• Gene id: 53349

Gene Summary

• Gene Symbol: ZFYVE1   Gene   UCSC   Ensembl
• Aliases: DFCP1, PPP1R172, SR3, TAFF1, ZNFN2A1
• Gene name: zinc finger FYVE-type containing 1
• Alternate names: zinc finger FYVE domain-containing protein 1, double FYVE-containing protein 1, phosphoinositide-binding protein SR3, protein phosphatase 1, regulatory subunit 172, tandem FYVE fingers-1 protein, zinc finger protein, subfamily 2A, member 1, zinc finger, FYVE do,
• Gene location: 14q24.2 (109076002: 109064139)     Exons: 4     NC_000001.11
• Gene summary(Entrez): The FYVE domain mediates the recruitment of proteins involved in membrane trafficking and cell signaling to phosphatidylinositol 3-phosphate-containing membranes. This protein contains two zinc-binding FYVE domains in tandem and is reported to localize to
• OMIM: 605471

Protein Summary

• Protein general information: Q9HBF4  
  • Name: Zinc finger FYVE domain containing protein 1 (Double FYVE containing protein 1) (SR3) (Tandem FYVE fingers 1)
  • Length: 777  
  • Mass: 87176
  • Tissue specificity: 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.
• Sequence:

  MSAQTSPAEKGLNPGLMCQESYACSGTDEAIFECDECCSLQCLRCEEELHRQERLRNHERIRLKPGHVPYCDLCK
  GLSGHLPGVRQRAIVRCQTCKINLCLECQKRTHSGGNKRRHPVTVYNVSNLQESLEAEEMDEETKRKKMTEKVVS
  FLLVDENEEIQVTNEEDFIRKLDCKPDQHLKVVSIFGNTGDGKSHTLNHTFFYGREVFKTSPTQESCTVGVWAAY
  DPVHKVAVIDTEGLLGATVNLSQRTRLLLKVLAISDLVIYRTHADRLHNDLFKFLGDASEAYLKHFTKELKATTA
  RCGLDVPLSTLGPAVIIFHETVHTQLLGSDHPSEVPEKLIQDRFRKLGRFPEAFSSIHYKGTRTYNPPTDFSGLR
  RALEQLLENNTTRSPRHPGVIFKALKALSDRFSGEIPDDQMAHSSFFPDEYFTCSSLCLSCGVGCKKSMNHGKEG
  VPHEAKSRCRYSHQYDNRVYTCKACYERGEEVSVVPKTSASTDSPWMGLAKYAWSGYVIECPNCGVVYRSRQYWF
  GNQDPVDTVVRTEIVHVWPGTDGFLKDNNNAAQRLLDGMNFMAQSVSELSLGPTKAVTSWLTDQIAPAYWRPNSQ
  ILSCNKCATSFKDNDTKHHCRACGEGFCDSCSSKTRPVPERGWGPAPVRVCDNCYEARNVQLAVTEAQVDDEGGT
  LIARKVGEAVQNTLGAVVTAIDIPLGLVKDAARPAYWVPDHEILHCHNCRKEFSIKLSKHHCRACGQGFCDECSH
  DRRAVPSRGWDHPVRVCFNCNKKPGDL

• Structural information:
  • Interpro: IPR027417  IPR042427  IPR000306  IPR017455  IPR011011   IPR013083  
  • Prosite: PS50178
  • STRING: ENSP00000450742
• Other Databases: GeneCards:  ZFYVE1  Malacards:  ZFYVE1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0009267	cellular response to starvation	IDA	biological process
GO:0016020	membrane	IDA	colocalizes with
GO:0016236	macroautophagy	IDA	biological process
GO:0097629	extrinsic component of omegasome membrane	IDA	cellular component
GO:0005811	lipid droplet	IDA	cellular component
GO:0005789	endoplasmic reticulum membrane	IDA	cellular component
GO:0005811	lipid droplet	IDA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:1990462	omegasome	IDA	cellular component
GO:0032266	phosphatidylinositol-3-phosphate binding	IDA	molecular function
GO:1990462	omegasome	IDA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0010923	negative regulation of phosphatase activity	IDA	biological process
GO:0140042	lipid droplet formation	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0005811	lipid droplet	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0000407	phagophore assembly site	IDA	cellular component
GO:1990462	omegasome	IDA	cellular component
GO:0044233	mitochondria-associated endoplasmic reticulum membrane	IDA	cellular component
GO:0005776	autophagosome	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005811	lipid droplet	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0140042	lipid droplet formation	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0005811	lipid droplet	IEA	cellular component
GO:0000407	phagophore assembly site	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005795	Golgi stack	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0048471	perinuclear region of cytoplasm	IDA	cellular component
GO:0005545	1-phosphatidylinositol binding	IDA	molecular function
GO:0005795	Golgi stack	IDA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0043325	phosphatidylinositol-3,4-bisphosphate binding	IDA	molecular function
GO:0005547	phosphatidylinositol-3,4,5-trisphosphate binding	IDA	molecular function
GO:0008270	zinc ion binding	NAS	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04140	Autophagy - animal

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq