Q9Y2I7 (FYV1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
1-phosphatidylinositol 3-phosphate 5-kinase
Short name=Phosphatidylinositol 3-phosphate 5-kinase
EC=2.7.1.150

Alternative name(s):
FYVE finger-containing phosphoinositide kinase
PIKfyve
Phosphatidylinositol 3-phosphate 5-kinase type III
Short name=PIPkin-III
Short name=Type III PIP kinase

Gene names

Name:	PIKFYVE
Synonyms:	KIAA0981, PIP5K3

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	2098 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	The PI(3,5)P2 regulatory complex regulates both the synthesis and turnover of phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2). Catalyzes the phosphorylation of phosphatidylinositol 3-phosphate on the fifth hydroxyl of the myo-inositol ring, to form phosphatidylinositol 3,5-bisphosphate. Required for endocytic-vacuolar pathway and nuclear migration. Plays a role in the biogenesis of endosome carrier vesicles (ECV)/ multivesicular bodies (MVB) transport intermediates from early endosomes. Ref.10
Catalytic activity	ATP + 1-phosphatidyl-1D-myo-inositol 3-phosphate = ADP + 1-phosphatidyl-1D-myo-inositol 3,5-bisphosphate.
Subunit structure	Component of the PI(3,5)P2 regulatory complex/PAS complex, at least composed of PIKFYVE, FIG4 and VAC14. VAC14 nucleates the assembly of the complex and serves as a scaffold. Ref.10 Ref.11
Subcellular location	Endosome membrane. Note: Mainly associated with membranes of the late endocytic pathway. Ref.7 Ref.10
Involvement in disease	Corneal dystrophy, fleck (CFD) [MIM:121850]: A form of stromal corneal dystrophy characterized by numerous small white flecks scattered in all levels of the stroma, with configurations varying from semicircular to wreath-like, curvilinear, or punctate. Although CFD may occasionally cause mild photophobia, patients are typically asymptomatic and have normal vision. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.16
Sequence similarities	Contains 1 DEP domain. Contains 1 FYVE-type zinc finger. Contains 1 PIPK domain.
Sequence caution	The sequence BAC03674.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

Ontologies

Keywords
Cellular component	Endosome Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Corneal dystrophy Disease mutation
Domain	Zinc-finger
Ligand	ATP-binding Metal-binding Nucleotide-binding Zinc
Molecular function	Kinase Transferase
PTM	Acetylation Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	cellular protein metabolic process Inferred from electronic annotation. Source: InterPro intracellular signal transduction Inferred from electronic annotation. Source: InterPro myelin assembly Inferred from electronic annotation. Source: Compara protein localization to nucleus Inferred from mutant phenotype PubMed 17909029. Source: UniProtKB retrograde transport, endosome to Golgi Inferred from mutant phenotype PubMed 14551253PubMed 16954148. Source: UniProtKB small molecule metabolic process Traceable author statement. Source: Reactome
Cellular_component	Golgi membrane Traceable author statement. Source: Reactome cytoplasmic vesicle Inferred from electronic annotation. Source: Compara cytosol Inferred from electronic annotation. Source: Compara early endosome membrane Inferred from direct assay PubMed 16448788PubMed 16954148. Source: UniProtKB late endosome membrane Traceable author statement. Source: Reactome membrane raft Inferred from direct assay PubMed 15046600. Source: HGNC perinuclear region of cytoplasm Inferred from electronic annotation. Source: Compara
Molecular_function	1-phosphatidylinositol-3-phosphate 5-kinase activity Inferred from electronic annotation. Source: EC 1-phosphatidylinositol-4-phosphate 5-kinase activity Traceable author statement PubMed 15046600. Source: HGNC ATP binding Inferred from electronic annotation. Source: UniProtKB-KW metal ion binding Inferred from electronic annotation. Source: UniProtKB-KW phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity Traceable author statement. Source: Reactome
Complete GO annotation...

