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2024-04-20 07:16:52, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001040451 2674 bp mRNA linear PRI 20-APR-2013
DEFINITION Homo sapiens RUN and FYVE domain containing 1 (RUFY1), transcript
variant 2, mRNA.
ACCESSION NM_001040451
VERSION NM_001040451.2 GI:365733602
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 2674)
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 2674)
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 2674)
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 2674)
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 2674)
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 AK291926.1, AK075021.1,
BC032571.1 and BQ014980.1.
On Dec 23, 2011 this sequence version replaced gi:94721331.
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 (2) 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 :: AK291926.1, AK075021.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025081, ERS025082 [ECO:0000348]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-285 AK291926.1 1-285
286-286 AK075021.1 185-185
287-1084 AK291926.1 287-1084
1085-1412 BC032571.1 815-1142
1413-1750 AK291926.1 1413-1750
1751-2388 AK075021.1 1651-2288
2389-2674 BQ014980.1 1-286 c
FEATURES Location/Qualifiers
source 1..2674
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="5"
/map="5q35.3"
gene 1..2674
/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..507
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/inference="alignment:Splign:1.39.8"
variation 84
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="a"
/replace="g"
/db_xref="dbSNP:181813693"
variation 187
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="c"
/replace="t"
/db_xref="dbSNP:142665481"
variation 286
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="c"
/replace="g"
/db_xref="dbSNP:7704349"
variation 293
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="c"
/replace="t"
/db_xref="dbSNP:369936995"
variation 295
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="c"
/replace="t"
/db_xref="dbSNP:12658664"
variation 301
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="a"
/replace="g"
/db_xref="dbSNP:376310238"
misc_feature 303..305
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/note="upstream in-frame stop codon"
variation 306
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="c"
/replace="g"
/db_xref="dbSNP:112924151"
variation 337
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:35796542"
variation 342
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="c"
/replace="t"
/db_xref="dbSNP:200485640"
variation 343
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="g"
/replace="t"
/db_xref="dbSNP:146021243"
CDS 348..2150
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/note="isoform b is encoded by transcript variant 2;
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_001035541.1"
/db_xref="GI:94721332"
/db_xref="CCDS:CCDS34312.1"
/db_xref="GeneID:80230"
/db_xref="HGNC:19760"
/db_xref="MIM:610327"
/translation="
MMEERANLMHMMKLSIKVLLQSALSLGRSLDADHAPLQQFFVVMEHCLKHGLKVKKSFIGQNKSFFGPLELVEKLCPEASDIATSVRNLPELKTAVGRGRAWLYLALMQKKLADYLKVLIDNKHLLSEFYEPEALMMEEEGMVIVGLLVGLNVLDANLCLKGEDLDSQVGVIDFSLYLKDVQDLDGGKEHERITDVLDQKNYVEELNRHLSCTVGDLQTKIDGLEKTNSKLQEELSAATDRICSLQEEQQQLREQNELIRERSEKSVEITKQDTKVELETYKQTRQGLDEMYSDVWKQLKEEKKVRLELEKELELQIGMKTEMEIAMKLLEKDTHEKQDTLVALRQQLEEVKAINLQMFHKAQNAESSLQQKNEAITSFEGKTNQVMSSMKQMEERLQHSERARQGAEERSHKLQQELGGRIGALQLQLSQLHEQCSSLEKELKSEKEQRQALQRELQHEKDTSSLLRMELQQVEGLKKELRELQDEKAELQKICEEQEQALQEMGLHLSQSKLKMEDIKEVNQALKGHAWLKDDEATHCRQCEKEFSISRRKHHCRNCGHIFCNTCSSNELALPSYPKPVRVCDSCHTLLLQRCSSTAS
"
misc_feature 462..>758
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/note="RUN domain; Region: RUN; pfam02759"
/db_xref="CDD:190411"
misc_feature 1875..1877
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
misc_feature 1938..2126
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/note="FYVE zinc finger; Region: FYVE; pfam01363"
/db_xref="CDD:201748"
misc_feature 1953..2114
/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(1965..1967,1974..1976,2013..2015,2022..2024,
2037..2039,2046..2048,2097..2099,2106..2108)
