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2024-04-19 11:34:38, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001040452 2485 bp mRNA linear PRI 17-APR-2013
DEFINITION Homo sapiens RUN and FYVE domain containing 1 (RUFY1), transcript
variant 3, mRNA.
ACCESSION NM_001040452
VERSION NM_001040452.2 GI:365733604
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 2485)
AUTHORS Boraska,V., Davis,O.S., Cherkas,L.F., Helder,S.G., Harris,J.,
Krug,I., Liao,T.P., Treasure,J., Ntalla,I., Karhunen,L.,
Keski-Rahkonen,A., Christakopoulou,D., Raevuori,A., Shin,S.Y.,
Dedoussis,G.V., Kaprio,J., Soranzo,N., Spector,T.D., Collier,D.A.
and Zeggini,E.
TITLE Genome-wide association analysis of eating disorder-related
symptoms, behaviors, and personality traits
JOURNAL Am. J. Med. Genet. B Neuropsychiatr. Genet. 159B (7), 803-811
(2012)
PUBMED 22911880
REFERENCE 2 (bases 1 to 2485)
AUTHORS Yamamoto,H., Koga,H., Katoh,Y., Takahashi,S., Nakayama,K. and
Shin,H.W.
TITLE Functional cross-talk between Rab14 and Rab4 through a dual
effector, RUFY1/Rabip4
JOURNAL Mol. Biol. Cell 21 (15), 2746-2755 (2010)
PUBMED 20534812
REMARK GeneRIF: These findings suggest that Rab14 and Rab4 act
sequentially, together with RUFY1.
REFERENCE 3 (bases 1 to 2485)
AUTHORS Hayakawa,A., Hayes,S., Leonard,D., Lambright,D. and Corvera,S.
TITLE Evolutionarily conserved structural and functional roles of the
FYVE domain
JOURNAL Biochem. Soc. Symp. 74, 95-105 (2007)
PUBMED 17233583
REMARK Review article
REFERENCE 4 (bases 1 to 2485)
AUTHORS Fouraux,M.A., Deneka,M., Ivan,V., van der Heijden,A.,
Raymackers,J., van Suylekom,D., van Venrooij,W.J., van der
Sluijs,P. and Pruijn,G.J.
TITLE Rabip4' is an effector of rab5 and rab4 and regulates transport
through early endosomes
JOURNAL Mol. Biol. Cell 15 (2), 611-624 (2004)
PUBMED 14617813
REFERENCE 5 (bases 1 to 2485)
AUTHORS Yang,J., Kim,O., Wu,J. and Qiu,Y.
TITLE Interaction between tyrosine kinase Etk and a RUN domain- and FYVE
domain-containing protein RUFY1. A possible role of ETK in
regulation of vesicle trafficking
JOURNAL J. Biol. Chem. 277 (33), 30219-30226 (2002)
PUBMED 11877430
REMARK GeneRIF: interaction with tyrosine kinase Etk
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from DA648204.1, BC032571.1,
AK025904.1 and BQ014980.1.
On Dec 23, 2011 this sequence version replaced gi:94721329.
Summary: This gene encodes a protein that contains a RUN domain and
a FYVE-type zinc finger domain. The encoded protein binds to
phosphatidylinositol-3-phosphate (PI3P) and plays a role in early
endosomal trafficking, tethering and fusion through interactions
with small GTPases including Rab4, Rab5 and Rab14. Alternatively
spliced transcript variants encoding multiple isoforms have been
observed for this gene. [provided by RefSeq, Dec 2011].
Transcript Variant: This variant (3) differs in the 5' UTR, lacks a
portion of the 5' coding region and initiates translation at a
downstream, in-frame start codon, compared to variant 1. Variants 2
and 3 encode the same isoform (b) which has a shorter N-terminus
compared to isoform a.
