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

Gene ID: 10160, updated on 13-Feb-2019

Summary

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
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; 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

Genomic context

See FARP1 in Genome Data Viewer
Location:
13q32.2
Exon count:
31
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 13 NC_000013.11 (98142562..98449773)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (98794893..99102023)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene importin 5 Neighboring gene ferritin light chain pseudogene 8 Neighboring gene uncharacterized LOC105370328 Neighboring gene uncharacterized LOC107984566 Neighboring gene ring finger protein 113B Neighboring gene RN7SK pseudogene 8 Neighboring gene microRNA 3170 Neighboring gene uncharacterized LOC105370327 Neighboring gene serine/threonine kinase 24 Neighboring gene STK24 antisense RNA 1

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC87400

Gene Ontology Provided by GOA

Function Evidence Code Pubs
Rac guanyl-nucleotide exchange factor activity ISS
Inferred from Sequence or Structural Similarity
more info
 
Rho guanyl-nucleotide exchange factor activity TAS
Traceable Author Statement
more info
PubMed 
cytoskeletal protein binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
dendrite morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of phosphatase activity IDA
Inferred from Direct Assay
more info
PubMed 
regulation of Rho protein signal transduction IEA
Inferred from Electronic Annotation
more info
 
synapse assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
cell junction IEA
Inferred from Electronic Annotation
more info
 
cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
cytosol ISS
Inferred from Sequence or Structural Similarity
more info
 
dendrite ISS
Inferred from Sequence or Structural Similarity
more info
 
dendritic spine IEA
Inferred from Electronic Annotation
more info
 
extrinsic component of cytoplasmic side of plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
filopodium IEA
Inferred from Electronic Annotation
more info
 

General protein information

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
pleckstrin homology domain-containing family C member 2
protein phosphatase 1, regulatory subunit 75

NCBI Reference Sequences (RefSeq)

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_001001715.3NP_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)
    AL445223, BM763139, BQ014327, CF994038, DB498534
    Consensus CDS
    CCDS32000.1
    UniProtKB/Swiss-Prot
    Q9Y4F1
    Related
    ENSP00000365765.4, ENST00000376581.9
  2. NM_001286839.1NP_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/Swiss-Prot
    Q9Y4F1
    UniProtKB/TrEMBL
    C9JME2
    Related
    ENSP00000471242.1, ENST00000595437.5
    Conserved Domains (9) summary
    smart00295
    Location:42230
    B41; Band 4.1 homologues
    cd00160
    Location:542728
    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:789892
    PH1_FARP1-like; FERM, RhoGEF and pleckstrin domain-containing protein 1 and related proteins Pleckstrin Homology (PH) domain, repeat 1
    cd13193
    Location:217337
    FERM_C_FARP1-like; FERM domain C-lobe of FERM, RhoGEF and pleckstrin domain-containing protein 1 and related proteins
    cd13235
    Location:9621059
    PH2_FARP1-like; FERM, RhoGEF and pleckstrin domain-containing protein 1 and related proteins Pleckstrin Homology (PH) domain, repeat 2
    pfam00169
    Location:9671060
    PH; PH domain
    pfam00373
    Location:127230
    FERM_M; FERM central domain
    pfam08736
    Location:329370
    FA; FERM adjacent (FA)
    pfam09379
    Location:44107
    FERM_N; FERM N-terminal domain
  3. NM_005766.3NP_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, AW514534, BC053593, BC071592, CF994038, DB498534
    Consensus CDS
    CCDS9487.1
    UniProtKB/Swiss-Prot
    Q9Y4F1
    Related
    ENSP00000322926.6, ENST00000319562.10
    Conserved Domains (6) summary
    smart00295
    Location:42230
    B41; Band 4.1 homologues
    cd00160
    Location:542728
    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:753861
    PH1_FARP1-like; FERM, RhoGEF and pleckstrin domain-containing protein 1 and related proteins Pleckstrin Homology (PH) domain, repeat 1
    cd13193
    Location:217337
    FERM_C_FARP1-like; FERM domain C-lobe of FERM, RhoGEF and pleckstrin domain-containing protein 1 and related proteins
    cd13235
    Location:9311028
    PH2_FARP1-like; FERM, RhoGEF and pleckstrin domain-containing protein 1 and related proteins Pleckstrin Homology (PH) domain, repeat 2
    pfam08736
    Location:329370
    FA; FERM adjacent (FA)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p12 Primary Assembly

    Range
    98142562..98449773
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017020312.1XP_016875801.1  FERM, ARHGEF and pleckstrin domain-containing protein 1 isoform X2

    UniProtKB/Swiss-Prot
    Q9Y4F1
    Conserved Domains (6) summary
    smart00295
    Location:42230
    B41; Band 4.1 homologues
    cd00160
    Location:542728
    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:753861
    PH1_FARP1-like; FERM, RhoGEF and pleckstrin domain-containing protein 1 and related proteins Pleckstrin Homology (PH) domain, repeat 1
    cd13193
    Location:217337
    FERM_C_FARP1-like; FERM domain C-lobe of FERM, RhoGEF and pleckstrin domain-containing protein 1 and related proteins
    cd13235
    Location:9311028
    PH2_FARP1-like; FERM, RhoGEF and pleckstrin domain-containing protein 1 and related proteins Pleckstrin Homology (PH) domain, repeat 2
    pfam08736
    Location:329370
    FA; FERM adjacent (FA)
  2. XM_011521046.2XP_011519348.1  FERM, ARHGEF and pleckstrin domain-containing protein 1 isoform X1

    See identical proteins and their annotated locations for XP_011519348.1

    UniProtKB/TrEMBL
    C9JME2
    Related
    ENSP00000486285.1, ENST00000627049.2
    Conserved Domains (9) summary
    smart00295
    Location:42230
    B41; Band 4.1 homologues
    cd00160
    Location:542728
    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:789892
    PH1_FARP1-like; FERM, RhoGEF and pleckstrin domain-containing protein 1 and related proteins Pleckstrin Homology (PH) domain, repeat 1
    cd13193
    Location:217337
    FERM_C_FARP1-like; FERM domain C-lobe of FERM, RhoGEF and pleckstrin domain-containing protein 1 and related proteins
    cd13235
    Location:9621059
    PH2_FARP1-like; FERM, RhoGEF and pleckstrin domain-containing protein 1 and related proteins Pleckstrin Homology (PH) domain, repeat 2
    pfam00169
    Location:9671060
    PH; PH domain
    pfam00373
    Location:127230
    FERM_M; FERM central domain
    pfam08736
    Location:329370
    FA; FERM adjacent (FA)
    pfam09379
    Location:44107
    FERM_N; FERM N-terminal domain
  3. XM_017020313.2XP_016875802.1  FERM, ARHGEF and pleckstrin domain-containing protein 1 isoform X3

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