121658
  REMARK    GeneRIF: A dominant negative variant of RAB5B disrupts maturation
            of surfactant protein B and surfactant protein C.
REFERENCE   4  (bases 1 to 5376)
  AUTHORS   Christensen,J.R., Kendrick,A.A., Truong,J.B., Aguilar-Maldonado,A.,
            Adani,V., Dzieciatkowska,M. and Reck-Peterson,S.L.
  TITLE     Cytoplasmic dynein-1 cargo diversity is mediated by the
            combinatorial assembly of FTS-Hook-FHIP complexes
  JOURNAL   Elife 10, e74538 (2021)
   PUBMED   34882091
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 5376)
  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   6  (bases 1 to 5376)
  AUTHORS   Callaghan,J., Nixon,S., Bucci,C., Toh,B.H. and Stenmark,H.
  TITLE     Direct interaction of EEA1 with Rab5b
  JOURNAL   Eur J Biochem 265 (1), 361-366 (1999)
   PUBMED   10491193
REFERENCE   7  (bases 1 to 5376)
  AUTHORS   Chiariello,M., Bruni,C.B. and Bucci,C.
  TITLE     The small GTPases Rab5a, Rab5b and Rab5c are differentially
            phosphorylated in vitro
  JOURNAL   FEBS Lett 453 (1-2), 20-24 (1999)
   PUBMED   10403367
REFERENCE   8  (bases 1 to 5376)
  AUTHORS   Bao,S., Zhu,J. and Garvey,W.T.
  TITLE     Cloning of Rab GTPases expressed in human skeletal muscle: studies
            in insulin-resistant subjects
  JOURNAL   Horm Metab Res 30 (11), 656-662 (1998)
   PUBMED   9918381
REFERENCE   9  (bases 1 to 5376)
  AUTHORS   Bucci,C., Lutcke,A., Steele-Mortimer,O., Olkkonen,V.M., Dupree,P.,
            Chiariello,M., Bruni,C.B., Simons,K. and Zerial,M.
  TITLE     Co-operative regulation of endocytosis by three Rab5 isoforms
  JOURNAL   FEBS Lett 366 (1), 65-71 (1995)
   PUBMED   7789520
REFERENCE   10 (bases 1 to 5376)
  AUTHORS   Wilson,D.B. and Wilson,M.P.
  TITLE     Identification and subcellular localization of human rab5b, a new
            member of the ras-related superfamily of GTPases
  JOURNAL   J Clin Invest 89 (3), 996-1005 (1992)
   PUBMED   1541686
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC034102.32.
            
            On Nov 25, 2022 this sequence version replaced XM_005269051.4.
            
            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 :: SRR11853563.7588.1,
                                           SRR11853567.7216.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-62                AC034102.32        187160-187221       c
            63-165              AC034102.32        181825-181927       c
            166-420             AC034102.32        174176-174430       c
            421-572             AC034102.32        171201-171352       c
            573-695             AC034102.32        170495-170617       c
            696-789             AC034102.32        169846-169939       c
            790-5376            AC034102.32        164616-169202       c
FEATURES             Location/Qualifiers
     source          1..5376
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.2"
     gene            1..5376
                     /gene="RAB5B"
                     /note="RAB5B, member RAS oncogene family"
                     /db_xref="GeneID:5869"
                     /db_xref="HGNC:HGNC:9784"
                     /db_xref="MIM:179514"
     exon            1..62
                     /gene="RAB5B"
                     /inference="alignment:Splign:2.1.0"
     exon            63..165
                     /gene="RAB5B"
                     /inference="alignment:Splign:2.1.0"
     exon            166..420
                     /gene="RAB5B"
                     /inference="alignment:Splign:2.1.0"
     CDS             258..905
                     /gene="RAB5B"
                     /EC_number="3.6.5.2"
                     /note="isoform 1 is encoded by transcript variant 4;
                     ras-related protein Rab-5B"
                     /codon_start=1
                     /product="ras-related protein Rab-5B isoform 1"
                     /protein_id="NP_001401386.1"
                     /db_xref="GeneID:5869"
                     /db_xref="HGNC:HGNC:9784"
                     /db_xref="MIM:179514"
                     /translation="
MTSRSTARPNGQPQASKICQFKLVLLGESAVGKSSLVLRFVKGQFHEYQESTIGAAFLTQSVCLDDTTVKFEIWDTAGQERYHSLAPMYYRGAQAAIVVYDITNQETFARAKTWVKELQRQASPSIVIALAGNKADLANKRMVEYEEAQAYADDNSLLFMETSAKTAMNVNDLFLAIAKKLPKSEPQNLGGAAGRSRGVDLHEQSQQNKSQCCSN"
     misc_feature    261..263
                     /gene="RAB5B"
                     /note="N-acetylthreonine.
