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2024-04-19 22:01:34, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001083585 5322 bp mRNA linear PRI 17-APR-2013
DEFINITION Homo sapiens rabaptin, RAB GTPase binding effector protein 1
(RABEP1), transcript variant 2, mRNA.
ACCESSION NM_001083585
VERSION NM_001083585.1 GI:134152673
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 5322)
AUTHORS Ninkovic,M., Mitkovski,M., Kohl,T., Stuhmer,W. and Pardo,L.A.
TITLE Physical and functional interaction of KV10.1 with Rabaptin-5
impacts ion channel trafficking
JOURNAL FEBS Lett. 586 (19), 3077-3084 (2012)
PUBMED 22841712
REMARK GeneRIF: Silencing of Rabaptin-5 induces down-regulation of
recycling of K(V)10.1 channel in transfected cells and reduction of
K(V)10.1 current density in cells natively expressing K(V)10.1,
indicating a role of Rabaptin-5 in channel trafficking.
REFERENCE 2 (bases 1 to 5322)
AUTHORS Christoforides,C., Rainero,E., Brown,K.K., Norman,J.C. and Toker,A.
TITLE PKD controls alphavbeta3 integrin recycling and tumor cell invasive
migration through its substrate Rabaptin-5
JOURNAL Dev. Cell 23 (3), 560-572 (2012)
PUBMED 22975325
REMARK GeneRIF: The disruption of Rabaptin-5 Ser407 phosphorylation
reduces persistent cell migration in 2D and alphavbeta3-dependent
invasion.
REFERENCE 3 (bases 1 to 5322)
AUTHORS Yan,G.R., Xu,S.H., Tan,Z.L., Liu,L. and He,Q.Y.
TITLE Global identification of miR-373-regulated genes in breast cancer
by quantitative proteomics
JOURNAL Proteomics 11 (5), 912-920 (2011)
PUBMED 21271679
REMARK GeneRIF: Breast cancer cell line studies showed that microRNA,
miR-373, was capable of promoting breast cancer invasion and
metastasis via translational inhibition of TXNIP and RABEP1 that
were the direct target genes of miR-373.
REFERENCE 4 (bases 1 to 5322)
AUTHORS Burrack,L.S., Harper,J.W. and Higgins,D.E.
TITLE Perturbation of vacuolar maturation promotes listeriolysin
O-independent vacuolar escape during Listeria monocytogenes
infection of human cells
JOURNAL Cell. Microbiol. 11 (9), 1382-1398 (2009)
PUBMED 19500109
REMARK GeneRIF: The authors determined that increased listeriolysin
O-independent dissolution of vacuoles during RABEP1 knockdown
required the Listeria monocytogenes broad-range phospholipase C
(PC-PLC).
REFERENCE 5 (bases 1 to 5322)
AUTHORS Mattera,R., Tsai,Y.C., Weissman,A.M. and Bonifacino,J.S.
TITLE The Rab5 guanine nucleotide exchange factor Rabex-5 binds ubiquitin
(Ub) and functions as a Ub ligase through an atypical
Ub-interacting motif and a zinc finger domain
JOURNAL J. Biol. Chem. 281 (10), 6874-6883 (2006)
PUBMED 16407276
REFERENCE 6 (bases 1 to 5322)
AUTHORS Swanton,E., Bishop,N. and Woodman,P.
TITLE Human rabaptin-5 is selectively cleaved by caspase-3 during
apoptosis
JOURNAL J. Biol. Chem. 274 (53), 37583-37590 (1999)
PUBMED 10608812
REFERENCE 7 (bases 1 to 5322)
AUTHORS Neve,R.L., Coopersmith,R., McPhie,D.L., Santeufemio,C., Pratt,K.G.,
Murphy,C.J. and Lynn,S.D.
TITLE The neuronal growth-associated protein GAP-43 interacts with
rabaptin-5 and participates in endocytosis
JOURNAL J. Neurosci. 18 (19), 7757-7767 (1998)
PUBMED 9742146
REFERENCE 8 (bases 1 to 5322)
AUTHORS Vitale,G., Rybin,V., Christoforidis,S., Thornqvist,P.,
McCaffrey,M., Stenmark,H. and Zerial,M.
TITLE Distinct Rab-binding domains mediate the interaction of Rabaptin-5
with GTP-bound Rab4 and Rab5
JOURNAL EMBO J. 17 (7), 1941-1951 (1998)
PUBMED 9524117
REFERENCE 9 (bases 1 to 5322)
AUTHORS Xiao,G.H., Shoarinejad,F., Jin,F., Golemis,E.A. and Yeung,R.S.
TITLE The tuberous sclerosis 2 gene product, tuberin, functions as a Rab5
GTPase activating protein (GAP) in modulating endocytosis
JOURNAL J. Biol. Chem. 272 (10), 6097-6100 (1997)
PUBMED 9045618
REFERENCE 10 (bases 1 to 5322)
AUTHORS Stenmark,H., Vitale,G., Ullrich,O. and Zerial,M.
TITLE Rabaptin-5 is a direct effector of the small GTPase Rab5 in
endocytic membrane fusion
JOURNAL Cell 83 (3), 423-432 (1995)
PUBMED 8521472
COMMENT VALIDATED REFSEQ: This record has undergone validation or
preliminary review. The reference sequence was derived from
DB169027.1, BC041700.1, AF098638.1, X91141.1, AL157499.1 and
AA873800.1.
Transcript Variant: This variant (2) lacks an alternate in-frame
exon in the 3' coding region, compared to variant 1. The resulting
protein (isoform 2) is shorter than isoform 1.
Publication Note: This RefSeq record includes a subset of the
publications that are available for this gene. Please see the Gene
record to access additional publications.
##Evidence-Data-START##
Transcript exon combination :: AF098638.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025082, ERS025084 [ECO:0000348]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-560 DB169027.1 1-560
561-2278 BC041700.1 527-2244
2279-2714 AF098638.1 2055-2490
2715-2902 X91141.1 2778-2965
2903-3232 BC041700.1 2968-3297
3233-4116 AL157499.1 68-951
4117-4117 AA873800.1 53-53 c
4118-5322 AL157499.1 953-2157
FEATURES Location/Qualifiers
source 1..5322
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="17"
/map="17p13.2"
gene 1..5322
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/note="rabaptin, RAB GTPase binding effector protein 1"
/db_xref="GeneID:9135"
/db_xref="HGNC:17677"
/db_xref="MIM:603616"
exon 1..258
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/inference="alignment:Splign:1.39.8"
variation 92
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="a"
/replace="c"
/db_xref="dbSNP:184578037"
variation 107
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="c"
/replace="t"
/db_xref="dbSNP:11538946"
variation 123
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="a"
/replace="c"
/db_xref="dbSNP:1565752"
misc_feature 138..140
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/note="upstream in-frame stop codon"
CDS 225..2714
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/note="isoform 2 is encoded by transcript variant 2; rab
GTPase-binding effector protein 1; rabaptin-5;
neurocrescin; rabaptin-4; rabaptin-5alpha; renal carcinoma
antigen NY-REN-17"
/codon_start=1
/product="rab GTPase-binding effector protein 1 isoform 2"
/protein_id="NP_001077054.1"
/db_xref="GI:134152674"
/db_xref="CCDS:CCDS42243.1"
/db_xref="GeneID:9135"
/db_xref="HGNC:17677"
/db_xref="MIM:603616"
/translation="
MAQPGPASQPDVSLQQRVAELEKINAEFLRAQQQLEQEFNQKRAKFKELYLAKEEDLKRQNAVLQAAQDDLGHLRTQLWEAQAEMENIKAIATVSENTKQEAIDEVKRQWREEVASLQAVMKETVRDYEHQFHLRLEQERTQWAQYRESAEREIADLRRRLSEGQEEENLENEMKKAQEDAEKLRSVVMPMEKEIAALKDKLTEAEDKIKELEASKVKELNHYLEAEKSCRTDLEMYVAVLNTQKSVLQEDAEKLRKELHEVCHLLEQERQQHNQLKHTWQKANDQFLESQRLLMRDMQRMEIVLTSEQLRQVEELKKKDQEDDEQQRLNKRKDHKKADVEEEIKIPVVCALTQEESSAQLSNEEEHLDSTRGSVHSLDAGLLLPSGDPFSKSDNDMFKDGLRRAQSTDSLGTSGSLQSKALGYNYKAKSAGNLDESDFGPLVGADSVSENFDTASLGSLQMPSGFMLTKDQERAIKAMTPEQEETASLLSSVTQGMESAYVSPSGYRLVSETEWNLLQKEVHNAGNKLGRRCDMCSNYEKQLQGIQIQEAETRDQVKKLQLMLRQANDQLEKTMKDKQELEDFIKQSSEDSSHQISALVLRAQASEILLEELQQGLSQAKRDVQEQMAVLMQSREQVSEELVRLQKDNDSLQGKHSLHVSLQQAEDFILPDTTEALRELVLKYREDIINVRTAADHVEEKLKAEILFLKEQIQAEQCLKENLEETLQLEIENCKEEIASISSLKAELERIKVEKGQATVEQLMFEEKNKAQRLQTELDVSEQVQRDFVKLSQTLQVQLERIRQADSLERIRAILNDTKLTDINQLPET
"
misc_feature 489..809
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/note="Rabaptin; Region: Rabaptin; pfam03528"
/db_xref="CDD:146261"
misc_feature 1443..1445
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
misc_feature 1446..1448
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
misc_feature 1452..1454
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
misc_feature 1605..2012
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/note="Rabaptin; Region: Rabaptin; pfam03528"
/db_xref="CDD:146261"
misc_feature 2058..2546
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/note="Rabaptin-like protein; Region: Rab5-bind;
pfam09311"
/db_xref="CDD:117853"
variation 236
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="c"
/replace="g"
/db_xref="dbSNP:113034830"
variation 241
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="c"
/replace="t"
/db_xref="dbSNP:372030022"
exon 259..387
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/inference="alignment:Splign:1.39.8"
variation 262
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="c"
/replace="g"
/db_xref="dbSNP:372045538"
variation 268
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="a"
/replace="g"
/db_xref="dbSNP:375332590"
variation 278
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="a"
/replace="t"
/db_xref="dbSNP:371680479"
variation 312
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="c"
/replace="t"
/db_xref="dbSNP:376687369"
variation 385
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="a"
/replace="t"
/db_xref="dbSNP:370090458"
exon 388..591
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/inference="alignment:Splign:1.39.8"
variation 393
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="c"
/replace="t"
/db_xref="dbSNP:372747704"
variation 443
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="c"
/replace="t"
/db_xref="dbSNP:78899149"
variation 473
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="a"
/replace="g"
/db_xref="dbSNP:368820303"
variation 559
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="a"
/replace="g"
/db_xref="dbSNP:372488968"
exon 592..752
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/inference="alignment:Splign:1.39.8"
variation 607
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="a"
/replace="g"
/db_xref="dbSNP:370985634"
variation 611
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="a"
/replace="g"
/db_xref="dbSNP:375091328"
variation 670
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="a"
/replace="c"
/db_xref="dbSNP:1065480"
variation 709
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="c"
/replace="g"
/db_xref="dbSNP:200718785"
exon 753..872
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/inference="alignment:Splign:1.39.8"
variation 789
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="a"
/replace="t"
/db_xref="dbSNP:201634585"
variation 841
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="a"
/replace="g"
/db_xref="dbSNP:372672063"
exon 873..1008
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/inference="alignment:Splign:1.39.8"
variation 879
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="a"
/replace="g"
/db_xref="dbSNP:372923791"
variation 905
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="a"
/replace="g"
/db_xref="dbSNP:376940880"
variation 912
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="c"
/replace="t"
/db_xref="dbSNP:369037371"
variation 995
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="a"
/replace="g"
/db_xref="dbSNP:369342265"
exon 1009..1187
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/inference="alignment:Splign:1.39.8"
variation 1019
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="c"
/replace="t"
/db_xref="dbSNP:374140401"
variation 1037
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="a"
/replace="c"
/db_xref="dbSNP:377671603"
variation 1061
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="a"
/replace="g"
/db_xref="dbSNP:370603812"
variation 1099
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="a"
/replace="g"
/db_xref="dbSNP:374038199"
variation 1100
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="c"
/replace="t"
/db_xref="dbSNP:200338444"
variation 1123
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="a"
/replace="g"
/db_xref="dbSNP:370208524"
exon 1188..1319
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/inference="alignment:Splign:1.39.8"
variation 1211
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="a"
/replace="c"
/db_xref="dbSNP:372362667"
variation 1222
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="a"
/replace="c"
/db_xref="dbSNP:368428117"
variation 1269
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="c"
/replace="g"
/db_xref="dbSNP:370910672"
variation 1270
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="c"
/replace="t"
/db_xref="dbSNP:201986373"
variation 1287
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="a"
/replace="g"
/db_xref="dbSNP:375323638"
variation 1294
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="c"
/replace="t"
/db_xref="dbSNP:369010650"
variation 1299
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="a"
/replace="g"
/db_xref="dbSNP:372589870"
exon 1320..1787
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/inference="alignment:Splign:1.39.8"
variation 1324
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="a"
/replace="g"
/db_xref="dbSNP:371040739"
variation 1370
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="g"
/replace="t"
/db_xref="dbSNP:74771727"
variation 1403
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="a"
/replace="g"
/db_xref="dbSNP:111228095"
variation 1430
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="c"
/replace="t"
/db_xref="dbSNP:187351051"
variation 1457
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="c"
/replace="g"
/db_xref="dbSNP:370884892"
variation 1473
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="c"
/replace="t"
/db_xref="dbSNP:201180289"
variation 1496
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="c"
/replace="t"
/db_xref="dbSNP:367786803"
variation 1536
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="c"
/replace="g"
/db_xref="dbSNP:202200366"
variation 1548
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="c"
/replace="t"
/db_xref="dbSNP:199932695"
variation 1579
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="a"
/replace="t"
/db_xref="dbSNP:370978186"
variation 1623
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="a"
/replace="t"
/db_xref="dbSNP:374566844"
variation 1658
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="a"
/replace="g"
/db_xref="dbSNP:368265039"
variation 1682
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="a"
/replace="g"
/db_xref="dbSNP:376591000"
variation 1699
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="a"
/replace="g"
/db_xref="dbSNP:368057078"
variation 1700
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="c"
/replace="t"
/db_xref="dbSNP:376520114"
variation 1719
