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2024-03-28 22:13:23, GGRNA : RefSeq release 60 (20130726)

LOCUS       NM_001252036            5299 bp    mRNA    linear   PRI 16-JUN-2013
DEFINITION  Homo sapiens RAB5B, member RAS oncogene family (RAB5B), transcript
            variant 2, mRNA.
ACCESSION   NM_001252036
VERSION     NM_001252036.1  GI:354725901
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 5299)
  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 5299)
  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 5299)
  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 5299)
  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 5299)
  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 5299)
  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 5299)
  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 5299)
  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 5299)
  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 5299)
  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 and BC032740.1.
            
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. 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 :: BC032740.1, BM472546.1 [ECO:0000332]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-63                AC034102.32        187324-187386       c
            64-3317             BC032740.1         12-3265
            3318-5299           AC034102.32        164616-166597       c
FEATURES             Location/Qualifiers
     source          1..5299
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13"
     gene            1..5299
                     /gene="RAB5B"
                     /note="RAB5B, member RAS oncogene family"
                     /db_xref="GeneID:5869"
                     /db_xref="HGNC:9784"
                     /db_xref="MIM:179514"
     exon            1..88
                     /gene="RAB5B"
                     /inference="alignment:Splign:1.39.8"
     variation       16
                     /gene="RAB5B"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:77322402"
     variation       38
                     /gene="RAB5B"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:77494178"
     misc_feature    73..75
                     /gene="RAB5B"
                     /note="upstream in-frame stop codon"
     exon            89..343
                     /gene="RAB5B"
                     /inference="alignment:Splign:1.39.8"
     variation       99
                     /gene="RAB5B"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:191222040"
     variation       125
                     /gene="RAB5B"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:370178643"
     variation       153
                     /gene="RAB5B"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:199632895"
     variation       156
                     /gene="RAB5B"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:202056188"
     CDS             181..828
                     /gene="RAB5B"
                     /note="isoform 1 is encoded by transcript variant 2;
                     ras-related protein Rab-5B"
                     /codon_start=1
                     /product="ras-related protein Rab-5B isoform 1"
                     /protein_id="NP_001238965.1"
                     /db_xref="GI:354725902"
                     /db_xref="CCDS:CCDS8900.1"
                     /db_xref="GeneID:5869"
                     /db_xref="HGNC:9784"
                     /db_xref="MIM:179514"
                     /translation="
MTSRSTARPNGQPQASKICQFKLVLLGESAVGKSSLVLRFVKGQFHEYQESTIGAAFLTQSVCLDDTTVKFEIWDTAGQERYHSLAPMYYRGAQAAIVVYDITNQETFARAKTWVKELQRQASPSIVIALAGNKADLANKRMVEYEEAQAYADDNSLLFMETSAKTAMNVNDLFLAIAKKLPKSEPQNLGGAAGRSRGVDLHEQSQQNKSQCCSN
"
     misc_feature    238..774
                     /gene="RAB5B"
                     /note="Ras-like protein; Provisional; Region: PTZ00369"
                     /db_xref="CDD:240385"
     misc_feature    238..726
                     /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    238..246
                     /gene="RAB5B"
                     /note="Rab subfamily motif 1 (RabSF1); other site"
                     /db_xref="CDD:206653"
     misc_feature    259..282
                     /gene="RAB5B"
                     /note="G1 box; other site"
                     /db_xref="CDD:206653"
     misc_feature    order(265..285,313..318,331..336,412..414,577..582,
                     586..588,667..675)
                     /gene="RAB5B"
                     /note="GTP/Mg2+ binding site [chemical binding]; other
                     site"
                     /db_xref="CDD:206653"
     misc_feature    order(283..318,328..333)
                     /gene="RAB5B"
                     /note="Rab subfamily motif 2 (RabSF2); other site"
                     /db_xref="CDD:206653"
     misc_feature    order(313..315,328..354)
                     /gene="RAB5B"
                     /note="Switch I region; other site"
                     /db_xref="CDD:206653"
     misc_feature    325..351
                     /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(328..330,340..363,382..384,388..390)
                     /gene="RAB5B"
                     /note="putative GEF interaction site [polypeptide
                     binding]; other site"
                     /db_xref="CDD:206653"
     misc_feature    334..336
                     /gene="RAB5B"
                     /note="G2 box; other site"
                     /db_xref="CDD:206653"
     misc_feature    order(337..342,346..348,400..405,424..426,430..432,
                     436..444)
                     /gene="RAB5B"
                     /note="putative GDI interaction site [polypeptide
                     binding]; other site"
                     /db_xref="CDD:206653"
     misc_feature    337..351
                     /gene="RAB5B"
                     /note="Rab family motif 1 (RabF1); other site"
                     /db_xref="CDD:206653"
     misc_feature    order(343..351,355..357,421..423,442..447)
                     /gene="RAB5B"
                     /note="effector interaction site; other site"
                     /db_xref="CDD:206653"
     misc_feature    388..402
                     /gene="RAB5B"
                     /note="Rab family motif 2 (RabF2); other site"
                     /db_xref="CDD:206653"
     misc_feature    403..414
                     /gene="RAB5B"
                     /note="G3 box; other site"
                     /db_xref="CDD:206653"
     misc_feature    order(412..414,418..450)
                     /gene="RAB5B"
                     /note="Switch II region; other site"
                     /db_xref="CDD:206653"
     misc_feature    421..438
                     /gene="RAB5B"
                     /note="Rab family motif 3 (RabF3); other site"
                     /db_xref="CDD:206653"
     misc_feature    445..450
                     /gene="RAB5B"
                     /note="Rab family motif 4 (RabF4); other site"
                     /db_xref="CDD:206653"
     misc_feature    472..489
                     /gene="RAB5B"
                     /note="Rab family motif 5 (RabF5); other site"
                     /db_xref="CDD:206653"
     misc_feature    553..570
                     /gene="RAB5B"
                     /note="Rab subfamily motif 3 (RabSF3); other site"
                     /db_xref="CDD:206653"
     misc_feature    577..588
                     /gene="RAB5B"
                     /note="G4 box; other site"
                     /db_xref="CDD:206653"
     misc_feature    667..675
                     /gene="RAB5B"
                     /note="G5 box; other site"
                     /db_xref="CDD:206653"
     misc_feature    715..723
                     /gene="RAB5B"
                     /note="Rab subfamily motif 4 (RabSF4); other site"
                     /db_xref="CDD:206653"
     variation       209
                     /gene="RAB5B"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:151173738"
     variation       258
                     /gene="RAB5B"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:200823103"
     exon            344..495
                     /gene="RAB5B"
                     /inference="alignment:Splign:1.39.8"
     variation       363
                     /gene="RAB5B"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:140257679"
     variation       379
                     /gene="RAB5B"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:145456965"
     variation       398
                     /gene="RAB5B"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:200178158"
     variation       469
                     /gene="RAB5B"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:146500812"
     variation       471
                     /gene="RAB5B"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:141101772"
     exon            496..618
                     /gene="RAB5B"
                     /inference="alignment:Splign:1.39.8"
     variation       519
                     /gene="RAB5B"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:201304194"
     variation       559
                     /gene="RAB5B"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:140556276"
     exon            619..712
                     /gene="RAB5B"
                     /inference="alignment:Splign:1.39.8"
     variation       623
                     /gene="RAB5B"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:375947629"
     variation       628
                     /gene="RAB5B"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:201470751"
     variation       669
                     /gene="RAB5B"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:2292240"
     variation       687
                     /gene="RAB5B"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:199813423"
     variation       688
