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    FARP1 FERM, ARH/RhoGEF and pleckstrin domain protein 1 [ Homo sapiens (human) ]

    Gene ID: 10160, updated on 2-Nov-2024

    Summary

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    Official Symbol
    FARP1provided by HGNC
    Official Full Name
    FERM, ARH/RhoGEF and pleckstrin domain protein 1provided by HGNC
    Primary source
    HGNC:HGNC:3591
    See related
    Ensembl:ENSG00000152767 MIM:602654; AllianceGenome:HGNC:3591
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CDEP; GLCC1; PLEKHC2; PPP1R75; FARP1-IT1
    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 cell membrane. The encoded protein functions in neurons to promote dendritic growth. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2013]
    Expression
    Ubiquitous expression in kidney (RPKM 19.9), thyroid (RPKM 13.0) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    13q32.2
    Exon count:
    30
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (98142589..98455176)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (97349662..97662977)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (98794843..99107430)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene importin 5 Neighboring gene ferritin light chain pseudogene 8 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:98713754-98714350 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:98716143-98716738 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:98716739-98717336 Neighboring gene uncharacterized LOC105370328 Neighboring gene uncharacterized LOC107984566 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5455 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5456 Neighboring gene Sharpr-MPRA regulatory region 2492 Neighboring gene Sharpr-MPRA regulatory region 10209 Neighboring gene ring finger protein 113B Neighboring gene RN7SK pseudogene 8 Neighboring gene microRNA 3170 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7898 Neighboring gene H3K27ac hESC enhancer GRCh37_chr13:98937815-98938316 Neighboring gene Sharpr-MPRA regulatory region 11603 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:98968007-98968649 Neighboring gene uncharacterized LOC105370327 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7899 Neighboring gene Sharpr-MPRA regulatory region 8978 Neighboring gene Sharpr-MPRA regulatory region 11628 Neighboring gene FARP1 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:99115971-99116472 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr13:99128412-99129611 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7904 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:99133110-99133610 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7905 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:99136594-99137285 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7908 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:99148205-99149039 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7909 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7910 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7911 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:99158181-99158780 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:99158781-99159380 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:99159381-99159980 Neighboring gene serine/threonine kinase 24 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7912 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7913 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:99172581-99173082 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7914 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7915 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7916 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7917 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:99188643-99189506 Neighboring gene Sharpr-MPRA regulatory region 8410 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:99220135-99220636 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr13:99222661-99223860 Neighboring gene Sharpr-MPRA regulatory region 9599 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5457 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5458 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5459 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5460 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7919 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7920 Neighboring gene STK24 antisense RNA 1 Neighboring gene NUS1 pseudogene 4

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Molecular cloning and characterization of CDEP, a novel human protein containing the ezrin-like domain of the band 4.1 superfamily and the Dbl homology domain of Rho guanine nucleotide exchange factors. Koyano Y, et al. Biochem Biophys Res Commun, 1997 Dec 18. PMID 9425278
    2. FARP1 Facilitates Cell Proliferation Through Modulating MAPK Signaling Pathway in Cutaneous Melanoma. Chen ZH, et al. Am J Dermatopathol, 2019 Dec. PMID 31021836
    3. circFARP1 enables cancer-associated fibroblasts to promote gemcitabine resistance in pancreatic cancer via the LIF/STAT3 axis. Hu C, et al. Mol Cancer, 2022 Jan 19. PMID 35045883, Free PMC Article
    4. FARP1 promotes the dendritic growth of spinal motor neuron subtypes through transmembrane Semaphorin6A and PlexinA4 signaling. Zhuang B, et al. Neuron, 2009 Feb 12. PMID 19217374, Free PMC Article
    5. Non-replication of association for six polymorphisms from meta-analysis of genome-wide association studies of Parkinson's disease: large-scale collaborative study. Evangelou E, et al. Am J Med Genet B Neuropsychiatr Genet, 2010 Jan 5. PMID 19475631, Free PMC Article

    See all (75) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. circFARP1 enables cancer-associated fibroblasts to promote gemcitabine resistance in pancreatic cancer via the LIF/STAT3 axis.
      Title: circFARP1 enables cancer-associated fibroblasts to promote gemcitabine resistance in pancreatic cancer via the LIF/STAT3 axis.
    2. FARP1, ARHGEF39, and TIAM2 are essential receptor tyrosine kinase effectors for Rac1-dependent cell motility in human lung adenocarcinoma.
      Title: FARP1, ARHGEF39, and TIAM2 are essential receptor tyrosine kinase effectors for Rac1-dependent cell motility in human lung adenocarcinoma.
    3. FARP1 facilitates malignant melanoma cell proliferation and migration by modulating the MAPK signaling pathway.
      Title: FARP1 Facilitates Cell Proliferation Through Modulating MAPK Signaling Pathway in Cutaneous Melanoma.
    4. We have reported here for the first time a reduced activity of both Rac1 and Cdc42 in human pheochromocytoma resection as well as tumor-associated expression changes of FARP1, ARHGEF1, and ARHGAP36
      Title: Cdc42 and Rac1 activity is reduced in human pheochromocytoma and correlates with FARP1 and ARHGEF1 expression.
    5. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    6. Meta-analysis of gene-disease association. (HuGE Navigator)
      Title: Non-replication of association for six polymorphisms from meta-analysis of genome-wide association studies of Parkinson's disease: large-scale collaborative study.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles.
    EBI GWAS Catalog
    Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.
    EBI GWAS Catalog
    Genome-wide association study identifies variants associated with histologic features of nonalcoholic Fatty liver disease.
    EBI GWAS Catalog
    Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13).
    EBI GWAS Catalog
    Genome-wide association with MRI atrophy measures as a quantitative trait locus for Alzheimer's disease.
    EBI GWAS Catalog
    Genome-wide meta-analysis identifies new susceptibility loci for migraine.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog
    Voxelwise genome-wide association study (vGWAS).
    EBI GWAS Catalog

    Variation

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    See Variation Viewer (GRCh37.p13)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC87400

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cytoskeletal protein binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables guanyl-nucleotide exchange factor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables guanyl-nucleotide exchange factor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables small GTPase binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in Rac protein signal transduction IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in dendrite morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in enzyme-linked receptor protein signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of skeletal muscle acetylcholine-gated channel clustering IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in postsynaptic actin cytoskeleton organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of presynapse assembly IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in retrograde trans-synaptic signaling by trans-synaptic protein complex IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in synapse assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasmic side of plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytosol ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in dendrite ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in dendritic spine IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in extrinsic component of postsynaptic membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in filopodium IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in glutamatergic synapse IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    FERM, ARHGEF and pleckstrin domain-containing protein 1
    Names
    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-like protein
    glycolysis-associated lncRNA of colorectal cancer
    pleckstrin homology domain-containing family C member 2
    protein phosphatase 1, regulatory subunit 75

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001001715.4 → NP_001001715.2  FERM, ARHGEF and pleckstrin domain-containing protein 1 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks multiple 3' coding exons and contains an alternate 3' terminal exon, which results in a distinct 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (2) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      AL136300, AL445223, BM763139, BQ014327, CF994038, DB498534
      Consensus CDS
      CCDS32000.1
      UniProtKB/Swiss-Prot
      Q9Y4F1
      Related
      ENSP00000365765.4, ENST00000376581.9

    2. NM_001286839.2 → NP_001273768.1  FERM, ARHGEF and pleckstrin domain-containing protein 1 isoform 3

      See identical proteins and their annotated locations for NP_001273768.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and contains an alternate in-frame exon in the 3' coding region, compared to variant 1. The encoded isoform (3) is longer than isoform 1.
      Source sequence(s)
      AL136300, AL137249, AW514534, BC053593, BC071592
      Consensus CDS
      CCDS66572.1
      UniProtKB/TrEMBL
      C9JME2
      Related
      ENSP00000471242.1, ENST00000595437.5
      Conserved Domains (9) summary
      smart00295
      Location:42 → 230
      B41; Band 4.1 homologues
      cd00160
      Location:542 → 728
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
      cd01220
      Location:789 → 892
      PH1_FARP1-like; FERM, RhoGEF and pleckstrin domain-containing protein 1 and related proteins Pleckstrin Homology (PH) domain, repeat 1
      cd13193
      Location:217 → 337
      FERM_C_FARP1-like; FERM domain C-lobe of FERM, RhoGEF and pleckstrin domain-containing protein 1 and related proteins
      cd13235
      Location:962 → 1059
      PH2_FARP1-like; FERM, RhoGEF and pleckstrin domain-containing protein 1 and related proteins Pleckstrin Homology (PH) domain, repeat 2
      pfam00169
      Location:967 → 1060
      PH; PH domain
      pfam00373
      Location:127 → 230
      FERM_M; FERM central domain
      pfam08736
      Location:329 → 370
      FA; FERM adjacent (FA)
      pfam09379
      Location:44 → 107
      FERM_N; FERM N-terminal domain

    3. NM_005766.4 → NP_005757.1  FERM, ARHGEF and pleckstrin domain-containing protein 1 isoform 1

      See identical proteins and their annotated locations for NP_005757.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes isoform 1.
      Source sequence(s)
      AB008430, AL136300, AL137249, AW514534, BC053593, BC071592, CF994038, DB498534
      Consensus CDS
      CCDS9487.1
      UniProtKB/Swiss-Prot
      Q5JVI9, Q6IQ29, Q9Y4F1
      UniProtKB/TrEMBL
      A0A2X0TVY0
      Related
      ENSP00000322926.6, ENST00000319562.11
      Conserved Domains (6) summary
      smart00295
      Location:42 → 230
      B41; Band 4.1 homologues
      cd00160
      Location:542 → 728
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
      cd01220
      Location:753 → 861
      PH1_FARP1-like; FERM, RhoGEF and pleckstrin domain-containing protein 1 and related proteins Pleckstrin Homology (PH) domain, repeat 1
      cd13193
      Location:217 → 337
      FERM_C_FARP1-like; FERM domain C-lobe of FERM, RhoGEF and pleckstrin domain-containing protein 1 and related proteins
      cd13235
      Location:931 → 1028
      PH2_FARP1-like; FERM, RhoGEF and pleckstrin domain-containing protein 1 and related proteins Pleckstrin Homology (PH) domain, repeat 2
      pfam08736
      Location:329 → 370
      FA; FERM adjacent (FA)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000013.11 Reference GRCh38.p14 Primary Assembly

      Range
      98142589..98455176
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060937.1 Alternate T2T-CHM13v2.0

      Range
      97349662..97662977
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y4F1.1 GenPept UniProtKB/Swiss-Prot:Q9Y4F1

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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