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

Gene ID: 10160, updated on 7-Apr-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
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Genomic context

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Location:
13q32.2
Exon count:
30
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (98142589..98455176)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (97349662..97662977)
105.20220307 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
  • 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. 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
  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. 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
  4. 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
  5. FARP1, ARHGEF39, and TIAM2 are essential receptor tyrosine kinase effectors for Rac1-dependent cell motility in human lung adenocarcinoma. Cooke M, et al. Cell Rep, 2021 Nov 2. PMID 34731623, Free PMC Article

See all (68) 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 variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

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_2023_10

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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