LOCUS       NM_002868               5273 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens RAB5B, member RAS oncogene family (RAB5B), transcript
            variant 1, mRNA.
ACCESSION   NM_002868
VERSION     NM_002868.4
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 5273)
  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 5273)
  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 5273)
  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 5273)
  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 5273)
  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 5273)
  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 5273)
  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 5273)
  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 5273)
  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 5273)
  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
            BX537408.1 and AC034102.32.
            
            On Nov 22, 2018 this sequence version replaced NM_002868.3.
            
            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 :: BX537408.1, BC040143.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000360299.10/ ENSP00000353444.5
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-3296              BX537408.1         2-3297
            3297-5273           AC034102.32        164616-166592       c
FEATURES             Location/Qualifiers
     source          1..5273
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.2"
     gene            1..5273
                     /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..317
                     /gene="RAB5B"
                     /inference="alignment:Splign:2.1.0"
     CDS             155..802
                     /gene="RAB5B"
                     /EC_number="3.6.5.2"
                     /note="isoform 1 is encoded by transcript variant 1;
                     ras-related protein Rab-5B"
                     /codon_start=1
                     /product="ras-related protein Rab-5B isoform 1"
                     /protein_id="NP_002859.1"
                     /db_xref="CCDS:CCDS8900.1"
                     /db_xref="GeneID:5869"
                     /db_xref="HGNC:HGNC:9784"
                     /db_xref="MIM:179514"
                     /translation="MTSRSTARPNGQPQASKICQFKLVLLGESAVGKSSLVLRFVKGQ
                     FHEYQESTIGAAFLTQSVCLDDTTVKFEIWDTAGQERYHSLAPMYYRGAQAAIVVYDI
                     TNQETFARAKTWVKELQRQASPSIVIALAGNKADLANKRMVEYEEAQAYADDNSLLFM
                     ETSAKTAMNVNDLFLAIAKKLPKSEPQNLGGAAGRSRGVDLHEQSQQNKSQCCSN"
     exon            318..469
                     /gene="RAB5B"
                     /inference="alignment:Splign:2.1.0"
     exon            470..592
                     /gene="RAB5B"
                     /inference="alignment:Splign:2.1.0"
     exon            593..686
                     /gene="RAB5B"
                     /inference="alignment:Splign:2.1.0"
     exon            687..5273
                     /gene="RAB5B"
                     /inference="alignment:Splign:2.1.0"
     polyA_site      3282
                     /gene="RAB5B"
                     /note="major polyA site"
     regulatory      5255..5260
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RAB5B"
                     /note="hexamer: AATAAA"
     polyA_site      5273