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q9Y2I7-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: Q9Y2I7-2)

The sequence of this isoform differs from the canonical sequence as follows:
     108-204: Missing.
     546-548: EYL → GRR
     549-2098: Missing.

Note: No experimental confirmation available.

Isoform 3 (identifier: Q9Y2I7-3)

The sequence of this isoform differs from the canonical sequence as follows:
     109-203: TRRKAEPTFG...QEIPGKFMGY → NSLQHPQEN
     546-548: EYL → GRR
     549-2098: Missing.

Note: No experimental confirmation available.

Isoform 4 (identifier: Q9Y2I7-4)

The sequence of this isoform differs from the canonical sequence as follows:
     546-548: EYL → GRR
     549-2098: Missing.

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Initiator methionine	1	1	Removed Ref.14
	Chain	2 – 2098	2097	1-phosphatidylinositol 3-phosphate 5-kinase		PRO_0000185452
Regions
	Domain	365 – 440	76	DEP
	Domain	1758 – 2084	327	PIPK
	Zinc finger	158 – 218	61	FYVE-type
	Region	1842 – 2098	257	Catalytic
Amino acid modifications
	Modified residue	2	1	N-acetylalanine Ref.14
	Modified residue	299	1	Phosphoserine Ref.12 Ref.14
	Modified residue	307	1	Phosphoserine By similarity
	Modified residue	318	1	Phosphoserine; by PKB/AKT1 or PKB/AKT2
	Modified residue	329	1	Phosphoserine Ref.13
	Modified residue	1544	1	Phosphoserine Ref.12 Ref.14
	Modified residue	1549	1	Phosphoserine Ref.14
	Modified residue	1754	1	Phosphoserine Ref.14
Natural variations
	Alternative sequence	108 – 204	97	Missing in isoform 2.		VSP_040108
	Alternative sequence	109 – 203	95	TRRKA…KFMGY → NSLQHPQEN in isoform 3.		VSP_040109
	Alternative sequence	546 – 548	3	EYL → GRR in isoform 2, isoform 3 and isoform 4.		VSP_040110
	Alternative sequence	549 – 2098	1550	Missing in isoform 2, isoform 3 and isoform 4.		VSP_040111
	Natural variant	617	1	M → V. Corresponds to variant rs16840913 [ dbSNP | Ensembl ].		VAR_057097
	Natural variant	696	1	S → N. Ref.1 Ref.3 Corresponds to variant rs10932258 [ dbSNP | Ensembl ].		VAR_063406
	Natural variant	932	1	L → S. Ref.1 Ref.3 Corresponds to variant rs2363468 [ dbSNP | Ensembl ].		VAR_063407
	Natural variant	995	1	Q → L. Ref.1 Ref.3 Corresponds to variant rs893254 [ dbSNP | Ensembl ].		VAR_063408
	Natural variant	998	1	T → S. Ref.1 Ref.3 Corresponds to variant rs893253 [ dbSNP | Ensembl ].		VAR_063409
	Natural variant	1033	1	S → A. Corresponds to variant rs999890 [ dbSNP | Ensembl ].		VAR_057098
	Natural variant	1103	1	K → R in CFD. Ref.16		VAR_025309
	Natural variant	1183	1	Q → K. Ref.1 Ref.3 Ref.5 Corresponds to variant rs1529979 [ dbSNP | Ensembl ].		VAR_063410
	Natural variant	1858	1	R → Q. Corresponds to variant rs2289170 [ dbSNP | Ensembl ].		VAR_057099
Experimental info
	Sequence conflict	1335	1	M → I in BAC03674. Ref.5
	Sequence conflict	2019	1	L → S in BAC03674. Ref.5

