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Protein

1-phosphatidylinositol 3-phosphate 5-kinase

Gene

PIKFYVE

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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.1 Publication

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section specifies the position(s) and type(s) of zinc fingers within the protein.<p><a href='/help/zn_fing' target='_top'>More...</a></p>Zinc fingeri158 – 218FYVE-typePROSITE-ProRule annotationAdd BLAST61

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionKinase, Transferase
LigandATP-binding, Metal-binding, Nucleotide-binding, Zinc

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

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BioCyci
MetaCyc:HS03825-MONOMER

BRENDA Comprehensive Enzyme Information System

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BRENDAi
2.7.1.150 2681
2.7.1.68 2681

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-1660514 Synthesis of PIPs at the Golgi membrane
R-HSA-1660516 Synthesis of PIPs at the early endosome membrane
R-HSA-1660517 Synthesis of PIPs at the late endosome membrane

SIGNOR Signaling Network Open Resource

More...
SIGNORi
Q9Y2I7

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
1-phosphatidylinositol 3-phosphate 5-kinase (EC:2.7.1.150)
Short name:
Phosphatidylinositol 3-phosphate 5-kinase
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
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:PIKFYVE
Synonyms:KIAA0981, PIP5K3
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 2

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000115020.16

Human Gene Nomenclature Database

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HGNCi
HGNC:23785 PIKFYVE

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
609414 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9Y2I7

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Endosome, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Corneal dystrophy, fleck (CFD)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:121850
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_0253091103K → R in CFD. 1 PublicationCorresponds to variant dbSNP:rs121918336EnsemblClinVar.1

Keywords - Diseasei

Corneal dystrophy, Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
200576

MalaCards human disease database

More...
MalaCardsi
PIKFYVE
MIMi121850 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000115020

Orphanet; a database dedicated to information on rare diseases and orphan drugs

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Orphaneti
98970 Fleck corneal dystrophy

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA165697116

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

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ChEMBLi
CHEMBL1938222

IUPHAR/BPS Guide to PHARMACOLOGY

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GuidetoPHARMACOLOGYi
2857

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
PIKFYVE

Domain mapping of disease mutations (DMDM)

More...
DMDMi
300669693

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemovedCombined sources
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001854522 – 20981-phosphatidylinositol 3-phosphate 5-kinaseAdd BLAST2097

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei2N-acetylalanineCombined sources1
Modified residuei48PhosphoserineCombined sources1
Modified residuei88PhosphoserineCombined sources1
Modified residuei299PhosphoserineCombined sources1
Modified residuei307PhosphoserineCombined sources1
Modified residuei312PhosphoserineBy similarity1
Modified residuei318Phosphoserine; by PKB/AKT1 or PKB/AKT21 Publication1
Modified residuei329PhosphoserineCombined sources1
Modified residuei475PhosphoserineBy similarity1
Modified residuei1544PhosphoserineCombined sources1
Modified residuei1549PhosphoserineCombined sources1
Modified residuei1754PhosphoserineCombined sources1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Phosphorylated in response to insulin at Ser-318 in a protein kinase B (PKB)-dependent manner.1 Publication

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q9Y2I7

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q9Y2I7

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q9Y2I7

PeptideAtlas

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PeptideAtlasi
Q9Y2I7

PRoteomics IDEntifications database

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PRIDEi
Q9Y2I7

ProteomicsDB human proteome resource

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ProteomicsDBi
85801
85802 [Q9Y2I7-2]
85803 [Q9Y2I7-3]
85804 [Q9Y2I7-4]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q9Y2I7

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
Q9Y2I7

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000115020 Expressed in 230 organ(s), highest expression level in secondary oocyte

CleanEx database of gene expression profiles

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CleanExi
HS_PIP5K3

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q9Y2I7 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q9Y2I7 HS

Organism-specific databases

Human Protein Atlas

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HPAi
HPA042604

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

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.2 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

WithEntry#Exp.IntActNotes
VAC14Q08AM64EBI-6138650,EBI-2107455

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
128336, 16 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
Q9Y2I7

Protein interaction database and analysis system

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IntActi
Q9Y2I7, 6 interactors

Molecular INTeraction database

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MINTi
Q9Y2I7

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000264380

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
Q9Y2I7

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q9Y2I7

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini365 – 440DEPPROSITE-ProRule annotationAdd BLAST76
Domaini1758 – 2084PIPKPROSITE-ProRule annotationAdd BLAST327

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni1842 – 2098CatalyticAdd BLAST257

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri158 – 218FYVE-typePROSITE-ProRule annotationAdd BLAST61

Keywords - Domaini

Zinc-finger

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IMP3 Eukaryota
KOG0230 Eukaryota
COG0459 LUCA
COG5253 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000156307

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000059273

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG005775

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q9Y2I7

KEGG Orthology (KO)

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KOi
K00921

Identification of Orthologs from Complete Genome Data

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OMAi
RDYFAEQ

Database for complete collections of gene phylogenies

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PhylomeDBi
Q9Y2I7

TreeFam database of animal gene trees

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TreeFami
TF321717

Family and domain databases

Conserved Domains Database

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CDDi
cd04448 DEP_PIKfyve, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
1.10.10.10, 1 hit
3.30.40.10, 1 hit
3.30.800.10, 1 hit
3.50.7.10, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR002423 Cpn60/TCP-1
IPR000591 DEP_dom
IPR027409 GroEL-like_apical_dom_sf
IPR037378 PIKfyve_DEP
IPR002498 PInositol-4-P-5-kinase_core
IPR027484 PInositol-4-P-5-kinase_N
IPR027410 TCP-1-like_intermed_sf
IPR036388 WH-like_DNA-bd_sf
IPR036390 WH_DNA-bd_sf
IPR000306 Znf_FYVE
IPR017455 Znf_FYVE-rel
IPR011011 Znf_FYVE_PHD
IPR013083 Znf_RING/FYVE/PHD

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00118 Cpn60_TCP1, 1 hit
PF00610 DEP, 1 hit
PF01363 FYVE, 1 hit
PF01504 PIP5K, 2 hits

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00049 DEP, 1 hit
SM00064 FYVE, 1 hit
SM00330 PIPKc, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF46785 SSF46785, 1 hit
SSF52029 SSF52029, 1 hit
SSF54849 SSF54849, 1 hit
SSF57903 SSF57903, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50186 DEP, 1 hit
PS51455 PIPK, 1 hit
PS50178 ZF_FYVE, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (4+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 4 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 4 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9Y2I7-1) [UniParc]FASTAAdd to basket

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.

