• Gene id: 221692

Gene Summary

• Gene Symbol: PHACTR1   Gene   UCSC   Ensembl
• Aliases: EIEE70, RPEL, RPEL1, dJ257A7.2
• Gene name: phosphatase and actin regulator 1
• Alternate names: phosphatase and actin regulator 1, RPEL repeat containing 1,
• Gene location: 6p24.1 (12716634: 13290461)     Exons: 22     NC_000006.12
• Gene summary(Entrez): The protein encoded by this gene is a member of the phosphatase and actin regulator family of proteins. This family member can bind actin and regulate the reorganization of the actin cytoskeleton. It plays a role in tubule formation and in endothelial cel
• OMIM: 608723

Protein Summary

• Protein general information: Q9C0D0  
  • Name: Phosphatase and actin regulator 1
  • Length: 580  
  • Mass: 66308
  • Tissue specificity: Detected in umbilical vein endothelial cells. {ECO
• Sequence:

  MDYPKMDYFLDVESAHRLLDVESAQRFFYSQGAQARRATLLLPPTLMAASSEDDIDRRPIRRVRSKSDTPYLAEA
  RISFNLGAAEEVERLAAMRSDSLVPGTHTPPIRRRSKFANLGRIFKPWKWRKKKSEKFKHTSAALERKISMRQSR
  EELIKRGVLKEIYDKDGELSISNEEDSLENGQSLSSSQLSLPALSEMEPVPMPRDPCSYEVLQPSDIMDGPDPGA
  PVKLPCLPVKLSPPLPPKKVMICMPVGGPDLSLVSYTAQKSGQQGVAQHHHTVLPSQIQHQLQYGSHGQHLPSTT
  GSLPMHPSGCRMIDELNKTLAMTMQRLESSEQRVPCSTSYHSSGLHSGDGVTKAGPMGLPEIRQVPTVVIECDDN
  KENVPHESDYEDSSCLYTREEEEEEEDEDDDSSLYTSSLAMKVCRKDSLAIKLSNRPSKRELEEKNILPRQTDEE
  RLELRQQIGTKLTRRLSQRPTAEELEQRNILKPRNEQEEQEEKREIKRRLTRKLSQRPTVEELRERKILIRFSDY
  VEVADAQDYDRRADKPWTRLTAADKAAIRKELNEFKSTEMEVHELSRHLTRFHRP

• Structural information:
  • Interpro: IPR029987  IPR004018  
  • Prosite: PS51073
  • STRING: ENSP00000329880
• Other Databases: GeneCards:  PHACTR1  Malacards:  PHACTR1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0048870	cell motility	IBA	biological process
GO:0030036	actin cytoskeleton organization	IBA	biological process
GO:0003779	actin binding	IBA	molecular function
GO:0043149	stress fiber assembly	IBA	biological process
GO:0048870	cell motility	IMP	biological process
GO:0031032	actomyosin structure organization	IMP	biological process
GO:0005829	cytosol	ISS	cellular component
GO:0003779	actin binding	ISS	molecular function
GO:2001222	regulation of neuron migration	ISS	biological process
GO:0140059	dendrite arborization	ISS	biological process
GO:0021987	cerebral cortex development	ISS	biological process
GO:0043149	stress fiber assembly	IMP	biological process
GO:0031532	actin cytoskeleton reorganization	ISS	biological process
GO:0005634	nucleus	ISS	cellular component
GO:0003779	actin binding	IEA	molecular function
GO:0008157	protein phosphatase 1 binding	IEA	molecular function
GO:0019888	protein phosphatase regulator activity	IEA	molecular function
GO:0031532	actin cytoskeleton reorganization	IEA	biological process
GO:0030054	cell junction	IEA	cellular component
GO:0003779	actin binding	IEA	molecular function
GO:0004864	protein phosphatase inhibitor activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0003779	actin binding	IEA	molecular function
GO:0005829	cytosol	IEA	cellular component
GO:0031032	actomyosin structure organization	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0021987	cerebral cortex development	IEA	biological process
GO:0031532	actin cytoskeleton reorganization	IEA	biological process
GO:0043149	stress fiber assembly	IEA	biological process
GO:0140059	dendrite arborization	IEA	biological process
GO:2001222	regulation of neuron migration	IEA	biological process
GO:0045202	synapse	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0043666	regulation of phosphoprotein phosphatase activity	IEA	biological process
GO:0032515	negative regulation of phosphoprotein phosphatase activity	IEA	biological process

Diseases

Associated diseases	References
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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq