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2024-03-29 00:44:14, GGRNA : RefSeq release 60 (20130726)

LOCUS       NM_001252037            5217 bp    mRNA    linear   PRI 16-JUN-2013
DEFINITION  Homo sapiens RAB5B, member RAS oncogene family (RAB5B), transcript
            variant 3, mRNA.
ACCESSION   NM_001252037
VERSION     NM_001252037.1  GI:354721178
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 5217)
  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 5217)
  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 5217)
  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 5217)
  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 5217)
  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 5217)
  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 5217)
  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 5217)
  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 5217)
  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 5217)
  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, AK296517.1 and AC034102.32.
            
            Transcript Variant: This variant (3) lacks an exon in the coding
            region but maintains the reading frame, compared to variant 1. the
            encoded isoform (2) is shorter than 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 :: AK296517.1, DA414526.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           ERS025086, ERS025091 [ECO:0000348]
            ##Evidence-Data-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-24                DA811144.1         1-24
            25-90               DA401343.1         2-67
            91-1620             AK296517.1         1-1530
            1621-5217           AC034102.32        164616-168212       c
FEATURES             Location/Qualifiers
     source          1..5217
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13"
     gene            1..5217
                     /gene="RAB5B"
                     /note="RAB5B, member RAS oncogene family"
                     /db_xref="GeneID:5869"
                     /db_xref="HGNC:9784"
                     /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..746
                     /gene="RAB5B"
                     /note="isoform 2 is encoded by transcript variant 3;
                     ras-related protein Rab-5B"
                     /codon_start=1
                     /product="ras-related protein Rab-5B isoform 2"
                     /protein_id="NP_001238966.1"
                     /db_xref="GI:354721179"
                     /db_xref="CCDS:CCDS58244.1"
                     /db_xref="GeneID:5869"
                     /db_xref="HGNC:9784"
                     /db_xref="MIM:179514"
                     /translation="
MTSRSTARPNGQPQASKICQFKLVLLGESAVGKSSLVLRFVKGQFHEYQESTIGAAFLTQSVCLDDTTVKFEIWDTAGQERYHSLAPMYYRGAQAAIVVYDITNQEAQAYADDNSLLFMETSAKTAMNVNDLFLAIAKKLPKSEPQNLGGAAGRSRGVDLHEQSQQNKSQCCSN
"
     misc_feature    279..692
                     /gene="RAB5B"
                     /note="Ras-like protein; Provisional; Region: PTZ00369"
                     /db_xref="CDD:240385"
     misc_feature    279..644
                     /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..455,585..593)
                     /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    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    585..593
                     /gene="RAB5B"
                     /note="G5 box; other site"
                     /db_xref="CDD:206653"
     misc_feature    633..641
                     /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..630
                     /gene="RAB5B"
                     /inference="alignment:Splign:1.39.8"
     variation       541
                     /gene="RAB5B"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:375947629"
     variation       546
                     /gene="RAB5B"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:201470751"
     variation       587
                     /gene="RAB5B"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:2292240"
     variation       605
                     /gene="RAB5B"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:199813423"
     variation       606
                     /gene="RAB5B"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:371700996"
     variation       608
                     /gene="RAB5B"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:144915792"
     exon            631..5217
                     /gene="RAB5B"
                     /inference="alignment:Splign:1.39.8"
     variation       635
                     /gene="RAB5B"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:80286187"
     variation       675
                     /gene="RAB5B"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:375538585"
