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UniProtKB - Q9HBF4 (ZFYV1_HUMAN)

Protein

Zinc finger FYVE domain-containing protein 1

Gene

ZFYVE1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri598 – 659FYVE-type 1PROSITE-ProRule annotationAdd BLAST62
Zinc fingeri715 – 775FYVE-type 2PROSITE-ProRule annotationAdd BLAST61

GO - Molecular functioni

  • 1-phosphatidylinositol binding Source: UniProtKB
  • phosphatidylinositol-3,4,5-trisphosphate binding Source: UniProtKB
  • phosphatidylinositol-3,4-bisphosphate binding Source: UniProtKB
  • zinc ion binding Source: UniProtKB
View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

LigandMetal-binding, Zinc

Enzyme and pathway databases

SIGNORiQ9HBF4

Names & Taxonomyi

Protein namesi
Recommended name:
Zinc finger FYVE domain-containing protein 1
Alternative name(s):
Double FYVE-containing protein 1
SR3
Tandem FYVE fingers-1
Gene namesi
Name:ZFYVE1
Synonyms:DFCP1, KIAA1589, TAFF1, ZNFN2A1
ORF Names:PP10436
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 14

Organism-specific databases

EuPathDBiHostDB:ENSG00000165861.13
HGNCiHGNC:13180 ZFYVE1
MIMi605471 gene
neXtProtiNX_Q9HBF4

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

Endoplasmic reticulum, Golgi apparatus

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi616T → R: Partially restore PtdIns3P binding; when associated with R-733. 1 Publication1
Mutagenesisi617K → A: Drastically reduce PtdIns3P binding; when associated with A-619 and A-621. Abolishes PtdIns3P binding; when associated with A-734; A-736 and A-738. 1 Publication1
Mutagenesisi619H → A: Drastically reduce PtdIns3P binding; when associated with A-617 and A-621. Abolishes PtdIns3P binding; when associated with A-734; A-736 and A-738. 1 Publication1
Mutagenesisi621R → A: Drastically reduce PtdIns3P binding; when associated with A-617 and A-619. Abolishes PtdIns3P binding; when associated with A-734; A-736 and A-738. 1 Publication1
Mutagenesisi654C → S: Abolishes PtdIns3P binding; when associated with S-770. 1 Publication1
Mutagenesisi733S → R: Partially restored PtdIns3P binding; when associated with R-616. 1 Publication1
Mutagenesisi734K → A: Drastically reduce PtdIns3P binding; when associated with A-736 and A-738. Abolishes PtdIns3P binding; when associated with A-617; A-619 and A-621. 1 Publication1
Mutagenesisi736H → A: Drastically reduce PtdIns3P binding; when associated with A-734 and A-738. Abolishes PtdIns3P binding; when associated with A-617; A-619 and A-621. 1 Publication1
Mutagenesisi738R → A: Drastically reduce PtdIns3P binding; when associated with A-734 and A-736. Abolishes PtdIns3P binding; when associated with A-617; A-619 and A-621. 1 Publication1
Mutagenesisi770C → S: Abolishes PtdIns3P binding; when associated with S-654. 2 Publications1

Organism-specific databases

DisGeNETi53349
OpenTargetsiENSG00000165861
PharmGKBiPA37752

Polymorphism and mutation databases

BioMutaiZFYVE1
DMDMi34098716

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000987131 – 777Zinc finger FYVE domain-containing protein 1Add BLAST777

Proteomic databases

EPDiQ9HBF4
MaxQBiQ9HBF4
PaxDbiQ9HBF4
PeptideAtlasiQ9HBF4
PRIDEiQ9HBF4
ProteomicsDBi81536
81537 [Q9HBF4-2]

PTM databases

iPTMnetiQ9HBF4
PhosphoSitePlusiQ9HBF4

Expressioni

Tissue specificityi

Isoform 1 is expressed in all tissues examined, including, brain, placenta, lung, liver, skeletal muscle, pancreas and kidney. Isoform 1 and isoform 2 are highly expressed in heart. Isoform 2 is also detected in the testis.

