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UniProtKB - Q6ZSZ5 (ARHGI_HUMAN)

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Protein

Rho guanine nucleotide exchange factor 18

Gene

ARHGEF18

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Acts as guanine nucleotide exchange factor (GEF) for RhoA GTPases. Its activation induces formation of actin stress fibers. Also act as a GEF for RAC1, inducing production of reactive oxygen species (ROS). Does not act as a GEF for CDC42. The G protein beta-gamma (Gbetagamma) subunits of heterotrimeric G proteins act as activators, explaining the integrated effects of LPA and other G-protein coupled receptor agonists on actin stress fiber formation, cell shape change and ROS production. Required for EPB41L4B-mediated regulation of the circumferential actomyosin belt in epithelial cells (PubMed:22006950).5 Publications

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionGuanine-nucleotide releasing factor

Enzyme and pathway databases

ReactomeiR-HSA-193648 NRAGE signals death through JNK
R-HSA-194840 Rho GTPase cycle
R-HSA-2173791 TGF-beta receptor signaling in EMT (epithelial to mesenchymal transition)
R-HSA-416482 G alpha (12/13) signalling events
SIGNORiQ6ZSZ5

Names & Taxonomyi

Protein namesi
Recommended name:
Rho guanine nucleotide exchange factor 18
Alternative name(s):
114 kDa Rho-specific guanine nucleotide exchange factor
Short name:
p114-Rho-GEF
Short name:
p114RhoGEF
Septin-associated RhoGEF
Short name:
SA-RhoGEF
Gene namesi
Name:ARHGEF18
Synonyms:KIAA0521
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

EuPathDBiHostDB:ENSG00000104880.17
HGNCiHGNC:17090 ARHGEF18
MIMi616432 gene
neXtProtiNX_Q6ZSZ5

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell membrane, Cytoplasm, Cytoskeleton, Membrane

Pathology & Biotechi

Involvement in diseasei

Retinitis pigmentosa 78 (RP78)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of retinitis pigmentosa, a retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP78 inheritance is autosomal recessive.
See also OMIM:617433
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_078919270T → A in RP78; decreased function in positive regulation of Rho protein signal transduction; loss of function in regulation of actomyosin structure organization. 1 PublicationCorresponds to variant dbSNP:rs987233144Ensembl.1
Natural variantiVAR_078920666 – 1173Missing in RP78. 1 PublicationAdd BLAST508
Natural variantiVAR_078921878 – 1173Missing in RP78. 1 PublicationAdd BLAST296
Natural variantiVAR_078922913 – 920Missing in RP78; no effect on function in positive regulation of Rho protein signal transduction; decreased function in regulation of actomyosin structure organization. 1 Publication8

Keywords - Diseasei

Disease mutation, Retinitis pigmentosa

Organism-specific databases

DisGeNETi23370
MalaCardsiARHGEF18
MIMi617433 phenotype
OpenTargetsiENSG00000104880
PharmGKBiPA128394630

Polymorphism and mutation databases

BioMutaiARHGEF18
DMDMi296439444

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003414151 – 1173Rho guanine nucleotide exchange factor 18Add BLAST1173

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei724PhosphothreonineBy similarity1
Modified residuei733PhosphoserineBy similarity1
Modified residuei1101PhosphoserineBy similarity1
Modified residuei1103PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ6ZSZ5
MaxQBiQ6ZSZ5
PaxDbiQ6ZSZ5
PeptideAtlasiQ6ZSZ5
PRIDEiQ6ZSZ5
ProteomicsDBi68246
68247 [Q6ZSZ5-2]

PTM databases

iPTMnetiQ6ZSZ5
PhosphoSitePlusiQ6ZSZ5

Expressioni

Tissue specificityi

Expressed in all tissues tested with highest expression in kidney and pancreas. Weakly or not expressed in liver, skeletal muscle and testis.3 Publications

Gene expression databases

BgeeiENSG00000104880
CleanExiHS_ARHGEF18
ExpressionAtlasiQ6ZSZ5 baseline and differential
GenevisibleiQ6ZSZ5 HS

Organism-specific databases

HPAiHPA042689
HPA071867

Interactioni

Subunit structurei

Interacts with SEPT9 (PubMed:15558029); interaction may inhibit GEF activity. Interacts with Gbetagamma subunits GNB1 and GNG2 (PubMed:14512443). Interacts with EPB41L4B (PubMed:22006950). Interacts with PATJ (via C-terminus) (PubMed:22006950).3 Publications

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridi116950, 7 interactors
IntActiQ6ZSZ5, 2 interactors
STRINGi9606.ENSP00000352995

Structurei

3D structure databases

ProteinModelPortaliQ6ZSZ5
SMRiQ6ZSZ5
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini259 – 456DHPROSITE-ProRule annotationAdd BLAST198
Domaini496 – 598PHPROSITE-ProRule annotationAdd BLAST103

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili799 – 819Sequence analysisAdd BLAST21
Coiled coili850 – 960Sequence analysisAdd BLAST111

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi1104 – 1158Pro-richAdd BLAST55

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiENOG410IR0X Eukaryota
ENOG410ZR3G LUCA
GeneTreeiENSGT00760000119193
HOGENOMiHOG000236361
HOVERGENiHBG104846
InParanoidiQ6ZSZ5
KOiK21066
OMAiQFRLQST
OrthoDBiEOG091G00G7
PhylomeDBiQ6ZSZ5
TreeFamiTF325887

Family and domain databases

CDDicd15794 PH_ARHGEF18, 1 hit
cd00160 RhoGEF, 1 hit
Gene3Di1.20.900.10, 1 hit
2.30.29.30, 1 hit
InterProiView protein in InterPro
IPR037744 ARHGEF18_PH
IPR035899 DBL_dom_sf
IPR000219 DH-domain
IPR011993 PH-like_dom_sf
IPR001849 PH_domain
PfamiView protein in Pfam
PF00169 PH, 1 hit
PF00621 RhoGEF, 1 hit
SMARTiView protein in SMART
SM00233 PH, 1 hit
SM00325 RhoGEF, 1 hit
SUPFAMiSSF48065 SSF48065, 1 hit
PROSITEiView protein in PROSITE
PS50010 DH_2, 1 hit
PS50003 PH_DOMAIN, 1 hit

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q6ZSZ5-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MVTVGTNILP SRPAASANTA REDAALFSRR IPPRHKNGAA QPGAAPGPGA 
        60         70         80         90        100
PGANMGNAHS KSGDRHSALP GRPELSFYGS FPRKWSENVF LDNELLTSKI 
       110        120        130        140        150
LSVLRPQSER GFRAGDLRYP THFLSTNSVL ASVTASLKEH PRGTLLSDGS 
       160        170        180        190        200
PALSRNVGMT VSQKGGPQPT PSPAGPGTQL GPITGEMDEA DSAFLKFKQT 
       210        220        230        240        250
ADDSLSLTSP NTESIFVEDP YTASLRSEIE SDGHEFEAES WSLAVDAAYA 
       260        270        280        290        300
KKQKREVVKR QDVLYELMQT EVHHVRTLKI MLKVYSRALQ EELQFSSKAI 
       310        320        330        340        350
GRLFPCADDL LETHSHFLAR LKERRQESLE EGSDRNYVIQ KIGDLLVQQF 
       360        370        380        390        400
SGENGERMKE KYGVFCSGHN EAVSHYKLLL QQNKKFQNLI KKIGNFSIVR 
       410        420        430        440        450
RLGVQECILL VTQRITKYPV LVERIIQNTE AGTEDYEDLT QALNLIKDII 
       460        470        480        490        500
SQVDAKVSEC EKGQRLREIA GKMDLKSSSK LKNGLTFRKE DMLQRQLHLE 
       510        520        530        540        550
GMLCWKTTSG RLKDILAILL TDVLLLLQEK DQKYVFASVD SKPPVISLQK 
       560        570        580        590        600
LIVREVANEE KAMFLISASL QGPEMYEIYT SSKEDRNAWM AHIQRAVESC 
       610        620        630        640        650
PDEEEGPFSL PEEERKVVEA RATRLRDFQE RLSMKDQLIA QSLLEKQQIY 
       660        670        680        690        700
LEMAEMGGLE DLPQPRGLFR GGDPSETLQG ELILKSAMSE IEGIQSLICR 
       710        720        730        740        750
QLGSANGQAE DGGSSTGPPR RAETFAGYDC TNSPTKNGSF KKKVSSTDPR 
       760        770        780        790        800
PRDWRGPPNS PDLKLSDSDI PGSSEESPQV VEAPGTESDP RLPTVLESEL 
       810        820        830        840        850
VQRIQTLSQL LLNLQAVIAH QDSYVETQRA AIQEREKQFR LQSTRGNLLL 
       860        870        880        890        900
EQERQRNFEK QREERAALEK LQSQLRHEQQ RWERERQWQH QELERAGARL 
       910        920        930        940        950
QEREGEARQL RERLEQERAE LERQRQAYQH DLERLREAQR AVERERERLE 
       960        970        980        990       1000
LLRRLKKQNT APGALPPDTL AEAQPPSHPP SFNGEGLEGP RVSMLPSGVG 
      1010       1020       1030       1040       1050
PEYAERPEVA RRDSAPTENR LAKSDVPIQL LSATNQFQRQ AAVQQQIPTK 
      1060       1070       1080       1090       1100
LAASTKGGKD KGGKSRGSQR WESSASFDLK QQLLLNKLMG KDESTSRNRR 
      1110       1120       1130       1140       1150
SLSPILPGRH SPAPPPDPGF PAPSPPPADS PSEGFSLKAG GTALLPGPPA 
      1160       1170 
PSPLPATPLS AKEDASKEDV IFF
Length:1,173
Mass (Da):130,780
Last modified:May 18, 2010 - v3
Checksum:iD986A1F85D48EE24
GO
Isoform 2 (identifier: Q6ZSZ5-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-158: Missing.