                     /evidence=ECO:0007744|PubMed:19413330; propagated from
                     UniProtKB/Swiss-Prot (P61020.1); acetylation site"
     misc_feature    315..803
                     /gene="RAB5B"
                     /note="Rab-related GTPase family includes Rab5 and Rab22;
                     regulates early endosome fusion; Region: Rab5_related;
                     cd01860"
                     /db_xref="CDD:206653"
     misc_feature    315..323
                     /gene="RAB5B"
                     /note="Rab subfamily motif 1 (RabSF1); other site"
                     /db_xref="CDD:206653"
     misc_feature    336..359
                     /gene="RAB5B"
                     /note="G1 box; other site"
                     /db_xref="CDD:206653"
     misc_feature    order(342..362,390..395,408..413,489..491,654..659,
                     663..665,744..752)
                     /gene="RAB5B"
                     /note="GTP/Mg2+ binding site [chemical binding]; other
                     site"
                     /db_xref="CDD:206653"
     misc_feature    order(360..395,405..410)
                     /gene="RAB5B"
                     /note="Rab subfamily motif 2 (RabSF2); other site"
                     /db_xref="CDD:206653"
     misc_feature    order(390..392,405..431)
                     /gene="RAB5B"
                     /note="Switch I region; other site"
                     /db_xref="CDD:206653"
     misc_feature    402..428
                     /gene="RAB5B"
                     /note="propagated from UniProtKB/Swiss-Prot (P61020.1);
                     Region: Effector region. /evidence=ECO:0000255"
     misc_feature    order(405..407,417..440,459..461,465..467)
                     /gene="RAB5B"
                     /note="putative GEF interaction site [polypeptide
                     binding]; other site"
                     /db_xref="CDD:206653"
     misc_feature    411..413
                     /gene="RAB5B"
                     /note="G2 box; other site"
                     /db_xref="CDD:206653"
     misc_feature    order(414..419,423..425,477..482,501..503,507..509,
                     513..521)
                     /gene="RAB5B"
                     /note="putative GDI interaction site [polypeptide
                     binding]; other site"
                     /db_xref="CDD:206653"
     misc_feature    414..428
                     /gene="RAB5B"
                     /note="Rab family motif 1 (RabF1); other site"
                     /db_xref="CDD:206653"
     misc_feature    order(420..428,432..434,498..500,519..524)
                     /gene="RAB5B"
                     /note="effector interaction site [active]"
                     /db_xref="CDD:206653"
     misc_feature    465..479
                     /gene="RAB5B"
                     /note="Rab family motif 2 (RabF2); other site"
                     /db_xref="CDD:206653"
     misc_feature    480..491
                     /gene="RAB5B"
                     /note="G3 box; other site"
                     /db_xref="CDD:206653"
     misc_feature    order(489..491,495..527)
                     /gene="RAB5B"
                     /note="Switch II region; other site"
                     /db_xref="CDD:206653"
     misc_feature    498..515
                     /gene="RAB5B"
                     /note="Rab family motif 3 (RabF3); other site"
                     /db_xref="CDD:206653"
     misc_feature    507..509
                     /gene="RAB5B"
                     /note="Phosphoserine, by LRRK2.