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="a"
/replace="c"
/db_xref="dbSNP:76397270"
variation 1720
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:79636407"
variation 1726
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="c"
/replace="t"
/db_xref="dbSNP:35814010"
variation 1727
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="c"
/replace="t"
/db_xref="dbSNP:199700136"
variation 1730
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="a"
/replace="g"
/db_xref="dbSNP:377248078"
variation 1731..1732
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace=""
/replace="c"
/db_xref="dbSNP:34196773"
variation 1733
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="a"
/replace="g"
/db_xref="dbSNP:34594998"
variation 1756
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="c"
/replace="g"
/db_xref="dbSNP:3744710"
variation 1777
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="c"
/replace="t"
/db_xref="dbSNP:374230932"
exon 1788..1892
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/inference="alignment:Splign:1.39.8"
variation 1788
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="a"
/replace="g"
/db_xref="dbSNP:373107009"
variation 1818
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="c"
/replace="t"
/db_xref="dbSNP:370945647"
variation 1882
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="c"
/replace="t"
/db_xref="dbSNP:374594228"
exon 1893..2009
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/inference="alignment:Splign:1.39.8"
variation 1977
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="a"
/replace="g"
/db_xref="dbSNP:370213848"
variation 1985
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="a"
/replace="t"
/db_xref="dbSNP:374438602"
variation 1989
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="a"
/replace="g"
/db_xref="dbSNP:376419007"
variation 2006
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="a"
/replace="c"
/db_xref="dbSNP:371641660"
exon 2010..2108
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/inference="alignment:Splign:1.39.8"
variation 2022
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="a"
/replace="g"
/db_xref="dbSNP:368640006"
variation 2024
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="c"
/replace="t"
/db_xref="dbSNP:117426331"
variation 2049
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="c"
/replace="t"
/db_xref="dbSNP:200720513"
variation 2093
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="c"
/replace="t"
/db_xref="dbSNP:375335078"
variation 2108
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="c"
/replace="g"
/db_xref="dbSNP:61735455"
exon 2109..2249
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/inference="alignment:Splign:1.39.8"
variation 2110
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="c"
/replace="t"
/db_xref="dbSNP:200240030"
variation 2111
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="a"
/replace="g"
/db_xref="dbSNP:3026098"
variation 2121
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="c"
/replace="g"
/db_xref="dbSNP:369353649"
variation 2127
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="c"
/replace="t"
/db_xref="dbSNP:372513782"
variation 2143
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="a"
/replace="g"
/db_xref="dbSNP:3026099"
variation 2203
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="g"
/replace="t"
/db_xref="dbSNP:202219375"
variation 2208
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="g"
/replace="t"
/db_xref="dbSNP:375580172"
variation 2222
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="a"
/replace="c"
/db_xref="dbSNP:371219620"
variation 2244
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="a"
/replace="g"
/db_xref="dbSNP:200444793"
exon 2250..2439
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/inference="alignment:Splign:1.39.8"
variation 2279
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="c"
/replace="t"
/db_xref="dbSNP:3026101"
variation 2294
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="g"
/replace="t"
/db_xref="dbSNP:372194926"
variation 2299
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="a"
/replace="g"
/db_xref="dbSNP:376780265"
variation 2312
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="a"
/replace="c"
/db_xref="dbSNP:200529956"
variation 2351
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="a"
/replace="c"
/db_xref="dbSNP:145963170"
variation 2396
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="a"
/replace="g"
/db_xref="dbSNP:369161618"
variation 2409
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="a"
/replace="c"
/db_xref="dbSNP:372943290"
exon 2440..2495
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/inference="alignment:Splign:1.39.8"
exon 2496..2612
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/inference="alignment:Splign:1.39.8"
variation 2501
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="a"
/replace="c"
/db_xref="dbSNP:117554009"
variation 2502
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="a"
/replace="g"
/db_xref="dbSNP:368832529"
variation 2503
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="c"
/replace="t"
/db_xref="dbSNP:200797949"
variation 2510
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="a"
/replace="g"
/db_xref="dbSNP:1143206"
variation 2513
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="g"
/replace="t"
/db_xref="dbSNP:34807204"
variation 2531
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="c"
/replace="t"
/db_xref="dbSNP:1065482"
variation 2540
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="a"
/replace="g"
/db_xref="dbSNP:368890873"
variation 2549
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="a"
/replace="g"
/db_xref="dbSNP:373053621"
variation 2576
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="c"
/replace="t"
/db_xref="dbSNP:375087746"
variation 2582
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="a"
/replace="g"
/db_xref="dbSNP:1065483"
exon 2613..5303
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/inference="alignment:Splign:1.39.8"
variation 2627
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="g"
/replace="t"
/db_xref="dbSNP:201548868"
variation 2658
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="c"
/replace="t"
/db_xref="dbSNP:200798233"
variation 2659
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="a"
/replace="g"
/db_xref="dbSNP:372729268"
variation 2715
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="c"
/replace="t"
/db_xref="dbSNP:377190314"
variation 2717
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="c"
/replace="t"
/db_xref="dbSNP:370619994"
STS 2718..2893
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/standard_name="SHGC-35667"
/db_xref="UniSTS:32978"
variation 2721
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="c"
/replace="g"
/db_xref="dbSNP:3026116"
variation 2759
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="c"
/replace="t"
/db_xref="dbSNP:367839964"
variation 2888
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="c"
/replace="t"
/db_xref="dbSNP:8703"
STS 2902..3035
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/standard_name="STS-H59437"
/db_xref="UniSTS:51195"
variation 2921
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="c"
/replace="t"
/db_xref="dbSNP:190144422"
variation 2929
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="a"
/replace="g"
/db_xref="dbSNP:148765935"
STS 2943..3028
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/standard_name="RH67786"
/db_xref="UniSTS:75782"
variation 2947
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="a"
/replace="t"
/db_xref="dbSNP:192904794"
variation 2986
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="a"
/replace="g"
/db_xref="dbSNP:184092543"
variation 3014
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="c"
/replace="g"
/db_xref="dbSNP:141536554"
variation 3040
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="c"
/replace="t"
/db_xref="dbSNP:188091510"
variation 3047
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="c"
/replace="t"
/db_xref="dbSNP:3026117"
variation 3055..3056
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace=""
/replace="c"
/db_xref="dbSNP:36040319"
variation 3058..3082
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace=""
/replace="tagtgtttggaattttctgttcata"
/db_xref="dbSNP:56107242"
variation 3076
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="g"
/replace="t"
/db_xref="dbSNP:375387576"
variation 3080
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="a"
/replace="c"
/db_xref="dbSNP:147613014"
variation 3081
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="a"
/replace="t"
/db_xref="dbSNP:140058663"
variation 3082
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="a"
/replace="g"
/db_xref="dbSNP:142959934"
variation 3083
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="g"
/replace="t"
/db_xref="dbSNP:112464644"
variation 3089
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="g"
/replace="t"
/db_xref="dbSNP:368940953"
variation 3131
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="g"
/replace="t"
/db_xref="dbSNP:372400455"
variation 3140
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="a"
/replace="t"
/db_xref="dbSNP:180904622"
variation 3173
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="c"
/replace="g"
/db_xref="dbSNP:375726079"
variation 3229..3230
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace=""
/replace="ctcagtacat"
/replace="tttcccttgctcagtacat"
/db_xref="dbSNP:368453212"
variation 3230..3231
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace=""
/replace="tttcccttgctcagtacat"
/db_xref="dbSNP:72234725"
variation 3232..3233
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace=""
/replace="ccct"
/replace="cccttgctcagtacatttt"
/db_xref="dbSNP:56069601"
variation 3232
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="g"
/replace="t"
/db_xref="dbSNP:3026118"
variation 3234..3235
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace=""
/replace="c"
/db_xref="dbSNP:56073140"
variation 3234
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="c"
/replace="g"
/db_xref="dbSNP:200445829"
variation 3235..3236
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace=""
/replace="cag"
/db_xref="dbSNP:56336052"
variation 3235
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="c"
/replace="t"
/db_xref="dbSNP:74848003"
variation 3236..3237
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace=""
/replace="aca"
/db_xref="dbSNP:76212708"
variation 3238
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:78605317"
variation 3239
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="c"
/replace="t"
/db_xref="dbSNP:55733178"
variation 3240
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="c"
/replace="t"
/db_xref="dbSNP:56156529"
variation 3241
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="c"
/replace="t"
/db_xref="dbSNP:201680070"
variation 3245
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="a"
/replace="t"
/db_xref="dbSNP:56197832"
variation 3248
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="a"
/replace="t"
/db_xref="dbSNP:62075143"
variation 3251..3255
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace=""
/replace="ttatc"
/db_xref="dbSNP:147887596"
variation 3252..3253
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace=""
/replace="cc"
/db_xref="dbSNP:75871618"
variation 3252
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="a"
/replace="t"
/db_xref="dbSNP:62075144"
variation 3253..3257
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace=""
/replace="atctt"
/db_xref="dbSNP:10600896"
variation 3254
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="c"
/replace="t"
/db_xref="dbSNP:77011217"
variation 3255
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="c"
/replace="t"
/db_xref="dbSNP:3026119"
variation 3255
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace=""
/replace="ttatc"
/db_xref="dbSNP:112689900"
variation 3289..3290
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace=""
/replace="aactt"
/db_xref="dbSNP:138680610"
variation 3378
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="a"
/replace="c"
/db_xref="dbSNP:186148537"
variation 3404
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="a"
/replace="g"
/db_xref="dbSNP:190652700"
variation 3469
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace=""
/replace="g"
/db_xref="dbSNP:55741020"
variation 3471
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="g"
/replace="t"
/db_xref="dbSNP:80143816"
variation 3515
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="a"
/replace="g"
/db_xref="dbSNP:181506116"
variation 3553
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="a"
/replace="g"
/db_xref="dbSNP:73976338"
variation 3586
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="a"
/replace="g"
/db_xref="dbSNP:3026120"
variation 3589
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="c"
/replace="t"
/db_xref="dbSNP:186937095"
variation 3625
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="a"
/replace="t"
/db_xref="dbSNP:191782499"
variation 3637
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="g"
/replace="t"
/db_xref="dbSNP:150883726"
variation 3646
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="c"
/replace="t"
/db_xref="dbSNP:373497423"
variation 3648
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="a"
/replace="g"
/db_xref="dbSNP:377310124"
variation 3682
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="c"
/replace="t"
/db_xref="dbSNP:139586767"
variation 3756
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="c"
/replace="t"
/db_xref="dbSNP:75763763"
variation 3772
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="c"
/replace="t"
/db_xref="dbSNP:181225031"
variation 3796
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="a"
/replace="g"
/db_xref="dbSNP:75766639"
variation 3944
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="a"
/replace="g"
/db_xref="dbSNP:75248780"
STS 4028..4163
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/standard_name="D17S1401E"
/db_xref="UniSTS:150449"
variation 4063
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="c"
/replace="g"
/db_xref="dbSNP:144304662"
STS 4073..4198
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/standard_name="WI-12505"
/db_xref="UniSTS:6506"
variation 4095
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="c"
/replace="t"
/db_xref="dbSNP:374735868"
variation 4117
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="c"
/replace="g"
/db_xref="dbSNP:11558"
variation 4188..4189
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="a"
/replace="g"
/db_xref="dbSNP:3087574"
variation 4189
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="a"
/replace="g"
/db_xref="dbSNP:1058381"
variation 4244
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="a"
/replace="g"
/db_xref="dbSNP:1806219"
variation 4254..4258
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace=""
/replace="aataa"
/db_xref="dbSNP:16419"
variation 4255
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="a"
/replace="t"
/db_xref="dbSNP:201774585"
variation 4257..4261
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace=""
/replace="tttta"
/db_xref="dbSNP:56226738"
variation 4257
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:112438868"
variation 4258
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="a"
/replace="t"
/db_xref="dbSNP:76525133"