                     /gene="RAB5B"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:371700996"
     variation       690
                     /gene="RAB5B"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:144915792"
     exon            713..5299
                     /gene="RAB5B"
                     /inference="alignment:Splign:1.39.8"
     variation       717
                     /gene="RAB5B"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:80286187"
     variation       757
                     /gene="RAB5B"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:375538585"
     variation       766
                     /gene="RAB5B"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:373383204"
     variation       769
                     /gene="RAB5B"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:377046623"
     variation       770
                     /gene="RAB5B"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:201485586"
     variation       771
                     /gene="RAB5B"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:370187474"
     variation       779
                     /gene="RAB5B"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:373831332"
     variation       839
                     /gene="RAB5B"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:377488300"
     variation       840
                     /gene="RAB5B"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:185392988"
     variation       841
                     /gene="RAB5B"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:189968231"
     variation       850
                     /gene="RAB5B"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:200616190"
     variation       868
                     /gene="RAB5B"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:367803941"
     variation       884
                     /gene="RAB5B"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:1050198"
     variation       908
                     /gene="RAB5B"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:11550558"
     variation       1089
                     /gene="RAB5B"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:140669038"
     variation       1119
                     /gene="RAB5B"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:12307159"
     variation       1126
                     /gene="RAB5B"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:11611579"
     variation       1127
                     /gene="RAB5B"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:374752542"
     variation       1142
                     /gene="RAB5B"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:145665894"
     variation       1176
                     /gene="RAB5B"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:3741500"
     variation       1193
                     /gene="RAB5B"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:79669954"
     variation       1256
                     /gene="RAB5B"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:1050200"
     variation       1406
                     /gene="RAB5B"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:185729836"
     variation       1417
                     /gene="RAB5B"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:188482287"
     variation       1462
                     /gene="RAB5B"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:368421639"
     variation       1485
                     /gene="RAB5B"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:1050201"
     variation       1498
                     /gene="RAB5B"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:1050202"
     variation       1499
                     /gene="RAB5B"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:1050203"
     variation       1551..1552
                     /gene="RAB5B"
                     /replace=""
                     /replace="ct"
                     /db_xref="dbSNP:113186187"
     variation       1578
                     /gene="RAB5B"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:148119300"
     variation       1630
                     /gene="RAB5B"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:78564985"
     variation       1641
                     /gene="RAB5B"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:79132668"
     variation       1656
                     /gene="RAB5B"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:1050205"
     variation       1658
                     /gene="RAB5B"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:1050206"
     variation       1661
                     /gene="RAB5B"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:79333113"
     variation       1731
                     /gene="RAB5B"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:1050209"
     variation       1847
                     /gene="RAB5B"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:77597377"
     variation       1867