Gene expression databases

BgeeiENSG00000165861 Expressed in 210 organ(s), highest expression level in pancreas
CleanExiHS_ZFYVE1
ExpressionAtlasiQ9HBF4 baseline and differential
GenevisibleiQ9HBF4 HS

Organism-specific databases

HPAiHPA002898

Interactioni

Subunit structurei

Binds to phosphatidylinositol 3-phosphate (PtdIns3P) through its FYVE-type zinc finger.

Binary interactionsi

WithEntry#Exp.IntActNotes
PPP1CAP621362EBI-4401611,EBI-357253

Protein-protein interaction databases

BioGridi119749, 10 interactors
IntActiQ9HBF4, 9 interactors
MINTiQ9HBF4
STRINGi9606.ENSP00000450742

Structurei

3D structure databases

ProteinModelPortaliQ9HBF4
SMRiQ9HBF4
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri598 – 659FYVE-type 1PROSITE-ProRule annotationAdd BLAST62
Zinc fingeri715 – 775FYVE-type 2PROSITE-ProRule annotationAdd BLAST61

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

eggNOGiKOG1818 Eukaryota
ENOG410XNRF LUCA
GeneTreeiENSGT00390000016097
HOGENOMiHOG000044357
HOVERGENiHBG057679
InParanoidiQ9HBF4
KOiK17603
PhylomeDBiQ9HBF4
TreeFamiTF323237

Family and domain databases

Gene3Di3.30.40.10, 2 hits
InterProiView protein in InterPro
IPR027417 P-loop_NTPase
IPR000306 Znf_FYVE
IPR017455 Znf_FYVE-rel
IPR011011 Znf_FYVE_PHD
IPR013083 Znf_RING/FYVE/PHD
PfamiView protein in Pfam
PF01363 FYVE, 2 hits
SMARTiView protein in SMART
SM00064 FYVE, 2 hits
SUPFAMiSSF52540 SSF52540, 1 hit
SSF57903 SSF57903, 2 hits
PROSITEiView protein in PROSITE
PS50178 ZF_FYVE, 2 hits

Sequences (3+)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9HBF4-1) [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
MSAQTSPAEK GLNPGLMCQE SYACSGTDEA IFECDECCSL QCLRCEEELH 
        60         70         80         90        100
RQERLRNHER IRLKPGHVPY CDLCKGLSGH LPGVRQRAIV RCQTCKINLC 
       110        120        130        140        150
LECQKRTHSG GNKRRHPVTV YNVSNLQESL EAEEMDEETK RKKMTEKVVS 
       160        170        180        190        200
FLLVDENEEI QVTNEEDFIR KLDCKPDQHL KVVSIFGNTG DGKSHTLNHT 
       210        220        230        240        250
FFYGREVFKT SPTQESCTVG VWAAYDPVHK VAVIDTEGLL GATVNLSQRT 
       260        270        280        290        300
RLLLKVLAIS DLVIYRTHAD RLHNDLFKFL GDASEAYLKH FTKELKATTA 
       310        320        330        340        350
RCGLDVPLST LGPAVIIFHE TVHTQLLGSD HPSEVPEKLI QDRFRKLGRF 
       360        370        380        390        400
PEAFSSIHYK GTRTYNPPTD FSGLRRALEQ LLENNTTRSP RHPGVIFKAL 
       410        420        430        440        450
KALSDRFSGE IPDDQMAHSS FFPDEYFTCS SLCLSCGVGC KKSMNHGKEG 
       460        470        480        490        500
VPHEAKSRCR YSHQYDNRVY TCKACYERGE EVSVVPKTSA STDSPWMGLA 
       510        520        530        540        550
KYAWSGYVIE CPNCGVVYRS RQYWFGNQDP VDTVVRTEIV HVWPGTDGFL 
       560        570        580        590        600
KDNNNAAQRL LDGMNFMAQS VSELSLGPTK AVTSWLTDQI APAYWRPNSQ 
       610        620        630        640        650
ILSCNKCATS FKDNDTKHHC RACGEGFCDS CSSKTRPVPE RGWGPAPVRV 
       660        670        680        690        700
CDNCYEARNV QLAVTEAQVD DEGGTLIARK VGEAVQNTLG AVVTAIDIPL 
       710        720        730        740        750
GLVKDAARPA YWVPDHEILH CHNCRKEFSI KLSKHHCRAC GQGFCDECSH 
       760        770 
DRRAVPSRGW DHPVRVCFNC NKKPGDL
Length:777
Mass (Da):87,176
Last modified:March 1, 2001 - v1
Checksum:i11B5E561066CBCD5
GO
Isoform 2 (identifier: Q9HBF4-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-415: Missing.

