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Entry version 175 (16 Oct 2019)
Sequence version 1 (01 Oct 2000)
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Protein

Rho guanine nucleotide exchange factor 12

Gene

ARHGEF12

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

May play a role in the regulation of RhoA GTPase by guanine nucleotide-binding alpha-12 (GNA12) and alpha-13 (GNA13). Acts as guanine nucleotide exchange factor (GEF) for RhoA GTPase and may act as GTPase-activating protein (GAP) for GNA12 and GNA13.1 Publication

<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 functionGTPase activation, Guanine-nucleotide releasing factor

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-416482 G alpha (12/13) signalling events
R-HSA-416572 Sema4D induced cell migration and growth-cone collapse

SIGNOR Signaling Network Open Resource

More...
SIGNORi
Q9NZN5

<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 12
Alternative name(s):
Leukemia-associated 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:ARHGEF12
Synonyms:KIAA0382, LARG
<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 11

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:14193 ARHGEF12

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
604763 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9NZN5

<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 & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, 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

A chromosomal aberration involving ARHGEF12 may be a cause of acute leukemia. Translocation t(11;11)(q23;23) with KMT2A/MLL1.1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection describes interesting single amino acid sites on the sequence that are not defined in any other subsection. This subsection can be displayed in different sections (‘Function’, ‘PTM / Processing’, ‘Pathology and Biotech’) according to its content.<p><a href='/help/site' target='_top'>More...</a></p>Sitei308 – 309Breakpoint for translocation to form KMT2A/MLL1-ARHGEF12 oncogene2

Keywords - Diseasei

Proto-oncogene

Organism-specific databases

DisGeNET

More...
DisGeNETi
23365

Open Targets

More...
OpenTargetsi
ENSG00000196914

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA24969

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q9NZN5

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
ARHGEF12

Domain mapping of disease mutations (DMDM)

More...
DMDMi
34395525

<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 <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemovedCombined sources
<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_00000809302 – 1544Rho guanine nucleotide exchange factor 12Add BLAST1543

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 residuei2N-acetylserineCombined sources1
Modified residuei41PhosphoserineCombined sources1
Modified residuei309PhosphoserineCombined sources1
Modified residuei341PhosphoserineCombined sources1
Modified residuei637PhosphoserineCombined sources1
Modified residuei736PhosphothreonineCombined sources1
Modified residuei1288PhosphoserineCombined sources1
Modified residuei1327PhosphoserineCombined sources1
Modified residuei1377PhosphoserineCombined sources1
Modified residuei1457PhosphoserineCombined sources1
Modified residuei1541PhosphoserineCombined sources1
Isoform 2 (identifier: Q9NZN5-2)
Modified residuei41PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q9NZN5

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q9NZN5

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q9NZN5

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q9NZN5

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

More...
PaxDbi
Q9NZN5

PeptideAtlas

More...
PeptideAtlasi
Q9NZN5

PRoteomics IDEntifications database

More...
PRIDEi
Q9NZN5

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
83460 [Q9NZN5-1]
83461 [Q9NZN5-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9NZN5

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

More...
PhosphoSitePlusi
Q9NZN5

<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

Ubiquitously expressed. Isoform 2 is found in jejunum and testis.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000196914 Expressed in 235 organ(s), highest expression level in visceral pleura

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q9NZN5 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9NZN5 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
CAB025581
HPA018911

<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 GNA12 and GNA13, probably through the RGS-like domain.

Interacts with RHOA, PLXNB1 and PLXNB2.

Interacts through its PDZ domain with IGF1R beta subunit.

Interacts with GCSAM.