                     /gene="RAB5B"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:180938710"
     variation       1995
                     /gene="RAB5B"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:370209440"
     variation       2099
                     /gene="RAB5B"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:141821738"
     variation       2240
                     /gene="RAB5B"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:150189189"
     variation       2285
                     /gene="RAB5B"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:138736571"
     STS             2344..2447
                     /gene="RAB5B"
                     /standard_name="RH44840"
                     /db_xref="UniSTS:89878"
     variation       2443
                     /gene="RAB5B"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:7350566"
     variation       2444
                     /gene="RAB5B"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:185902941"
     variation       2508
                     /gene="RAB5B"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:143728615"
     variation       2577
                     /gene="RAB5B"
                     /replace=""
                     /replace="t"
                     /db_xref="dbSNP:34151959"
     STS             2652..2825
                     /gene="RAB5B"
                     /standard_name="RH98226"
                     /db_xref="UniSTS:92502"
     variation       2680
                     /gene="RAB5B"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:192424702"
     variation       2956
                     /gene="RAB5B"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:373881222"
     variation       3001..3002
                     /gene="RAB5B"
                     /replace=""
                     /replace="c"
                     /db_xref="dbSNP:371574885"
     variation       3005
                     /gene="RAB5B"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:147229892"
     variation       3040
                     /gene="RAB5B"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:1050231"
     variation       3046
                     /gene="RAB5B"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:9323"
     variation       3050
                     /gene="RAB5B"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:183872315"
     variation       3139
                     /gene="RAB5B"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:187146028"
     variation       3164
                     /gene="RAB5B"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:11673"
     variation       3196
                     /gene="RAB5B"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:11550559"
     variation       3400
                     /gene="RAB5B"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:191623441"
     variation       3423
                     /gene="RAB5B"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:182724443"
     variation       3549
                     /gene="RAB5B"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:112828948"
     variation       3573
                     /gene="RAB5B"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:187091639"
     variation       3623
                     /gene="RAB5B"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:191538953"
     variation       3721
                     /gene="RAB5B"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:34962186"
     variation       3725
                     /gene="RAB5B"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:77935289"
     variation       3727
                     /gene="RAB5B"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:61937250"
     variation       3751
                     /gene="RAB5B"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:140466173"
     STS             3810..3898
                     /gene="RAB5B"
                     /standard_name="D8S2279"
                     /db_xref="UniSTS:473907"
     variation       3842
                     /gene="RAB5B"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:142807841"
     variation       3847
                     /gene="RAB5B"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:147371885"
     variation       3886
                     /gene="RAB5B"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:144937485"
     variation       3993
                     /gene="RAB5B"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:35105856"
     variation       4125
                     /gene="RAB5B"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:705700"
     variation       4189
                     /gene="RAB5B"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:150930056"
     variation       4255
                     /gene="RAB5B"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:139483301"
     variation       4296
                     /gene="RAB5B"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:143859506"