variation 4292
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="c"
/replace="t"
/db_xref="dbSNP:185846046"
variation 4349
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="a"
/replace="t"
/db_xref="dbSNP:112183144"
variation 4350
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="a"
/replace="t"
/db_xref="dbSNP:10792"
variation 4360
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="a"
/replace="g"
/db_xref="dbSNP:189725850"
variation 4374
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="c"
/replace="t"
/db_xref="dbSNP:1058383"
variation 4411
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="c"
/replace="t"
/db_xref="dbSNP:146046492"
variation 4510
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="a"
/replace="c"
/db_xref="dbSNP:182298386"
variation 4550
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="c"
/replace="g"
/db_xref="dbSNP:114993922"
variation 4661
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="a"
/replace="t"
/db_xref="dbSNP:187716330"
variation 4663
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="c"
/replace="t"
/db_xref="dbSNP:1806220"
variation 4779
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace=""
/replace="c"
/db_xref="dbSNP:140941108"
variation 4825
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="c"
/replace="t"
/db_xref="dbSNP:140048599"
variation 4858
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="g"
/replace="t"
/db_xref="dbSNP:377266283"
variation 4931
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="a"
/replace="g"
/db_xref="dbSNP:1058398"
variation 4937
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="a"
/replace="g"
/db_xref="dbSNP:3026122"
variation 4941
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace=""
/replace="a"
/db_xref="dbSNP:76828367"
variation 4949
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="c"
/replace="g"
/db_xref="dbSNP:1806221"
variation 4965
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="c"
/replace="g"
/db_xref="dbSNP:1058400"
variation 4979
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="c"
/replace="t"
/db_xref="dbSNP:145662283"
variation 4982
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="a"
/replace="c"
/db_xref="dbSNP:148871718"
STS 5037..5246
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/standard_name="RH25190"
/db_xref="UniSTS:89870"
variation 5049
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="a"
/replace="g"
/db_xref="dbSNP:142602831"
variation 5050
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace=""
/replace="t"
/db_xref="dbSNP:145465747"
STS 5070..5175
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/standard_name="D17S1421E"
/db_xref="UniSTS:150463"
STS 5107..5226
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/standard_name="D15S629E"
/db_xref="UniSTS:149968"
STS 5147..5273
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/standard_name="G42908"
/db_xref="UniSTS:94817"
variation 5150
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="c"
/replace="t"
/db_xref="dbSNP:368498804"
variation 5154
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="c"
/replace="t"
/db_xref="dbSNP:7426"
STS 5155..5296
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/standard_name="WI-18700"
/db_xref="UniSTS:52698"
STS 5178..5277
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/standard_name="G59307"
/db_xref="UniSTS:136622"
variation 5190
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="a"
/replace="g"
/db_xref="dbSNP:376462884"
variation 5199
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace="c"
/replace="t"
/db_xref="dbSNP:2407"
variation 5264..5266
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
/replace=""
/replace="gaa"
/db_xref="dbSNP:368756917"
polyA_signal 5279..5284
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
polyA_site 5300
/gene="RABEP1"
/gene_synonym="RAB5EP; RABPT5"
ORIGIN
gcgcactgcttatttcccgctgtcaggatgaggaggcggaggtcggcggtcgggtccgtctctgcccgcggctgtggcggcgccggcggatccagccttagcggtttctctctgggcggcggcggcggcggctcggttgacgcctcctccgccagctgagcccgcgggagcccaggacgccgcttccccgcccatccccgctccccgaggccggccgcctggtcatggcgcagccgggcccggcttcccagcctgacgtttctcttcagcaacgggtagcagaattggaaaaaattaatgcagaatttttacgtgcacaacagcagcttgaacaagaatttaatcaaaagagagcaaaatttaaggagttatatttggctaaagaggaggatctgaagaggcaaaatgcagtattacaagctgcacaagatgatttgggacaccttcgaacccagctgtgggaagctcaagcagagatggagaatattaaggcgattgccacagtctctgagaacaccaagcaagaagctatagatgaagtgaaaagacagtggagagaagaagttgcttcacttcaggctgttatgaaagaaacagttcgtgactatgagcaccagttccaccttaggctggagcaggagcgaacacagtgggcacagtatagagaatccgcagagagggaaatagctgatttaagaagaaggctgtctgaaggtcaagaggaggaaaatttagaaaatgaaatgaaaaaggcccaagaggatgctgagaaacttcggtccgttgtgatgccaatggaaaaggaaattgcagctttgaaggataaactgacagaggctgaagacaaaattaaagagctggaggcctcaaaggttaaagaactgaatcattatctggaagctgagaaatcttgtaggactgatctagagatgtatgtagctgttttgaatactcagaaatctgttctacaggaagatgctgagaaactgcggaaagaattgcatgaagtttgccatctcttggagcaagagcgacaacaacacaaccagttaaaacatacgtggcagaaggccaatgaccagtttctggaatctcagcgtttactgatgagagacatgcagcgaatggagattgtgctaacttcagaacagctccgacaagttgaagaactgaagaagaaagatcaggaggatgatgaacaacaaagactcaataagagaaaggatcacaaaaaagcagatgttgaggaagaaataaaaataccagtagtgtgtgctttaactcaagaagaatcttcagcccagttatcaaatgaagaggagcatttagacagcacccgtggctcagttcattccttagatgcaggcttgctgttgccatctggagatcctttcagtaaatcggacaatgacatgtttaaagatggactcaggagagcacagtctacagacagcttgggaacctcgggctcattgcaatccaaagctttaggctataactacaaagcaaaatctgctggaaacctggacgagtcagattttggaccactggtaggagcagattcagtgtctgagaactttgatactgcatcccttgggtcactccagatgccaagtgggtttatgttaaccaaagatcaggaaagagcaatcaaggcgatgacaccagaacaagaagagacagcgtccctcctctccagcgttacccagggcatggagagtgcctatgtgtcccctagtggttatcgtttagttagtgaaacagaatggaatctcttgcagaaagaggtacataatgctggaaataaacttggtagacgttgtgatatgtgttccaattacgaaaaacagttacaaggaattcagattcaggaggctgaaacgagagaccaggtgaaaaaactacagctgatgctaaggcaagctaatgaccagttagagaagacaatgaaagataagcaggagctggaagacttcataaagcaaagcagcgaagattcgagtcaccagatctctgcactcgtcctaagagcccaggcctccgagatcttacttgaagagttacagcaggggctttcccaggcaaagagggatgttcaggaacagatggcggtgctgatgcagtcacgggaacaggtttcagaagagctggtgaggttacagaaagataatgacagtctccagggaaagcacagcctgcatgtgtcattacagcaagcagaagacttcatcctcccagacactacagaggcactgcgggagttggtattaaaataccgtgaggacatcattaatgtgcggacagcagcagaccacgtagaagaaaagctgaaggctgagatacttttcctaaaagagcagatccaagcagaacagtgtttaaaagaaaatcttgaagaaactctgcaactagaaatagaaaactgcaaggaggaaatagcttctatttctagcctaaaagctgaattagaaagaataaaagtggaaaaaggacaggctaccgttgaacaactaatgtttgaagagaagaataaagctcagagattacagacagaattagatgtcagtgagcaagtccagagggattttgtaaagctttcacagacccttcaggtgcagttagagcggatccggcaagctgactccttggagagaatccgggcaattctgaatgatactaaactgacagacattaaccagcttcctgagacatgacaccctcatggcaggattctagcctgcactttgggtttttaactcatctttagagcaacagtaattattatttaactcttaactgaagaaagagaagtcacaacaaaaggaagactggagaaatgcttacttctagagggagaagactgtgcggcacaggaaacagcaaacagtggggtgatctgcagcccagagaccttcaaatgcgaacactataaactccaggcttgattccaacaggcgtgggatcagatttggtgatggaaaaagcgctgtttccttgcctgctttctccaagacagattttcggaacacatttccctaccctaaagcgacatcccagtagtgtttggaattttctgttcatagatattggaagagagaatttgctttatctgttgtctagagctcatcagtaacagtattcagttagcagacagaagtgtagtatgctgtatgaatattttatattaaaatatgaaggtttgagagcaggccattggctactgactgtattttgttttccttttaccattttatcttatcttgctttggaggaccttaaatgctactgaaacttacctgagaaccataggactgtggcaaacaaaaccaattcatgaagtgaattaatgatgaggatctgaaaacttggctggggctatatatactggaagttgaaggttaaaggaaaagcacaagaaactttggaagcactttttctgcatacttagatgatcttcatgggcccacagggtaccaggataaagccgaactggtaccatctactcttttgaagtgttttagtctagttattggatcagtgaaaaacattagtatacgtttttaaataggctaatttttcaacttggatcattaggcttacgtactacttgtttcaaatgtgtcaaatacaaaaatggtaactaggttgacagatactttgtatttttcttttgaattcagacctggaatgtaagtaagtgacaatgcttatggaaagccagttagttagaattggaaatctgtcttgtcattttacaagcattagattcctttcctgtgtgaagaaagcctcagtgaaacaggtctttgccataactttatgaagtgctacagaaagcacaaagaattgattcatgttcatcaatacctgctgagagtactgtcccaggaatatccagtggatggattcatcatccaggaggttcaaaagtaagatggttttcaaatcatttttgagactggttgcataacagcagggtacctgaaagagccttctgggagttagtgaactaggtagattgttttgttcacataacgccaccatcaacttaaagtgaattgtctttgttataaatgaggtcactatggacttaccctaaagatcttctgtacttctctcttccataggacaaatgataagtactacatacctcatctcttgggttattattgtagtcttgcattcatggttatgaatttaaaaataaataccaattatggaaatagtactaaaggcttgccgcacatgaaacattattttaattggtttaaagtccctttataaagagtgctacatggtttagataaaggaaacatataactattgagttacaggggattttattaattataaaatgcaatcaatttaaattacgtaggtttaagactagtcccttggataagccccaagcgaatttgtcttcagattattaaaattagtgctgtaaatcagggtgggcaattcacagcctttctgaactgactgaactagagcttgcagtgaagtgttctgctgagactgagcaccttacagatatttttctccagaagatggtgctgggtaataaaatcatcacaattagggaatggttagtggtctctactgtggcaaatgccaactgttggaattcactttattgtagaaaaacccaaactgagactcttaagttttgtttagcaatgtgtttctggtatgaaacaaactactgtgtcactgtccaggtaggaaacaattctttcaactgggttttcagcataaatgggaactgatgtagaaggcaggatttagcccttctaggcaaaagaaaagctcagttgggtttcacgagtgttcctgtgcttatattcagtctgtgcctacatgttctcatgcatgtctaacctgatttacctcttacctgtaacctaccttatcatgtggcttttaattgacagtcactcagccatttctaagcagatatagtagtacctttcagaactcacattggcaagtgtaaaaagatgacttaaggtgaagtgaggacaaaatcacattctgcatactaacctatttttttctccctttaaggtgctaaacttgcacctcatgtccactcagtaacaagtattgggacgtagagcacagcctcactcagctctgaaaggtaatacagcttgtgaggaagtgagccagcagtggcctttgcaattgtggatcttgagctctgctctcagcagatttcaggtgtaaccatttgttaactgtactgaaggtgtgtcctcaagaagaaagtgttcaaattaaaaaagctgctgccaagtacaaaaaaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:9135 -> Molecular function: GO:0005096 [GTPase activator activity] evidence: IEA
GeneID:9135 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
GeneID:9135 -> Molecular function: GO:0008083 [growth factor activity] evidence: IEA
GeneID:9135 -> Molecular function: GO:0042803 [protein homodimerization activity] evidence: IPI
GeneID:9135 -> Biological process: GO:0006897 [endocytosis] evidence: IEA
GeneID:9135 -> Biological process: GO:0006915 [apoptotic process] evidence: IEA
GeneID:9135 -> Biological process: GO:0006944 [cellular membrane fusion] evidence: TAS
GeneID:9135 -> Biological process: GO:0015031 [protein transport] evidence: IEA
GeneID:9135 -> Cellular component: GO:0005768 [endosome] evidence: IDA
GeneID:9135 -> Cellular component: GO:0005769 [early endosome] evidence: IEA
GeneID:9135 -> Cellular component: GO:0030139 [endocytic vesicle] evidence: IDA
GeneID:9135 -> Cellular component: GO:0055037 [recycling endosome] evidence: IEA
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@meso_cacase at
DBCLS
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