« Hide
        10         20         30         40         50
MATDDKTSPT LDSANDLPRS PTSPSHLTHF KPLTPDQDEP PFKSAYSSFV
60 70 80 90 100
NLFRFNKERA EGGQGEQQPL SGSWTSPQLP SRTQSVRSPT PYKKQLNEEL
110 120 130 140 150
QRRSSALDTR RKAEPTFGGH DPRTAVQLRS LSTVLKRLKE IMEGKSQDSD
160 170 180 190 200
LKQYWMPDSQ CKECYDCSEK FTTFRRRHHC RLCGQIFCSR CCNQEIPGKF
210 220 230 240 250
MGYTGDLRAC TYCRKIALSY AHSTDSNSIG EDLNALSDSA CSVSVLDPSE
260 270 280 290 300
PRTPVGSRKA SRNIFLEDDL AWQSLIHPDS SNTPLSTRLV SVQEDAGKSP
310 320 330 340 350
ARNRSASITN LSLDRSGSPM VPSYETSVSP QANRTYVRTE TTEDERKILL
360 370 380 390 400
DSVQLKDLWK KICHHSSGME FQDHRYWLRT HPNCIVGKEL VNWLIRNGHI
410 420 430 440 450
ATRAQAIAIG QAMVDGRWLD CVSHHDQLFR DEYALYRPLQ STEFSETPSP
460 470 480 490 500
DSDSVNSVEG HSEPSWFKDI KFDDSDTEQI AEEGDDNLAN SASPSKRTSV
510 520 530 540 550
SSFQSTVDSD SAASISLNVE LDNVNFHIKK PSKYPHVPPH PADQKEYLIS
560 570 580 590 600
DTGGQQLSIS DAFIKESLFN RRVEEKSKEL PFTPLGWHHN NLELLREENG
610 620 630 640 650
EKQAMERLLS ANHNHMMALL QQLLHSDSLS SSWRDIIVSL VCQVVQTVRP
660 670 680 690 700
DVKNQDDDMD IRQFVHIKKI PGGKKFDSVV VNGFVCTKNI AHKKMSSCIK
710 720 730 740 750
NPKILLLKCS IEYLYREETK FTCIDPIVLQ EREFLKNYVQ RIVDVRPTLV
760 770 780 790 800
LVEKTVSRIA QDMLLEHGIT LVINVKSQVL ERISRMTQGD LVMSMDQLLT
810 820 830 840 850
KPHLGTCHKF YMQIFQLPNE QTKTLMFFEG CPQHLGCTIK LRGGSDYELA
860 870 880 890 900
RVKEILIFMI CVAYHSQLEI SFLMDEFAMP PTLMQNPSFH SLIEGRGHEG
910 920 930 940 950
AVQEQYGGGS IPWDPDIPPE SLPCDDSSLL ELRIVFEKGE QENKNLPQAV
960 970 980 990 1000
ASVKHQEHST TACPAGLPCA FFAPVPESLL PLPVDDQQDA LGSEQPETLQ
1010 1020 1030 1040 1050
QTVVLQDPKS QIRAFRDPLQ DDTGLYVTEE VTSSEDKRKT YSLAFKQELK
1060 1070 1080 1090 1100
DVILCISPVI TFREPFLLTE KGMRCSTRDY FAEQVYWSPL LNKEFKEMEN
1110 1120 1130 1140 1150
RRKKQLLRDL SGLQGMNGSI QAKSIQVLPS HELVSTRIAE HLGDSQSLGR
1160 1170 1180 1190 1200
MLADYRARGG RIQPKNSDPF AHSKDASSTS SGQSGSKNEG DEERGLILSD
1210 1220 1230 1240 1250
AVWSTKVDCL NPINHQRLCV LFSSSSAQSS NAPSACVSPW IVTMEFYGKN
1260 1270 1280 1290 1300
DLTLGIFLER YCFRPSYQCP SMFCDTPMVH HIRRFVHGQG CVQIILKELD
1310 1320 1330 1340 1350
SPVPGYQHTI LTYSWCRICK QVTPVVALSN ESWSMSFAKY LELRFYGHQY
1360 1370 1380 1390 1400
TRRANAEPCG HSIHHDYHQY FSYNQMVASF SYSPIRLLEV CVPLPKIFIK
1410 1420 1430 1440 1450
RQAPLKVSLL QDLKDFFQKV SQVYVAIDER LASLKTDTFS KTREEKMEDI
1460 1470 1480 1490 1500
FAQKEMEEGE FKNWIEKMQA RLMSSSVDTP QQLQSVFESL IAKKQSLCEV
1510 1520 1530 1540 1550
LQAWNNRLQD LFQQEKGRKR PSVPPSPGRL RQGEESKISA MDASPRNISP
1560 1570 1580 1590 1600
GLQNGEKEDR FLTTLSSQSS TSSTHLQLPT PPEVMSEQSV GGPPELDTAS
1610 1620 1630 1640 1650
SSEDVFDGHL LGSTDSQVKE KSTMKAIFAN LLPGNSYNPI PFPFDPDKHY
1660 1670 1680 1690 1700
LMYEHERVPI AVCEKEPSSI IAFALSCKEY RNALEELSKA TQWNSAEEGL
1710 1720 1730 1740 1750
PTNSTSDSRP KSSSPIRLPE MSGGQTNRTT ETEPQPTKKA SGMLSFFRGT
1760 1770 1780 1790 1800
AGKSPDLSSQ KRETLRGADS AYYQVGQTGK EGTENQGVEP QDEVDGGDTQ
1810 1820 1830 1840 1850
KKQLINPHVE LQFSDANAKF YCRLYYAGEF HKMREVILDS SEEDFIRSLS
1860 1870 1880 1890 1900
HSSPWQARGG KSGAAFYATE DDRFILKQMP RLEVQSFLDF APHYFNYITN
1910 1920 1930 1940 1950
AVQQKRPTAL AKILGVYRIG YKNSQNNTEK KLDLLVMENL FYGRKMAQVF
1960 1970 1980 1990 2000
DLKGSLRNRN VKTDTGKESC DVVLLDENLL KMVRDNPLYI RSHSKAVLRT
2010 2020 2030 2040 2050
SIHSDSHFLS SHLIIDYSLL VGRDDTSNEL VVGIIDYIRT FTWDKKLEMV
2060 2070 2080 2090
VKSTGILGGQ GKMPTVVSPE LYRTRFCEAM DKYFLMVPDH WTGLGLNC
Length:2,098
Mass (Da):237,136
Last modified:July 13, 2010 - v3
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i390C43530D3B1E81
GO
Isoform 2 (identifier: Q9Y2I7-2) [UniParc]FASTAAdd to basket

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.
Show »
Length:451
Mass (Da):50,211
Checksum:iE5C7D123475EA30E
GO
Isoform 3 (identifier: Q9Y2I7-3) [UniParc]FASTAAdd to basket

