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Protein

Rho guanine nucleotide exchange factor 18

Gene

ARHGEF18

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Acts as guanine nucleotide exchange factor (GEF) for RhoA GTPases. Its activation induces formation of actin stress fibers. Also acts 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

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section specifies the position(s) and type(s) of zinc fingers within the protein.<p><a href='/help/zn_fing' target='_top'>More...</a></p>Zinc fingeri310 – 334C2H2-type; degeneratePROSITE-ProRule annotationAdd BLAST25

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionGuanine-nucleotide releasing factor
LigandMetal-binding, Zinc

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-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

SIGNOR Signaling Network Open Resource

More...
SIGNORi
Q6ZSZ5

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:ARHGEF18
Synonyms:KIAA0521
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 19

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000104880.17
HostDB:ENSG00000263264.1

Human Gene Nomenclature Database

More...
HGNCi
HGNC:17090 ARHGEF18

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
616432 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q6ZSZ5

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_078919458T → 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_078920854 – 1361Missing in RP78. 1 PublicationAdd BLAST508
Natural variantiVAR_0789211066 – 1361Missing in RP78. 1 PublicationAdd BLAST296
Natural variantiVAR_0789221101 – 1108Missing 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

DisGeNET

More...
DisGeNETi
23370

MalaCards human disease database

More...
MalaCardsi
ARHGEF18
MIMi617433 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000104880

Orphanet; a database dedicated to information on rare diseases and orphan drugs

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Orphaneti
791 Retinitis pigmentosa

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA128394630

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
ARHGEF18

Domain mapping of disease mutations (DMDM)

More...
DMDMi
296439444

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00003414151 – 1361Rho guanine nucleotide exchange factor 18Add BLAST1361

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei912PhosphothreonineBy similarity1
Modified residuei921PhosphoserineBy similarity1
Modified residuei1289PhosphoserineBy similarity1
Modified residuei1291PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q6ZSZ5

MaxQB - The MaxQuant DataBase

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MaxQBi
Q6ZSZ5

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q6ZSZ5

PeptideAtlas

More...
PeptideAtlasi
Q6ZSZ5

PRoteomics IDEntifications database

More...
PRIDEi
Q6ZSZ5

ProteomicsDB human proteome resource

More...
ProteomicsDBi
68246
68247 [Q6ZSZ5-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q6ZSZ5

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q6ZSZ5

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed in all tissues tested with highest expression in kidney and pancreas. Weakly or not expressed in liver, skeletal muscle and testis. Isoform 1: Expressed in eosinophils (PubMed:29601110). Isoform 2: Expressed in eosinophils (PubMed:29601110). Isoform 3: Expressed in eosinophils (PubMed:29601110). Isoform 4: Not detected in eosinophils (PubMed:29601110).4 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000104880 Expressed in 93 organ(s), highest expression level in spleen

CleanEx database of gene expression profiles

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CleanExi
HS_ARHGEF18

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q6ZSZ5 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q6ZSZ5 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA042689
HPA071867

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with SEPT9; the interaction may inhibit GEF activity (PubMed:15558029). 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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
116950, 7 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
Q6ZSZ5

Protein interaction database and analysis system

More...
IntActi
Q6ZSZ5, 3 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000352995

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
Q6ZSZ5

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini447 – 644DHPROSITE-ProRule annotationAdd BLAST198
Domaini684 – 786PHPROSITE-ProRule annotationAdd BLAST103

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and domains’ section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili1038 – 1148Sequence analysisAdd BLAST111

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi1042 – 1142Arg-richPROSITE-ProRule annotationAdd BLAST101
Compositional biasi1292 – 1346Pro-richPROSITE-ProRule annotationAdd BLAST55

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri310 – 334C2H2-type; degeneratePROSITE-ProRule annotationAdd BLAST25

Keywords - Domaini

Coiled coil, Zinc-finger

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IR0X Eukaryota
ENOG410ZR3G LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000157375

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000236361

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG104846

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q6ZSZ5

KEGG Orthology (KO)