Show »
Length:1,015
Mass (Da):114,077
Checksum:i03BD1D9224E422BD
GO

Sequence cautioni

The sequence AAH77721 differs from that shown. Aberrant splicing.Curated
The sequence BAA25447 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti103V → M in BAC86801 (PubMed:14702039).Curated1
Sequence conflicti183I → V in BAC86801 (PubMed:14702039).Curated1
Sequence conflicti1107P → S in BAC86801 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_078919270T → A in RP78; decreased function in positive regulation of Rho protein signal transduction; loss of function in regulation of actomyosin structure organization. 1 PublicationCorresponds to variant dbSNP:rs987233144Ensembl.1
Natural variantiVAR_078920666 – 1173Missing in RP78. 1 PublicationAdd BLAST508
Natural variantiVAR_044066701Q → R2 PublicationsCorresponds to variant dbSNP:rs2287918Ensembl.1
Natural variantiVAR_044067752R → Q. Corresponds to variant dbSNP:rs2287920Ensembl.1
Natural variantiVAR_078921878 – 1173Missing in RP78. 1 PublicationAdd BLAST296
Natural variantiVAR_078922913 – 920Missing in RP78; no effect on function in positive regulation of Rho protein signal transduction; decreased function in regulation of actomyosin structure organization. 1 Publication8
Natural variantiVAR_0630991019N → S2 PublicationsCorresponds to variant dbSNP:rs9329368Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0343151 – 158Missing in isoform 2. 2 PublicationsAdd BLAST158

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB011093 mRNA Translation: BAA25447.1 Different initiation.
AK127045 mRNA Translation: BAC86801.1
AC008878 Genomic DNA No translation available.
AC119396 Genomic DNA No translation available.
BC077721 mRNA Translation: AAH77721.1 Sequence problems.
CCDSiCCDS12177.1 [Q6ZSZ5-2]
CCDS45946.1 [Q6ZSZ5-1]
RefSeqiNP_001124427.1, NM_001130955.1 [Q6ZSZ5-1]
NP_056133.2, NM_015318.3 [Q6ZSZ5-2]
XP_006722771.1, XM_006722708.2 [Q6ZSZ5-2]
XP_011526142.1, XM_011527840.1 [Q6ZSZ5-2]
UniGeneiHs.465761
Hs.736818

Genome annotation databases

EnsembliENST00000319670; ENSP00000319200; ENSG00000104880 [Q6ZSZ5-2]
ENST00000359920; ENSP00000352995; ENSG00000104880 [Q6ZSZ5-1]
GeneIDi23370
KEGGihsa:23370
UCSCiuc002mgh.4 human [Q6ZSZ5-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiARHGI_HUMAN
AccessioniPrimary (citable) accession number: Q6ZSZ5
Secondary accession number(s): A8MV62
, B5ME81, O60274, Q6DD92
Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 10, 2008
Last sequence update: May 18, 2010
Last modified: July 18, 2018
This is version 134 of the entry and version 3 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

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