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/note="Zn binding sites [ion binding]; other site"
/db_xref="CDD:28947"
misc_feature order(2001..2018,2031..2033,2091..2093)
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/note="phosphatidylinositol 3-phosphate binding site
[chemical binding]; other site"
/db_xref="CDD:28947"
variation 415
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="a"
/replace="c"
/db_xref="dbSNP:62395251"
variation 417
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="a"
/replace="c"
/db_xref="dbSNP:145492098"
variation 453
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="c"
/replace="t"
/db_xref="dbSNP:113157637"
exon 508..625
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/inference="alignment:Splign:1.39.8"
variation 527
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="a"
/replace="c"
/db_xref="dbSNP:141246652"
variation 552
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="c"
/replace="t"
/db_xref="dbSNP:201989633"
variation 563
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="a"
/replace="g"
/db_xref="dbSNP:377209673"
variation 592
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="c"
/replace="t"
/db_xref="dbSNP:370342000"
variation 596
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="a"
/replace="g"
/db_xref="dbSNP:145001113"
exon 626..727
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/inference="alignment:Splign:1.39.8"
variation 645
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="c"
/replace="t"
/db_xref="dbSNP:367832710"
variation 650
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="g"
/replace="t"
/db_xref="dbSNP:146463794"
variation 681
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="c"
/replace="t"
/db_xref="dbSNP:370320088"
exon 728..851
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/inference="alignment:Splign:1.39.8"
variation 728
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="c"
/replace="g"
/db_xref="dbSNP:141995707"
variation 772
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="c"
/replace="t"
/db_xref="dbSNP:148285472"
variation 779
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="g"
/replace="t"
/db_xref="dbSNP:147187303"
variation 802
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="a"
/replace="g"
/db_xref="dbSNP:191142171"
variation 809
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="c"
/replace="t"
/db_xref="dbSNP:140249165"
variation 819
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="c"
/replace="t"
/db_xref="dbSNP:186494640"
variation 821
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="c"
/replace="t"
/db_xref="dbSNP:150352195"
variation 842
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="a"
/replace="g"
/db_xref="dbSNP:199642534"
exon 852..913
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/inference="alignment:Splign:1.39.8"
exon 914..979
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/inference="alignment:Splign:1.39.8"
variation 917
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="g"
/replace="t"
/db_xref="dbSNP:6879322"
exon 980..1049
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/inference="alignment:Splign:1.39.8"
variation 1001
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="a"
/replace="g"
/db_xref="dbSNP:376303394"
variation 1007
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="a"
/replace="g"
/db_xref="dbSNP:370693366"
exon 1050..1151
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/inference="alignment:Splign:1.39.8"
variation 1062
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="a"
/replace="g"
/db_xref="dbSNP:142874966"
variation 1075
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="g"
/replace="t"
/db_xref="dbSNP:74936220"
variation 1080
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="c"
/replace="t"
/db_xref="dbSNP:200257884"
variation 1091
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="a"
/replace="g"
/db_xref="dbSNP:374363197"
variation 1124
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="c"
/replace="t"
/db_xref="dbSNP:56252946"
variation 1139
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="a"
/replace="c"
/db_xref="dbSNP:141988339"
exon 1152..1268
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/inference="alignment:Splign:1.39.8"