Show »
Length:362
Mass (Da):40,260
Checksum:i70B405CA16F3EE9D
GO
Isoform 3 (identifier: Q9HBF4-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     507-520: Missing.

Show »
Length:763
Mass (Da):85,592
Checksum:i17702137AF3EFED7
GO

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
G3V5N8G3V5N8_HUMAN
Zinc finger FYVE domain-containing ...
ZFYVE1
789Annotation score:

Sequence cautioni

The sequence AAL55826 differs from that shown. Reason: Frameshift at position 480.Curated
The sequence BAB13415 differs from that shown. Reason: Erroneous initiation.Curated
The sequence BAB55085 differs from that shown. Reason: Erroneous termination at position 760. Translated as Trp.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti120V → M in BC014902 (PubMed:15489334).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0080071 – 415Missing in isoform 2. 1 PublicationAdd BLAST415
Alternative sequenceiVSP_056770507 – 520Missing in isoform 3. 1 PublicationAdd BLAST14

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF251025 mRNA Translation: AAG23748.1
AJ310569 mRNA Translation: CAC83950.1
AF311602 mRNA Translation: AAK27339.1
AB046809 mRNA Translation: BAB13415.1 Different initiation.
AK027399 mRNA Translation: BAB55085.1 Different termination.
AL442663 Genomic DNA No translation available.
CH471061 Genomic DNA Translation: EAW81084.1
BC053520 mRNA Translation: AAH53520.1
BC014902 mRNA No translation available.
AF318319 mRNA Translation: AAL55826.1 Frameshift.
CCDSiCCDS41969.1 [Q9HBF4-2]
CCDS61498.1 [Q9HBF4-3]
CCDS9811.1 [Q9HBF4-1]
RefSeqiNP_001268663.1, NM_001281734.1 [Q9HBF4-3]
NP_001268664.1, NM_001281735.1 [Q9HBF4-2]
NP_067083.1, NM_021260.3 [Q9HBF4-1]
NP_848535.1, NM_178441.2 [Q9HBF4-2]
XP_016876862.1, XM_017021373.1 [Q9HBF4-2]
UniGeneiHs.335106

Genome annotation databases

EnsembliENST00000318876; ENSP00000326921; ENSG00000165861 [Q9HBF4-3]
ENST00000394207; ENSP00000377757; ENSG00000165861 [Q9HBF4-2]
ENST00000555072; ENSP00000452232; ENSG00000165861 [Q9HBF4-2]
ENST00000556143; ENSP00000450742; ENSG00000165861 [Q9HBF4-1]
GeneIDi53349
KEGGihsa:53349
UCSCiuc001xnl.5 human [Q9HBF4-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF251025 mRNA Translation: AAG23748.1
AJ310569 mRNA Translation: CAC83950.1
AF311602 mRNA Translation: AAK27339.1
AB046809 mRNA Translation: BAB13415.1 Different initiation.
AK027399 mRNA Translation: BAB55085.1 Different termination.
AL442663 Genomic DNA No translation available.
CH471061 Genomic DNA Translation: EAW81084.1
BC053520 mRNA Translation: AAH53520.1
BC014902 mRNA No translation available.
AF318319 mRNA Translation: AAL55826.1 Frameshift.
CCDSiCCDS41969.1 [Q9HBF4-2]
CCDS61498.1 [Q9HBF4-3]
CCDS9811.1 [Q9HBF4-1]
RefSeqiNP_001268663.1, NM_001281734.1 [Q9HBF4-3]
NP_001268664.1, NM_001281735.1 [Q9HBF4-2]
NP_067083.1, NM_021260.3 [Q9HBF4-1]
NP_848535.1, NM_178441.2 [Q9HBF4-2]
XP_016876862.1, XM_017021373.1 [Q9HBF4-2]
UniGeneiHs.335106

