RUFY2_HUMAN
ID RUFY2_HUMAN Reviewed; 606 AA.
AC Q8WXA3; B3KXB2; B4DFR0; Q5TC48; Q8IW33; Q96P51; Q9P1Z1;
DT 11-JUL-2006, integrated into UniProtKB/Swiss-Prot.
DT 28-MAR-2018, sequence version 3.
DT 03-AUG-2022, entry version 149.
DE RecName: Full=RUN and FYVE domain-containing protein 2;
DE AltName: Full=Rab4-interacting protein related;
GN Name=RUFY2; Synonyms=KIAA1537, RABIP4R;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), INTERACTION WITH BMX, AND TISSUE
RP SPECIFICITY.
RX PubMed=11877430; DOI=10.1074/jbc.m111933200;
RA Yang J., Kim O., Wu J., Qiu Y.;
RT "Interaction between tyrosine kinase Etk and a RUN-domain and FYVE-domain
RT containing protein RUFY1. A possible role of Etk in regulation of vesicle
RT trafficking.";
RL J. Biol. Chem. 277:30219-30226(2002).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 5).
RC TISSUE=Brain;
RX PubMed=10819331; DOI=10.1093/dnares/7.2.143;
RA Nagase T., Kikuno R., Ishikawa K., Hirosawa M., Ohara O.;
RT "Prediction of the coding sequences of unidentified human genes. XVII. The
RT complete sequences of 100 new cDNA clones from brain which code for large
RT proteins in vitro.";
RL DNA Res. 7:143-150(2000).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 4).
RC TISSUE=Amygdala, and Brain;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15164054; DOI=10.1038/nature02462;
RA Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L.,
RA Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K.,
RA Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L.,
RA Taylor A., Battles J., Bird C.P., Ainscough R., Almeida J.P.,
RA Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J.,
RA Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y.,
RA Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P.,
RA Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N.,
RA Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A.,
RA Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C.,
RA Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D.,
RA Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C.,
RA Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K.,
RA Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A.,
RA Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S.,
RA McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S.,
RA Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V.,
RA Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A.,
RA Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M.,
RA Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A.,
RA Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P.,
RA Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y.,
RA Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D.,
RA Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.;
RT "The DNA sequence and comparative analysis of human chromosome 10.";
RL Nature 429:375-381(2004).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [7]
RP SEQUENCE REVISION.
RX PubMed=12168954; DOI=10.1093/dnares/9.3.99;
RA Nakajima D., Okazaki N., Yamakawa H., Kikuno R., Ohara O., Nagase T.;
RT "Construction of expression-ready cDNA clones for KIAA genes: manual
RT curation of 330 KIAA cDNA clones.";
RL DNA Res. 9:99-106(2002).
RN [8]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 17-606 (ISOFORM 1).
RA Hong W.;
RT "Rabip4R, a Run- and FYVE-domain containing protein related to Rabip4.";
RL Submitted (AUG-2001) to the EMBL/GenBank/DDBJ databases.
RN [9]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=18669648; DOI=10.1073/pnas.0805139105;
RA Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E.,
RA Elledge S.J., Gygi S.P.;
RT "A quantitative atlas of mitotic phosphorylation.";
RL Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008).
CC -!- SUBUNIT: Interacts with BMX. {ECO:0000269|PubMed:11877430}.
CC -!- INTERACTION:
CC Q8WXA3-4; Q14088: RAB33A; NbExp=3; IntAct=EBI-19117969, EBI-744685;
CC Q8WXA3-4; Q9H082: RAB33B; NbExp=3; IntAct=EBI-19117969, EBI-3048549;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=5;
CC Name=1;
CC IsoId=Q8WXA3-2; Sequence=Displayed;
CC Name=5;
CC IsoId=Q8WXA3-1; Sequence=VSP_059506;
CC Name=2;
CC IsoId=Q8WXA3-3; Sequence=VSP_059505;
CC Name=3;
CC IsoId=Q8WXA3-4; Sequence=VSP_059508, VSP_059509, VSP_059510;
CC Name=4;
CC IsoId=Q8WXA3-5; Sequence=VSP_059507, VSP_059509, VSP_059510;
CC -!- TISSUE SPECIFICITY: Expressed in brain, lung and testis.
CC {ECO:0000269|PubMed:11877430}.
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DR EMBL; AF461266; AAL67520.1; -; mRNA.
DR EMBL; AB040970; BAA96061.1; -; mRNA.
DR EMBL; AK127019; BAG54424.1; -; mRNA.
DR EMBL; AK294211; BAG57521.1; -; mRNA.
DR EMBL; AL136233; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC016395; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471083; EAW54294.1; -; Genomic_DNA.
DR EMBL; BC041092; AAH41092.1; -; mRNA.
DR EMBL; AF411980; AAL04164.1; -; mRNA.
DR CCDS; CCDS41534.1; -. [Q8WXA3-3]
DR CCDS; CCDS44414.1; -. [Q8WXA3-4]
DR CCDS; CCDS60544.1; -. [Q8WXA3-5]
DR CCDS; CCDS81470.1; -. [Q8WXA3-2]
DR RefSeq; NP_001035882.1; NM_001042417.1. [Q8WXA3-4]
DR RefSeq; NP_001265154.1; NM_001278225.1. [Q8WXA3-5]
DR RefSeq; NP_001317032.1; NM_001330103.1. [Q8WXA3-2]
DR RefSeq; NP_060457.4; NM_017987.4. [Q8WXA3-3]
DR RefSeq; XP_005270012.1; XM_005269955.4.
DR RefSeq; XP_011538244.1; XM_011539942.2. [Q8WXA3-2]
DR AlphaFoldDB; Q8WXA3; -.
DR SMR; Q8WXA3; -.
DR BioGRID; 120809; 32.
DR IntAct; Q8WXA3; 19.
DR MINT; Q8WXA3; -.
DR STRING; 9606.ENSP00000373420; -.
DR GlyGen; Q8WXA3; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q8WXA3; -.
DR PhosphoSitePlus; Q8WXA3; -.
DR BioMuta; RUFY2; -.
DR DMDM; 110287949; -.
DR EPD; Q8WXA3; -.
DR jPOST; Q8WXA3; -.
DR MassIVE; Q8WXA3; -.
DR MaxQB; Q8WXA3; -.
DR PaxDb; Q8WXA3; -.
DR PeptideAtlas; Q8WXA3; -.
DR PRIDE; Q8WXA3; -.
DR ProteomicsDB; 4068; -.
DR ProteomicsDB; 74994; -. [Q8WXA3-1]
DR ProteomicsDB; 74995; -. [Q8WXA3-2]
DR ProteomicsDB; 74996; -. [Q8WXA3-3]
DR ProteomicsDB; 74997; -. [Q8WXA3-4]
DR Antibodypedia; 45205; 83 antibodies from 20 providers.
DR DNASU; 55680; -.
DR Ensembl; ENST00000388768.6; ENSP00000373420.2; ENSG00000204130.14. [Q8WXA3-3]
DR Ensembl; ENST00000399200.7; ENSP00000382151.2; ENSG00000204130.14. [Q8WXA3-4]
DR Ensembl; ENST00000454950.6; ENSP00000404986.2; ENSG00000204130.14. [Q8WXA3-5]
DR Ensembl; ENST00000602465.6; ENSP00000473462.1; ENSG00000204130.14. [Q8WXA3-2]
DR GeneID; 55680; -.
DR KEGG; hsa:55680; -.
DR MANE-Select; ENST00000602465.6; ENSP00000473462.1; NM_001330103.2; NP_001317032.1.
DR UCSC; uc001job.4; human. [Q8WXA3-2]
DR CTD; 55680; -.
DR DisGeNET; 55680; -.
DR GeneCards; RUFY2; -.
DR HGNC; HGNC:19761; RUFY2.
DR HPA; ENSG00000204130; Low tissue specificity.
DR MIM; 610328; gene.
DR neXtProt; NX_Q8WXA3; -.
DR OpenTargets; ENSG00000204130; -.
DR PharmGKB; PA134935922; -.
DR VEuPathDB; HostDB:ENSG00000204130; -.
DR eggNOG; KOG4381; Eukaryota.
DR GeneTree; ENSGT00940000155595; -.
DR HOGENOM; CLU_014576_3_1_1; -.
DR InParanoid; Q8WXA3; -.
DR OMA; IRHDECI; -.
DR OrthoDB; 753155at2759; -.
DR PhylomeDB; Q8WXA3; -.
DR TreeFam; TF323904; -.
DR PathwayCommons; Q8WXA3; -.
DR SignaLink; Q8WXA3; -.
DR BioGRID-ORCS; 55680; 13 hits in 1084 CRISPR screens.
DR ChiTaRS; RUFY2; human.
DR GenomeRNAi; 55680; -.
DR Pharos; Q8WXA3; Tbio.
DR PRO; PR:Q8WXA3; -.
DR Proteomes; UP000005640; Chromosome 10.
DR RNAct; Q8WXA3; protein.
DR Bgee; ENSG00000204130; Expressed in calcaneal tendon and 132 other tissues.
DR ExpressionAtlas; Q8WXA3; baseline and differential.
DR Genevisible; Q8WXA3; HS.
DR GO; GO:0005737; C:cytoplasm; IDA:UniProtKB.
DR GO; GO:0005768; C:endosome; ISS:UniProtKB.
DR GO; GO:0005634; C:nucleus; IEA:UniProtKB-SubCell.
DR GO; GO:0046872; F:metal ion binding; IEA:UniProtKB-KW.
DR GO; GO:0017124; F:SH3 domain binding; IPI:UniProtKB.
DR GO; GO:0030100; P:regulation of endocytosis; ISS:UniProtKB.
DR Gene3D; 1.20.58.900; -; 1.
DR Gene3D; 3.30.40.10; -; 1.
DR InterPro; IPR004012; Run_dom.
DR InterPro; IPR037213; Run_dom_sf.
DR InterPro; IPR000306; Znf_FYVE.
DR InterPro; IPR017455; Znf_FYVE-rel.
DR InterPro; IPR011011; Znf_FYVE_PHD.
DR InterPro; IPR013083; Znf_RING/FYVE/PHD.
DR Pfam; PF01363; FYVE; 1.
DR Pfam; PF02759; RUN; 1.
DR SMART; SM00064; FYVE; 1.
DR SMART; SM00593; RUN; 1.
DR SUPFAM; SSF140741; SSF140741; 1.
DR SUPFAM; SSF57903; SSF57903; 1.
DR PROSITE; PS50826; RUN; 1.
DR PROSITE; PS50178; ZF_FYVE; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Coiled coil; Metal-binding; Nucleus;
KW Reference proteome; Zinc; Zinc-finger.