     variation       684
                     /gene="RAB5B"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:373383204"
     variation       687
                     /gene="RAB5B"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:377046623"
     variation       688
                     /gene="RAB5B"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:201485586"
     variation       689
                     /gene="RAB5B"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:370187474"
     variation       697
                     /gene="RAB5B"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:373831332"
     variation       757
                     /gene="RAB5B"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:377488300"
     variation       758
                     /gene="RAB5B"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:185392988"
     variation       759
                     /gene="RAB5B"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:189968231"
     variation       768
                     /gene="RAB5B"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:200616190"
     variation       786
                     /gene="RAB5B"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:367803941"
     variation       802
                     /gene="RAB5B"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:1050198"
     variation       826
                     /gene="RAB5B"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:11550558"
     variation       1007
                     /gene="RAB5B"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:140669038"
     variation       1037
                     /gene="RAB5B"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:12307159"
     variation       1044
                     /gene="RAB5B"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:11611579"
     variation       1045
                     /gene="RAB5B"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:374752542"
     variation       1060
                     /gene="RAB5B"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:145665894"
     variation       1094
                     /gene="RAB5B"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:3741500"
     variation       1111
                     /gene="RAB5B"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:79669954"
     variation       1174
                     /gene="RAB5B"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:1050200"
     variation       1324
                     /gene="RAB5B"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:185729836"
     variation       1335
                     /gene="RAB5B"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:188482287"
     variation       1380
                     /gene="RAB5B"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:368421639"
     variation       1403
                     /gene="RAB5B"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:1050201"
     variation       1416
                     /gene="RAB5B"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:1050202"
     variation       1417
                     /gene="RAB5B"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:1050203"
     variation       1469..1470
                     /gene="RAB5B"
                     /replace=""
                     /replace="ct"
                     /db_xref="dbSNP:113186187"
     variation       1496
                     /gene="RAB5B"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:148119300"
     variation       1548
                     /gene="RAB5B"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:78564985"
     variation       1559
                     /gene="RAB5B"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:79132668"
     variation       1574
                     /gene="RAB5B"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:1050205"
     variation       1576
                     /gene="RAB5B"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:1050206"
     variation       1579
                     /gene="RAB5B"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:79333113"
     variation       1649
                     /gene="RAB5B"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:1050209"
     variation       1765
                     /gene="RAB5B"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:77597377"
     variation       1785
                     /gene="RAB5B"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:180938710"
     variation       1913
                     /gene="RAB5B"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:370209440"
     variation       2017
                     /gene="RAB5B"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:141821738"
     variation       2158
                     /gene="RAB5B"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:150189189"
     variation       2203
                     /gene="RAB5B"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:138736571"
     STS             2262..2365
                     /gene="RAB5B"
                     /standard_name="RH44840"
                     /db_xref="UniSTS:89878"
     variation       2361
                     /gene="RAB5B"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:7350566"
     variation       2362
                     /gene="RAB5B"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:185902941"
     variation       2426
                     /gene="RAB5B"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:143728615"
     variation       2495
                     /gene="RAB5B"
                     /replace=""
                     /replace="t"
                     /db_xref="dbSNP:34151959"
     STS             2570..2743
                     /gene="RAB5B"
                     /standard_name="RH98226"
                     /db_xref="UniSTS:92502"
     variation       2598
                     /gene="RAB5B"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:192424702"
     variation       2874
                     /gene="RAB5B"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:373881222"
     variation       2919..2920
                     /gene="RAB5B"
                     /replace=""
                     /replace="c"
                     /db_xref="dbSNP:371574885"
     variation       2923
                     /gene="RAB5B"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:147229892"
     variation       2958
                     /gene="RAB5B"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:1050231"
     variation       2964
                     /gene="RAB5B"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:9323"
     variation       2968
                     /gene="RAB5B"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:183872315"
     variation       3057
                     /gene="RAB5B"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:187146028"
     variation       3082
                     /gene="RAB5B"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:11673"
     variation       3114
                     /gene="RAB5B"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:11550559"
     variation       3318
                     /gene="RAB5B"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:191623441"
     variation       3341
                     /gene="RAB5B"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:182724443"
     variation       3467
                     /gene="RAB5B"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:112828948"
     variation       3491
                     /gene="RAB5B"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:187091639"
     variation       3541
                     /gene="RAB5B"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:191538953"
     variation       3639
                     /gene="RAB5B"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:34962186"
     variation       3643
                     /gene="RAB5B"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:77935289"
     variation       3645
                     /gene="RAB5B"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:61937250"
     variation       3669
                     /gene="RAB5B"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:140466173"
     STS             3728..3816
                     /gene="RAB5B"
                     /standard_name="D8S2279"
                     /db_xref="UniSTS:473907"
     variation       3760
                     /gene="RAB5B"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:142807841"
     variation       3765
                     /gene="RAB5B"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:147371885"
     variation       3804
                     /gene="RAB5B"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:144937485"
     variation       3911
                     /gene="RAB5B"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:35105856"
     variation       4043
                     /gene="RAB5B"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:705700"
     variation       4107
                     /gene="RAB5B"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:150930056"
     variation       4173
                     /gene="RAB5B"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:139483301"
     variation       4214
                     /gene="RAB5B"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:143859506"
     variation       4233
                     /gene="RAB5B"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:146878814"
     variation       4264..4267
                     /gene="RAB5B"