variation 1173
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="a"
/replace="g"
/db_xref="dbSNP:75258376"
variation 1204
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="a"
/replace="g"
/db_xref="dbSNP:148588709"
variation 1243
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="c"
/replace="t"
/db_xref="dbSNP:142906534"
variation 1267
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="c"
/replace="t"
/db_xref="dbSNP:111890912"
exon 1269..1436
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/inference="alignment:Splign:1.39.8"
variation 1272
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="c"
/replace="t"
/db_xref="dbSNP:375970287"
variation 1298
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="g"
/replace="t"
/db_xref="dbSNP:150673433"
variation 1348
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="c"
/replace="t"
/db_xref="dbSNP:368906088"
variation 1352
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="c"
/replace="t"
/db_xref="dbSNP:73809484"
variation 1359
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="c"
/replace="g"
/db_xref="dbSNP:372933390"
variation 1378
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="c"
/replace="t"
/db_xref="dbSNP:111312725"
variation 1381
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="a"
/replace="g"
/db_xref="dbSNP:200339000"
variation 1412
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="c"
/replace="t"
/db_xref="dbSNP:4701135"
exon 1437..1534
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/inference="alignment:Splign:1.39.8"
variation 1439
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="c"
/replace="t"
/db_xref="dbSNP:75505498"
variation 1448
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="c"
/replace="t"
/db_xref="dbSNP:373665202"
variation 1461
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="a"
/replace="c"
/db_xref="dbSNP:202054173"
variation 1492
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="a"
/replace="g"
/db_xref="dbSNP:149667846"
variation 1500
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="c"
/replace="g"
/db_xref="dbSNP:376644224"
exon 1535..1654
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/inference="alignment:Splign:1.39.8"
variation 1547
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="a"
/replace="g"
/db_xref="dbSNP:367823926"
variation 1552
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="a"
/replace="g"
/db_xref="dbSNP:112734071"
variation 1566
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="a"
/replace="g"
/db_xref="dbSNP:199831256"
variation 1587
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="a"
/replace="c"
/db_xref="dbSNP:148906843"
variation 1604
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="c"
/replace="t"
/db_xref="dbSNP:201050880"
variation 1611
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="a"
/replace="c"
/db_xref="dbSNP:371925695"
variation 1614
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="a"
/replace="g"
/db_xref="dbSNP:113842455"
variation 1631
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="a"
/replace="g"
/db_xref="dbSNP:200915326"
variation 1646
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="c"
/replace="t"
/db_xref="dbSNP:200817886"
variation 1647
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="a"
/replace="g"
/db_xref="dbSNP:368440829"
exon 1655..1784
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/inference="alignment:Splign:1.39.8"
variation 1668
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="a"
/replace="g"
/db_xref="dbSNP:201776757"
variation 1691
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="a"
/replace="g"
/db_xref="dbSNP:201494659"
variation 1710
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="c"
/replace="t"
/db_xref="dbSNP:201227020"
variation 1712
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="c"
/replace="t"
/db_xref="dbSNP:199910786"
variation 1741
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="c"
/replace="g"
/db_xref="dbSNP:202150230"
variation 1751
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="a"
/replace="g"
/db_xref="dbSNP:72824522"
variation 1776
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="c"
/replace="t"
/db_xref="dbSNP:73336111"
exon 1785..1879
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/inference="alignment:Splign:1.39.8"
variation 1791
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="c"
/replace="t"
/db_xref="dbSNP:368354140"
variation 1806
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="a"
/replace="g"
/db_xref="dbSNP:372903598"
variation 1811
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="a"
/replace="g"
/db_xref="dbSNP:141042003"
variation 1832
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="c"
/replace="t"
/db_xref="dbSNP:374496321"
variation 1833
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="a"
/replace="g"
/db_xref="dbSNP:367784503"
variation 1835
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="a"
/replace="g"
/db_xref="dbSNP:371382038"
variation 1853
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="c"
/replace="t"
/db_xref="dbSNP:188712175"
exon 1880..1928
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/inference="alignment:Splign:1.39.8"
variation 1901
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="c"
/replace="t"
/db_xref="dbSNP:371703522"
variation 1923
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="c"
/replace="t"
/db_xref="dbSNP:201990443"
exon 1929..2006
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/inference="alignment:Splign:1.39.8"
variation 1950
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="c"
/replace="g"
/db_xref="dbSNP:373274069"
variation 1953
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="a"
/replace="g"
/db_xref="dbSNP:377322004"
variation 1958
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="a"
/replace="g"
/db_xref="dbSNP:200182514"
variation 1960
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="c"
/replace="t"
/db_xref="dbSNP:145048480"
variation 1967
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="c"
/replace="t"
/db_xref="dbSNP:138909927"
variation 1997
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="c"
/replace="t"
/db_xref="dbSNP:200755968"
exon 2007..2657
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/inference="alignment:Splign:1.39.8"
variation 2063
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="a"
/replace="g"
/db_xref="dbSNP:17355294"
variation 2076
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="a"
/replace="t"
/db_xref="dbSNP:369641186"
variation 2078
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="c"
/replace="t"
/db_xref="dbSNP:373507858"
variation 2086
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="c"
/replace="t"
/db_xref="dbSNP:376438789"
variation 2087
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="c"
/replace="g"
/db_xref="dbSNP:11541392"
variation 2091
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="a"
/replace="c"
/db_xref="dbSNP:201071293"
variation 2092
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="a"
/replace="g"
/db_xref="dbSNP:373401342"
variation 2114
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="c"
/replace="g"
/db_xref="dbSNP:375786356"
variation 2136
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="g"
/replace="t"
/db_xref="dbSNP:138313632"
variation 2138
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="c"
/replace="t"
/db_xref="dbSNP:201845769"
variation 2141
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="a"
/replace="g"
/db_xref="dbSNP:370086474"
variation 2153
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="a"
/replace="g"
/db_xref="dbSNP:148955712"
variation 2157
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="a"
/replace="g"
/db_xref="dbSNP:201055157"
variation 2161
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="c"
/replace="t"
/db_xref="dbSNP:370835233"
variation 2165
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="c"
/replace="g"
/db_xref="dbSNP:375012431"
variation 2167
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="a"
/replace="g"
/db_xref="dbSNP:368273358"
variation 2179
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="a"
/replace="g"
/db_xref="dbSNP:372873984"
variation 2192
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="c"
/replace="t"
/db_xref="dbSNP:62397300"
variation 2194
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="c"