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified July 13, 2010. Version 3. Checksum: 390C43530D3B1E81	FASTA	2,098	237,136
	10 20 30 40 50 60 MATDDKTSPT LDSANDLPRS PTSPSHLTHF KPLTPDQDEP PFKSAYSSFV NLFRFNKERA 70 80 90 100 110 120 EGGQGEQQPL SGSWTSPQLP SRTQSVRSPT PYKKQLNEEL QRRSSALDTR RKAEPTFGGH 130 140 150 160 170 180 DPRTAVQLRS LSTVLKRLKE IMEGKSQDSD LKQYWMPDSQ CKECYDCSEK FTTFRRRHHC 190 200 210 220 230 240 RLCGQIFCSR CCNQEIPGKF MGYTGDLRAC TYCRKIALSY AHSTDSNSIG EDLNALSDSA 250 260 270 280 290 300 CSVSVLDPSE PRTPVGSRKA SRNIFLEDDL AWQSLIHPDS SNTPLSTRLV SVQEDAGKSP 310 320 330 340 350 360 ARNRSASITN LSLDRSGSPM VPSYETSVSP QANRTYVRTE TTEDERKILL DSVQLKDLWK 370 380 390 400 410 420 KICHHSSGME FQDHRYWLRT HPNCIVGKEL VNWLIRNGHI ATRAQAIAIG QAMVDGRWLD 430 440 450 460 470 480 CVSHHDQLFR DEYALYRPLQ STEFSETPSP DSDSVNSVEG HSEPSWFKDI KFDDSDTEQI 490 500 510 520 530 540 AEEGDDNLAN SASPSKRTSV SSFQSTVDSD SAASISLNVE LDNVNFHIKK PSKYPHVPPH 550 560 570 580 590 600 PADQKEYLIS DTGGQQLSIS DAFIKESLFN RRVEEKSKEL PFTPLGWHHN NLELLREENG 610 620 630 640 650 660 EKQAMERLLS ANHNHMMALL QQLLHSDSLS SSWRDIIVSL VCQVVQTVRP DVKNQDDDMD 670 680 690 700 710 720 IRQFVHIKKI PGGKKFDSVV VNGFVCTKNI AHKKMSSCIK NPKILLLKCS IEYLYREETK 730 740 750 760 770 780 FTCIDPIVLQ EREFLKNYVQ RIVDVRPTLV LVEKTVSRIA QDMLLEHGIT LVINVKSQVL 790 800 810 820 830 840 ERISRMTQGD LVMSMDQLLT KPHLGTCHKF YMQIFQLPNE QTKTLMFFEG CPQHLGCTIK 850 860 870 880 890 900 LRGGSDYELA RVKEILIFMI CVAYHSQLEI SFLMDEFAMP PTLMQNPSFH SLIEGRGHEG 910 920 930 940 950 960 AVQEQYGGGS IPWDPDIPPE SLPCDDSSLL ELRIVFEKGE QENKNLPQAV ASVKHQEHST 970 980 990 1000 1010 1020 TACPAGLPCA FFAPVPESLL PLPVDDQQDA LGSEQPETLQ QTVVLQDPKS QIRAFRDPLQ 1030 1040 1050 1060 1070 1080 DDTGLYVTEE VTSSEDKRKT YSLAFKQELK DVILCISPVI TFREPFLLTE KGMRCSTRDY 1090 1100 1110 1120 1130 1140 FAEQVYWSPL LNKEFKEMEN RRKKQLLRDL SGLQGMNGSI QAKSIQVLPS HELVSTRIAE 1150 1160 1170 1180 1190 1200 HLGDSQSLGR MLADYRARGG RIQPKNSDPF