7 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
116945, 45 interactors

Database of interacting proteins

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DIPi
DIP-37887N

Protein interaction database and analysis system

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IntActi
Q9NZN5, 25 interactors

Molecular INTeraction database

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MINTi
Q9NZN5

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000380942

<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

Secondary structure

11544
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q9NZN5

Database of comparative protein structure models

More...
ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

More...
PDBe-KBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
Q9NZN5

<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>Domaini72 – 151PDZPROSITE-ProRule annotationAdd BLAST80
Domaini367 – 558RGSLAdd BLAST192
Domaini787 – 977DHPROSITE-ProRule annotationAdd BLAST191
Domaini1019 – 1132PHPROSITE-ProRule annotationAdd BLAST114

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 coili194 – 262Sequence analysisAdd BLAST69

Keywords - Domaini

Coiled coil

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG3520 Eukaryota
COG5422 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000157662

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000034046

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q9NZN5

KEGG Orthology (KO)

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KOi
K07532

Identification of Orthologs from Complete Genome Data

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OMAi
ERKTWFK

Database of Orthologous Groups

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OrthoDBi
319635at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9NZN5

TreeFam database of animal gene trees

More...
TreeFami
TF106495

Family and domain databases

Conserved Domains Database

More...
CDDi
cd13390 PH_LARG, 1 hit
cd08754 RGS_LARG, 1 hit
cd00160 RhoGEF, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
1.20.900.10, 1 hit
2.30.29.30, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR037801 ARHGEF12_PH
IPR035899 DBL_dom_sf
IPR000219 DH-domain
IPR001331 GDS_CDC24_CS
IPR037884 LARG_RGS
IPR001478 PDZ
IPR041489 PDZ_6
IPR036034 PDZ_sf
IPR011993 PH-like_dom_sf
IPR041020 PH_16
IPR001849 PH_domain
IPR015212 RGS-like_dom
IPR036305 RGS_sf

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF17820 PDZ_6, 1 hit
PF17838 PH_16, 1 hit
PF09128 RGS-like, 1 hit
PF00621 RhoGEF, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00228 PDZ, 1 hit
SM00233 PH, 1 hit
SM00325 RhoGEF, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF48065 SSF48065, 1 hit
SSF48097 SSF48097, 1 hit
SSF50156 SSF50156, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00741 DH_1, 1 hit
PS50010 DH_2, 1 hit
PS50106 PDZ, 1 hit
PS50003 PH_DOMAIN, 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>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)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.

<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 in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 <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 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9NZN5-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
MSGTQSTITD RFPLKKPIRH GSILNRESPT DKKQKVERIA SHDFDPTDSS
60 70 80 90 100
SKKTKSSSEE SRSEIYGLVQ RCVIIQKDDN GFGLTVSGDN PVFVQSVKED
110 120 130 140 150
GAAMRAGVQT GDRIIKVNGT LVTHSNHLEV VKLIKSGSYV ALTVQGRPPG
160 170 180 190 200
SPQIPLADSE VEPSVIGHMS PIMTSPHSPG ASGNMERITS PVLMGEENNV
210 220 230 240 250
VHNQKVEILR KMLQKEQERL QLLQEDYNRT PAQRLLKEIQ EAKKHIPQLQ
260 270 280 290 300
EQLSKATGSA QDGAVVTPSR PLGDTLTVSE AETDPGDVLG RTDCSSGDAS
310 320 330 340 350
RPSSDNADSP KSGPKERIYL EENPEKSETI QDTDTQSLVG SPSTRIAPHI
360 370 380 390 400
IGAEDDDFGT EHEQINGQCS CFQSIELLKS RPAHLAVFLH HVVSQFDPAT
410 420 430 440 450
LLCYLYSDLY KHTNSKETRR IFLEFHQFFL DRSAHLKVSV PDEMSADLEK
460 470 480 490 500
RRPELIPEDL HRHYIQTMQE RVHPEVQRHL EDFRQKRSMG LTLAESELTK
510 520 530 540 550
LDAERDKDRL TLEKERTCAE QIVAKIEEVL MTAQAVEEDK SSTMQYVILM
560 570 580 590 600
YMKHLGVKVK EPRNLEHKRG RIGFLPKIKQ SMKKDKEGEE KGKRRGFPSI
610 620 630 640 650
LGPPRRPSRH DNSAIGRAME LQKARHPKHL STPSSVSPEP QDSAKLRQSG
660 670 680 690 700
LANEGTDAGY LPANSMSSVA SGASFSQEGG KENDTGSKQV GETSAPGDTL
710 720 730 740 750
DGTPRTLNTV FDFPPPPLDQ VQEEECEVER VTEHGTPKPF RKFDSVAFGE
760 770 780 790 800
SQSEDEQFEN DLETDPPNWQ QLVSREVLLG LKPCEIKRQE VINELFYTER
810 820 830 840 850
AHVRTLKVLD QVFYQRVSRE GILSPSELRK IFSNLEDILQ LHIGLNEQMK
860 870 880 890 900
AVRKRNETSV IDQIGEDLLT WFSGPGEEKL KHAAATFCSN QPFALEMIKS
910 920 930 940 950
RQKKDSRFQT FVQDAESNPL CRRLQLKDII PTQMQRLTKY PLLLDNIAKY
960 970 980 990 1000
TEWPTEREKV KKAADHCRQI LNYVNQAVKE AENKQRLEDY QRRLDTSSLK
1010 1020 1030 1040 1050
LSEYPNVEEL RNLDLTKRKM IHEGPLVWKV NRDKTIDLYT LLLEDILVLL
1060 1070 1080 1090 1100
QKQDDRLVLR CHSKILASTA DSKHTFSPVI KLSTVLVRQV ATDNKALFVI
1110 1120 1130 1140 1150
SMSDNGAQIY ELVAQTVSEK TVWQDLICRM AASVKEQSTK PIPLPQSTPG
1160 1170 1180 1190 1200
EGDNDEEDPS KLKEEQHGIS VTGLQSPDRD LGLESTLISS KPQSHSLSTS
1210 1220 1230 1240 1250
GKSEVRDLFV AERQFAKEQH TDGTLKEVGE DYQIAIPDSH LPVSEERWAL
1260 1270 1280 1290 1300
DALRNLGLLK QLLVQQLGLT EKSVQEDWQH FPRYRTASQG PQTDSVIQNS
1310 1320 1330 1340 1350
ENIKAYHSGE GHMPFRTGTG DIATCYSPRT STESFAPRDS VGLAPQDSQA
1360 1370 1380 1390 1400
SNILVMDHMI MTPEMPTMEP EGGLDDSGEH FFDAREAHSD ENPSEGDGAV
1410 1420 1430 1440 1450
NKEEKDVNLR ISGNYLILDG YDPVQESSTD EEVASSLTLQ PMTGIPAVES
1460 1470 1480 1490 1500
THQQQHSPQN THSDGAISPF TPEFLVQQRW GAMEYSCFEI QSPSSCADSQ
1510 1520 1530 1540
SQIMEYIHKI EADLEHLKKV EESYTILCQR LAGSALTDKH SDKS
Length:1,544
Mass (Da):173,232
Last modified:October 1, 2000 - v1
<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:i0B7E319CF7C7A224
GO
Isoform 2 (identifier: Q9NZN5-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     48-66: Missing.

Show »
Length:1,525
Mass (Da):171,115
Checksum:i47FF1323DE2DFF55
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 is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9PMR6E9PMR6_HUMAN
Rho guanine nucleotide exchange fac...
ARHGEF12
1,441Annotation score:

Annotation score:2 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 AAH63117 differs from that shown. Contaminating sequence. Potential poly-A sequence.Curated

Natural variant

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_020191973Y → F1 PublicationCorresponds to variant dbSNP:rs2305013Ensembl.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.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_00813148 – 66Missing in isoform 2. 2 PublicationsAdd BLAST19

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

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DDBJi
Links Updated
AF180681 mRNA Translation: AAF36817.1
AB002380 mRNA Translation: BAA20836.2
BC063117 mRNA Translation: AAH63117.1 Sequence problems.

