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2024-04-20 07:15:49, GGRNA : RefSeq release 60 (20130726)

LOCUS       NM_002868               5340 bp    mRNA    linear   PRI 16-JUN-2013
DEFINITION  Homo sapiens RAB5B, member RAS oncogene family (RAB5B), transcript
            variant 1, mRNA.
ACCESSION   NM_002868
VERSION     NM_002868.3  GI:354725900
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 5340)
  AUTHORS   Tang,X.F., Zhang,Z., Hu,D.Y., Xu,A.E., Zhou,H.S., Sun,L.D., Gao,M.,
            Gao,T.W., Gao,X.H., Chen,H.D., Xie,H.F., Tu,C.X., Hao,F., Wu,R.N.,
            Zhang,F.R., Liang,L., Pu,X.M., Zhang,J.Z., Han,J.W., Pan,G.P.,
            Wu,J.Q., Li,K., Su,M.W., Du,W.D., Zhang,W.J., Liu,J.J., Xiang,L.H.,
            Yang,S., Zhou,Y.W. and Zhang,X.J.
  TITLE     Association analyses identify three susceptibility Loci for
            vitiligo in the Chinese Han population
  JOURNAL   J. Invest. Dermatol. 133 (2), 403-410 (2013)
   PUBMED   22951725
REFERENCE   2  (bases 1 to 5340)
  AUTHORS   Shi,Y., Zhao,H., Shi,Y., Cao,Y., Yang,D., Li,Z., Zhang,B.,
            Liang,X., Li,T., Chen,J., Shen,J., Zhao,J., You,L., Gao,X., Zhu,D.,
            Zhao,X., Yan,Y., Qin,Y., Li,W., Yan,J., Wang,Q., Zhao,J., Geng,L.,
            Ma,J., Zhao,Y., He,G., Zhang,A., Zou,S., Yang,A., Liu,J., Li,W.,
            Li,B., Wan,C., Qin,Y., Shi,J., Yang,J., Jiang,H., Xu,J.E., Qi,X.,
            Sun,Y., Zhang,Y., Hao,C., Ju,X., Zhao,D., Ren,C.E., Li,X.,
            Zhang,W., Zhang,Y., Zhang,J., Wu,D., Zhang,C., He,L. and Chen,Z.J.
  TITLE     Genome-wide association study identifies eight new risk loci for
            polycystic ovary syndrome
  JOURNAL   Nat. Genet. 44 (9), 1020-1025 (2012)
   PUBMED   22885925
REFERENCE   3  (bases 1 to 5340)
  AUTHORS   Chen,P.I., Kong,C., Su,X. and Stahl,P.D.
  TITLE     Rab5 isoforms differentially regulate the trafficking and
            degradation of epidermal growth factor receptors
  JOURNAL   J. Biol. Chem. 284 (44), 30328-30338 (2009)
   PUBMED   19723633
  REMARK    GeneRIF: suppression of Rab5A or 5B hampered the degradation of
            EGFR
REFERENCE   4  (bases 1 to 5340)
  AUTHORS   Shin,N., Jeong,H., Kwon,J., Heo,H.Y., Kwon,J.J., Yun,H.J.,
            Kim,C.H., Han,B.S., Tong,Y., Shen,J., Hatano,T., Hattori,N.,
            Kim,K.S., Chang,S. and Seol,W.
  TITLE     LRRK2 regulates synaptic vesicle endocytosis
  JOURNAL   Exp. Cell Res. 314 (10), 2055-2065 (2008)
   PUBMED   18445495
  REMARK    GeneRIF: Results suggest that LRRK2, in conjunction with its
            interaction with Rab5b, plays an important role in synaptic
            function by modulating the endocytosis of synaptic vesicles.
REFERENCE   5  (bases 1 to 5340)
  AUTHORS   Hakonarson,H., Qu,H.Q., Bradfield,J.P., Marchand,L., Kim,C.E.,
            Glessner,J.T., Grabs,R., Casalunovo,T., Taback,S.P.,
            Frackelton,E.C., Eckert,A.W., Annaiah,K., Lawson,M.L., Otieno,F.G.,
            Santa,E., Shaner,J.L., Smith,R.M., Onyiah,C.C., Skraban,R.,
            Chiavacci,R.M., Robinson,L.J., Stanley,C.A., Kirsch,S.E.,
            Devoto,M., Monos,D.S., Grant,S.F. and Polychronakos,C.