AHSKDASSTS SGQSGSKNEG DEERGLILSD 1210 1220 1230 1240 1250 1260 AVWSTKVDCL NPINHQRLCV LFSSSSAQSS NAPSACVSPW IVTMEFYGKN DLTLGIFLER 1270 1280 1290 1300 1310 1320 YCFRPSYQCP SMFCDTPMVH HIRRFVHGQG CVQIILKELD SPVPGYQHTI LTYSWCRICK 1330 1340 1350 1360 1370 1380 QVTPVVALSN ESWSMSFAKY LELRFYGHQY TRRANAEPCG HSIHHDYHQY FSYNQMVASF 1390 1400 1410 1420 1430 1440 SYSPIRLLEV CVPLPKIFIK RQAPLKVSLL QDLKDFFQKV SQVYVAIDER LASLKTDTFS 1450 1460 1470 1480 1490 1500 KTREEKMEDI FAQKEMEEGE FKNWIEKMQA RLMSSSVDTP QQLQSVFESL IAKKQSLCEV 1510 1520 1530 1540 1550 1560 LQAWNNRLQD LFQQEKGRKR PSVPPSPGRL RQGEESKISA MDASPRNISP GLQNGEKEDR 1570 1580 1590 1600 1610 1620 FLTTLSSQSS TSSTHLQLPT PPEVMSEQSV GGPPELDTAS SSEDVFDGHL LGSTDSQVKE 1630 1640 1650 1660 1670 1680 KSTMKAIFAN LLPGNSYNPI PFPFDPDKHY LMYEHERVPI AVCEKEPSSI IAFALSCKEY 1690 1700 1710 1720 1730 1740 RNALEELSKA TQWNSAEEGL PTNSTSDSRP KSSSPIRLPE MSGGQTNRTT ETEPQPTKKA 1750 1760 1770 1780 1790 1800 SGMLSFFRGT AGKSPDLSSQ KRETLRGADS AYYQVGQTGK EGTENQGVEP QDEVDGGDTQ 1810 1820 1830 1840 1850 1860 KKQLINPHVE LQFSDANAKF YCRLYYAGEF HKMREVILDS SEEDFIRSLS HSSPWQARGG 1870 1880 1890 1900 1910 1920 KSGAAFYATE DDRFILKQMP RLEVQSFLDF APHYFNYITN AVQQKRPTAL AKILGVYRIG 1930 1940 1950 1960 1970 1980 YKNSQNNTEK KLDLLVMENL FYGRKMAQVF DLKGSLRNRN VKTDTGKESC DVVLLDENLL 1990 2000 2010 2020 2030 2040 KMVRDNPLYI RSHSKAVLRT SIHSDSHFLS SHLIIDYSLL VGRDDTSNEL VVGIIDYIRT 2050 2060 2070 2080 2090 FTWDKKLEMV VKSTGILGGQ GKMPTVVSPE LYRTRFCEAM DKYFLMVPDH WTGLGLNC
	Isoform 2 [UniParc]. Checksum: E5C7D123475EA30E	FASTA	451	50,211
	10 20 30 40 50 60 MATDDKTSPT LDSANDLPRS PTSPSHLTHF KPLTPDQDEP PFKSAYSSFV NLFRFNKERA 70 80 90 100 110 120 EGGQGEQQPL SGSWTSPQLP SRTQSVRSPT PYKKQLNEEL QRRSSALGDL RACTYCRKIA 130 140 150 160 170 180 LSYAHSTDSN SIGEDLNALS DSACSVSVLD PSEPRTPVGS RKASRNIFLE DDLAWQSLIH 190 200 210 220 230 240 PDSSNTPLST RLVSVQEDAG KSPARNRSAS ITNLSLDRSG SPMVPSYETS VSPQANRTYV 250 260 270 280 290 300 RTETTEDERK ILLDSVQLKD LWKKICHHSS GMEFQDHRYW LRTHPNCIVG KELVNWLIRN 310 320 330 340 350 360 GHIATRAQAI AIGQAMVDGR WLDCVSHHDQ LFRDEYALYR PLQSTEFSET PSPDSDSVNS 370 380 390 400 410 420 VEGHSEPSWF KDIKFDDSDT EQIAEEGDDN LANSASPSKR TSVSSFQSTV DSDSAASISL 430 440 450 NVELDNVNFH IKKPSKYPHV PPHPADQKGR R