                     /evidence=ECO:0000269|PubMed:29125462; propagated from
                     UniProtKB/Swiss-Prot (P61020.1); phosphorylation site"
     misc_feature    522..527
                     /gene="RAB5B"
                     /note="Rab family motif 4 (RabF4); other site"
                     /db_xref="CDD:206653"
     misc_feature    549..566
                     /gene="RAB5B"
                     /note="Rab family motif 5 (RabF5); other site"
                     /db_xref="CDD:206653"
     misc_feature    630..647
                     /gene="RAB5B"
                     /note="Rab subfamily motif 3 (RabSF3); other site"
                     /db_xref="CDD:206653"
     misc_feature    654..665
                     /gene="RAB5B"
                     /note="G4 box; other site"
                     /db_xref="CDD:206653"
     misc_feature    744..752
                     /gene="RAB5B"
                     /note="G5 box; other site"
                     /db_xref="CDD:206653"
     misc_feature    792..800
                     /gene="RAB5B"
                     /note="Rab subfamily motif 4 (RabSF4); other site"
                     /db_xref="CDD:206653"
     misc_feature    813..902
                     /gene="RAB5B"
                     /note="propagated from UniProtKB/Swiss-Prot (P61020.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     exon            421..572
                     /gene="RAB5B"
                     /inference="alignment:Splign:2.1.0"
     exon            573..695
                     /gene="RAB5B"
                     /inference="alignment:Splign:2.1.0"
     exon            696..789
                     /gene="RAB5B"
                     /inference="alignment:Splign:2.1.0"
     exon            790..5376
                     /gene="RAB5B"
                     /inference="alignment:Splign:2.1.0"
     polyA_site      3385
                     /gene="RAB5B"
                     /note="major polyA site"
     regulatory      5358..5363
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RAB5B"
                     /note="hexamer: AATAAA"
     polyA_site      5376
                     /gene="RAB5B"
ORIGIN      
gagctgcagctgtttgtctgttcgacacaggcttggggccgacgggggagacggagccccaggtaacactggatcaacaaaatgaagagctgagccaagtggtagaactctcatttcaagattttggtgacttgggtttaaacagagttggagagggagatgaaggagtgttgaagcctggaaatcccctccccttccccctcccccctttacagtatccccctccctccaccctttcccattctgataatctggccatgactagcagaagcacagctaggcccaatgggcaaccccaggccagcaaaatttgccagttcaaattggtcctgctgggagaatctgcagtgggaaagtcaagcctggtattacgttttgtcaaagggcagttccatgagtaccaggagagcaccattggagcggccttcctcacccagtccgtttgtctagatgacacaacagtgaagtttgagatctgggacacagctgggcaggagcgatatcacagcttagcccccatgtactacaggggtgcccaagctgcaatcgtggtttacgacattactaatcaggaaacctttgcccgagcaaagacatgggtgaaggaactacagcgacaggccagtcctagcatcgttattgccctggcagggaacaaagctgacctggccaacaaacgtatggtggagtatgaagaggcccaggcatatgcagatgacaacagcttattgttcatggagacttcagccaagacagctatgaacgtgaatgatctcttcctggcaatagctaagaagttgccaaagagtgaaccccagaatctgggaggtgcagcaggccgaagccggggtgtggatctccatgaacagtcccagcagaacaagagccagtgttgtagcaactgagggggtggctagcagcaaacaagtatggagctagcacaagagctaagaaataacctccatccctacccctcagcacacaacccctacggtaacagcacactgagccctggctcccaagggctgcctcctgacagctccgtcatggcactttttaacgcttcagcaacaaacaccaggcagctgttgccactggcctcctaccccctactctggggcttgggggtcaactccccccaggacttaccttccaaaacaaactttcttcactttgtattataggtacaagacagcgacttacgtatcttttctcctcctccctagtgttcctccccattttttcagaaaacacttctgactcctgtcccttccccttctgcttttggtcagtccctgttcttgagcctcttttctcctctccccaggatgcagaaagtggtgaacccaggaactgaggaaggaggtttccagttcatttacattaagggccctgggggagaataaagctcagagcaggagggagtaaggaaacatttcctttttgtttttatttggttggagtttctcatatttgaaaacattgcggtatccatgatttggccttgtggagggtgttcctaggtagaggtgagaatggggaggcaagatctcaggcaccaggcaggaggtgccttgtaagctaactgggcggaggtggaggtgcagtgtcaactgtggctctgtaactcttcaaaggcccagtttcccctcacgcagcctcttaggtagcgtttcccctaatcgtgggggttggaccccagagtcttccaaagaattttcactggttgcctgcatctttggctctgctgtgatctgattggaggagggacagtttctggtacccatcctctgatttatacatatgcattttttcccctctggcctttagatggcctcagccccagccaccatatacccctgcagtttgcactttaattgatggtagttcagttggggtacttgttttatggaagttttgattgatttacttgccctcccaccttctttttaattcaatgaaatctgaggttaatgcgaggttcgaggagaggttatagataaaactaccagtggcagctactcaagtcctatctccactgttagcttcctccaactctaattattaacctatattcttgccaagctaactattgactataggtttgcctttcctggagaattaattgagcaattgaggagtgtctcaggatagcacaggccaaggtaggggagtaaaaaggaggtcaggcaaaagggaggagttttctgtcctttcccaggtttcacactcaatttgatatccattaccatgtcttttctacttccttgtaaataggtatgatctttattcccactgtacagtctgttctatcctctgcctcccatcaggccctgtttctttgttcctttgttaatatcttgaatttagtccctccatccttaatccccccatccctccccatcatgcaaccagtggtttaatccatgtaccaataggggctagtaccacagaggcctcctgtggtgccctcgtatcataccacctgttcctgtggagagggaatgaccggcactgaaggtaccttacaactggctcatattatcagaggaccttggtcctttctaaatctctagtctctcttcatatccttcatcaggtgttttaagatgtctctgagaagccatcaaggcaaaagagaactttaagttccttgttccagcccggagttttgggaaagaaagaaaggaaaggtcacagtgacctaggattggaaccttcctgcccttttggcttgcagactgccttctatcccagaacagctgagaaatctatgaagctgagattctgaaggacccagcttaggttcttccacttaggcctcaattcccttccttttccaggggcagccttagttcccatggccctgaaacacacacatttcccccttcctttcccagaagccactggccccccatagcacccagtgcatcctttttacaagtggaagaactaggatggctttccaaagtcttctagaaatgaagttctttctctgtgcagctttcccccttggagcaggagtgaagatgtttcattatcttgggcctgggaaaccacttccccaggcttctccctccccccacccccataggaacaggatttggccttagcttctgggcctatcggctgccttccctctacttcctaccacctcttctgccttcctttgagctctgttgggcttggggatcttagttttcttttgtttatttcccagctcatttttttcttctggtcagtttttttaagggggggtgttgtggttttttgtttttgttttgcttctgagaaagcatttgcctttcttcctctcccaacataacaatcgtggtaacagaatgcgactgctgatttaccgatgtatttaatgtaagtaaaaaaaggaaaaaaagaaaagggcattggagtgttgcttttttttattttattgttattattattattatttttgctatttgtcaggtactaggaatttggaagaaaggatacccagtaatgttctactgaatcagaaacacacctttccctgcatcttgatacatctttattccctttaatcttttcttaaacatctagtttagaaaatagcccttctattgctatttaatcacccctcttctaaggccactagattgttcatcaaatcaaaccctattatatctttttaggccctcttaacagaatgtatatgtgtagggtatggtctgtggatctttgggcccactgatcagattagagagaggggtgctatttgaagtagtatacaaaaatgtatgtgcatatttctttttttttttttaattgagacggagtctctgtcgctagcctggagtacagtggcacgatcttggctcacagcaatctccgcctcctgagttcaagtgattctcctgcctcagcctcctgagtagctaggattacaggcacgcaccaacacacccagctaatttttgtatttttagtagagacggggtttcaccatgttggtcaggctggtcttgaactcctgacctcgtgatccacccaccttggcctcccaaagtgctgggattacgggcgtgagccactgcgcccggccgtatgtgcatatttctaggatccatttctatatgtttctcaaaggggtccatgacccaaaggttgaaaaacatcactgagttagttttcttgtagcttccacctcaacgggaaaatttcctctggatctgctcttgactcctagtgtacttcaaacccttcagtccaccacagtctaaaggtcgagggaagggaaatgaaataggattatgtgtggttgcagtaggctttaaattccaaagaatctgaaggtggataggaaagaggactggtgccagacaaatctgacattctaggcctgtctctgtcaacttaaccagctgtggccttgatcaagttagttagtgccttccgcctcgtttcttcatctgtaaagtaaaagctgaagattaaggtcaattatgtaaagtatgtgtgtcacacaaaagtagatgacactattaggaaggaggcttttagatagtccctaactgacttctctgtatcttcctttggctgagacttttttttttttaggttgaagctcgctttctctctctctccctctttctccctctctctctctctctcactctctctctctccatatatatatacatatatatatatatatatattttttttttaacaactggtaggataggttgggcattagccttcttcagtgatttgattgtatacagattgaaatcctttccatttccaaacacttaagagccaaagccaacttgccaacttttcactgtcggttcccttaccttatatctcttggtaataccccccacccccgttccctgattcctggtaaaagctctagttggagagccgaaaggaaaggaaatgatctttcaaaattaaaggtgaacaccttcacttaaactgattaaaattgcagctccaccgtccggcctctagagggcagtgtatggatacatttgtccagattgggggactaggtttgataaattttgtcctgcatcaaatgacaaaagggtaataggaaatgtattatatttatgccccttactttgagataagagactacaaccttcatacttcggggtgttaagctgccattgctcttgttaaggggcagtttgttttttaagagatggggtcttgctctgttgtccaggctggagtgcagtgccgcgatcttggctcagtgcaacctcgaactcctgggcttaagcgatcctcccgcctcagcctcccgagtactgggactacaggcgtgtgccaccaaggggcgattattattttttttttctacgcaaaataaaagacggctattca
//

by @meso_cacase at DBCLS
This page is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).

If you use GGRNA in your work, please cite:
Naito Y, Bono H. (2012)
GGRNA: an ultrafast, transcript-oriented search engine for genes and transcripts.
Nucleic Acids Res., 40, W592-W596. [Full Text]