  TITLE     A novel susceptibility locus for type 1 diabetes on Chr12q13
            identified by a genome-wide association study
  JOURNAL   Diabetes 57 (4), 1143-1146 (2008)
   PUBMED   18198356
REFERENCE   6  (bases 1 to 5340)
  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 5340)
  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 5340)
  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 5340)
  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 5340)
  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
            DA811144.1, DA401343.1, BX537408.1 and AC034102.32.
            On Oct 30, 2011 this sequence version replaced gi:33943097.
            
            Transcript Variant: This variant (1) represents the longest
            transcript. Variants 1 and 2 encode the same isoform (1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            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 :: BC040143.1, BX537408.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           ERS025081, ERS025082 [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-24                DA811144.1         1-24
            25-67               DA401343.1         2-44
            68-3363             BX537408.1         2-3297
            3364-5340           AC034102.32        164616-166592       c
FEATURES             Location/Qualifiers
     source          1..5340
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13"
     gene            1..5340
                     /gene="RAB5B"
                     /note="RAB5B, member RAS oncogene family"
                     /db_xref="GeneID:5869"
                     /db_xref="HGNC:9784"
                     /db_xref="HPRD:01544"
                     /db_xref="MIM:179514"
     exon            1..129
                     /gene="RAB5B"
                     /inference="alignment:Splign:1.39.8"
     variation       107
                     /gene="RAB5B"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:75639074"
     exon            130..384
                     /gene="RAB5B"
                     /inference="alignment:Splign:1.39.8"
     variation       140
                     /gene="RAB5B"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:191222040"
     variation       166
                     /gene="RAB5B"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:370178643"
     variation       194
                     /gene="RAB5B"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:199632895"
     variation       197
                     /gene="RAB5B"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:202056188"
     CDS             222..869
                     /gene="RAB5B"
                     /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="GI:4506371"
                     /db_xref="CCDS:CCDS8900.1"
                     /db_xref="GeneID:5869"
                     /db_xref="HGNC:9784"
                     /db_xref="HPRD:01544"
                     /db_xref="MIM:179514"
                     /translation="
MTSRSTARPNGQPQASKICQFKLVLLGESAVGKSSLVLRFVKGQFHEYQESTIGAAFLTQSVCLDDTTVKFEIWDTAGQERYHSLAPMYYRGAQAAIVVYDITNQETFARAKTWVKELQRQASPSIVIALAGNKADLANKRMVEYEEAQAYADDNSLLFMETSAKTAMNVNDLFLAIAKKLPKSEPQNLGGAAGRSRGVDLHEQSQQNKSQCCSN
"
     misc_feature    279..815
                     /gene="RAB5B"
                     /note="Ras-like protein; Provisional; Region: PTZ00369"
                     /db_xref="CDD:240385"
     misc_feature    279..767
                     /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    279..287
                     /gene="RAB5B"
                     /note="Rab subfamily motif 1 (RabSF1); other site"
                     /db_xref="CDD:206653"
     misc_feature    300..323
                     /gene="RAB5B"
                     /note="G1 box; other site"
                     /db_xref="CDD:206653"
     misc_feature    order(306..326,354..359,372..377,453..455,618..623,
                     627..629,708..716)
                     /gene="RAB5B"
                     /note="GTP/Mg2+ binding site [chemical binding]; other
                     site"
                     /db_xref="CDD:206653"
     misc_feature    order(324..359,369..374)
                     /gene="RAB5B"
                     /note="Rab subfamily motif 2 (RabSF2); other site"
                     /db_xref="CDD:206653"
     misc_feature    order(354..356,369..395)
                     /gene="RAB5B"
                     /note="Switch I region; other site"
                     /db_xref="CDD:206653"
     misc_feature    366..392
                     /gene="RAB5B"
                     /inference="non-experimental evidence, no additional
                     details recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (P61020.1);
                     Region: Effector region (Potential)"
     misc_feature    order(369..371,381..404,423..425,429..431)
                     /gene="RAB5B"
                     /note="putative GEF interaction site [polypeptide
                     binding]; other site"
                     /db_xref="CDD:206653"
     misc_feature    375..377
                     /gene="RAB5B"
                     /note="G2 box; other site"
                     /db_xref="CDD:206653"