##Evidence-Data-START##
Transcript exon combination :: BC032571.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025084, ERS025086 [ECO:0000348]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-81 DA648204.1 2-82
82-1375 BC032571.1 1-1294
1376-1376 AK025904.1 614-614
1377-2454 BC032571.1 1296-2373
2455-2485 BQ014980.1 1-31 c
FEATURES Location/Qualifiers
source 1..2485
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="5"
/map="5q35.3"
gene 1..2485
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/note="RUN and FYVE domain containing 1"
/db_xref="GeneID:80230"
/db_xref="HGNC:19760"
/db_xref="MIM:610327"
exon 1..144
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/inference="alignment:Splign:1.39.8"
misc_feature 63..65
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/note="upstream in-frame stop codon"
variation 84
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="a"
/replace="g"
/db_xref="dbSNP:181813693"
exon 145..318
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/inference="alignment:Splign:1.39.8"
variation 148
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:35796542"
variation 153
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="c"
/replace="t"
/db_xref="dbSNP:200485640"
variation 154
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="g"
/replace="t"
/db_xref="dbSNP:146021243"
CDS 159..1961
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/note="isoform b is encoded by transcript variant 3;
la-binding protein 1; FYVE-finger protein EIP1;
rab4-interacting protein; zinc finger FYVE
domain-containing protein 12"
/codon_start=1
/product="RUN and FYVE domain-containing protein 1 isoform
b"
/protein_id="NP_001035542.1"
/db_xref="GI:94721330"
/db_xref="CCDS:CCDS34312.1"
/db_xref="GeneID:80230"
/db_xref="HGNC:19760"
/db_xref="MIM:610327"
/translation="
MMEERANLMHMMKLSIKVLLQSALSLGRSLDADHAPLQQFFVVMEHCLKHGLKVKKSFIGQNKSFFGPLELVEKLCPEASDIATSVRNLPELKTAVGRGRAWLYLALMQKKLADYLKVLIDNKHLLSEFYEPEALMMEEEGMVIVGLLVGLNVLDANLCLKGEDLDSQVGVIDFSLYLKDVQDLDGGKEHERITDVLDQKNYVEELNRHLSCTVGDLQTKIDGLEKTNSKLQEELSAATDRICSLQEEQQQLREQNELIRERSEKSVEITKQDTKVELETYKQTRQGLDEMYSDVWKQLKEEKKVRLELEKELELQIGMKTEMEIAMKLLEKDTHEKQDTLVALRQQLEEVKAINLQMFHKAQNAESSLQQKNEAITSFEGKTNQVMSSMKQMEERLQHSERARQGAEERSHKLQQELGGRIGALQLQLSQLHEQCSSLEKELKSEKEQRQALQRELQHEKDTSSLLRMELQQVEGLKKELRELQDEKAELQKICEEQEQALQEMGLHLSQSKLKMEDIKEVNQALKGHAWLKDDEATHCRQCEKEFSISRRKHHCRNCGHIFCNTCSSNELALPSYPKPVRVCDSCHTLLLQRCSSTAS
"
misc_feature 273..>569
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/note="RUN domain; Region: RUN; pfam02759"
/db_xref="CDD:190411"
misc_feature 1686..1688
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
misc_feature 1749..1937
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/note="FYVE zinc finger; Region: FYVE; pfam01363"
/db_xref="CDD:201748"
misc_feature 1764..1925
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/note="FYVE domain; Zinc-binding domain; targets proteins
to membrane lipids via interaction with
phosphatidylinositol-3-phosphate, PI3P; present in Fab1,
YOTB, Vac1, and EEA1; Region: FYVE; cd00065"
/db_xref="CDD:28947"
misc_feature order(1776..1778,1785..1787,1824..1826,1833..1835,
1848..1850,1857..1859,1908..1910,1917..1919)
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/note="Zn binding sites [ion binding]; other site"
/db_xref="CDD:28947"
misc_feature order(1812..1829,1842..1844,1902..1904)
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/note="phosphatidylinositol 3-phosphate binding site
[chemical binding]; other site"
/db_xref="CDD:28947"
variation 226
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="a"
/replace="c"
/db_xref="dbSNP:62395251"
variation 228
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="a"
/replace="c"
/db_xref="dbSNP:145492098"
variation 264
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="c"
/replace="t"
/db_xref="dbSNP:113157637"
exon 319..436
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/inference="alignment:Splign:1.39.8"
variation 338
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="a"
/replace="c"
/db_xref="dbSNP:141246652"
variation 363
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="c"
/replace="t"
/db_xref="dbSNP:201989633"
variation 374
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="a"
/replace="g"
/db_xref="dbSNP:377209673"
variation 403
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="c"
/replace="t"
/db_xref="dbSNP:370342000"
variation 407
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="a"
/replace="g"
/db_xref="dbSNP:145001113"
exon 437..538
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/inference="alignment:Splign:1.39.8"
variation 456
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="c"
/replace="t"
/db_xref="dbSNP:367832710"
variation 461
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="g"
/replace="t"
/db_xref="dbSNP:146463794"
variation 492
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="c"
/replace="t"
/db_xref="dbSNP:370320088"
exon 539..662
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/inference="alignment:Splign:1.39.8"
variation 539
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="c"