     variation       4315
                     /gene="RAB5B"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:146878814"
     variation       4346..4349
                     /gene="RAB5B"
                     /replace=""
                     /replace="tagt"
                     /db_xref="dbSNP:77509148"
     variation       4357
                     /gene="RAB5B"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:182310393"
     variation       4397
                     /gene="RAB5B"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:58717357"
     variation       4454
                     /gene="RAB5B"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:11171718"
     variation       4557..4558
                     /gene="RAB5B"
                     /replace=""
                     /replace="ct"
                     /db_xref="dbSNP:139044776"
     variation       4574
                     /gene="RAB5B"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:191633678"
     variation       4587
                     /gene="RAB5B"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:187526536"
     variation       4588..4589
                     /gene="RAB5B"
                     /replace=""
                     /replace="at"
                     /db_xref="dbSNP:34061457"
     variation       4589..4590
                     /gene="RAB5B"
                     /replace=""
                     /replace="atatatatatatatatatat"
                     /db_xref="dbSNP:72297536"
     variation       4600..4619
                     /gene="RAB5B"
                     /replace="catatatatatatatatata"
                     /replace="tatatatatttttttttttt"
                     /db_xref="dbSNP:71457813"
     variation       4600
                     /gene="RAB5B"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:705701"
     variation       4601..4602
                     /gene="RAB5B"
                     /replace=""
                     /replace="at"
                     /db_xref="dbSNP:375903673"
     variation       4617
                     /gene="RAB5B"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:374518488"
     variation       4619
                     /gene="RAB5B"
                     /replace=""
                     /replace="a"
                     /db_xref="dbSNP:201079136"
     variation       4619
                     /gene="RAB5B"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:4759233"
     variation       4620..4621
                     /gene="RAB5B"
                     /replace=""
                     /replace="a"
                     /replace="atatatatatatatattttt"
                     /replace="atattttt"
                     /db_xref="dbSNP:376451058"
     variation       4621..4622
                     /gene="RAB5B"
                     /replace=""
                     /replace="atatatatatatatattttt"
                     /replace="attttt"
                     /db_xref="dbSNP:63191860"
     variation       4621
                     /gene="RAB5B"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:60028217"
     variation       4629..4630
                     /gene="RAB5B"
                     /replace=""
                     /replace="ttttttt"
                     /db_xref="dbSNP:56291639"
     variation       4809
                     /gene="RAB5B"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:11612906"
     variation       4871
                     /gene="RAB5B"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:185511541"
     variation       5019
                     /gene="RAB5B"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:78877196"
     STS             5135..5237
                     /gene="RAB5B"
                     /standard_name="D11S2921"
                     /db_xref="UniSTS:152074"
     variation       5155
                     /gene="RAB5B"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:190463944"
     variation       5196
                     /gene="RAB5B"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:772920"
     variation       5237
                     /gene="RAB5B"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:115698836"
     variation       5262..5263
                     /gene="RAB5B"
                     /replace=""
                     /replace="t"
                     /db_xref="dbSNP:375369217"
     variation       5263
                     /gene="RAB5B"
                     /replace=""
                     /replace="t"
                     /db_xref="dbSNP:143552015"
ORIGIN      