3D structure databases

ProteinModelPortaliQ9HBF4
SMRiQ9HBF4
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi119749, 10 interactors
IntActiQ9HBF4, 9 interactors
MINTiQ9HBF4
STRINGi9606.ENSP00000450742

PTM databases

iPTMnetiQ9HBF4
PhosphoSitePlusiQ9HBF4

Polymorphism and mutation databases

BioMutaiZFYVE1
DMDMi34098716

Proteomic databases

EPDiQ9HBF4
MaxQBiQ9HBF4
PaxDbiQ9HBF4
PeptideAtlasiQ9HBF4
PRIDEiQ9HBF4
ProteomicsDBi81536
81537 [Q9HBF4-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000318876; ENSP00000326921; ENSG00000165861 [Q9HBF4-3]
ENST00000394207; ENSP00000377757; ENSG00000165861 [Q9HBF4-2]
ENST00000555072; ENSP00000452232; ENSG00000165861 [Q9HBF4-2]
ENST00000556143; ENSP00000450742; ENSG00000165861 [Q9HBF4-1]
GeneIDi53349
KEGGihsa:53349
UCSCiuc001xnl.5 human [Q9HBF4-1]

Organism-specific databases

CTDi53349
DisGeNETi53349
EuPathDBiHostDB:ENSG00000165861.13
GeneCardsiZFYVE1
HGNCiHGNC:13180 ZFYVE1
HPAiHPA002898
MIMi605471 gene
neXtProtiNX_Q9HBF4
OpenTargetsiENSG00000165861
PharmGKBiPA37752
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1818 Eukaryota
ENOG410XNRF LUCA
GeneTreeiENSGT00390000016097
HOGENOMiHOG000044357
HOVERGENiHBG057679
InParanoidiQ9HBF4
KOiK17603
PhylomeDBiQ9HBF4
TreeFamiTF323237

Enzyme and pathway databases

SIGNORiQ9HBF4

Miscellaneous databases

ChiTaRSiZFYVE1 human
GeneWikiiZFYVE1
GenomeRNAii53349
PROiPR:Q9HBF4
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000165861 Expressed in 210 organ(s), highest expression level in pancreas
CleanExiHS_ZFYVE1
ExpressionAtlasiQ9HBF4 baseline and differential
GenevisibleiQ9HBF4 HS

Family and domain databases

Gene3Di3.30.40.10, 2 hits
InterProiView protein in InterPro
IPR027417 P-loop_NTPase
IPR000306 Znf_FYVE
IPR017455 Znf_FYVE-rel
IPR011011 Znf_FYVE_PHD
IPR013083 Znf_RING/FYVE/PHD
PfamiView protein in Pfam
PF01363 FYVE, 2 hits
SMARTiView protein in SMART
SM00064 FYVE, 2 hits
SUPFAMiSSF52540 SSF52540, 1 hit
SSF57903 SSF57903, 2 hits
PROSITEiView protein in PROSITE
PS50178 ZF_FYVE, 2 hits
ProtoNetiSearch...

Entry informationi

Entry nameiZFYV1_HUMAN
AccessioniPrimary (citable) accession number: Q9HBF4
Secondary accession number(s): J3KNL9
, Q8WYX7, Q96K57, Q9BXP9, Q9HCI3
Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 15, 2003
Last sequence update: March 1, 2001
Last modified: November 7, 2018
This is version 150 of the entry and version 1 of the sequence. See complete history.
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  2. Human chromosome 14
    Human chromosome 14: entries, gene names and cross-references to MIM
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