	Isoform 3 [UniParc]. Checksum: 60E516304C47A038	FASTA	462	51,476
	10 20 30 40 50 60 MATDDKTSPT LDSANDLPRS PTSPSHLTHF KPLTPDQDEP PFKSAYSSFV NLFRFNKERA 70 80 90 100 110 120 EGGQGEQQPL SGSWTSPQLP SRTQSVRSPT PYKKQLNEEL QRRSSALDNS LQHPQENTGD 130 140 150 160 170 180 LRACTYCRKI ALSYAHSTDS NSIGEDLNAL SDSACSVSVL DPSEPRTPVG SRKASRNIFL 190 200 210 220 230 240 EDDLAWQSLI HPDSSNTPLS TRLVSVQEDA GKSPARNRSA SITNLSLDRS GSPMVPSYET 250 260 270 280 290 300 SVSPQANRTY VRTETTEDER KILLDSVQLK DLWKKICHHS SGMEFQDHRY WLRTHPNCIV 310 320 330 340 350 360 GKELVNWLIR NGHIATRAQA IAIGQAMVDG RWLDCVSHHD QLFRDEYALY RPLQSTEFSE 370 380 390 400 410 420 TPSPDSDSVN SVEGHSEPSW FKDIKFDDSD TEQIAEEGDD NLANSASPSK RTSVSSFQST 430 440 450 460 VDSDSAASIS LNVELDNVNF HIKKPSKYPH VPPHPADQKG RR
	Isoform 4 [UniParc]. Checksum: 46091F5266458F67	FASTA	548	61,595
	10 20 30 40 50 60 MATDDKTSPT LDSANDLPRS PTSPSHLTHF KPLTPDQDEP PFKSAYSSFV NLFRFNKERA 70 80 90 100 110 120 EGGQGEQQPL SGSWTSPQLP SRTQSVRSPT PYKKQLNEEL QRRSSALDTR RKAEPTFGGH 130 140 150 160 170 180 DPRTAVQLRS LSTVLKRLKE IMEGKSQDSD LKQYWMPDSQ CKECYDCSEK FTTFRRRHHC 190 200 210 220 230 240 RLCGQIFCSR CCNQEIPGKF MGYTGDLRAC TYCRKIALSY AHSTDSNSIG EDLNALSDSA 250 260 270 280 290 300 CSVSVLDPSE PRTPVGSRKA SRNIFLEDDL AWQSLIHPDS SNTPLSTRLV SVQEDAGKSP 310 320 330 340 350 360 ARNRSASITN LSLDRSGSPM VPSYETSVSP QANRTYVRTE TTEDERKILL DSVQLKDLWK 370 380 390 400 410 420 KICHHSSGME FQDHRYWLRT HPNCIVGKEL VNWLIRNGHI ATRAQAIAIG QAMVDGRWLD 430 440 450 460 470 480 CVSHHDQLFR DEYALYRPLQ STEFSETPSP DSDSVNSVEG HSEPSWFKDI KFDDSDTEQI 490 500 510 520 530 540 AEEGDDNLAN SASPSKRTSV SSFQSTVDSD SAASISLNVE LDNVNFHIKK PSKYPHVPPH PADQKGRR