/replace="t"
/db_xref="dbSNP:376031039"
variation 2219..2220
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace=""
/replace="a"
/db_xref="dbSNP:34379285"
variation 2238
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="a"
/replace="t"
/db_xref="dbSNP:8087"
STS 2271..2390
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/standard_name="RH99066"
/db_xref="UniSTS:84617"
variation 2298
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="a"
/replace="g"
/db_xref="dbSNP:183307287"
variation 2324
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="a"
/replace="g"
/db_xref="dbSNP:10072198"
variation 2344
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="c"
/replace="g"
/db_xref="dbSNP:11541393"
variation 2448
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="a"
/replace="c"
/db_xref="dbSNP:371385294"
variation 2497
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="c"
/replace="t"
/db_xref="dbSNP:143694823"
variation 2511
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="c"
/replace="t"
/db_xref="dbSNP:138228772"
polyA_signal 2623..2628
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
variation 2633
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="c"
/replace="t"
/db_xref="dbSNP:113545203"
polyA_site 2643
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
variation 2653
/gene="RUFY1"
/gene_synonym="RABIP4; ZFYVE12"
/replace="a"
/replace="g"
/db_xref="dbSNP:73810815"
ORIGIN
aaaaatggaaccggggttgcgggagaagccaaacgcggcgagtcttgctaaagccgtcgccgtagcaacgcgcggagccgtctgggagaggcctctggagcaggaggcccagtggctcttctgacccaaggccccgccgtccaggtagggggctgtggcctctagggatcagggactacttacctgcgaatcccggttgcccgcccgccagcacgtccgttccctaagcagaccgcctggcctcctgcctgacccgtcttctcaccgttgcccggagtctgacctccccacgctcagtccactaacgaagctatccctgctcctgccccacagcttctaagtgccagatgatggaggagcgtgccaacctgatgcacatgatgaaactcagcatcaaggtgttgctccagtcggctctgagcctgggccgcagcctggatgcggaccatgcccccttgcagcagttctttgtagtgatggagcactgcctcaaacatgggctgaaagttaagaagagttttattggccaaaataaatcattctttggtcctttggagctggtggagaaactttgtccagaagcatcagatatagcgactagtgtcagaaatcttccagaattaaagacagctgtgggaagaggccgagcgtggctttatcttgcactcatgcaaaagaaactggcagattatctgaaagtgcttatagacaataaacatctcttaagcgagttctatgagcctgaggctttaatgatggaggaagaagggatggtgattgttggtctgctggtgggactcaatgttctcgatgccaatctctgcttgaaaggagaagacttggattctcaggttggagtaatagatttttccctctaccttaaggatgtgcaggatcttgatggtggcaaggagcatgaaagaattactgatgtccttgatcaaaaaaattatgtggaagaacttaaccggcacttgagctgcacagttggggatcttcaaaccaagatagatggcttggaaaagactaactcaaagcttcaagaagagctttcagctgcaacagaccgaatttgctcacttcaagaagaacagcagcagttaagagaacaaaatgaattaattcgagaaagaagtgaaaagagtgtagagataacaaaacaggataccaaagttgagctggagacttacaagcaaactcggcaaggtctggatgaaatgtacagtgatgtgtggaagcagctaaaagaggagaagaaagtccggttggaactggaaaaagaactggagttacaaattggaatgaaaaccgaaatggaaattgcaatgaagttactggaaaaggacacccacgagaagcaggacacactagttgccctccgccagcagctggaagaagtcaaagcgattaatttacagatgtttcacaaagctcagaatgcagagagcagtttgcagcagaagaatgaagccatcacatcctttgaaggaaaaaccaaccaagttatgtccagcatgaaacaaatggaagaaaggttgcagcactcggagcgggcgaggcagggggctgaggagcggagccacaagctgcagcaggagctgggcgggaggatcggcgccctgcagctgcagctctcccagctgcacgagcaatgctcaagcctggagaaagaattgaaatcagaaaaagagcaaagacaggctcttcagcgcgaattacagcacgagaaagacacttcctctctactcaggatggagctgcaacaagtggaaggactgaaaaaggagttgcgggagcttcaggacgagaaggcagagctgcagaagatctgcgaggagcaggaacaagccctccaggaaatgggcctgcacctcagccagtccaagctgaagatggaagatataaaagaagtgaaccaggcactgaagggccacgcctggctgaaagatgacgaagcgacacactgtaggcagtgtgagaaggagttctccatttcccggagaaagcaccactgccggaactgtggccacatcttctgcaacacctgctccagcaacgagctggccctgccctcctaccccaagccggtgcgagtgtgcgacagctgccacaccctgctcctgcagcgctgctcctccacggcctcctgaacgtccgtcctcaggagcacagcctcacggacagtgccaaaccctgtgggtctccaggggcttgggaaatgtgttctttcccaagagtatcaaaggaaagaatcaaatttcttgcccggtcactggcactccagaagacagcgtgccggaaccggcagctctcacctttctgtgacttgttcggaattaactcctctggatggaaacttccatcttacttggttacatcacggctctggttcagatacaacttcatgattttgctactatcatttttcacttttcaaagaatttaacctattttacagcagttcagttctgctagtgagtagttttcctctcctaccttccttctaaaaacctgattcatgcacagcgtttgacacacatggagtctgccagtgtgccttctctgcttcagacaagagatctgccatttcatgcccttgtgactacctatcattggccctgcaataaaatcatttatttttcactctggtgcgtgcaaaaaaaaaaaaaaaaaa
//
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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