LOCUS       NM_001414458            5576 bp    mRNA    linear   PRI 24-NOV-2023
DEFINITION  Homo sapiens RAB5B, member RAS oncogene family (RAB5B), transcript
            variant 5, mRNA.
ACCESSION   NM_001414458 XM_047429281
VERSION     NM_001414458.1
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 5576)
  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 5576)
  AUTHORS   Alan Harris R, Archer KJ, Goodarzi MO, York TP, Rogers J, Dunaif A,
            McAllister JM and Strauss JF 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 5576)
  AUTHORS   Huang H, Pan J, Spielberg DR, Hanchard NA, Scott DA, Burrage LC,
            Dai H, Murdock D, Rosenfeld JA, Mohammad A, Huang T, Lindsey AG,
            Kim H, Chen J, Ramu A, Morrison SA, Dawson ZD, Hu AZ, Tycksen E,
            Silverman GA, Baldridge D, Wambach JA, Pak SC, Brody SL 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 5576)
  AUTHORS   Christensen JR, Kendrick AA, Truong JB, Aguilar-Maldonado A, Adani
            V, Dzieciatkowska M and Reck-Peterson SL.
  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 5576)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  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 5576)
  AUTHORS   Callaghan J, Nixon S, Bucci C, Toh BH 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 5576)
  AUTHORS   Chiariello M, Bruni CB 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 5576)
  AUTHORS   Bao S, Zhu J and Garvey WT.
  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 5576)
  AUTHORS   Bucci C, Lutcke A, Steele-Mortimer O, Olkkonen VM, Dupree P,
            Chiariello M, Bruni CB, 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 5576)
  AUTHORS   Wilson DB and Wilson MP.
  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_047429281.1.
            
            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 :: SRR11853564.6826.1,
                                           SRR14038193.146687.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1970526, SAMEA2146236
                                           [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-262               AC034102.32        186960-187221       c
            263-365             AC034102.32        181825-181927       c
            366-620             AC034102.32        174176-174430       c
            621-772             AC034102.32        171201-171352       c
            773-895             AC034102.32        170495-170617       c
            896-989             AC034102.32        169846-169939       c
            990-5576            AC034102.32        164616-169202       c
FEATURES             Location/Qualifiers
     source          1..5576
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.2"
     gene            1..5576
                     /gene="RAB5B"
                     /note="RAB5B, member RAS oncogene family"
                     /db_xref="GeneID:5869"
                     /db_xref="HGNC:HGNC:9784"
                     /db_xref="MIM:179514"
     exon            1..262
                     /gene="RAB5B"
                     /inference="alignment:Splign:2.1.0"
     misc_feature    164..166
                     /gene="RAB5B"
                     /note="upstream in-frame stop codon"
     CDS             215..1105
                     /gene="RAB5B"
                     /EC_number="3.6.5.2"
                     /note="isoform 3 is encoded by transcript variant 5;
                     ras-related protein Rab-5B"
                     /codon_start=1
                     /product="ras-related protein Rab-5B isoform 3"
                     /protein_id="NP_001401387.1"
