• Gene id: 9765

Gene Summary

• Gene Symbol: ZFYVE16   Gene   UCSC   Ensembl
• Aliases: PPP1R69
• Gene name: zinc finger FYVE-type containing 16
• Alternate names: zinc finger FYVE domain-containing protein 16, endosome-associated FYVE-domain protein, protein phosphatase 1, regulatory subunit 69, zinc finger, FYVE domain containing 16,
• Gene location: 5q14.1 (80407614: 80483378)     Exons: 24     NC_000005.10
• Gene summary(Entrez): This gene encodes an endosomal protein that belongs to the FYVE zinc finger family of proteins. The encoded protein is thought to regulate membrane trafficking in the endosome. This protein functions as a scaffold protein in the transforming growth factor
• OMIM: 608880

Protein Summary

• Protein general information: Q7Z3T8  
  • Name: Zinc finger FYVE domain containing protein 16 (Endofin) (Endosome associated FYVE domain protein)
  • Length: 1539  
  • Mass: 168903
  • Tissue specificity: Widely expressed. Highly expressed in kidney, placenta and lung. Expressed at intermediate level in heart, brain, skeletal muscle, spleen and liver. Weakly expressed in colon, thymus and peripheral blood lymphocytes. {ECO
• Sequence:

  MDSYFKAAVSDLDKLLDDFEQNPDEQDYLQDVQNAYDSNHCSVSSELASSQRTSLLPKDQECVNSCASSETSYGT
  NESSLNEKTLKGLTSIQNEKNVTGLDLLSSVDGGTSDEIQPLYMGRCSKPICDLISDMGNLVHATNSEEDIKKLL
  PDDFKSNADSLIGLDLSSVSDTPCVSSTDHDSDTVREQQNDISSELQNREIGGIKELGIKVDTTLSDSYNYSGTE
  NLKDKKIFNQLESIVDFNMSSALTRQSSKMFHAKDKLQHKSQPCGLLKDVGLVKEEVDVAVITAAECLKEEGKTS
  ALTCSLPKNEDLCLNDSNSRDENFKLPDFSFQEDKTVIKQSAQEDSKSLDLKDNDVIQDSSSALHVSSKDVPSSL
  SCLPASGSMCGSLIESKARGDFLPQHEHKDNIQDAVTIHEEIQNSVVLGGEPFKENDLLKQEKCKSILLQSLIEG
  MEDRKIDPDQTVIRAESLDGGDTSSTVVESQEGLSGTHVPESSDCCEGFINTFSSNDMDGQDLDYFNIDEGAKSG
  PLISDAELDAFLTEQYLQTTNIKSFEENVNDSKSQMNQIDMKGLDDGNINNIYFNAEAGAIGESHGINIICEIVD
  KQNTIENGLSLGEKSTIPVQQGLPTSKSEITNQLSVSDINSQSVGGARPKQLFSLPSRTRSSKDLNKPDVPDTIE
  SEPSTADTVVPITCAIDSTADPQVSFNSNYIDIESNSEGGSSFVTANEDSVPENTCKEGLVLGQKQPTWVPDSEA
  PNCMNCQVKFTFTKRRHHCRACGKVFCGVCCNRKCKLQYLEKEARVCVVCYETISKAQAFERMMSPTGSNLKSNH
  SDECTTVQPPQENQTSSIPSPATLPVSALKQPGVEGLCSKEQKRVWFADGILPNGEVADTTKLSSGSKRCSEDFS
  PLSPDVPMTVNTVDHSHSTTVEKPNNETGDITRNEIIQSPISQVPSVEKLSMNTGNEGLPTSGSFTLDDDVFAET
  EEPSSPTGVLVNSNLPIASISDYRLLCDINKYVCNKISLLPNDEDSLPPLLVASGEKGSVPVVEEHPSHEQIILL
  LEGESFHPVTFVLNANLLVNVKFIFYSSDKYWYFSTNGLHGLGQAEIIILLLCLPNEDTIPKDIFRLFITIYKDA
  LKGKYIENLDNITFTESFLSSKDHGGFLFITPTFQKLDDLSLPSNPFLCGILIQKLEIPWAKVFPMRLMLRLGAE
  YKAYPAPLTSIRGRKPLFGEIGHTIMNLLVDLRNYQYTLHNIDQLLIHMEMGKSCIKIPRKKYSDVMKVLNSSNE
  HVISIGASFSTEADSHLVCIQNDGIYETQANSATGHPRKVTGASFVVFNGALKTSSGFLAKSSIVEDGLMVQITP
  ETMNGLRLALREQKDFKITCGKVDAVDLREYVDICWVDAEEKGNKGVISSVDGISLQGFPSEKIKLEADFETDEK
  IVKCTEVFYFLKDQDLSILSTSYQFAKEIAMACSAALCPHLKTLKSNGMNKIGLRVSIDTDMVEFQAGSEGQLLP
  QHYLNDLDSALIPVIHGGTSNSSLPLEIELVFFIIEHLF

• Structural information:
  • Interpro: IPR022557  IPR035438  IPR000306  IPR017455  IPR017165   IPR011011  IPR013083  
  • Prosite: PS50178
  • PDB: 3T7L 5MK0
  • PDBsum: 3T7L 5MK0
  • STRING: ENSP00000337159
• Other Databases: GeneCards:  ZFYVE16  Malacards:  ZFYVE16

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0031901	early endosome membrane	IBA	cellular component
GO:0016197	endosomal transport	IBA	biological process
GO:0006622	protein targeting to lysosome	IBA	biological process
GO:0005769	early endosome	IBA	cellular component
GO:0005547	phosphatidylinositol-3,4,5-trisphosphate binding	IDA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0005768	endosome	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0030509	BMP signaling pathway	TAS	biological process
GO:0031901	early endosome membrane	TAS	cellular component
GO:0031901	early endosome membrane	TAS	cellular component
GO:0031901	early endosome membrane	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0031901	early endosome membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005545	1-phosphatidylinositol binding	IDA	molecular function
GO:0005769	early endosome	IDA	cellular component
GO:0006622	protein targeting to lysosome	IMP	biological process
GO:0030100	regulation of endocytosis	TAS	biological process
GO:0016197	endosomal transport	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0016050	vesicle organization	NAS	biological process
GO:0007165	signal transduction	NAS	biological process

KEGG pathways

Pathway id	Pathway name
hsa04144	Endocytosis
hsa04350	TGF-beta signaling pathway

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)