More...
KOi
K21066

Identification of Orthologs from Complete Genome Data

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OMAi
EDDFPRR

Database of Orthologous Groups

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OrthoDBi
EOG091G00G7

Database for complete collections of gene phylogenies

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PhylomeDBi
Q6ZSZ5

TreeFam database of animal gene trees

More...
TreeFami
TF325887

Family and domain databases

Conserved Domains Database

More...
CDDi
cd15794 PH_ARHGEF18, 1 hit
cd00160 RhoGEF, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
1.20.900.10, 1 hit
2.30.29.30, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR037744 ARHGEF18_PH
IPR035899 DBL_dom_sf
IPR000219 DH-domain
IPR011993 PH-like_dom_sf
IPR001849 PH_domain
IPR013087 Znf_C2H2_type

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00621 RhoGEF, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00233 PH, 1 hit
SM00325 RhoGEF, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF48065 SSF48065, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50010 DH_2, 1 hit
PS50003 PH_DOMAIN, 1 hit
PS50157 ZINC_FINGER_C2H2_2, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (5+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 5 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 5 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q6ZSZ5-4) [UniParc]FASTAAdd to basket
Also known as: LOCGEF-X31 Publication

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
MGDDQEDDFP RRLSESMEDL SLDLGALQGS EYLQDLGLGA PSHSQPGETP
60 70 80 90 100
DSRPTGEEPG RDSLFSSLAG SQDLSRRRSW ERSRSCSESW RRLSLDASAV
110 120 130 140 150
DEEPCLPRTL ASLALNLPGG GLKTWTQGCL SGGGTPAESP GKECDSPKKR
160 170 180 190 200
GRSRSVPVSF YEIRSPEISP GLEVPTPPVQ GLEPPVLECM EKDHVEPDHV
210 220 230 240 250
LIVQQVLQEL RQYHGARQRA CMSASPGGAH SNLTWFEFLS ESEDGAGKNE
260 270 280 290 300
KSDKSTSVKR RLSCLRSRVT RQKEKGKSPA HLKDKGQDAR ERRECVNGHQ
310 320 330 340 350
LLQGTFSGPS SCPLCGKPFL SSASLKEHPR GTLLSDGSPA LSRNVGMTVS
360 370 380 390 400
QKGGPQPTPS PAGPGTQLGP ITGEMDEADS AFLKFKQTAD DSLSLTSPNT
410 420 430 440 450
ESIFVEDPYT ASLRSEIESD GHEFEAESWS LAVDAAYAKK QKREVVKRQD
460 470 480 490 500
VLYELMQTEV HHVRTLKIML KVYSRALQEE LQFSSKAIGR LFPCADDLLE
510 520 530 540 550
THSHFLARLK ERRQESLEEG SDRNYVIQKI GDLLVQQFSG ENGERMKEKY
560 570 580 590 600
GVFCSGHNEA VSHYKLLLQQ NKKFQNLIKK IGNFSIVRRL GVQECILLVT
610 620 630 640 650
QRITKYPVLV ERIIQNTEAG TEDYEDLTQA LNLIKDIISQ VDAKVSECEK
660 670 680 690 700
GQRLREIAGK MDLKSSSKLK NGLTFRKEDM LQRQLHLEGM LCWKTTSGRL
710 720 730 740 750
KDILAILLTD VLLLLQEKDQ KYVFASVDSK PPVISLQKLI VREVANEEKA
760 770 780 790 800
MFLISASLQG PEMYEIYTSS KEDRNAWMAH IQRAVESCPD EEEGPFSLPE
810 820 830 840 850
EERKVVEARA TRLRDFQERL SMKDQLIAQS LLEKQQIYLE MAEMGGLEDL
860 870 880 890 900
PQPRGLFRGG DPSETLQGEL ILKSAMSEIE GIQSLICRQL GSANGQAEDG
910 920 930 940 950
GSSTGPPRRA ETFAGYDCTN SPTKNGSFKK KVSSTDPRPR DWRGPPNSPD
960 970 980 990 1000
LKLSDSDIPG SSEESPQVVE APGTESDPRL PTVLESELVQ RIQTLSQLLL
1010 1020 1030 1040 1050
NLQAVIAHQD SYVETQRAAI QEREKQFRLQ STRGNLLLEQ ERQRNFEKQR
1060 1070 1080 1090 1100
EERAALEKLQ SQLRHEQQRW ERERQWQHQE LERAGARLQE REGEARQLRE
1110 1120 1130 1140 1150
RLEQERAELE RQRQAYQHDL ERLREAQRAV ERERERLELL RRLKKQNTAP
1160 1170 1180 1190 1200
GALPPDTLAE AQPPSHPPSF NGEGLEGPRV SMLPSGVGPE YAERPEVARR
1210 1220 1230 1240 1250
DSAPTENRLA KSDVPIQLLS ATNQFQRQAA VQQQIPTKLA ASTKGGKDKG
1260 1270 1280 1290 1300
GKSRGSQRWE SSASFDLKQQ LLLNKLMGKD ESTSRNRRSL SPILPGRHSP
1310 1320 1330 1340 1350
APPPDPGFPA PSPPPADSPS EGFSLKAGGT ALLPGPPAPS PLPATPLSAK
1360
EDASKEDVIF F
Length:1,361
Mass (Da):151,642
Last modified:October 10, 2018 - v4
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i3028B14BC119FBDC
GO
Isoform 2 (identifier: Q6ZSZ5-5) [UniParc]FASTAAdd to basket
Also known as: LOCGEF-X41 Publication