                     /replace=""
                     /replace="tagt"
                     /db_xref="dbSNP:77509148"
     variation       4275
                     /gene="RAB5B"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:182310393"
     variation       4315
                     /gene="RAB5B"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:58717357"
     variation       4372
                     /gene="RAB5B"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:11171718"
     variation       4475..4476
                     /gene="RAB5B"
                     /replace=""
                     /replace="ct"
                     /db_xref="dbSNP:139044776"
     variation       4492
                     /gene="RAB5B"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:191633678"
     variation       4505
                     /gene="RAB5B"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:187526536"
     variation       4506..4507
                     /gene="RAB5B"
                     /replace=""
                     /replace="at"
                     /db_xref="dbSNP:34061457"
     variation       4507..4508
                     /gene="RAB5B"
                     /replace=""
                     /replace="atatatatatatatatatat"
                     /db_xref="dbSNP:72297536"
     variation       4518..4537
                     /gene="RAB5B"
                     /replace="catatatatatatatatata"
                     /replace="tatatatatttttttttttt"
                     /db_xref="dbSNP:71457813"
     variation       4518
                     /gene="RAB5B"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:705701"
     variation       4519..4520
                     /gene="RAB5B"
                     /replace=""
                     /replace="at"
                     /db_xref="dbSNP:375903673"
     variation       4535
                     /gene="RAB5B"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:374518488"
     variation       4537
                     /gene="RAB5B"
                     /replace=""
                     /replace="a"
                     /db_xref="dbSNP:201079136"
     variation       4537
                     /gene="RAB5B"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:4759233"
     variation       4538..4539
                     /gene="RAB5B"
                     /replace=""
                     /replace="a"
                     /replace="atatatatatatatattttt"
                     /replace="atattttt"
                     /db_xref="dbSNP:376451058"
     variation       4539..4540
                     /gene="RAB5B"
                     /replace=""
                     /replace="atatatatatatatattttt"
                     /replace="attttt"
                     /db_xref="dbSNP:63191860"
     variation       4539
                     /gene="RAB5B"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:60028217"
     variation       4547..4548
                     /gene="RAB5B"
                     /replace=""
                     /replace="ttttttt"
                     /db_xref="dbSNP:56291639"
     variation       4727
                     /gene="RAB5B"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:11612906"
     variation       4789
                     /gene="RAB5B"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:185511541"
     variation       4937
                     /gene="RAB5B"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:78877196"
     STS             5053..5155
                     /gene="RAB5B"
                     /standard_name="D11S2921"
                     /db_xref="UniSTS:152074"
     variation       5073
                     /gene="RAB5B"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:190463944"
     variation       5114
                     /gene="RAB5B"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:772920"
     variation       5155
                     /gene="RAB5B"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:115698836"
     variation       5180..5181
                     /gene="RAB5B"
                     /replace=""
                     /replace="t"
                     /db_xref="dbSNP:375369217"
     variation       5181
                     /gene="RAB5B"
                     /replace=""
                     /replace="t"
                     /db_xref="dbSNP:143552015"
ORIGIN      