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.
Show »
Length:462
Mass (Da):51,476
Checksum:i60E516304C47A038
GO
Isoform 4 (identifier: Q9Y2I7-4) [UniParc]FASTAAdd to basket

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

Note: No experimental confirmation available.
Show »
Length:548
Mass (Da):61,595
Checksum:i46091F5266458F67
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9PDH4E9PDH4_HUMAN
1-phosphatidylinositol 3-phosphate ...
PIKFYVE
1,384Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9JL08C9JL08_HUMAN
1-phosphatidylinositol 3-phosphate ...
PIKFYVE
241Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F8WEZ0F8WEZ0_HUMAN
1-phosphatidylinositol 3-phosphate ...
PIKFYVE
158Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence BAC03674 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti1335M → I in BAC03674 (PubMed:14702039).Curated1
Sequence conflicti2019L → S in BAC03674 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_057097617M → V. Corresponds to variant dbSNP:rs16840913EnsemblClinVar.1
Natural variantiVAR_063406696S → N2 PublicationsCorresponds to variant dbSNP:rs10932258EnsemblClinVar.1
Natural variantiVAR_063407932L → S2 PublicationsCorresponds to variant dbSNP:rs2363468EnsemblClinVar.1
Natural variantiVAR_063408995Q → L2 PublicationsCorresponds to variant dbSNP:rs893254EnsemblClinVar.1
Natural variantiVAR_063409998T → S2 PublicationsCorresponds to variant dbSNP:rs893253EnsemblClinVar.1
Natural variantiVAR_0570981033S → A. Corresponds to variant dbSNP:rs999890EnsemblClinVar.1
Natural variantiVAR_0253091103K → R in CFD. 1 PublicationCorresponds to variant dbSNP:rs121918336EnsemblClinVar.1
Natural variantiVAR_0634101183Q → K3 PublicationsCorresponds to variant dbSNP:rs1529979EnsemblClinVar.1
Natural variantiVAR_0570991858R → Q. Corresponds to variant dbSNP:rs2289170EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_040108108 – 204Missing in isoform 2. 1 PublicationAdd BLAST97
Alternative sequenceiVSP_040109109 – 203TRRKA…KFMGY → NSLQHPQEN in isoform 3. 1 PublicationAdd BLAST95
Alternative sequenceiVSP_040110546 – 548EYL → GRR in isoform 2, isoform 3 and isoform 4. 1 Publication3
Alternative sequenceiVSP_040111549 – 2098Missing in isoform 2, isoform 3 and isoform 4. 1 PublicationAdd BLAST1550

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
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

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS2382.1 [Q9Y2I7-1]
CCDS33368.1 [Q9Y2I7-2]
CCDS54431.1 [Q9Y2I7-4]

NCBI Reference Sequences

More...
RefSeqi
NP_001171471.1, NM_001178000.1 [Q9Y2I7-4]
NP_055855.2, NM_015040.3 [Q9Y2I7-1]
NP_689884.1, NM_152671.3 [Q9Y2I7-2]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.744997

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000264380; ENSP00000264380; ENSG00000115020 [Q9Y2I7-1]
ENST00000308862; ENSP00000308715; ENSG00000115020 [Q9Y2I7-3]
ENST00000392202; ENSP00000376038; ENSG00000115020 [Q9Y2I7-2]
ENST00000407449; ENSP00000384356; ENSG00000115020 [Q9Y2I7-4]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
200576

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:200576

UCSC genome browser

More...
UCSCi
uc002vcv.4 human [Q9Y2I7-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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
CCDSiCCDS2382.1 [Q9Y2I7-1]
CCDS33368.1 [Q9Y2I7-2]
CCDS54431.1 [Q9Y2I7-4]
RefSeqiNP_001171471.1, NM_001178000.1 [Q9Y2I7-4]
NP_055855.2, NM_015040.3 [Q9Y2I7-1]
NP_689884.1, NM_152671.3 [Q9Y2I7-2]
UniGeneiHs.744997

3D structure databases

ProteinModelPortaliQ9Y2I7
SMRiQ9Y2I7
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi128336, 16 interactors
CORUMiQ9Y2I7
IntActiQ9Y2I7, 6 interactors
MINTiQ9Y2I7
STRINGi9606.ENSP00000264380

Chemistry databases

ChEMBLiCHEMBL1938222
GuidetoPHARMACOLOGYi2857

PTM databases

iPTMnetiQ9Y2I7
PhosphoSitePlusiQ9Y2I7

Polymorphism and mutation databases

BioMutaiPIKFYVE
DMDMi300669693

Proteomic databases

EPDiQ9Y2I7
jPOSTiQ9Y2I7
PaxDbiQ9Y2I7
PeptideAtlasiQ9Y2I7
PRIDEiQ9Y2I7
ProteomicsDBi85801
85802 [Q9Y2I7-2]
85803 [Q9Y2I7-3]
85804 [Q9Y2I7-4]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
200576
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000264380; ENSP00000264380; ENSG00000115020 [Q9Y2I7-1]
ENST00000308862; ENSP00000308715; ENSG00000115020 [Q9Y2I7-3]
ENST00000392202; ENSP00000376038; ENSG00000115020 [Q9Y2I7-2]
ENST00000407449; ENSP00000384356; ENSG00000115020 [Q9Y2I7-4]
GeneIDi200576
KEGGihsa:200576
UCSCiuc002vcv.4 human [Q9Y2I7-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
200576
DisGeNETi200576
EuPathDBiHostDB:ENSG00000115020.16

GeneCards: human genes, protein and diseases

More...
GeneCardsi
PIKFYVE
HGNCiHGNC:23785 PIKFYVE
HPAiHPA042604
MalaCardsiPIKFYVE
MIMi121850 phenotype
609414 gene
neXtProtiNX_Q9Y2I7
OpenTargetsiENSG00000115020
Orphaneti98970 Fleck corneal dystrophy
PharmGKBiPA165697116

Human Unidentified Gene-Encoded large proteins database

More...
HUGEi
Search...

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IMP3 Eukaryota
KOG0230 Eukaryota
COG0459 LUCA
COG5253 LUCA
GeneTreeiENSGT00940000156307
HOGENOMiHOG000059273
HOVERGENiHBG005775
InParanoidiQ9Y2I7
KOiK00921
OMAiRDYFAEQ
PhylomeDBiQ9Y2I7
TreeFamiTF321717

Enzyme and pathway databases

BioCyciMetaCyc:HS03825-MONOMER
BRENDAi2.7.1.150 2681
2.7.1.68 2681
ReactomeiR-HSA-1660514 Synthesis of PIPs at the Golgi membrane
R-HSA-1660516 Synthesis of PIPs at the early endosome membrane
R-HSA-1660517 Synthesis of PIPs at the late endosome membrane
SIGNORiQ9Y2I7

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
PIKFYVE human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
PIKFYVE

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
200576

Protein Ontology

More...
PROi
PR:Q9Y2I7

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000115020 Expressed in 230 organ(s), highest expression level in secondary oocyte
CleanExiHS_PIP5K3
ExpressionAtlasiQ9Y2I7 baseline and differential
GenevisibleiQ9Y2I7 HS

Family and domain databases

CDDicd04448 DEP_PIKfyve, 1 hit
Gene3Di1.10.10.10, 1 hit
3.30.40.10, 1 hit
3.30.800.10, 1 hit
3.50.7.10, 1 hit
InterProiView protein in InterPro
IPR002423 Cpn60/TCP-1
IPR000591 DEP_dom
IPR027409 GroEL-like_apical_dom_sf
IPR037378 PIKfyve_DEP
IPR002498 PInositol-4-P-5-kinase_core
IPR027484 PInositol-4-P-5-kinase_N
IPR027410 TCP-1-like_intermed_sf
IPR036388 WH-like_DNA-bd_sf
IPR036390 WH_DNA-bd_sf
IPR000306 Znf_FYVE
IPR017455 Znf_FYVE-rel
IPR011011 Znf_FYVE_PHD
IPR013083 Znf_RING/FYVE/PHD
PfamiView protein in Pfam
PF00118 Cpn60_TCP1, 1 hit
PF00610 DEP, 1 hit
PF01363 FYVE, 1 hit
PF01504 PIP5K, 2 hits
SMARTiView protein in SMART
SM00049 DEP, 1 hit
SM00064 FYVE, 1 hit
SM00330 PIPKc, 1 hit
SUPFAMiSSF46785 SSF46785, 1 hit
SSF52029 SSF52029, 1 hit
SSF54849 SSF54849, 1 hit
SSF57903 SSF57903, 1 hit
PROSITEiView protein in PROSITE
PS50186 DEP, 1 hit
PS51455 PIPK, 1 hit
PS50178 ZF_FYVE, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiFYV1_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9Y2I7
Secondary accession number(s): Q08AR7
, Q08AR8, Q53ST3, Q53T36, Q8N5H0, Q8NB67
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: July 13, 2010
Last modified: January 16, 2019
This is version 185 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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