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Human PIKfyve, a PI3P 5-kinase that regulates endocytic trafficking." Cabezas A., Pattni K., Stenmark H. Submitted (NOV-2003) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANTS ASN-696; SER-932; LEU-995; SER-998 AND LYS-1183. Tissue: Brain.
[2]	"Generation and annotation of the DNA sequences of human chromosomes 2 and 4." Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K. Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANTS ASN-696; SER-932; LEU-995; SER-998 AND LYS-1183.
[4]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2; 3 AND 4). Tissue: Brain.
[5]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1037-2098 (ISOFORM 1), VARIANT LYS-1183. Tissue: Brain.
[6]	"Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro." Nagase T., Ishikawa K., Suyama M., Kikuno R., Hirosawa M., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O. DNA Res. 6:63-70(1999) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1521-2098 (ISOFORM 1). Tissue: Brain.
[7]	"Phosphatidylinositol 3-phosphate-interacting domains in PIKfyve. Binding specificity and role in PIKfyve endomembrane localization." Sbrissa D., Ikonomov O.C., Shisheva A. J. Biol. Chem. 277:6073-6079(2002) [PubMed] [Europe PMC] [Abstract] Cited for: SUBCELLULAR LOCATION.
[8]	"Robust phosphoproteomic profiling of tyrosine phosphorylation sites from human T cells using immobilized metal affinity chromatography and tandem mass spectrometry." Brill L.M., Salomon A.R., Ficarro S.B., Mukherji M., Stettler-Gill M., Peters E.C. Anal. Chem. 76:2763-2772(2004) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. Tissue: Leukemic T-cell.
[9]	"Immunoaffinity profiling of tyrosine phosphorylation in cancer cells." Rush J., Moritz A., Lee K.A., Guo A., Goss V.L., Spek E.J., Zhang H., Zha X.-M., Polakiewicz R.D., Comb M.J. Nat. Biotechnol. 23:94-101(2005) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[10]	"Core protein machinery for mammalian phosphatidylinositol 3,5-bisphosphate synthesis and turnover that regulates the progression of endosomal transport. Novel Sac phosphatase joins the ArPIKfyve-PIKfyve complex." Sbrissa D., Ikonomov O.C., Fu Z., Ijuin T., Gruenberg J., Takenawa T., Shisheva A. J. Biol. Chem. 282:23878-23891(2007) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, SUBCELLULAR LOCATION, IDENTIFICATION IN THE PI(3,5)P2 REGULATORY COMPLEX.
[11]	"ArPIKfyve homomeric and heteromeric interactions scaffold PIKfyve and Sac3 in a complex to promote PIKfyve activity and functionality." Sbrissa D., Ikonomov O.C., Fenner H., Shisheva A. J. Mol. Biol. 384:766-779(2008) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION IN THE PI(3,5)P2 REGULATORY COMPLEX.
[12]	"Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle." Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R., Greff Z., Keri G., Stemmann O., Mann M. Mol. Cell 31:438-448(2008) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-299 AND SER-1544, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[13]	"A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-329, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[14]	"Large-scale proteomics analysis of the human kinome." Oppermann F.S., Gnad F., Olsen J.V., Hornberger R., Greff Z., Keri G., Mann M., Daub H. Mol. Cell. Proteomics 8:1751-1764(2009) [PubMed] [Europe PMC] [Abstract] Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-299; SER-1544; SER-1549 AND SER-1754, MASS SPECTROMETRY, CLEAVAGE OF INITIATOR METHIONINE.