The sequence of this isoform differs from the canonical sequence as follows:
     1-5: MGDDQ → MTTVA

Show »
Length:1,361
Mass (Da):151,600
Checksum:iE31BF415EEAE44A9
GO
Isoform 3 (identifier: Q6ZSZ5-6) [UniParc]FASTAAdd to basket
Also known as: LOCGEF-X51 Publication

The sequence of this isoform differs from the canonical sequence as follows:
     1-16: Missing.

Show »
Length:1,345
Mass (Da):149,764
Checksum:i6A774DF92EB5CFC8
GO
Isoform 4 (identifier: Q6ZSZ5-2) [UniParc]FASTAAdd to basket
Also known as: p1141 Publication

The sequence of this isoform differs from the canonical sequence as follows:
     1-346: Missing.

Show »
Length:1,015
Mass (Da):114,077
Checksum:i03BD1D9224E422BD
GO
Isoform 5 (identifier: Q6ZSZ5-1) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-322: MGDDQEDDFP...PLCGKPFLSS → MVTVGTNILP...STNSVLASVT

Show »
Length:1,173
Mass (Da):130,813
Checksum:i9C96A4ED4C18FF88
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
M0QZS0M0QZS0_HUMAN
Rho guanine nucleotide exchange fac...
ARHGEF18
812Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
M0R125M0R125_HUMAN
Rho guanine nucleotide exchange fac...
ARHGEF18
86Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>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
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti371I → V in BAC86801 (PubMed:14702039).Curated1
Sequence conflicti1295P → S in BAC86801 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_078919458T → 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_078920854 – 1361Missing in RP78. 1 PublicationAdd BLAST508
Natural variantiVAR_044066889Q → R2 PublicationsCorresponds to variant dbSNP:rs2287918Ensembl.1
Natural variantiVAR_044067940R → Q. Corresponds to variant dbSNP:rs2287920Ensembl.1
Natural variantiVAR_0789211066 – 1361Missing in RP78. 1 PublicationAdd BLAST296
Natural variantiVAR_0789221101 – 1108Missing 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_0630991207N → S2 PublicationsCorresponds to variant dbSNP:rs9329368Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0598741 – 346Missing in isoform 4. 1 PublicationAdd BLAST346
Alternative sequenceiVSP_0598751 – 322MGDDQ…PFLSS → MVTVGTNILPSRPAASANTA REDAALFSRRIPPRHKNGAA QPGAAPGPGAPGANMGNAHS KSGDRHSALPGRPELSFYGS FPRKWSENVFLDNELLTSKI LSMLRPQSERGFRAGDLRYP THFLSTNSVLASVT in isoform 5. CuratedAdd BLAST322
Alternative sequenceiVSP_0598761 – 16Missing in isoform 3. 1 PublicationAdd BLAST16
Alternative sequenceiVSP_0598771 – 5MGDDQ → MTTVA in isoform 2. 1 Publication5

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
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.
AC126754 Genomic DNA No translation available.
BC077721 mRNA Translation: AAH77721.1 Sequence problems.