                     /gene="RAB5B"
ORIGIN      
        1 gagctgcagc tgtttgtctg ttcgacacag gcttggggcc gacgggggag acggagcccc
       61 aggagtgttg aagcctggaa atcccctccc cttccccctc ccccctttac agtatccccc
      121 tccctccacc ctttcccatt ctgataatct ggccatgact agcagaagca cagctaggcc
      181 caatgggcaa ccccaggcca gcaaaatttg ccagttcaaa ttggtcctgc tgggagaatc
      241 tgcagtggga aagtcaagcc tggtattacg ttttgtcaaa gggcagttcc atgagtacca
      301 ggagagcacc attggagcgg ccttcctcac ccagtccgtt tgtctagatg acacaacagt
      361 gaagtttgag atctgggaca cagctgggca ggagcgatat cacagcttag cccccatgta
      421 ctacaggggt gcccaagctg caatcgtggt ttacgacatt actaatcagg aaacctttgc
      481 ccgagcaaag acatgggtga aggaactaca gcgacaggcc agtcctagca tcgttattgc
      541 cctggcaggg aacaaagctg acctggccaa caaacgtatg gtggagtatg aagaggccca
      601 ggcatatgca gatgacaaca gcttattgtt catggagact tcagccaaga cagctatgaa
      661 cgtgaatgat ctcttcctgg caatagctaa gaagttgcca aagagtgaac cccagaatct
      721 gggaggtgca gcaggccgaa gccggggtgt ggatctccat gaacagtccc agcagaacaa
      781 gagccagtgt tgtagcaact gagggggtgg ctagcagcaa acaagtatgg agctagcaca
      841 agagctaaga aataacctcc atccctaccc ctcagcacac aacccctacg gtaacagcac
      901 actgagccct ggctcccaag ggctgcctcc tgacagctcc gtcatggcac tttttaacgc
      961 ttcagcaaca aacaccaggc agctgttgcc actggcctcc taccccctac tctggggctt
     1021 gggggtcaac tccccccagg acttaccttc caaaacaaac tttcttcact ttgtattata
     1081 ggtacaagac agcgacttac gtatcttttc tcctcctccc tagtgttcct ccccattttt
     1141 tcagaaaaca cttctgactc ctgtcccttc cccttctgct tttggtcagt ccctgttctt
     1201 gagcctcttt tctcctctcc ccaggatgca gaaagtggtg aacccaggaa ctgaggaagg
     1261 aggtttccag ttcatttaca ttaagggccc tgggggagaa taaagctcag agcaggaggg
     1321 agtaaggaaa catttccttt ttgtttttat ttggttggag tttctcatat ttgaaaacat
     1381 tgcggtatcc atgatttggc cttgtggagg gtgttcctag gtagaggtga gaatggggag
     1441 gcaagatctc aggcaccagg caggaggtgc cttgtaagct aactgggcgg aggtggaggt
     1501 gcagtgtcaa ctgtggctct gtaactcttc aaaggcccag tttcccctca cgcagcctct
     1561 taggtagcgt ttcccctaat cgtgggggtt ggaccccaga gtcttccaaa gaattttcac
     1621 tggttgcctg catctttggc tctgctgtga tctgattgga ggagggacag tttctggtac
     1681 ccatcctctg atttatacat atgcattttt tcccctctgg cctttagatg gcctcagccc
     1741 cagccaccat atacccctgc agtttgcact ttaattgatg gtagttcagt tggggtactt
     1801 gttttatgga agttttgatt gatttacttg ccctcccacc ttctttttaa ttcaatgaaa
     1861 tctgaggtta atgcgaggtt cgaggagagg ttatagataa aactaccagt ggcagctact
     1921 caagtcctat ctccactgtt agcttcctcc aactctaatt attaacctat attcttgcca
     1981 agctaactat tgactatagg tttgcctttc ctggagaatt aattgagcaa ttgaggagtg
     2041 tctcaggata gcacaggcca aggtagggga gtaaaaagga ggtcaggcaa aagggaggag
     2101 ttttctgtcc tttcccaggt ttcacactca atttgatatc cattaccatg tcttttctac
     2161 ttccttgtaa ataggtatga tctttattcc cactgtacag tctgttctat cctctgcctc
     2221 ccatcaggcc ctgtttcttt gttcctttgt taatatcttg aatttagtcc ctccatcctt
     2281 aatcccccca tccctcccca tcatgcaacc agtggtttaa tccatgtacc aataggggct
     2341 agtaccacag aggcctcctg tggtgccctc gtatcatacc acctgttcct gtggagaggg
     2401 aatgaccggc actgaaggta ccttacaact ggctcatatt atcagaggac cttggtcctt
     2461 tctaaatctc tagtctctct tcatatcctt catcaggtgt tttaagatgt ctctgagaag
     2521 ccatcaaggc aaaagagaac tttaagttcc ttgttccagc ccggagtttt gggaaagaaa
     2581 gaaaggaaag gtcacagtga cctaggattg gaaccttcct gcccttttgg cttgcagact