/replace="g"
/db_xref="dbSNP:141995707"
variation 583
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="c"
/replace="t"
/db_xref="dbSNP:148285472"
variation 590
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="g"
/replace="t"
/db_xref="dbSNP:147187303"
variation 613
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="a"
/replace="g"
/db_xref="dbSNP:191142171"
variation 620
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="c"
/replace="t"
/db_xref="dbSNP:140249165"
variation 630
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="c"
/replace="t"
/db_xref="dbSNP:186494640"
variation 632
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="c"
/replace="t"
/db_xref="dbSNP:150352195"
variation 653
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="a"
/replace="g"
/db_xref="dbSNP:199642534"
exon 663..724
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/inference="alignment:Splign:1.39.8"
exon 725..790
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/inference="alignment:Splign:1.39.8"
variation 728
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="g"
/replace="t"
/db_xref="dbSNP:6879322"
exon 791..860
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/inference="alignment:Splign:1.39.8"
variation 812
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="a"
/replace="g"
/db_xref="dbSNP:376303394"
variation 818
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="a"
/replace="g"
/db_xref="dbSNP:370693366"
exon 861..962
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/inference="alignment:Splign:1.39.8"
variation 873
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="a"
/replace="g"
/db_xref="dbSNP:142874966"
variation 886
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="g"
/replace="t"
/db_xref="dbSNP:74936220"
variation 891
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="c"
/replace="t"
/db_xref="dbSNP:200257884"
variation 902
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="a"
/replace="g"
/db_xref="dbSNP:374363197"
variation 935
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="c"
/replace="t"
/db_xref="dbSNP:56252946"
variation 950
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="a"
/replace="c"
/db_xref="dbSNP:141988339"
exon 963..1079
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/inference="alignment:Splign:1.39.8"
variation 984
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="a"
/replace="g"
/db_xref="dbSNP:75258376"
variation 1015
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="a"
/replace="g"
/db_xref="dbSNP:148588709"
variation 1054
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="c"
/replace="t"
/db_xref="dbSNP:142906534"
variation 1078
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="c"
/replace="t"
/db_xref="dbSNP:111890912"
exon 1080..1247
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/inference="alignment:Splign:1.39.8"
variation 1083
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="c"
/replace="t"
/db_xref="dbSNP:375970287"
variation 1109
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="g"
/replace="t"
/db_xref="dbSNP:150673433"
variation 1159
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="c"
/replace="t"
/db_xref="dbSNP:368906088"
variation 1163
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="c"
/replace="t"
/db_xref="dbSNP:73809484"
variation 1170
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="c"
/replace="g"
/db_xref="dbSNP:372933390"
variation 1189
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="c"
/replace="t"
/db_xref="dbSNP:111312725"
variation 1192
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="a"
/replace="g"
/db_xref="dbSNP:200339000"
variation 1223
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="c"
/replace="t"
/db_xref="dbSNP:4701135"
exon 1248..1345
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/inference="alignment:Splign:1.39.8"
variation 1250
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="c"
/replace="t"
/db_xref="dbSNP:75505498"
variation 1259
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="c"
/replace="t"
/db_xref="dbSNP:373665202"
variation 1272
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="a"
/replace="c"
/db_xref="dbSNP:202054173"
variation 1303
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="a"
/replace="g"
/db_xref="dbSNP:149667846"
variation 1311
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="c"
/replace="g"
/db_xref="dbSNP:376644224"
exon 1346..1465
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/inference="alignment:Splign:1.39.8"
variation 1358
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="a"
/replace="g"
/db_xref="dbSNP:367823926"
variation 1363
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="a"
/replace="g"
/db_xref="dbSNP:112734071"
variation 1377
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="a"
/replace="g"
/db_xref="dbSNP:199831256"
variation 1398
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="a"
/replace="c"
/db_xref="dbSNP:148906843"
variation 1415
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="c"
/replace="t"
/db_xref="dbSNP:201050880"