FT CHAIN 1..606
FT /note="RUN and FYVE domain-containing protein 2"
FT /id="PRO_0000245830"
FT DOMAIN 37..169
FT /note="RUN"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00178"
FT ZN_FING 540..598
FT /note="FYVE-type"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00091"
FT COILED 210..534
FT /evidence="ECO:0000255"
FT BINDING 546
FT /ligand="Zn(2+)"
FT /ligand_id="ChEBI:CHEBI:29105"
FT /ligand_label="1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00091"
FT BINDING 549
FT /ligand="Zn(2+)"
FT /ligand_id="ChEBI:CHEBI:29105"
FT /ligand_label="1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00091"
FT BINDING 562
FT /ligand="Zn(2+)"
FT /ligand_id="ChEBI:CHEBI:29105"
FT /ligand_label="2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00091"
FT BINDING 565
FT /ligand="Zn(2+)"
FT /ligand_id="ChEBI:CHEBI:29105"
FT /ligand_label="2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00091"
FT BINDING 570
FT /ligand="Zn(2+)"
FT /ligand_id="ChEBI:CHEBI:29105"
FT /ligand_label="1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00091"
FT BINDING 573
FT /ligand="Zn(2+)"
FT /ligand_id="ChEBI:CHEBI:29105"
FT /ligand_label="1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00091"
FT BINDING 590
FT /ligand="Zn(2+)"
FT /ligand_id="ChEBI:CHEBI:29105"
FT /ligand_label="2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00091"
FT BINDING 593
FT /ligand="Zn(2+)"
FT /ligand_id="ChEBI:CHEBI:29105"
FT /ligand_label="2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00091"
FT VAR_SEQ 1
FT /note="M -> MTFQVWGWRREDASQVLAWVPDAEGGRRGMLTRRSL (in
FT isoform 2)"
FT /id="VSP_059505"
FT VAR_SEQ 1
FT /note="M -> MGGDCLGLGGSRGRHGNAPPPLFRPVPARVLRHSGRGLEVPRRPGAR
FT TGP (in isoform 5)"
FT /id="VSP_059506"
FT VAR_SEQ 2..59
FT /note="Missing (in isoform 4)"
FT /id="VSP_059507"
FT VAR_SEQ 99..133
FT /note="KTPLGRARAWLRLALMQKKMADYLRCLIIQRDLLS -> N (in isoform
FT 3)"
FT /id="VSP_059508"
FT VAR_SEQ 402..437
FT /note="RLQQAEKAQMEAEDEDEKYLQECLSKSDSLQKQISQ -> SDNDLLTQTRTI
FT AMSLVKCASSDTQDQYKLVKDISF (in isoform 3 and isoform 4)"
FT /id="VSP_059509"
FT VAR_SEQ 438..606
FT /note="Missing (in isoform 3 and isoform 4)"
FT /id="VSP_059510"
FT VARIANT 573
FT /note="C -> S (in dbSNP:rs11816774)"
FT /id="VAR_060318"
SQ SEQUENCE 606 AA; 70010 MW; BD1100777070BE4A CRC64;
MATKDPTAVE RANLLNMAKL SIKGLIESAL SFGRTLDSDY PPLQQFFVVM EHCLKHGLKV
RKSFLSYNKT IWGPLELVEK LYPEAEEIGA SVRDLPGLKT PLGRARAWLR LALMQKKMAD
YLRCLIIQRD LLSEFYEYHA LMMEEEGAVI VGLLVGLNVI DANLCVKGED LDSQVGVIDF
SMYLKNEEDI GNKERNVQIA AILDQKNYVE ELNRQLNSTV SSLHSRVDSL EKSNTKLIEE
LAIAKNNIIK LQEENHQLRS ENKLILMKTQ QHLEVTKVDV ETELQTYKHS RQGLDEMYNE
ARRQLRDESQ LRQDVENELA VQVSMKHEIE LAMKLLEKDI HEKQDTLIGL RQQLEEVKAI
NIEMYQKLQG SEDGLKEKNE IIARLEEKTN KITAAMRQLE QRLQQAEKAQ MEAEDEDEKY
LQECLSKSDS LQKQISQKEK QLVQLETDLK IEKEWRQTLQ EDLQKEKDAL SHLRNETQQI
ISLKKEFLNL QDENQQLKKI YHEQEQALQE LGNKLSESKL KIEDIKEANK ALQGLVWLKD
KEATHCKLCE KEFSLSKRKH HCRNCGEIFC NACSDNELPL PSSPKPVRVC DSCHALLIQR
CSSNLP