                     /db_xref="GeneID:5869"
                     /db_xref="HGNC:HGNC:9784"
                     /db_xref="MIM:179514"
                     /translation="

MGVAEEGTGRPGTPKLVTLDQQNEELSQVVELSFQDFGDLGLNRVGEGDEGVLKPGNPLPFPLPPLQYPPPSTLSHSDNLAMTSRSTARPNGQPQASKICQFKLVLLGESAVGKSSLVLRFVKGQFHEYQESTIGAAFLTQSVCLDDTTVKFEIWDTAGQERYHSLAPMYYRGAQAAIVVYDITNQETFARAKTWVKELQRQASPSIVIALAGNKADLANKRMVEYEEAQAYADDNSLLFMETSAKTAMNVNDLFLAIAKKLPKSEPQNLGGAAGRSRGVDLHEQSQQNKSQCCSN"

     misc_feature    515..1003
                     /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    515..523
                     /gene="RAB5B"
                     /note="Rab subfamily motif 1 (RabSF1); other site"
                     /db_xref="CDD:206653"
     misc_feature    536..559
                     /gene="RAB5B"
                     /note="G1 box; other site"
                     /db_xref="CDD:206653"
     misc_feature    order(542..562,590..595,608..613,689..691,854..859,
                     863..865,944..952)
                     /gene="RAB5B"
                     /note="GTP/Mg2+ binding site [chemical binding]; other
                     site"
                     /db_xref="CDD:206653"
     misc_feature    order(560..595,605..610)
                     /gene="RAB5B"
                     /note="Rab subfamily motif 2 (RabSF2); other site"
                     /db_xref="CDD:206653"
     misc_feature    order(590..592,605..631)
                     /gene="RAB5B"
                     /note="Switch I region; other site"
                     /db_xref="CDD:206653"
     misc_feature    order(605..607,617..640,659..661,665..667)
                     /gene="RAB5B"
                     /note="putative GEF interaction site [polypeptide
                     binding]; other site"
                     /db_xref="CDD:206653"
     misc_feature    611..613
                     /gene="RAB5B"
                     /note="G2 box; other site"
                     /db_xref="CDD:206653"
     misc_feature    order(614..619,623..625,677..682,701..703,707..709,
                     713..721)
                     /gene="RAB5B"
                     /note="putative GDI interaction site [polypeptide
                     binding]; other site"
                     /db_xref="CDD:206653"
     misc_feature    614..628
                     /gene="RAB5B"
                     /note="Rab family motif 1 (RabF1); other site"
                     /db_xref="CDD:206653"
     misc_feature    order(620..628,632..634,698..700,719..724)
                     /gene="RAB5B"
                     /note="effector interaction site [active]"
                     /db_xref="CDD:206653"
     misc_feature    665..679
                     /gene="RAB5B"
                     /note="Rab family motif 2 (RabF2); other site"
                     /db_xref="CDD:206653"
     misc_feature    680..691
                     /gene="RAB5B"
                     /note="G3 box; other site"
                     /db_xref="CDD:206653"
     misc_feature    order(689..691,695..727)
                     /gene="RAB5B"
                     /note="Switch II region; other site"
                     /db_xref="CDD:206653"
     misc_feature    698..715
                     /gene="RAB5B"
                     /note="Rab family motif 3 (RabF3); other site"
                     /db_xref="CDD:206653"
     misc_feature    722..727
                     /gene="RAB5B"
                     /note="Rab family motif 4 (RabF4); other site"
                     /db_xref="CDD:206653"
     misc_feature    749..766
                     /gene="RAB5B"
                     /note="Rab family motif 5 (RabF5); other site"
                     /db_xref="CDD:206653"
     misc_feature    830..847
                     /gene="RAB5B"
                     /note="Rab subfamily motif 3 (RabSF3); other site"
                     /db_xref="CDD:206653"
     misc_feature    854..865
                     /gene="RAB5B"
                     /note="G4 box; other site"
                     /db_xref="CDD:206653"
     misc_feature    944..952
                     /gene="RAB5B"
                     /note="G5 box; other site"
                     /db_xref="CDD:206653"
     misc_feature    992..1000
                     /gene="RAB5B"
                     /note="Rab subfamily motif 4 (RabSF4); other site"
                     /db_xref="CDD:206653"
     exon            263..365
                     /gene="RAB5B"
                     /inference="alignment:Splign:2.1.0"
     exon            366..620
                     /gene="RAB5B"
                     /inference="alignment:Splign:2.1.0"
     exon            621..772
                     /gene="RAB5B"
                     /inference="alignment:Splign:2.1.0"
     exon            773..895
                     /gene="RAB5B"
                     /inference="alignment:Splign:2.1.0"
     exon            896..989
                     /gene="RAB5B"
                     /inference="alignment:Splign:2.1.0"
     exon            990..5576
                     /gene="RAB5B"
                     /inference="alignment:Splign:2.1.0"
     polyA_site      3585
                     /gene="RAB5B"
                     /note="major polyA site"
     regulatory      5558..5563
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RAB5B"
                     /note="hexamer: AATAAA"
     polyA_site      5576
                     /gene="RAB5B"
ORIGIN      

gagctgcagctgtttgtctgttcgacacaggcttggggccgacgggggagacggagccccaggtaccgagctgatggagcccaaagggcaggggcggaagcgcccgggagatgagagcagcctggcctgagagcggaggcgggtctggtcctaagcgaggggttagagtggcccaccggagaggggagaagggggccgggccccggcaggcctaatgggggtcgctgaggaggggactgggcggcctgggaccccgaagttggtaacactggatcaacaaaatgaagagctgagccaagtggtagaactctcatttcaagattttggtgacttgggtttaaacagagttggagagggagatgaaggagtgttgaagcctggaaatcccctccccttccccctcccccctttacagtatccccctccctccaccctttcccattctgataatctggccatgactagcagaagcacagctaggcccaatgggcaaccccaggccagcaaaatttgccagttcaaattggtcctgctgggagaatctgcagtgggaaagtcaagcctggtattacgttttgtcaaagggcagttccatgagtaccaggagagcaccattggagcggccttcctcacccagtccgtttgtctagatgacacaacagtgaagtttgagatctgggacacagctgggcaggagcgatatcacagcttagcccccatgtactacaggggtgcccaagctgcaatcgtggtttacgacattactaatcaggaaacctttgcccgagcaaagacatgggtgaaggaactacagcgacaggccagtcctagcatcgttattgccctggcagggaacaaagctgacctggccaacaaacgtatggtggagtatgaagaggcccaggcatatgcagatgacaacagcttattgttcatggagacttcagccaagacagctatgaacgtgaatgatctcttcctggcaatagctaagaagttgccaaagagtgaaccccagaatctgggaggtgcagcaggccgaagccggggtgtggatctccatgaacagtcccagcagaacaagagccagtgttgtagcaactgagggggtggctagcagcaaacaagtatggagctagcacaagagctaagaaataacctccatccctacccctcagcacacaacccctacggtaacagcacactgagccctggctcccaagggctgcctcctgacagctccgtcatggcactttttaacgcttcagcaacaaacaccaggcagctgttgccactggcctcctaccccctactctggggcttgggggtcaactccccccaggacttaccttccaaaacaaactttcttcactttgtattataggtacaagacagcgacttacgtatcttttctcctcctccctagtgttcctccccattttttcagaaaacacttctgactcctgtcccttccccttctgcttttggtcagtccctgttcttgagcctcttttctcctctccccaggatgcagaaagtggtgaacccaggaactgaggaaggaggtttccagttcatttacattaagggccctgggggagaataaagctcagagcaggagggagtaaggaaacatttcctttttgtttttatttggttggagtttctcatatttgaaaacattgcggtatccatgatttggccttgtggagggtgttcctaggtagaggtgagaatggggaggcaagatctcaggcaccaggcaggaggtgccttgtaagctaactgggcggaggtggaggtgcagtgtcaactgtggctctgtaactcttcaaaggcccagtttcccctcacgcagcctcttaggtagcgtttcccctaatcgtgggggttggaccccagagtcttccaaagaattttcactggttgcctgcatctttggctctgctgtgatctgattggaggagggacagtttctggtacccatcctctgatttatacatatgcattttttcccctctggcctttagatggcctcagccccagccaccatatacccctgcagtttgcactttaattgatggtagttcagttggggtacttgttttatggaagttttgattgatttacttgccctcccaccttctttttaattcaatgaaatctgaggttaatgcgaggttcgaggagaggttatagataaaactaccagtggcagctactcaagtcctatctccactgttagcttcctccaactctaattattaacctatattcttgccaagctaactattgactataggtttgcctttcctggagaattaattgagcaattgaggagtgtctcaggatagcacaggccaaggtaggggagtaaaaaggaggtcaggcaaaagggaggagttttctgtcctttcccaggtttcacactcaatttgatatccattaccatgtcttttctacttccttgtaaataggtatgatctttattcccactgtacagtctgttctatcctctgcctcccatcaggccctgtttctttgttcctttgttaatatcttgaatttagtccctccatccttaatccccccatccctccccatcatgcaaccagtggtttaatccatgtaccaataggggctagtaccacagaggcctcctgtggtgccctcgtatcataccacctgttcctgtggagagggaatgaccggcactgaaggtaccttacaactggctcatattatcagaggaccttggtcctttctaaatctctagtctctcttcatatccttcatcaggtgttttaagatgtctctgagaagccatcaaggcaaaagagaactttaagttccttgttccagcccggagttttgggaaagaaagaaaggaaaggtcacagtgacctaggattggaaccttcctgcccttttggcttgcagactgccttctatcccagaacagctgagaaatctatgaagctgagattctgaaggacccagcttaggttcttccacttaggcctcaattcccttccttttccaggggcagccttagttcccatggccctgaaacacacacatttcccccttcctttcccagaagccactggccccccatagcacccagtgcatcctttttacaagtggaagaactaggatggctttccaaagtcttctagaaatgaagttctttctctgtgcagctttcccccttggagcaggagtgaagatgtttcattatcttgggcctgggaaaccacttccccaggcttctccctccccccacccccataggaacaggatttggccttagcttctgggcctatcggctgccttccctctacttcctaccacctcttctgccttcctttgagctctgttgggcttggggatcttagttttcttttgtttatttcccagctcatttttttcttctggtcagtttttttaagggggggtgttgtggttttttgtttttgttttgcttctgagaaagcatttgcctttcttcctctcccaacataacaatcgtggtaacagaatgcgactgctgatttaccgatgtatttaatgtaagtaaaaaaaggaaaaaaagaaaagggcattggagtgttgcttttttttattttattgttattattattattatttttgctatttgtcaggtactaggaatttggaagaaaggatacccagtaatgttctactgaatcagaaacacacctttccctgcatcttgatacatctttattccctttaatcttttcttaaacatctagtttagaaaatagcccttctattgctatttaatcacccctcttctaaggccactagattgttcatcaaatcaaaccctattatatctttttaggccctcttaacagaatgtatatgtgtagggtatggtctgtggatctttgggcccactgatcagattagagagaggggtgctatttgaagtagtatacaaaaatgtatgtgcatatttctttttttttttttaattgagacggagtctctgtcgctagcctggagtacagtggcacgatcttggctcacagcaatctccgcctcctgagttcaagtgattctcctgcctcagcctcctgagtagctaggattacaggcacgcaccaacacacccagctaatttttgtatttttagtagagacggggtttcaccatgttggtcaggctggtcttgaactcctgacctcgtgatccacccaccttggcctcccaaagtgctgggattacgggcgtgagccactgcgcccggccgtatgtgcatatttctaggatccatttctatatgtttctcaaaggggtccatgacccaaaggttgaaaaacatcactgagttagttttcttgtagcttccacctcaacgggaaaatttcctctggatctgctcttgactcctagtgtacttcaaacccttcagtccaccacagtctaaaggtcgagggaagggaaatgaaataggattatgtgtggttgcagtaggctttaaattccaaagaatctgaaggtggataggaaagaggactggtgccagacaaatctgacattctaggcctgtctctgtcaacttaaccagctgtggccttgatcaagttagttagtgccttccgcctcgtttcttcatctgtaaagtaaaagctgaagattaaggtcaattatgtaaagtatgtgtgtcacacaaaagtagatgacactattaggaaggaggcttttagatagtccctaactgacttctctgtatcttcctttggctgagacttttttttttttaggttgaagctcgctttctctctctctccctctttctccctctctctctctctctcactctctctctctccatatatatatacatatatatatatatatatattttttttttaacaactggtaggataggttgggcattagccttcttcagtgatttgattgtatacagattgaaatcctttccatttccaaacacttaagagccaaagccaacttgccaacttttcactgtcggttcccttaccttatatctcttggtaataccccccacccccgttccctgattcctggtaaaagctctagttggagagccgaaaggaaaggaaatgatctttcaaaattaaaggtgaacaccttcacttaaactgattaaaattgcagctccaccgtccggcctctagagggcagtgtatggatacatttgtccagattgggggactaggtttgataaattttgtcctgcatcaaatgacaaaagggtaataggaaatgtattatatttatgccccttactttgagataagagactacaaccttcatacttcggggtgttaagctgccattgctcttgttaaggggcagtttgttttttaagagatggggtcttgctctgttgtccaggctggagtgcagtgccgcgatcttggctcagtgcaacctcgaactcctgggcttaagcgatcctcccgcctcagcctcccgagtactgggactacaggcgtgtgccaccaaggggcgattattattttttttttctacgcaaaataaaagacggctattca

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