variation 1422
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="a"
/replace="c"
/db_xref="dbSNP:371925695"
variation 1425
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="a"
/replace="g"
/db_xref="dbSNP:113842455"
variation 1442
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="a"
/replace="g"
/db_xref="dbSNP:200915326"
variation 1457
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="c"
/replace="t"
/db_xref="dbSNP:200817886"
variation 1458
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="a"
/replace="g"
/db_xref="dbSNP:368440829"
exon 1466..1595
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/inference="alignment:Splign:1.39.8"
variation 1479
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="a"
/replace="g"
/db_xref="dbSNP:201776757"
variation 1502
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="a"
/replace="g"
/db_xref="dbSNP:201494659"
variation 1521
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="c"
/replace="t"
/db_xref="dbSNP:201227020"
variation 1523
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="c"
/replace="t"
/db_xref="dbSNP:199910786"
variation 1552
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="c"
/replace="g"
/db_xref="dbSNP:202150230"
variation 1562
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="a"
/replace="g"
/db_xref="dbSNP:72824522"
variation 1587
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="c"
/replace="t"
/db_xref="dbSNP:73336111"
exon 1596..1690
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/inference="alignment:Splign:1.39.8"
variation 1602
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="c"
/replace="t"
/db_xref="dbSNP:368354140"
variation 1617
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="a"
/replace="g"
/db_xref="dbSNP:372903598"
variation 1622
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="a"
/replace="g"
/db_xref="dbSNP:141042003"
variation 1643
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="c"
/replace="t"
/db_xref="dbSNP:374496321"
variation 1644
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="a"
/replace="g"
/db_xref="dbSNP:367784503"
variation 1646
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="a"
/replace="g"
/db_xref="dbSNP:371382038"
variation 1664
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="c"
/replace="t"
/db_xref="dbSNP:188712175"
exon 1691..1739
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/inference="alignment:Splign:1.39.8"
variation 1712
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="c"
/replace="t"
/db_xref="dbSNP:371703522"
variation 1734
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="c"
/replace="t"
/db_xref="dbSNP:201990443"
exon 1740..1817
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/inference="alignment:Splign:1.39.8"
variation 1761
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="c"
/replace="g"
/db_xref="dbSNP:373274069"
variation 1764
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="a"
/replace="g"
/db_xref="dbSNP:377322004"
variation 1769
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="a"
/replace="g"
/db_xref="dbSNP:200182514"
variation 1771
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="c"
/replace="t"
/db_xref="dbSNP:145048480"
variation 1778
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="c"
/replace="t"
/db_xref="dbSNP:138909927"
variation 1808
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="c"
/replace="t"
/db_xref="dbSNP:200755968"
exon 1818..2468
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/inference="alignment:Splign:1.39.8"
variation 1874
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="a"
/replace="g"
/db_xref="dbSNP:17355294"
variation 1887
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="a"
/replace="t"
/db_xref="dbSNP:369641186"
variation 1889
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="c"
/replace="t"
/db_xref="dbSNP:373507858"
variation 1897
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="c"
/replace="t"
/db_xref="dbSNP:376438789"
variation 1898
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="c"
/replace="g"
/db_xref="dbSNP:11541392"
variation 1902
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="a"
/replace="c"
/db_xref="dbSNP:201071293"
variation 1903
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="a"
/replace="g"
/db_xref="dbSNP:373401342"
variation 1925
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="c"
/replace="g"
/db_xref="dbSNP:375786356"
variation 1947
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="g"
/replace="t"
/db_xref="dbSNP:138313632"
variation 1949
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="c"
/replace="t"
/db_xref="dbSNP:201845769"
variation 1952
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="a"
/replace="g"
/db_xref="dbSNP:370086474"
variation 1964
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="a"
/replace="g"
/db_xref="dbSNP:148955712"
variation 1968
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="a"
/replace="g"
/db_xref="dbSNP:201055157"
variation 1972
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="c"
/replace="t"
