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ARHGEF18 Rho/Rac guanine nucleotide exchange factor 18 [ Homo sapiens (human) ]

Gene ID: 23370, updated on 4-May-2020

Summary

Official Symbol
ARHGEF18provided by HGNC
Official Full Name
Rho/Rac guanine nucleotide exchange factor 18provided by HGNC
Primary source
HGNC:HGNC:17090
See related
Ensembl:ENSG00000104880 Ensembl:ENSG00000268861 MIM:616432
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
RP78; SA-RhoGEF; p114RhoGEF; P114-RhoGEF
Summary
Rho GTPases are GTP binding proteins that regulate a wide spectrum of cellular functions. These cellular processes include cytoskeletal rearrangements, gene transcription, cell growth and motility. Activation of Rho GTPases is under the direct control of guanine nucleotide exchange factors (GEFs). The protein encoded by this gene is a guanine nucleotide exchange factor and belongs to the Rho GTPase GEF family. Family members share a common feature, a Dbl (DH) homology domain followed by a pleckstrin (PH) homology domain. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Nov 2018]
Expression
Ubiquitous expression in spleen (RPKM 12.9), lymph node (RPKM 11.3) and 25 other tissues See more
Orthologs

Genomic context

See ARHGEF18 in Genome Data Viewer
Location:
19p13.2
Exon count:
35
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (7348901..7476990)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (7420481..7537371)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene zinc finger protein 557 Neighboring gene insulin receptor Neighboring gene uncharacterized LOC107985284 Neighboring gene Sharpr-MPRA regulatory region 11228 Neighboring gene peroxisomal biogenesis factor 11 gamma Neighboring gene uncharacterized LOC105372261 Neighboring gene testis expressed 45 Neighboring gene zinc finger protein 358

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 Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Retinitis pigmentosa 78
MedGen: C4479481 OMIM: 617433 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Genome-wide association study of SSRI/SNRI-induced sexual dysfunction in a Japanese cohort with major depression.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0521, MGC15913

Gene Ontology Provided by GOA

Function Evidence Code Pubs
Rho guanyl-nucleotide exchange factor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
guanyl-nucleotide exchange factor activity IDA
Inferred from Direct Assay
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
nucleic acid binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
apical part of cell IDA
Inferred from Direct Assay
more info
PubMed 
apical plasma membrane IEA
Inferred from Electronic Annotation
more info
 
cell junction TAS
Traceable Author Statement
more info
 
cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
rho guanine nucleotide exchange factor 18
Names
114 kDa Rho-specific guanine nucleotide exchange factor
Rho-specific guanine nucleotide exchange factor p114
Rho/Rac guanine nucleotide exchange factor (GEF) 18
septin-associated RhoGEF

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.

Genomic

  1. NG_047135.1 RefSeqGene

    Range
    51235..128568
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001130955.2NP_001124427.2  rho guanine nucleotide exchange factor 18 isoform b

    Status: REVIEWED

    Source sequence(s)
    AA609742, AB011093, AC008878, AK127045
    Consensus CDS
    CCDS45946.1
    Related
    ENSP00000352995.5, ENST00000359920.11
  2. NM_001367823.1NP_001354752.1  rho guanine nucleotide exchange factor 18 isoform c

    Status: REVIEWED

    Source sequence(s)
    AC008878, AC119396
  3. NM_001367824.1NP_001354753.1  rho guanine nucleotide exchange factor 18 isoform a

    Status: REVIEWED

    Source sequence(s)
    AC008878, AC119396
  4. NM_015318.4NP_056133.2  rho guanine nucleotide exchange factor 18 isoform a

    See identical proteins and their annotated locations for NP_056133.2

    Status: REVIEWED

    Source sequence(s)
    AA609742, AB011093, AK127045, DB075637
    Consensus CDS
    CCDS12177.1
    UniProtKB/Swiss-Prot
    Q6ZSZ5
    Related
    ENSP00000319200.7, ENST00000319670.13
    Conserved Domains (5) summary
    cd00160
    Location:102296
    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.
    cd15794
    Location:336454
    PH_ARHGEF18; Rho guanine nucleotide exchange factor 18 Pleckstrin homology (PH) domain
    pfam00169
    Location:375440
    PH; PH domain
    pfam11981
    Location:704777
    DUF3482; Domain of unknown function (DUF3482)
    cl24005
    Location:650745
    DUF2570; Protein of unknown function (DUF2570)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    7348901..7476990
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006722706.3XP_006722769.1  rho guanine nucleotide exchange factor 18 isoform X3

    See identical proteins and their annotated locations for XP_006722769.1

    Conserved Domains (4) summary
    PRK13729
    Location:10841228
    PRK13729; conjugal transfer pilus assembly protein TraB; Provisional
    cd00160
    Location:448642
    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.
    cd15794
    Location:682800
    PH_ARHGEF18; Rho guanine nucleotide exchange factor 18 Pleckstrin homology (PH) domain
    cl25742
    Location:10141128
    ERM; Ezrin/radixin/moesin family
  2. XM_011527836.2XP_011526138.1  rho guanine nucleotide exchange factor 18 isoform X1

    See identical proteins and their annotated locations for XP_011526138.1

    Conserved Domains (6) summary
    cd00160
    Location:513707
    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.
    cd15794
    Location:747865
    PH_ARHGEF18; Rho guanine nucleotide exchange factor 18 Pleckstrin homology (PH) domain
    pfam00169
    Location:786851
    PH; PH domain
    pfam12474
    Location:10861193
    PKK; Polo kinase kinase
    pfam13863
    Location:11111190
    DUF4200; Domain of unknown function (DUF4200)
    cl24005
    Location:10611156
    DUF2570; Protein of unknown function (DUF2570)
  3. XM_011527835.2XP_011526137.1  rho guanine nucleotide exchange factor 18 isoform X1

    See identical proteins and their annotated locations for XP_011526137.1

    Conserved Domains (6) summary
    cd00160
    Location:513707
    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.
    cd15794
    Location:747865
    PH_ARHGEF18; Rho guanine nucleotide exchange factor 18 Pleckstrin homology (PH) domain
    pfam00169
    Location:786851
    PH; PH domain
    pfam12474
    Location:10861193
    PKK; Polo kinase kinase
    pfam13863
    Location:11111190
    DUF4200; Domain of unknown function (DUF4200)
    cl24005
    Location:10611156
    DUF2570; Protein of unknown function (DUF2570)
  4. XM_005272464.4XP_005272521.1  rho guanine nucleotide exchange factor 18 isoform X1

    See identical proteins and their annotated locations for XP_005272521.1

    Conserved Domains (6) summary
    cd00160
    Location:513707
    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.
    cd15794
    Location:747865
    PH_ARHGEF18; Rho guanine nucleotide exchange factor 18 Pleckstrin homology (PH) domain
    pfam00169
    Location:786851
    PH; PH domain
    pfam12474
    Location:10861193
    PKK; Polo kinase kinase
    pfam13863
    Location:11111190
    DUF4200; Domain of unknown function (DUF4200)
    cl24005
    Location:10611156
    DUF2570; Protein of unknown function (DUF2570)
  5. XM_011527837.2XP_011526139.1  rho guanine nucleotide exchange factor 18 isoform X2

    Conserved Domains (6) summary
    cd00160
    Location:513707
    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.
    cd15794
    Location:747865
    PH_ARHGEF18; Rho guanine nucleotide exchange factor 18 Pleckstrin homology (PH) domain
    pfam00169
    Location:786851
    PH; PH domain
    pfam12474
    Location:10861193
    PKK; Polo kinase kinase
    pfam13863
    Location:11111190
    DUF4200; Domain of unknown function (DUF4200)
    cl24005
    Location:10611156
    DUF2570; Protein of unknown function (DUF2570)
  6. XM_011527841.2XP_011526143.1  rho guanine nucleotide exchange factor 18 isoform X7

    Conserved Domains (3) summary
    cd00160
    Location:513707
    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.
    cd15794
    Location:747865
    PH_ARHGEF18; Rho guanine nucleotide exchange factor 18 Pleckstrin homology (PH) domain
    pfam00169
    Location:786851
    PH; PH domain
  7. XM_011527839.2XP_011526141.1  rho guanine nucleotide exchange factor 18 isoform X5

    Conserved Domains (5) summary
    cd00160
    Location:432626
    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.
    cd15794
    Location:666784
    PH_ARHGEF18; Rho guanine nucleotide exchange factor 18 Pleckstrin homology (PH) domain
    pfam00169
    Location:705770
    PH; PH domain
    pfam13863
    Location:10301109
    DUF4200; Domain of unknown function (DUF4200)
    cl24005
    Location:9801075
    DUF2570; Protein of unknown function (DUF2570)
  8. XM_011527838.3XP_011526140.1  rho guanine nucleotide exchange factor 18 isoform X4

    Conserved Domains (5) summary
    cd00160
    Location:448642
    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.
    cd15794
    Location:682800
    PH_ARHGEF18; Rho guanine nucleotide exchange factor 18 Pleckstrin homology (PH) domain
    pfam00169
    Location:721786
    PH; PH domain
    pfam13863
    Location:10461125
    DUF4200; Domain of unknown function (DUF4200)
    cl24005
    Location:9961091
    DUF2570; Protein of unknown function (DUF2570)
  9. XM_011527840.2XP_011526142.1  rho guanine nucleotide exchange factor 18 isoform X6

    See identical proteins and their annotated locations for XP_011526142.1

    UniProtKB/Swiss-Prot
    Q6ZSZ5
    Related
    ENSP00000499655.1, ENST00000668164.1
    Conserved Domains (5) summary
    cd00160
    Location:102296
    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.
    cd15794
    Location:336454
    PH_ARHGEF18; Rho guanine nucleotide exchange factor 18 Pleckstrin homology (PH) domain
    pfam00169
    Location:375440
    PH; PH domain
    pfam11981
    Location:704777
    DUF3482; Domain of unknown function (DUF3482)
    cl24005
    Location:650745
    DUF2570; Protein of unknown function (DUF2570)
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