The Consensus CDS (CCDS) project

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CCDSi
CCDS12177.1 [Q6ZSZ5-2]
CCDS45946.1 [Q6ZSZ5-1]

NCBI Reference Sequences

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RefSeqi
NP_001124427.1, NM_001130955.1
NP_056133.2, NM_015318.3 [Q6ZSZ5-2]
XP_006722768.1, XM_006722705.3 [Q6ZSZ5-4]
XP_006722769.1, XM_006722706.3 [Q6ZSZ5-4]
XP_006722771.1, XM_006722708.2 [Q6ZSZ5-2]
XP_011526140.1, XM_011527838.2 [Q6ZSZ5-5]
XP_011526141.1, XM_011527839.2 [Q6ZSZ5-6]
XP_011526142.1, XM_011527840.1 [Q6ZSZ5-2]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.465761
Hs.736818

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000319670; ENSP00000319200; ENSG00000104880 [Q6ZSZ5-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
23370

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:23370

UCSC genome browser

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UCSCi
uc002mgh.4 human [Q6ZSZ5-4]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

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.
AC126754 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
NP_056133.2, NM_015318.3 [Q6ZSZ5-2]
XP_006722768.1, XM_006722705.3 [Q6ZSZ5-4]
XP_006722769.1, XM_006722706.3 [Q6ZSZ5-4]
XP_006722771.1, XM_006722708.2 [Q6ZSZ5-2]
XP_011526140.1, XM_011527838.2 [Q6ZSZ5-5]
XP_011526141.1, XM_011527839.2 [Q6ZSZ5-6]
XP_011526142.1, XM_011527840.1 [Q6ZSZ5-2]
UniGeneiHs.465761
Hs.736818

3D structure databases

ProteinModelPortaliQ6ZSZ5
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi116950, 7 interactors
CORUMiQ6ZSZ5
IntActiQ6ZSZ5, 3 interactors
STRINGi9606.ENSP00000352995

PTM databases

iPTMnetiQ6ZSZ5
PhosphoSitePlusiQ6ZSZ5

Polymorphism and mutation databases

BioMutaiARHGEF18
DMDMi296439444

Proteomic databases

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

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
23370
DisGeNETi23370
EuPathDBiHostDB:ENSG00000104880.17
HostDB:ENSG00000263264.1

GeneCards: human genes, protein and diseases

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GeneCardsi
ARHGEF18
ENSG00000263264
HGNCiHGNC:17090 ARHGEF18
HPAiHPA042689
HPA071867
MalaCardsiARHGEF18
MIMi616432 gene
617433 phenotype
neXtProtiNX_Q6ZSZ5
OpenTargetsiENSG00000104880
Orphaneti791 Retinitis pigmentosa
PharmGKBiPA128394630

Human Unidentified Gene-Encoded large proteins database

More...
HUGEi
Search...

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IR0X Eukaryota
ENOG410ZR3G LUCA
GeneTreeiENSGT00940000157375
HOGENOMiHOG000236361
HOVERGENiHBG104846
InParanoidiQ6ZSZ5
KOiK21066
OMAiEDDFPRR
OrthoDBiEOG091G00G7
PhylomeDBiQ6ZSZ5
TreeFamiTF325887

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

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
ARHGEF18 human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
23370

Protein Ontology

More...
PROi
PR:Q6ZSZ5

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000104880 Expressed in 93 organ(s), highest expression level in spleen
CleanExiHS_ARHGEF18
ExpressionAtlasiQ6ZSZ5 baseline and differential
GenevisibleiQ6ZSZ5 HS

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
IPR013087 Znf_C2H2_type
PfamiView protein in Pfam
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
PS50157 ZINC_FINGER_C2H2_2, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiARHGI_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q6ZSZ5
Secondary accession number(s): A8MV62
, B5ME81, I3L1I5, O60274, Q6DD92
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 10, 2008
Last sequence update: October 10, 2018
Last modified: December 5, 2018
This is version 138 of the entry and version 4 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>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 polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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