/db_xref="dbSNP:370835233"
variation 1976
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="c"
/replace="g"
/db_xref="dbSNP:375012431"
variation 1978
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="a"
/replace="g"
/db_xref="dbSNP:368273358"
variation 1990
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="a"
/replace="g"
/db_xref="dbSNP:372873984"
variation 2003
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="c"
/replace="t"
/db_xref="dbSNP:62397300"
variation 2005
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="c"
/replace="t"
/db_xref="dbSNP:376031039"
variation 2030..2031
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace=""
/replace="a"
/db_xref="dbSNP:34379285"
variation 2049
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="a"
/replace="t"
/db_xref="dbSNP:8087"
STS 2082..2201
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/standard_name="RH99066"
/db_xref="UniSTS:84617"
variation 2109
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="a"
/replace="g"
/db_xref="dbSNP:183307287"
variation 2135
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="a"
/replace="g"
/db_xref="dbSNP:10072198"
variation 2155
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="c"
/replace="g"
/db_xref="dbSNP:11541393"
variation 2259
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="a"
/replace="c"
/db_xref="dbSNP:371385294"
variation 2308
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="c"
/replace="t"
/db_xref="dbSNP:143694823"
variation 2322
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="c"
/replace="t"
/db_xref="dbSNP:138228772"
polyA_signal 2434..2439
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
variation 2444
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="c"
/replace="t"
/db_xref="dbSNP:113545203"
polyA_site 2454
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
variation 2464
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="a"
/replace="g"
/db_xref="dbSNP:73810815"
ORIGIN
aaaaatggaaccggggttgcgggagaagccaaacgcggcgagtcttgctaaagccgtcgccgtagcaacgcgcggagccgtctgggagaggcctctggagcaggaggcccagtggctcttctgacccaaggccccgccgtccagcttctaagtgccagatgatggaggagcgtgccaacctgatgcacatgatgaaactcagcatcaaggtgttgctccagtcggctctgagcctgggccgcagcctggatgcggaccatgcccccttgcagcagttctttgtagtgatggagcactgcctcaaacatgggctgaaagttaagaagagttttattggccaaaataaatcattctttggtcctttggagctggtggagaaactttgtccagaagcatcagatatagcgactagtgtcagaaatcttccagaattaaagacagctgtgggaagaggccgagcgtggctttatcttgcactcatgcaaaagaaactggcagattatctgaaagtgcttatagacaataaacatctcttaagcgagttctatgagcctgaggctttaatgatggaggaagaagggatggtgattgttggtctgctggtgggactcaatgttctcgatgccaatctctgcttgaaaggagaagacttggattctcaggttggagtaatagatttttccctctaccttaaggatgtgcaggatcttgatggtggcaaggagcatgaaagaattactgatgtccttgatcaaaaaaattatgtggaagaacttaaccggcacttgagctgcacagttggggatcttcaaaccaagatagatggcttggaaaagactaactcaaagcttcaagaagagctttcagctgcaacagaccgaatttgctcacttcaagaagaacagcagcagttaagagaacaaaatgaattaattcgagaaagaagtgaaaagagtgtagagataacaaaacaggataccaaagttgagctggagacttacaagcaaactcggcaaggtctggatgaaatgtacagtgatgtgtggaagcagctaaaagaggagaagaaagtccggttggaactggaaaaagaactggagttacaaattggaatgaaaaccgaaatggaaattgcaatgaagttactggaaaaggacacccacgagaagcaggacacactagttgccctccgccagcagctggaagaagtcaaagcgattaatttacagatgtttcacaaagctcagaatgcagagagcagtttgcagcagaagaatgaagccatcacatcctttgaaggaaaaaccaaccaagttatgtccagcatgaaacaaatggaagaaaggttgcagcactcggagcgggcgaggcagggggctgaggagcggagccacaagctgcagcaggagctgggcgggaggatcggcgccctgcagctgcagctctcccagctgcacgagcaatgctcaagcctggagaaagaattgaaatcagaaaaagagcaaagacaggctcttcagcgcgaattacagcacgagaaagacacttcctctctactcaggatggagctgcaacaagtggaaggactgaaaaaggagttgcgggagcttcaggacgagaaggcagagctgcagaagatctgcgaggagcaggaacaagccctccaggaaatgggcctgcacctcagccagtccaagctgaagatggaagatataaaagaagtgaaccaggcactgaagggccacgcctggctgaaagatgacgaagcgacacactgtaggcagtgtgagaaggagttctccatttcccggagaaagcaccactgccggaactgtggccacatcttctgcaacacctgctccagcaacgagctggccctgccctcctaccccaagccggtgcgagtgtgcgacagctgccacaccctgctcctgcagcgctgctcctccacggcctcctgaacgtccgtcctcaggagcacagcctcacggacagtgccaaaccctgtgggtctccaggggcttgggaaatgtgttctttcccaagagtatcaaaggaaagaatcaaatttcttgcccggtcactggcactccagaagacagcgtgccggaaccggcagctctcacctttctgtgacttgttcggaattaactcctctggatggaaacttccatcttacttggttacatcacggctctggttcagatacaacttcatgattttgctactatcatttttcacttttcaaagaatttaacctattttacagcagttcagttctgctagtgagtagttttcctctcctaccttccttctaaaaacctgattcatgcacagcgtttgacacacatggagtctgccagtgtgccttctctgcttcagacaagagatctgccatttcatgcccttgtgactacctatcattggccctgcaataaaatcatttatttttcactctggtgcgtgcaaaaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:80230 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
GeneID:80230 -> Molecular function: GO:0008270 [zinc ion binding] evidence: IEA
GeneID:80230 -> Molecular function: GO:0008289 [lipid binding] evidence: IEA
GeneID:80230 -> Molecular function: GO:0008565 [protein transporter activity] evidence: IEA
GeneID:80230 -> Biological process: GO:0006897 [endocytosis] evidence: IEA
GeneID:80230 -> Biological process: GO:0030100 [regulation of endocytosis] evidence: IEA
GeneID:80230 -> Cellular component: GO:0031901 [early endosome membrane] evidence: IEA
by
@meso_cacase at
DBCLS
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