• Gene id: 10160

Gene Summary

• Gene Symbol: FARP1   Gene   UCSC   Ensembl
• Aliases: CDEP, FARP1-IT1, PLEKHC2, PPP1R75
• Gene name: FERM, ARH/RhoGEF and pleckstrin domain protein 1
• Alternate names: FERM, ARHGEF and pleckstrin domain-containing protein 1, FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived), FERM, RhoGEF and pleckstrin domain-containing protein 1, PH domain-containing family C member 2, chondrocyte-derived ezrin-li,
• Gene location: 13q32.2 (98142588: 98455175)     Exons: 20     NC_000013.11
• Gene summary(Entrez): This gene encodes a protein containing a FERM (4.2, exrin, radixin, moesin) domain, a Dbl homology domain, and two pleckstrin homology domains. These domains are found in guanine nucleotide exchange factors and proteins that link the cytoskeleton to the c
• OMIM: 602654

Protein Summary

• Protein general information: Q9Y4F1  
  • Name: FERM, ARHGEF and pleckstrin domain containing protein 1 (Chondrocyte derived ezrin like protein) (FERM, RhoGEF and pleckstrin domain containing protein 1) (Pleckstrin homology domain containing family C member 2) (PH domain containing family C member 2)
  • Length: 1045  
  • Mass: 118633
  • Tissue specificity: Detected in cAMP-treated chondrocytes, but not in untreated chondrocytes. Detected in fetal brain, heart and spleen, and in adult testis, kidney and lung. {ECO
• Sequence:

  MGEIEQRPTPGSRLGAPENSGISTLERGQKPPPTPSGKLVSIKIQMLDDTQEAFEVPQRAPGKVLLDAVCNHLNL
  VEGDYFGLEFPDHKKITVWLDLLKPIVKQIRRPKHVVVKFVVKFFPPDHTQLQEELTRYLFALQVKQDLAQGRLT
  CNDTSAALLISHIVQSEIGDFDEALDREHLAKNKYIPQQDALEDKIVEFHHNHIGQTPAESDFQLLEIARRLEMY
  GIRLHPAKDREGTKINLAVANTGILVFQGFTKINAFNWAKVRKLSFKRKRFLIKLRPDANSAYQDTLEFLMASRD
  FCKSFWKICVEHHAFFRLFEEPKPKPKPVLFSRGSSFRFSGRTQKQVLDYVKEGGHKKVQFERKHSKIHSIRSLA
  SQPTELNSEVLEQSQQSTSLTFGEGAESPGGQSCRRGKEPKVSAGEPGSHPSPAPRRSPAGNKQADGAASAPTEE
  EEEVVKDRTQQSKPQPPQPSTGSLTGSPHLSELSVNSQGGVAPANVTLSPNLSPDTKQASPLISPLLNDQACPRT
  DDEDEGRRKRFPTDKAYFIAKEVSTTERTYLKDLEVITSWFQSTVSKEDAMPEALKSLIFPNFEPLHKFHTNFLK
  EIEQRLALWEGRSNAQIRDYQRIGDVMLKNIQGMKHLAAHLWKHSEALEALENGIKSSRRLENFCRDFELQKVCY
  LPLNTFLLRPLHRLMHYKQVLERLCKHHPPSHADFRDCRAALAEITEMVAQLHGTMIKMENFQKLHELKKDLIGI
  DNLVVPGREFIRLGSLSKLSGKGLQQRMFFLFNDVLLYTSRGLTASNQFKVHGQLPLYGMTIEESEDEWGVPHCL
  TLRGQRQSIIVAASSRSEMEKWVEDIQMAIDLAEKSSSPAPEFLASSPPDNKSPDEATAADQESEDDLSASRTSL
  ERQAPHRGNTMVHVCWHRNTSVSMVDFSIAVENQLSGNLLRKFKNSNGWQKLWVVFTNFCLFFYKSHQDNHPLAS
  LPLLGYSLTIPSESENIQKDYVFKLHFKSHVYYFRAESEYTFERWMEVIRSATSSASRPHVLSHKESLVY

• Structural information:
  • Protein Domains: (40..32-)
    (/note="FERM-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00084-)
    (540..73-)
    (/note="DH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00062-)
    (759..85-)
    (/note="PH-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00145-)
    (93-)
  • Interpro: IPR019749  IPR035899  IPR000219  IPR000798  IPR041788   IPR014847  IPR014352  IPR035963  IPR019748  IPR019747  IPR000299  IPR018979  IPR018980  IPR011993  IPR001849  IPR029071  
  • Prosite: PS50010 PS00660 PS50057 PS50003
  • CDD: cd14473 cd13193 cd00160
  • PDB: 4H6Y
  • PDBsum: 4H6Y
  • STRING: ENSP00000471242
• Other Databases: GeneCards:  FARP1  Malacards:  FARP1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030676	Rac guanyl-nucleotide exchange factor activity	IBA	molecular function
GO:0010923	negative regulation of phosphatase activity	IDA	biological process
GO:0048813	dendrite morphogenesis	ISS	biological process
GO:0030676	Rac guanyl-nucleotide exchange factor activity	ISS	molecular function
GO:0030425	dendrite	ISS	cellular component
GO:0005829	cytosol	ISS	cellular component
GO:0031234	extrinsic component of cytoplasmic side of plasma membrane	ISS	cellular component
GO:0007416	synapse assembly	ISS	biological process
GO:0008092	cytoskeletal protein binding	IEA	molecular function
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0005856	cytoskeleton	IEA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0043005	neuron projection	IEA	cellular component
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0007275	multicellular organism development	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005089	Rho guanyl-nucleotide exchange factor activity	TAS	molecular function
GO:0005856	cytoskeleton	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0030425	dendrite	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0030175	filopodium	IEA	cellular component
GO:0043005	neuron projection	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0043197	dendritic spine	IEA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R