gctcgtacttgttggtgacagcgcccaaagagactcgcctttctccagaggattggtggatgagtgcacatatagcccaccctcgaaggagtgttgaagcctggaaatcccctccccttccccctcccccctttacagtatccccctccctccaccctttcccattctgataatctggccatgactagcagaagcacagctaggcccaatgggcaaccccaggccagcaaaatttgccagttcaaattggtcctgctgggagaatctgcagtgggaaagtcaagcctggtattacgttttgtcaaagggcagttccatgagtaccaggagagcaccattggagcggccttcctcacccagtccgtttgtctagatgacacaacagtgaagtttgagatctgggacacagctgggcaggagcgatatcacagcttagcccccatgtactacaggggtgcccaagctgcaatcgtggtttacgacattactaatcaggaaacctttgcccgagcaaagacatgggtgaaggaactacagcgacaggccagtcctagcatcgttattgccctggcagggaacaaagctgacctggccaacaaacgtatggtggagtatgaagaggcccaggcatatgcagatgacaacagcttattgttcatggagacttcagccaagacagctatgaacgtgaatgatctcttcctggcaatagctaagaagttgccaaagagtgaaccccagaatctgggaggtgcagcaggccgaagccggggtgtggatctccatgaacagtcccagcagaacaagagccagtgttgtagcaactgagggggtggctagcagcaaacaagtatggagctagcacaagagctaagaaataacctccatccctacccctcagcacacaacccctacggtaacagcacactgagccctggctcccaagggctgcctcctgacagctccgtcatggcactttttaacgcttcagcaacaaacaccaggcagctgttgccactggcctcctaccccctactctggggcttgggggtcaactccccccaggacttaccttccaaaacaaactttcttcactttgtattataggtacaagacagcgacttacgtatcttttctcctcctccctagtgttcctccccattttttcagaaaacacttctgactcctgtcccttccccttctgcttttggtcagtccctgttcttgagcctcttttctcctctccccaggatgcagaaagtggtgaacccaggaactgaggaaggaggtttccagttcatttacattaagggccctgggggagaataaagctcagagcaggagggagtaaggaaacatttcctttttgtttttatttggttggagtttctcatatttgaaaacattgcggtatccatgatttggccttgtggagggtgttcctaggtagaggtgagaatggggaggcaagatctcaggcaccaggcaggaggtgccttgtaagctaactgggcggaggtggaggtgcagtgtcaactgtggctctgtaactcttcaaaggcccagtttcccctcacgcagcctcttaggtagcgtttcccctaatcgtgggggttggaccccagagtcttccaaagaattttcactggttgcctgcatctttggctctgctgtgatctgattggaggagggacagtttctggtacccatcctctgatttatacatatgcattttttcccctctggcctttagatggcctcagccccagccaccatatacccctgcagtttgcactttaattgatggtagttcagttggggtacttgttttatggaagttttgattgatttacttgccctcccaccttctttttaattcaatgaaatctgaggttaatgcgaggttcgaggagaggttatagataaaactaccagtggcagctactcaagtcctatctccactgttagcttcctccaactctaattattaacctatattcttgccaagctaactattgactataggtttgcctttcctggagaattaattgagcaattgaggagtgtctcaggatagcacaggccaaggtaggggagtaaaaaggaggtcaggcaaaagggaggagttttctgtcctttcccaggtttcacactcaatttgatatccattaccatgtcttttctacttccttgtaaataggtatgatctttattcccactgtacagtctgttctatcctctgcctcccatcaggccctgtttctttgttcctttgttaatatcttgaatttagtccctccatccttaatccccccatccctccccatcatgcaaccagtggtttaatccatgtaccaataggggctagtaccacagaggcctcctgtggtgccctcgtatcataccacctgttcctgtggagagggaatgaccggcactgaaggtaccttacaactggctcatattatcagaggaccttggtcctttctaaatctctagtctctcttcatatccttcatcaggtgttttaagatgtctctgagaagccatcaaggcaaaagagaactttaagttccttgttccagcccggagttttgggaaagaaagaaaggaaaggtcacagtgacctaggattggaaccttcctgcccttttggcttgcagactgccttctatcccagaacagctgagaaatctatgaagctgagattctgaaggacccagcttaggttcttccacttaggcctcaattcccttccttttccaggggcagccttagttcccatggccctgaaacacacacatttcccccttcctttcccagaagccactggccccccatagcacccagtgcatcctttttacaagtggaagaactaggatggctttccaaagtcttctagaaatgaagttctttctctgtgcagctttcccccttggagcaggagtgaagatgtttcattatcttgggcctgggaaaccacttccccaggcttctccctccccccacccccataggaacaggatttggccttagcttctgggcctatcggctgccttccctctacttcctaccacctcttctgccttcctttgagctctgttgggcttggggatcttagttttcttttgtttatttcccagctcatttttttcttctggtcagtttttttaagggggggtgttgtggttttttgtttttgttttgcttctgagaaagcatttgcctttcttcctctcccaacataacaatcgtggtaacagaatgcgactgctgatttaccgatgtatttaatgtaagtaaaaaaaggaaaaaaagaaaagggcattggagtgttgcttttttttattttattgttattattattattatttttgctatttgtcaggtactaggaatttggaagaaaggatacccagtaatgttctactgaatcagaaacacacctttccctgcatcttgatacatctttattccctttaatcttttcttaaacatctagtttagaaaatagcccttctattgctatttaatcacccctcttctaaggccactagattgttcatcaaatcaaaccctattatatctttttaggccctcttaacagaatgtatatgtgtagggtatggtctgtggatctttgggcccactgatcagattagagagaggggtgctatttgaagtagtatacaaaaatgtatgtgcatatttctttttttttttttaattgagacggagtctctgtcgctagcctggagtacagtggcacgatcttggctcacagcaatctccgcctcctgagttcaagtgattctcctgcctcagcctcctgagtagctaggattacaggcacgcaccaacacacccagctaatttttgtatttttagtagagacggggtttcaccatgttggtcaggctggtcttgaactcctgacctcgtgatccacccaccttggcctcccaaagtgctgggattacgggcgtgagccactgcgcccggccgtatgtgcatatttctaggatccatttctatatgtttctcaaaggggtccatgacccaaaggttgaaaaacatcactgagttagttttcttgtagcttccacctcaacgggaaaatttcctctggatctgctcttgactcctagtgtacttcaaacccttcagtccaccacagtctaaaggtcgagggaagggaaatgaaataggattatgtgtggttgcagtaggctttaaattccaaagaatctgaaggtggataggaaagaggactggtgccagacaaatctgacattctaggcctgtctctgtcaacttaaccagctgtggccttgatcaagttagttagtgccttccgcctcgtttcttcatctgtaaagtaaaagctgaagattaaggtcaattatgtaaagtatgtgtgtcacacaaaagtagatgacactattaggaaggaggcttttagatagtccctaactgacttctctgtatcttcctttggctgagacttttttttttttaggttgaagctcgctttctctctctctccctctttctccctctctctctctctctcactctctctctctccatatatatatacatatatatatatatatatattttttttttaacaactggtaggataggttgggcattagccttcttcagtgatttgattgtatacagattgaaatcctttccatttccaaacacttaagagccaaagccaacttgccaacttttcactgtcggttcccttaccttatatctcttggtaataccccccacccccgttccctgattcctggtaaaagctctagttggagagccgaaaggaaaggaaatgatctttcaaaattaaaggtgaacaccttcacttaaactgattaaaattgcagctccaccgtccggcctctagagggcagtgtatggatacatttgtccagattgggggactaggtttgataaattttgtcctgcatcaaatgacaaaagggtaataggaaatgtattatatttatgccccttactttgagataagagactacaaccttcatacttcggggtgttaagctgccattgctcttgttaaggggcagtttgttttttaagagatggggtcttgctctgttgtccaggctggagtgcagtgccgcgatcttggctcagtgcaacctcgaactcctgggcttaagcgatcctcccgcctcagcctcccgagtactgggactacaggcgtgtgccaccaaggggcgattattattttttttttctacgcaaaataaaagacggctattca
//

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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