     2641 gccttctatc ccagaacagc tgagaaatct atgaagctga gattctgaag gacccagctt
     2701 aggttcttcc acttaggcct caattccctt ccttttccag gggcagcctt agttcccatg
     2761 gccctgaaac acacacattt cccccttcct ttcccagaag ccactggccc cccatagcac
     2821 ccagtgcatc ctttttacaa gtggaagaac taggatggct ttccaaagtc ttctagaaat
     2881 gaagttcttt ctctgtgcag ctttccccct tggagcagga gtgaagatgt ttcattatct
     2941 tgggcctggg aaaccacttc cccaggcttc tccctccccc cacccccata ggaacaggat
     3001 ttggccttag cttctgggcc tatcggctgc cttccctcta cttcctacca cctcttctgc
     3061 cttcctttga gctctgttgg gcttggggat cttagttttc ttttgtttat ttcccagctc
     3121 atttttttct tctggtcagt ttttttaagg gggggtgttg tggttttttg tttttgtttt
     3181 gcttctgaga aagcatttgc ctttcttcct ctcccaacat aacaatcgtg gtaacagaat
     3241 gcgactgctg atttaccgat gtatttaatg taagtaaaaa aaggaaaaaa agaaaagggc
     3301 attggagtgt tgcttttttt tattttattg ttattattat tattattttt gctatttgtc
     3361 aggtactagg aatttggaag aaaggatacc cagtaatgtt ctactgaatc agaaacacac
     3421 ctttccctgc atcttgatac atctttattc cctttaatct tttcttaaac atctagttta
     3481 gaaaatagcc cttctattgc tatttaatca cccctcttct aaggccacta gattgttcat
     3541 caaatcaaac cctattatat ctttttaggc cctcttaaca gaatgtatat gtgtagggta
     3601 tggtctgtgg atctttgggc ccactgatca gattagagag aggggtgcta tttgaagtag
     3661 tatacaaaaa tgtatgtgca tatttctttt ttttttttta attgagacgg agtctctgtc
     3721 gctagcctgg agtacagtgg cacgatcttg gctcacagca atctccgcct cctgagttca
     3781 agtgattctc ctgcctcagc ctcctgagta gctaggatta caggcacgca ccaacacacc
     3841 cagctaattt ttgtattttt agtagagacg gggtttcacc atgttggtca ggctggtctt
     3901 gaactcctga cctcgtgatc cacccacctt ggcctcccaa agtgctggga ttacgggcgt
     3961 gagccactgc gcccggccgt atgtgcatat ttctaggatc catttctata tgtttctcaa
     4021 aggggtccat gacccaaagg ttgaaaaaca tcactgagtt agttttcttg tagcttccac
     4081 ctcaacggga aaatttcctc tggatctgct cttgactcct agtgtacttc aaacccttca
     4141 gtccaccaca gtctaaaggt cgagggaagg gaaatgaaat aggattatgt gtggttgcag
     4201 taggctttaa attccaaaga atctgaaggt ggataggaaa gaggactggt gccagacaaa
     4261 tctgacattc taggcctgtc tctgtcaact taaccagctg tggccttgat caagttagtt
     4321 agtgccttcc gcctcgtttc ttcatctgta aagtaaaagc tgaagattaa ggtcaattat
     4381 gtaaagtatg tgtgtcacac aaaagtagat gacactatta ggaaggaggc ttttagatag
     4441 tccctaactg acttctctgt atcttccttt ggctgagact tttttttttt taggttgaag
     4501 ctcgctttct ctctctctcc ctctttctcc ctctctctct ctctctcact ctctctctct
     4561 ccatatatat atacatatat atatatatat atattttttt tttaacaact ggtaggatag
     4621 gttgggcatt agccttcttc agtgatttga ttgtatacag attgaaatcc tttccatttc
     4681 caaacactta agagccaaag ccaacttgcc aacttttcac tgtcggttcc cttaccttat
     4741 atctcttggt aatacccccc acccccgttc cctgattcct ggtaaaagct ctagttggag
     4801 agccgaaagg aaaggaaatg atctttcaaa attaaaggtg aacaccttca cttaaactga
     4861 ttaaaattgc agctccaccg tccggcctct agagggcagt gtatggatac atttgtccag
     4921 attgggggac taggtttgat aaattttgtc ctgcatcaaa tgacaaaagg gtaataggaa
     4981 atgtattata tttatgcccc ttactttgag ataagagact acaaccttca tacttcgggg
     5041 tgttaagctg ccattgctct tgttaagggg cagtttgttt tttaagagat ggggtcttgc
     5101 tctgttgtcc aggctggagt gcagtgccgc gatcttggct cagtgcaacc tcgaactcct
     5161 gggcttaagc gatcctcccg cctcagcctc ccgagtactg ggactacagg cgtgtgccac
     5221 caaggggcga ttattatttt ttttttctac gcaaaataaa agacggctat tca
//
