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 27-MAR-2024, entry version 158. 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}. CC --------------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC --------------------------------------------------------------------------- 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; 35. DR IntAct; Q8WXA3; 20. DR MINT; Q8WXA3; -. DR STRING; 9606.ENSP00000373420; -. DR GlyCosmos; Q8WXA3; 1 site, 1 glycan. 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; 9606-ENSP00000373420; -. DR PeptideAtlas; 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 Pumba; Q8WXA3; -. DR Antibodypedia; 45205; 93 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 AGR; HGNC:19761; -. DR CTD; 55680; -. DR DisGeNET; 55680; -. DR GeneCards; RUFY2; -. DR HGNC; HGNC:19761; RUFY2. DR HPA; ENSG00000204130; Tissue enhanced (brain). 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; KNDMISR; -. DR OrthoDB; 5385125at2759; -. DR PhylomeDB; Q8WXA3; -. DR TreeFam; TF323904; -. DR PathwayCommons; Q8WXA3; -. DR SignaLink; Q8WXA3; -. DR BioGRID-ORCS; 55680; 14 hits in 1162 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 133 other cell types or tissues. DR ExpressionAtlas; Q8WXA3; baseline and differential. 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 CDD; cd15759; FYVE_RUFY2; 1. DR CDD; cd17695; RUN_RUFY2; 1. DR Gene3D; 1.20.5.170; -; 1. DR Gene3D; 1.20.58.900; -; 1. DR Gene3D; 3.30.40.10; Zinc/RING finger domain, C3HC4 (zinc finger); 1. DR InterPro; IPR047333; FYVE_RUFY2. DR InterPro; IPR047335; RUFY1-3. DR InterPro; IPR004012; Run_dom. DR InterPro; IPR037213; Run_dom_sf. DR InterPro; IPR047332; RUN_RUFY2. 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 PANTHER; PTHR45956:SF3; RUN AND FYVE DOMAIN-CONTAINING PROTEIN 2; 1. DR PANTHER; PTHR45956; RUN AND FYVE DOMAIN-CONTAINING PROTEIN 2-LIKE PROTEIN; 1. DR Pfam; PF01363; FYVE; 1. DR Pfam; PF02759; RUN; 1. DR SMART; SM00064; FYVE; 1. DR SMART; SM00593; RUN; 1. DR SUPFAM; SSF57903; FYVE/PHD zinc finger; 1. DR SUPFAM; SSF140741; RUN domain-like; 1. DR PROSITE; PS50826; RUN; 1. DR PROSITE; PS50178; ZF_FYVE; 1. DR Genevisible; Q8WXA3; HS. 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 //