[15]	"System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation." Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B. Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[16]	"Mutations in PIP5K3 are associated with Francois-Neetens mouchetee fleck corneal dystrophy." Li S., Tiab L., Jiao X., Munier F.L., Zografos L., Frueh B.E., Sergeev Y., Smith J., Rubin B., Meallet M.A., Forster R.K., Hejtmancik J.F., Schorderet D.F. Am. J. Hum. Genet. 77:54-63(2005) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT CFD ARG-1103.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AY457063 mRNA. Translation: AAR19397.1. AC012362 Genomic DNA. Translation: AAY14870.1. AC016697 Genomic DNA. Translation: AAX93222.1. CH471063 Genomic DNA. Translation: EAW70444.1. CH471063 Genomic DNA. Translation: EAW70445.1. BC032389 mRNA. Translation: AAH32389.1. BC125052 mRNA. Translation: AAI25053.1. BC125053 mRNA. Translation: AAI25054.1. AK091482 mRNA. Translation: BAC03674.1. Different initiation. AB023198 mRNA. Translation: BAA76825.1.
IPI	IPI00181535. IPI00396145. IPI00872138. IPI00879572.
RefSeq	NP_001171471.1. NM_001178000.1. NP_055855.2. NM_015040.3. NP_689884.1. NM_152671.3.
UniGene	Hs.732047.
3D structure databases
ProteinModelPortal	Q9Y2I7.
SMR	Q9Y2I7. Positions 155-191, 590-872, 1819-2025.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9Y2I7. 1 interaction.
STRING	9606.ENSP00000264380.
PTM databases
PhosphoSite	Q9Y2I7.
Polymorphism databases
DMDM	300669693.
Proteomic databases
PaxDb	Q9Y2I7.
PRIDE	Q9Y2I7.
Protocols and materials databases
DNASU	200576.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000264380; ENSP00000264380; ENSG00000115020. ENST00000308862; ENSP00000308715; ENSG00000115020. ENST00000392202; ENSP00000376038; ENSG00000115020. ENST00000407449; ENSP00000384356; ENSG00000115020.
GeneID	200576.
KEGG	hsa:200576.
UCSC	uc002vcv.3. human. uc002vcx.3. human. uc002vcz.3. human.
Organism-specific databases
CTD	200576.
GeneCards	GC02P209130.
HGNC	HGNC:23785. PIKFYVE.
HPA	HPA042604.
MIM	121850. phenotype. 609414. gene.
neXtProt	NX_Q9Y2I7.
Orphanet	98970. Fleck corneal dystrophy.
PharmGKB	PA165697116.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG0459.
HOGENOM	HOG000059273.
HOVERGEN	HBG072055.
InParanoid	Q9Y2I7.
KO	K00921.
OMA	KAEPTFG.
OrthoDB	EOG45755P.
PhylomeDB	Q9Y2I7.
Enzyme and pathway databases
BioCyc	MetaCyc:HS03825-MONOMER.
BRENDA	2.7.1.68. 2681.
Reactome	REACT_111217. Metabolism.
Gene expression databases
ArrayExpress	Q9Y2I7.
Bgee	Q9Y2I7.
CleanEx	HS_PIP5K3.
Genevestigator	Q9Y2I7.
GermOnline	ENSG00000115020. Homo sapiens.
Family and domain databases
Gene3D	1.10.10.10. 1 hit. 3.30.40.10. 1 hit.
InterPro	IPR002423. Cpn60/TCP-1. IPR000591. DEP_dom. IPR002498. PInositol-4-P-5-kinase_core. IPR016034. PInositol-4P-5-kinase_core_sub. IPR011991. WHTH_DNA-bd_dom. IPR000306. Znf_FYVE. IPR017455. Znf_FYVE-rel. IPR011011. Znf_FYVE_PHD. IPR013083. Znf_RING/FYVE/PHD. [Graphical view]
PANTHER	PTHR11353. PTHR11353. 1 hit.
Pfam	PF00118. Cpn60_TCP1. 1 hit. PF00610. DEP. 1 hit. PF01363. FYVE. 1 hit. PF01504. PIP5K. 1 hit. [Graphical view]
SMART	SM00049. DEP. 1 hit. SM00064. FYVE. 1 hit. SM00330. PIPKc. 1 hit. [Graphical view]
SUPFAM	SSF57903. FYVE_PHD_ZnF. 1 hit.
PROSITE	PS50186. DEP. 1 hit. PS51455. PIPK. 1 hit. PS50178. ZF_FYVE. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChEMBL	CHEMBL1938222.
ChiTaRS	PIKFYVE. human.
GenomeRNAi	200576.
NextBio	89946.
SOURCE	Search...

Entry information

Entry name

FYV1_HUMAN

Accession

Primary (citable) accession number: Q9Y2I7
Secondary accession number(s): Q08AR7 , Q08AR8, Q53ST3, Q53T36, Q8N5H0, Q8NB67

Entry history

Integrated into UniProtKB/Swiss-Prot:	December 1, 2000
Last sequence update:	July 13, 2010
Last modified:	May 1, 2013
This is version 127 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.