aatcgagctattggctggagccccgccccagggcgaggaggagaaggaggggcaggagggtttggttgagctgcagctgtttgtctgttcgacacaggcttggggccgacgggggagacggagccccaggagtgttgaagcctggaaatcccctccccttccccctcccccctttacagtatccccctccctccaccctttcccattctgataatctggccatgactagcagaagcacagctaggcccaatgggcaaccccaggccagcaaaatttgccagttcaaattggtcctgctgggagaatctgcagtgggaaagtcaagcctggtattacgttttgtcaaagggcagttccatgagtaccaggagagcaccattggagcggccttcctcacccagtccgtttgtctagatgacacaacagtgaagtttgagatctgggacacagctgggcaggagcgatatcacagcttagcccccatgtactacaggggtgcccaagctgcaatcgtggtttacgacattactaatcaggaggcccaggcatatgcagatgacaacagcttattgttcatggagacttcagccaagacagctatgaacgtgaatgatctcttcctggcaatagctaagaagttgccaaagagtgaaccccagaatctgggaggtgcagcaggccgaagccggggtgtggatctccatgaacagtcccagcagaacaagagccagtgttgtagcaactgagggggtggctagcagcaaacaagtatggagctagcacaagagctaagaaataacctccatccctacccctcagcacacaacccctacggtaacagcacactgagccctggctcccaagggctgcctcctgacagctccgtcatggcactttttaacgcttcagcaacaaacaccaggcagctgttgccactggcctcctaccccctactctggggcttgggggtcaactccccccaggacttaccttccaaaacaaactttcttcactttgtattataggtacaagacagcgacttacgtatcttttctcctcctccctagtgttcctccccattttttcagaaaacacttctgactcctgtcccttccccttctgcttttggtcagtccctgttcttgagcctcttttctcctctccccaggatgcagaaagtggtgaacccaggaactgaggaaggaggtttccagttcatttacattaagggccctgggggagaataaagctcagagcaggagggagtaaggaaacatttcctttttgtttttatttggttggagtttctcatatttgaaaacattgcggtatccatgatttggccttgtggagggtgttcctaggtagaggtgagaatggggaggcaagatctcaggcaccaggcaggaggtgccttgtaagctaactgggcggaggtggaggtgcagtgtcaactgtggctctgtaactcttcaaaggcccagtttcccctcacgcagcctcttaggtagcgtttcccctaatcgtgggggttggaccccagagtcttccaaagaattttcactggttgcctgcatctttggctctgctgtgatctgattggaggagggacagtttctggtacccatcctctgatttatacatatgcattttttcccctctggcctttagatggcctcagccccagccaccatatacccctgcagtttgcactttaattgatggtagttcagttggggtacttgttttatggaagttttgattgatttacttgccctcccaccttctttttaattcaatgaaatctgaggttaatgcgaggttcgaggagaggttatagataaaactaccagtggcagctactcaagtcctatctccactgttagcttcctccaactctaattattaacctatattcttgccaagctaactattgactataggtttgcctttcctggagaattaattgagcaattgaggagtgtctcaggatagcacaggccaaggtaggggagtaaaaaggaggtcaggcaaaagggaggagttttctgtcctttcccaggtttcacactcaatttgatatccattaccatgtcttttctacttccttgtaaataggtatgatctttattcccactgtacagtctgttctatcctctgcctcccatcaggccctgtttctttgttcctttgttaatatcttgaatttagtccctccatccttaatccccccatccctccccatcatgcaaccagtggtttaatccatgtaccaataggggctagtaccacagaggcctcctgtggtgccctcgtatcataccacctgttcctgtggagagggaatgaccggcactgaaggtaccttacaactggctcatattatcagaggaccttggtcctttctaaatctctagtctctcttcatatccttcatcaggtgttttaagatgtctctgagaagccatcaaggcaaaagagaactttaagttccttgttccagcccggagttttgggaaagaaagaaaggaaaggtcacagtgacctaggattggaaccttcctgcccttttggcttgcagactgccttctatcccagaacagctgagaaatctatgaagctgagattctgaaggacccagcttaggttcttccacttaggcctcaattcccttccttttccaggggcagccttagttcccatggccctgaaacacacacatttcccccttcctttcccagaagccactggccccccatagcacccagtgcatcctttttacaagtggaagaactaggatggctttccaaagtcttctagaaatgaagttctttctctgtgcagctttcccccttggagcaggagtgaagatgtttcattatcttgggcctgggaaaccacttccccaggcttctccctccccccacccccataggaacaggatttggccttagcttctgggcctatcggctgccttccctctacttcctaccacctcttctgccttcctttgagctctgttgggcttggggatcttagttttcttttgtttatttcccagctcatttttttcttctggtcagtttttttaagggggggtgttgtggttttttgtttttgttttgcttctgagaaagcatttgcctttcttcctctcccaacataacaatcgtggtaacagaatgcgactgctgatttaccgatgtatttaatgtaagtaaaaaaaggaaaaaaagaaaagggcattggagtgttgcttttttttattttattgttattattattattatttttgctatttgtcaggtactaggaatttggaagaaaggatacccagtaatgttctactgaatcagaaacacacctttccctgcatcttgatacatctttattccctttaatcttttcttaaacatctagtttagaaaatagcccttctattgctatttaatcacccctcttctaaggccactagattgttcatcaaatcaaaccctattatatctttttaggccctcttaacagaatgtatatgtgtagggtatggtctgtggatctttgggcccactgatcagattagagagaggggtgctatttgaagtagtatacaaaaatgtatgtgcatatttctttttttttttttaattgagacggagtctctgtcgctagcctggagtacagtggcacgatcttggctcacagcaatctccgcctcctgagttcaagtgattctcctgcctcagcctcctgagtagctaggattacaggcacgcaccaacacacccagctaatttttgtatttttagtagagacggggtttcaccatgttggtcaggctggtcttgaactcctgacctcgtgatccacccaccttggcctcccaaagtgctgggattacgggcgtgagccactgcgcccggccgtatgtgcatatttctaggatccatttctatatgtttctcaaaggggtccatgacccaaaggttgaaaaacatcactgagttagttttcttgtagcttccacctcaacgggaaaatttcctctggatctgctcttgactcctagtgtacttcaaacccttcagtccaccacagtctaaaggtcgagggaagggaaatgaaataggattatgtgtggttgcagtaggctttaaattccaaagaatctgaaggtggataggaaagaggactggtgccagacaaatctgacattctaggcctgtctctgtcaacttaaccagctgtggccttgatcaagttagttagtgccttccgcctcgtttcttcatctgtaaagtaaaagctgaagattaaggtcaattatgtaaagtatgtgtgtcacacaaaagtagatgacactattaggaaggaggcttttagatagtccctaactgacttctctgtatcttcctttggctgagacttttttttttttaggttgaagctcgctttctctctctctccctctttctccctctctctctctctctcactctctctctctccatatatatatacatatatatatatatatatattttttttttaacaactggtaggataggttgggcattagccttcttcagtgatttgattgtatacagattgaaatcctttccatttccaaacacttaagagccaaagccaacttgccaacttttcactgtcggttcccttaccttatatctcttggtaataccccccacccccgttccctgattcctggtaaaagctctagttggagagccgaaaggaaaggaaatgatctttcaaaattaaaggtgaacaccttcacttaaactgattaaaattgcagctccaccgtccggcctctagagggcagtgtatggatacatttgtccagattgggggactaggtttgataaattttgtcctgcatcaaatgacaaaagggtaataggaaatgtattatatttatgccccttactttgagataagagactacaaccttcatacttcggggtgttaagctgccattgctcttgttaaggggcagtttgttttttaagagatggggtcttgctctgttgtccaggctggagtgcagtgccgcgatcttggctcagtgcaacctcgaactcctgggcttaagcgatcctcccgcctcagcctcccgagtactgggactacaggcgtgtgccaccaaggggcgattattattttttttttctacgcaaaataaaagacggctattca
//

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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