     misc_feature    order(378..383,387..389,441..446,465..467,471..473,
                     477..485)
                     /gene="RAB5B"
                     /note="putative GDI interaction site [polypeptide
                     binding]; other site"
                     /db_xref="CDD:206653"
     misc_feature    378..392
                     /gene="RAB5B"
                     /note="Rab family motif 1 (RabF1); other site"
                     /db_xref="CDD:206653"
     misc_feature    order(384..392,396..398,462..464,483..488)
                     /gene="RAB5B"
                     /note="effector interaction site; other site"
                     /db_xref="CDD:206653"
     misc_feature    429..443
                     /gene="RAB5B"
                     /note="Rab family motif 2 (RabF2); other site"
                     /db_xref="CDD:206653"
     misc_feature    444..455
                     /gene="RAB5B"
                     /note="G3 box; other site"
                     /db_xref="CDD:206653"
     misc_feature    order(453..455,459..491)
                     /gene="RAB5B"
                     /note="Switch II region; other site"
                     /db_xref="CDD:206653"
     misc_feature    462..479
                     /gene="RAB5B"
                     /note="Rab family motif 3 (RabF3); other site"
                     /db_xref="CDD:206653"
     misc_feature    486..491
                     /gene="RAB5B"
                     /note="Rab family motif 4 (RabF4); other site"
                     /db_xref="CDD:206653"
     misc_feature    513..530
                     /gene="RAB5B"
                     /note="Rab family motif 5 (RabF5); other site"
                     /db_xref="CDD:206653"
     misc_feature    588..590
                     /gene="RAB5B"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="phosphorylation site"
                     /citation=[7]
                     /db_xref="HPRD:00302"
     misc_feature    594..611
                     /gene="RAB5B"
                     /note="Rab subfamily motif 3 (RabSF3); other site"
                     /db_xref="CDD:206653"
     misc_feature    618..629
                     /gene="RAB5B"
                     /note="G4 box; other site"
                     /db_xref="CDD:206653"
     misc_feature    708..716
                     /gene="RAB5B"
                     /note="G5 box; other site"
                     /db_xref="CDD:206653"
     misc_feature    756..764
                     /gene="RAB5B"
                     /note="Rab subfamily motif 4 (RabSF4); other site"
                     /db_xref="CDD:206653"
     variation       250
                     /gene="RAB5B"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:151173738"
     variation       299
                     /gene="RAB5B"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:200823103"
     exon            385..536
                     /gene="RAB5B"
                     /inference="alignment:Splign:1.39.8"
     variation       404
                     /gene="RAB5B"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:140257679"
     variation       420
                     /gene="RAB5B"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:145456965"
     variation       439
                     /gene="RAB5B"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:200178158"
     variation       510
                     /gene="RAB5B"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:146500812"
     variation       512
                     /gene="RAB5B"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:141101772"
     exon            537..659
                     /gene="RAB5B"
                     /inference="alignment:Splign:1.39.8"
     variation       560
                     /gene="RAB5B"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:201304194"
     variation       600
                     /gene="RAB5B"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:140556276"
     exon            660..753
                     /gene="RAB5B"
                     /inference="alignment:Splign:1.39.8"
     variation       664
                     /gene="RAB5B"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:375947629"
     variation       669
                     /gene="RAB5B"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:201470751"
     variation       710
                     /gene="RAB5B"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:2292240"
     variation       728
                     /gene="RAB5B"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:199813423"
     variation       729
                     /gene="RAB5B"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:371700996"
     variation       731
                     /gene="RAB5B"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:144915792"
     exon            754..5340
                     /gene="RAB5B"
                     /inference="alignment:Splign:1.39.8"
     variation       758
                     /gene="RAB5B"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:80286187"
     variation       798
                     /gene="RAB5B"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:375538585"
     variation       807
