Gene Gene information from NCBI Gene database.
Entrez ID 10160
Gene name FERM, ARH/RhoGEF and pleckstrin domain protein 1
Gene symbol FARP1
Synonyms (NCBI Gene)
CDEPFARP1-IT1GLCC1PLEKHC2PPP1R75
Chromosome 13
Chromosome location 13q32.2
Summary 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
miRNA miRNA information provided by mirtarbase database.
279
miRTarBase ID miRNA Experiments Reference
MIRT005052 hsa-let-7b-5p Microarray 17699775
MIRT005826 hsa-miR-204-5p Microarray 21282569
MIRT023200 hsa-miR-124-3p Microarray 18668037
MIRT030304 hsa-miR-26b-5p Microarray 19088304
MIRT053628 hsa-let-7f-5p Microarray 22942087
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
35
GO ID Ontology Definition Evidence Reference
GO:0005085 Function Guanyl-nucleotide exchange factor activity IBA
GO:0005085 Function Guanyl-nucleotide exchange factor activity IEA
GO:0005085 Function Guanyl-nucleotide exchange factor activity ISS
GO:0005085 Function Guanyl-nucleotide exchange factor activity TAS 9425278
GO:0005515 Function Protein binding IPI 32296183
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602654 3591 ENSG00000152767
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9Y4F1
Protein 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)
Protein function Functions as a guanine nucleotide exchange factor for RAC1. May play a role in semaphorin signaling. Plays a role in the assembly and disassembly of dendritic filopodia, the formation of dendritic spines, regulation of dendrite length and ultima
PDB 4H6Y
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF09379 FERM_N 44 107 FERM N-terminal domain Domain
PF00373 FERM_M 123 230 FERM central domain Domain
PF09380 FERM_C 234 324 FERM C-terminal PH-like domain Domain
PF08736 FA 329 372 FERM adjacent (FA) Family
PF00621 RhoGEF 544 728 RhoGEF domain Domain
PF00169 PH 760 856 PH domain Domain
PF00169 PH 933 1029 PH domain Domain
Tissue specificity 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:0000269|PubMed:9425278}.
Sequence
MGEIEQRPTPGSRLGAPENSGISTLERGQKPPPTPSGKLVSIKIQMLDDTQEAFEVPQRA
PGKVLLDAVCNHLNLVEGDYFGLEFPDHKKITVWLDLLKPIVKQIRR
PKHVVVKFVVKFF
PPDHTQLQEELTRYLFALQVKQDLAQGRLTCNDTSAALLISHIVQSEIGDFDEALDREHL
AKNKYIPQQDALEDKIVEFHHNHIGQTPAESDFQLLEIARRLEMYGIRLH
PAKDREGTKI
NLAVANTGILVFQGFTKINAFNWAKVRKLSFKRKRFLIKLRPDANSAYQDTLEFLMASRD
FCKSFWKICVEHHAFFRLFEEPKP
KPKPVLFSRGSSFRFSGRTQKQVLDYVKEGGHKKVQ
FERKHSKIHSIR
SLASQPTELNSEVLEQSQQSTSLTFGEGAESPGGQSCRRGKEPKVSAG
EPGSHPSPAPRRSPAGNKQADGAASAPTEEEEEVVKDRTQQSKPQPPQPSTGSLTGSPHL
SELSVNSQGGVAPANVTLSPNLSPDTKQASPLISPLLNDQACPRTDDEDEGRRKRFPTDK
AYFIAKEVSTTERTYLKDLEVITSWFQSTVSKEDAMPEALKSLIFPNFEPLHKFHTNFLK
EIEQRLALWEGRSNAQIRDYQRIGDVMLKNIQGMKHLAAHLWKHSEALEALENGIKSSRR
LENFCRDFELQKVCYLPLNTFLLRPLHRLMHYKQVLERLCKHHPPSHADFRDCRAALAEI
TEMVAQLH
GTMIKMENFQKLHELKKDLIGIDNLVVPGREFIRLGSLSKLSGKGLQQRMFF
LFNDVLLYTSRGLTASNQFKVHGQLPLYGMTIEESEDEWGVPHCLTLRGQRQSIIVAASS
RSEMEKWVEDIQMAID
LAEKSSSPAPEFLASSPPDNKSPDEATAADQESEDDLSASRTSL
ERQAPHRGNTMVHVCWHRNTSVSMVDFSIAVENQLSGNLLRKFKNSNGWQKLWVVFTNFC
LFFYKSHQDNHPLASLPLLGYSLTIPSESENIQKDYVFKLHFKSHVYYFRAESEYTFERW
MEVIRSATS
SASRPHVLSHKESLVY
Sequence length 1045
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
55
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Adrenocortical carcinoma, hereditary Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANXIETY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BELL'S PALSY GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adrenal Gland Pheochromocytoma Adrenal Gland Pheochromocytoma BEFREE 26911374
★☆☆☆☆
Found in Text Mining only
Alzheimer`s Disease Alzheimer disease GWASCAT_DG 26830138
★☆☆☆☆
Found in Text Mining only
Autistic Disorder Autism Pubtator 32588496 Associate
★☆☆☆☆
Found in Text Mining only
Cerebrovascular accident Stroke BEFREE 25586835
★☆☆☆☆
Found in Text Mining only
Cutaneous Melanoma Melanoma BEFREE 31021836
★☆☆☆☆
Found in Text Mining only
Lung Neoplasms Lung neoplasms Pubtator 34731623 Associate
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of breast Breast Cancer UNIPROT_DG
★☆☆☆☆
Found in Text Mining only
Malignant Neoplasms Malignant Neoplasm BEFREE 31021836
★☆☆☆☆
Found in Text Mining only
melanoma Melanoma BEFREE 31021836
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Pheochromocytoma Pheochromocytoma BEFREE 26911374
★☆☆☆☆
Found in Text Mining only