                     /gene="RAB5B"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:373383204"
     variation       810
                     /gene="RAB5B"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:377046623"
     variation       811
                     /gene="RAB5B"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:201485586"
     variation       812
                     /gene="RAB5B"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:370187474"
     variation       820
                     /gene="RAB5B"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:373831332"
     variation       880
                     /gene="RAB5B"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:377488300"
     variation       881
                     /gene="RAB5B"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:185392988"
     variation       882
                     /gene="RAB5B"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:189968231"
     variation       891
                     /gene="RAB5B"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:200616190"
     variation       909
                     /gene="RAB5B"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:367803941"
     variation       925
                     /gene="RAB5B"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:1050198"
     variation       949
                     /gene="RAB5B"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:11550558"
     variation       1130
                     /gene="RAB5B"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:140669038"
     variation       1160
                     /gene="RAB5B"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:12307159"
     variation       1167
                     /gene="RAB5B"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:11611579"
     variation       1168
                     /gene="RAB5B"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:374752542"
     variation       1183
                     /gene="RAB5B"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:145665894"
     variation       1217
                     /gene="RAB5B"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:3741500"
     variation       1234
                     /gene="RAB5B"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:79669954"
     variation       1297
                     /gene="RAB5B"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:1050200"
     variation       1447
                     /gene="RAB5B"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:185729836"
     variation       1458
                     /gene="RAB5B"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:188482287"
     variation       1503
                     /gene="RAB5B"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:368421639"
     variation       1526
                     /gene="RAB5B"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:1050201"
     variation       1539
                     /gene="RAB5B"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:1050202"
     variation       1540
                     /gene="RAB5B"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:1050203"
     variation       1592..1593
                     /gene="RAB5B"
                     /replace=""
                     /replace="ct"
                     /db_xref="dbSNP:113186187"
     variation       1619
                     /gene="RAB5B"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:148119300"
     variation       1671
                     /gene="RAB5B"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:78564985"
     variation       1682
                     /gene="RAB5B"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:79132668"
     variation       1697
                     /gene="RAB5B"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:1050205"
     variation       1699
                     /gene="RAB5B"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:1050206"
     variation       1702
                     /gene="RAB5B"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:79333113"
     variation       1772
                     /gene="RAB5B"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:1050209"
     variation       1888
                     /gene="RAB5B"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:77597377"
     variation       1908
                     /gene="RAB5B"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:180938710"
     variation       2036
                     /gene="RAB5B"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:370209440"
     variation       2140
                     /gene="RAB5B"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:141821738"
     variation       2281
                     /gene="RAB5B"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:150189189"
     variation       2326
                     /gene="RAB5B"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:138736571"
     STS             2385..2488
                     /gene="RAB5B"
                     /standard_name="RH44840"
                     /db_xref="UniSTS:89878"
     variation       2484
                     /gene="RAB5B"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:7350566"
     variation       2485
                     /gene="RAB5B"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:185902941"
     variation       2549
                     /gene="RAB5B"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:143728615"
     variation       2618
                     /gene="RAB5B"
                     /replace=""
                     /replace="t"
                     /db_xref="dbSNP:34151959"
     STS             2693..2866
                     /gene="RAB5B"
                     /standard_name="RH98226"
                     /db_xref="UniSTS:92502"
     variation       2721
                     /gene="RAB5B"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:192424702"
     variation       2997
                     /gene="RAB5B"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:373881222"
     variation       3042..3043
                     /gene="RAB5B"
                     /replace=""
                     /replace="c"
                     /db_xref="dbSNP:371574885"
     variation       3046
                     /gene="RAB5B"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:147229892"
     variation       3081
                     /gene="RAB5B"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:1050231"
     variation       3087
                     /gene="RAB5B"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:9323"
     variation       3091
                     /gene="RAB5B"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:183872315"
     variation       3180
                     /gene="RAB5B"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:187146028"
     variation       3205
                     /gene="RAB5B"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:11673"
     variation       3237
                     /gene="RAB5B"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:11550559"
     variation       3441
                     /gene="RAB5B"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:191623441"
     variation       3464
                     /gene="RAB5B"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:182724443"
     variation       3590
                     /gene="RAB5B"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:112828948"
     variation       3614
                     /gene="RAB5B"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:187091639"
     variation       3664
                     /gene="RAB5B"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:191538953"
     variation       3762
                     /gene="RAB5B"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:34962186"
     variation       3766
                     /gene="RAB5B"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:77935289"
     variation       3768
                     /gene="RAB5B"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:61937250"
     variation       3792
                     /gene="RAB5B"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:140466173"
     STS             3851..3939
                     /gene="RAB5B"
                     /standard_name="D8S2279"
                     /db_xref="UniSTS:473907"
     variation       3883
                     /gene="RAB5B"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:142807841"
     variation       3888
                     /gene="RAB5B"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:147371885"
     variation       3927
                     /gene="RAB5B"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:144937485"
     variation       4034
                     /gene="RAB5B"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:35105856"
     variation       4166
                     /gene="RAB5B"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:705700"
     variation       4230
                     /gene="RAB5B"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:150930056"
     variation       4296
                     /gene="RAB5B"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:139483301"
     variation       4337
                     /gene="RAB5B"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:143859506"
     variation       4356
                     /gene="RAB5B"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:146878814"
     variation       4387..4390
                     /gene="RAB5B"
                     /replace=""
                     /replace="tagt"
                     /db_xref="dbSNP:77509148"
     variation       4398
                     /gene="RAB5B"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:182310393"
     variation       4438
                     /gene="RAB5B"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:58717357"
     variation       4495
                     /gene="RAB5B"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:11171718"
     variation       4598..4599
                     /gene="RAB5B"
                     /replace=""
                     /replace="ct"
                     /db_xref="dbSNP:139044776"
     variation       4615
                     /gene="RAB5B"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:191633678"
     variation       4628
                     /gene="RAB5B"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:187526536"
     variation       4629..4630
                     /gene="RAB5B"
                     /replace=""
                     /replace="at"
                     /db_xref="dbSNP:34061457"
     variation       4630..4631
                     /gene="RAB5B"
                     /replace=""
                     /replace="atatatatatatatatatat"
                     /db_xref="dbSNP:72297536"
     variation       4641..4660
                     /gene="RAB5B"
                     /replace="catatatatatatatatata"
                     /replace="tatatatatttttttttttt"
                     /db_xref="dbSNP:71457813"
     variation       4641
                     /gene="RAB5B"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:705701"
     variation       4642..4643
                     /gene="RAB5B"
                     /replace=""
                     /replace="at"
                     /db_xref="dbSNP:375903673"
     variation       4658
                     /gene="RAB5B"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:374518488"
     variation       4660
                     /gene="RAB5B"
                     /replace=""
                     /replace="a"
                     /db_xref="dbSNP:201079136"
     variation       4660
                     /gene="RAB5B"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:4759233"
     variation       4661..4662
                     /gene="RAB5B"
                     /replace=""
                     /replace="a"
                     /replace="atatatatatatatattttt"
                     /replace="atattttt"
                     /db_xref="dbSNP:376451058"
     variation       4662..4663
                     /gene="RAB5B"
                     /replace=""
                     /replace="atatatatatatatattttt"
                     /replace="attttt"
                     /db_xref="dbSNP:63191860"
     variation       4662
                     /gene="RAB5B"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:60028217"
     variation       4670..4671
                     /gene="RAB5B"
                     /replace=""
                     /replace="ttttttt"
                     /db_xref="dbSNP:56291639"
     variation       4850
                     /gene="RAB5B"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:11612906"
     variation       4912
                     /gene="RAB5B"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:185511541"
     variation       5060
                     /gene="RAB5B"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:78877196"
     STS             5176..5278
                     /gene="RAB5B"
                     /standard_name="D11S2921"
                     /db_xref="UniSTS:152074"
     variation       5196
                     /gene="RAB5B"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:190463944"
     variation       5237
                     /gene="RAB5B"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:772920"
     variation       5278
                     /gene="RAB5B"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:115698836"
     variation       5303..5304
                     /gene="RAB5B"
                     /replace=""
                     /replace="t"
                     /db_xref="dbSNP:375369217"
     variation       5304
                     /gene="RAB5B"
                     /replace=""
                     /replace="t"
                     /db_xref="dbSNP:143552015"
ORIGIN      
aatcgagctattggctggagccccgccccagggcgaggaggagaaggaggggcaggagggtttggttgagctgcagctgtttgtctgttcgacacaggcttggggccgacgggggagacggagccccaggagtgttgaagcctggaaatcccctccccttccccctcccccctttacagtatccccctccctccaccctttcccattctgataatctggccatgactagcagaagcacagctaggcccaatgggcaaccccaggccagcaaaatttgccagttcaaattggtcctgctgggagaatctgcagtgggaaagtcaagcctggtattacgttttgtcaaagggcagttccatgagtaccaggagagcaccattggagcggccttcctcacccagtccgtttgtctagatgacacaacagtgaagtttgagatctgggacacagctgggcaggagcgatatcacagcttagcccccatgtactacaggggtgcccaagctgcaatcgtggtttacgacattactaatcaggaaacctttgcccgagcaaagacatgggtgaaggaactacagcgacaggccagtcctagcatcgttattgccctggcagggaacaaagctgacctggccaacaaacgtatggtggagtatgaagaggcccaggcatatgcagatgacaacagcttattgttcatggagacttcagccaagacagctatgaacgtgaatgatctcttcctggcaatagctaagaagttgccaaagagtgaaccccagaatctgggaggtgcagcaggccgaagccggggtgtggatctccatgaacagtcccagcagaacaagagccagtgttgtagcaactgagggggtggctagcagcaaacaagtatggagctagcacaagagctaagaaataacctccatccctacccctcagcacacaacccctacggtaacagcacactgagccctggctcccaagggctgcctcctgacagctccgtcatggcactttttaacgcttcagcaacaaacaccaggcagctgttgccactggcctcctaccccctactctggggcttgggggtcaactccccccaggacttaccttccaaaacaaactttcttcactttgtattataggtacaagacagcgacttacgtatcttttctcctcctccctagtgttcctccccattttttcagaaaacacttctgactcctgtcccttccccttctgcttttggtcagtccctgttcttgagcctcttttctcctctccccaggatgcagaaagtggtgaacccaggaactgaggaaggaggtttccagttcatttacattaagggccctgggggagaataaagctcagagcaggagggagtaaggaaacatttcctttttgtttttatttggttggagtttctcatatttgaaaacattgcggtatccatgatttggccttgtggagggtgttcctaggtagaggtgagaatggggaggcaagatctcaggcaccaggcaggaggtgccttgtaagctaactgggcggaggtggaggtgcagtgtcaactgtggctctgtaactcttcaaaggcccagtttcccctcacgcagcctcttaggtagcgtttcccctaatcgtgggggttggaccccagagtcttccaaagaattttcactggttgcctgcatctttggctctgctgtgatctgattggaggagggacagtttctggtacccatcctctgatttatacatatgcattttttcccctctggcctttagatggcctcagccccagccaccatatacccctgcagtttgcactttaattgatggtagttcagttggggtacttgttttatggaagttttgattgatttacttgccctcccaccttctttttaattcaatgaaatctgaggttaatgcgaggttcgaggagaggttatagataaaactaccagtggcagctactcaagtcctatctccactgttagcttcctccaactctaattattaacctatattcttgccaagctaactattgactataggtttgcctttcctggagaattaattgagcaattgaggagtgtctcaggatagcacaggccaaggtaggggagtaaaaaggaggtcaggcaaaagggaggagttttctgtcctttcccaggtttcacactcaatttgatatccattaccatgtcttttctacttccttgtaaataggtatgatctttattcccactgtacagtctgttctatcctctgcctcccatcaggccctgtttctttgttcctttgttaatatcttgaatttagtccctccatccttaatccccccatccctccccatcatgcaaccagtggtttaatccatgtaccaataggggctagtaccacagaggcctcctgtggtgccctcgtatcataccacctgttcctgtggagagggaatgaccggcactgaaggtaccttacaactggctcatattatcagaggaccttggtcctttctaaatctctagtctctcttcatatccttcatcaggtgttttaagatgtctctgagaagccatcaaggcaaaagagaactttaagttccttgttccagcccggagttttgggaaagaaagaaaggaaaggtcacagtgacctaggattggaaccttcctgcccttttggcttgcagactgccttctatcccagaacagctgagaaatctatgaagctgagattctgaaggacccagcttaggttcttccacttaggcctcaattcccttccttttccaggggcagccttagttcccatggccctgaaacacacacatttcccccttcctttcccagaagccactggccccccatagcacccagtgcatcctttttacaagtggaagaactaggatggctttccaaagtcttctagaaatgaagttctttctctgtgcagctttcccccttggagcaggagtgaagatgtttcattatcttgggcctgggaaaccacttccccaggcttctccctccccccacccccataggaacaggatttggccttagcttctgggcctatcggctgccttccctctacttcctaccacctcttctgccttcctttgagctctgttgggcttggggatcttagttttcttttgtttatttcccagctcatttttttcttctggtcagtttttttaagggggggtgttgtggttttttgtttttgttttgcttctgagaaagcatttgcctttcttcctctcccaacataacaatcgtggtaacagaatgcgactgctgatttaccgatgtatttaatgtaagtaaaaaaaggaaaaaaagaaaagggcattggagtgttgcttttttttattttattgttattattattattatttttgctatttgtcaggtactaggaatttggaagaaaggatacccagtaatgttctactgaatcagaaacacacctttccctgcatcttgatacatctttattccctttaatcttttcttaaacatctagtttagaaaatagcccttctattgctatttaatcacccctcttctaaggccactagattgttcatcaaatcaaaccctattatatctttttaggccctcttaacagaatgtatatgtgtagggtatggtctgtggatctttgggcccactgatcagattagagagaggggtgctatttgaagtagtatacaaaaatgtatgtgcatatttctttttttttttttaattgagacggagtctctgtcgctagcctggagtacagtggcacgatcttggctcacagcaatctccgcctcctgagttcaagtgattctcctgcctcagcctcctgagtagctaggattacaggcacgcaccaacacacccagctaatttttgtatttttagtagagacggggtttcaccatgttggtcaggctggtcttgaactcctgacctcgtgatccacccaccttggcctcccaaagtgctgggattacgggcgtgagccactgcgcccggccgtatgtgcatatttctaggatccatttctatatgtttctcaaaggggtccatgacccaaaggttgaaaaacatcactgagttagttttcttgtagcttccacctcaacgggaaaatttcctctggatctgctcttgactcctagtgtacttcaaacccttcagtccaccacagtctaaaggtcgagggaagggaaatgaaataggattatgtgtggttgcagtaggctttaaattccaaagaatctgaaggtggataggaaagaggactggtgccagacaaatctgacattctaggcctgtctctgtcaacttaaccagctgtggccttgatcaagttagttagtgccttccgcctcgtttcttcatctgtaaagtaaaagctgaagattaaggtcaattatgtaaagtatgtgtgtcacacaaaagtagatgacactattaggaaggaggcttttagatagtccctaactgacttctctgtatcttcctttggctgagacttttttttttttaggttgaagctcgctttctctctctctccctctttctccctctctctctctctctcactctctctctctccatatatatatacatatatatatatatatatattttttttttaacaactggtaggataggttgggcattagccttcttcagtgatttgattgtatacagattgaaatcctttccatttccaaacacttaagagccaaagccaacttgccaacttttcactgtcggttcccttaccttatatctcttggtaataccccccacccccgttccctgattcctggtaaaagctctagttggagagccgaaaggaaaggaaatgatctttcaaaattaaaggtgaacaccttcacttaaactgattaaaattgcagctccaccgtccggcctctagagggcagtgtatggatacatttgtccagattgggggactaggtttgataaattttgtcctgcatcaaatgacaaaagggtaataggaaatgtattatatttatgccccttactttgagataagagactacaaccttcatacttcggggtgttaagctgccattgctcttgttaaggggcagtttgttttttaagagatggggtcttgctctgttgtccaggctggagtgcagtgccgcgatcttggctcagtgcaacctcgaactcctgggcttaagcgatcctcccgcctcagcctcccgagtactgggactacaggcgtgtgccaccaaggggcgattattattttttttttctacgcaaaataaaagacggctattca
//

Annotations:

ANNOTATIONS from NCBI Entrez Gene (20130726):
            GeneID:5869 -> Molecular function: GO:0003924 [GTPase activity] evidence: TAS
            GeneID:5869 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
            GeneID:5869 -> Molecular function: GO:0005525 [GTP binding] evidence: IEA
            GeneID:5869 -> Molecular function: GO:0019003 [GDP binding] evidence: IDA
            GeneID:5869 -> Molecular function: GO:0030742 [GTP-dependent protein binding] evidence: IDA
            GeneID:5869 -> Biological process: GO:0006184 [GTP catabolic process] evidence: TAS
            GeneID:5869 -> Biological process: GO:0007032 [endosome organization] evidence: IEA
            GeneID:5869 -> Biological process: GO:0007264 [small GTPase mediated signal transduction] evidence: IEA
            GeneID:5869 -> Biological process: GO:0015031 [protein transport] evidence: IEA
            GeneID:5869 -> Biological process: GO:0030100 [regulation of endocytosis] evidence: IEA
            GeneID:5869 -> Cellular component: GO:0005622 [intracellular] evidence: IDA
            GeneID:5869 -> Cellular component: GO:0005768 [endosome] evidence: IDA
            GeneID:5869 -> Cellular component: GO:0005886 [plasma membrane] evidence: IEA
            GeneID:5869 -> Cellular component: GO:0016020 [membrane] evidence: TAS
            GeneID:5869 -> Cellular component: GO:0030139 [endocytic vesicle] evidence: IEA
            GeneID:5869 -> Cellular component: GO:0031901 [early endosome membrane] evidence: IEA
            GeneID:5869 -> Cellular component: GO:0042470 [melanosome] evidence: IEA

by @meso_cacase at DBCLS
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