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS41727.1 [Q9NZN5-1]
CCDS55794.1 [Q9NZN5-2]

NCBI Reference Sequences

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RefSeqi
NP_001185594.1, NM_001198665.1 [Q9NZN5-2]
NP_001288013.1, NM_001301084.1
NP_056128.1, NM_015313.2 [Q9NZN5-1]
XP_011541022.1, XM_011542720.2
XP_016872910.1, XM_017017421.1

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000356641; ENSP00000349056; ENSG00000196914 [Q9NZN5-2]
ENST00000397843; ENSP00000380942; ENSG00000196914 [Q9NZN5-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
23365

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:23365

UCSC genome browser

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UCSCi
uc001pxl.3 human [Q9NZN5-1]

Keywords - Coding sequence diversityi

Alternative splicing, Chromosomal rearrangement, 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

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF180681 mRNA Translation: AAF36817.1
AB002380 mRNA Translation: BAA20836.2
BC063117 mRNA Translation: AAH63117.1 Sequence problems.
CCDSiCCDS41727.1 [Q9NZN5-1]
CCDS55794.1 [Q9NZN5-2]
RefSeqiNP_001185594.1, NM_001198665.1 [Q9NZN5-2]
NP_001288013.1, NM_001301084.1
NP_056128.1, NM_015313.2 [Q9NZN5-1]
XP_011541022.1, XM_011542720.2
XP_016872910.1, XM_017017421.1

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1TXDX-ray2.13A766-1138[»]
1X86X-ray3.22A/C/E/G766-1138[»]
2OMJNMR-A67-151[»]
2OS6NMR-A67-151[»]
SMRiQ9NZN5
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGridi116945, 45 interactors
DIPiDIP-37887N
IntActiQ9NZN5, 25 interactors
MINTiQ9NZN5
STRINGi9606.ENSP00000380942

PTM databases

iPTMnetiQ9NZN5
PhosphoSitePlusiQ9NZN5

Polymorphism and mutation databases

BioMutaiARHGEF12
DMDMi34395525

Proteomic databases

EPDiQ9NZN5
jPOSTiQ9NZN5
MassIVEiQ9NZN5
MaxQBiQ9NZN5
PaxDbiQ9NZN5
PeptideAtlasiQ9NZN5
PRIDEiQ9NZN5
ProteomicsDBi83460 [Q9NZN5-1]
83461 [Q9NZN5-2]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
23365

Genome annotation databases

EnsembliENST00000356641; ENSP00000349056; ENSG00000196914 [Q9NZN5-2]
ENST00000397843; ENSP00000380942; ENSG00000196914 [Q9NZN5-1]
GeneIDi23365
KEGGihsa:23365
UCSCiuc001pxl.3 human [Q9NZN5-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
23365
DisGeNETi23365

GeneCards: human genes, protein and diseases

More...
GeneCardsi
ARHGEF12
HGNCiHGNC:14193 ARHGEF12
HPAiCAB025581
HPA018911
MIMi604763 gene
neXtProtiNX_Q9NZN5
OpenTargetsiENSG00000196914
PharmGKBiPA24969

Human Unidentified Gene-Encoded large proteins database

More...
HUGEi
Search...

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3520 Eukaryota
COG5422 LUCA
GeneTreeiENSGT00940000157662
HOGENOMiHOG000034046
InParanoidiQ9NZN5
KOiK07532
OMAiERKTWFK
OrthoDBi319635at2759
PhylomeDBiQ9NZN5
TreeFamiTF106495

Enzyme and pathway databases

ReactomeiR-HSA-193648 NRAGE signals death through JNK
R-HSA-194840 Rho GTPase cycle
R-HSA-416482 G alpha (12/13) signalling events
R-HSA-416572 Sema4D induced cell migration and growth-cone collapse
SIGNORiQ9NZN5

Miscellaneous databases

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

More...
ChiTaRSi
ARHGEF12 human
EvolutionaryTraceiQ9NZN5

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
ARHGEF12

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

More...
GenomeRNAii
23365
PharosiQ9NZN5

Protein Ontology

More...
PROi
PR:Q9NZN5

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000196914 Expressed in 235 organ(s), highest expression level in visceral pleura
ExpressionAtlasiQ9NZN5 baseline and differential
GenevisibleiQ9NZN5 HS

Family and domain databases

CDDicd13390 PH_LARG, 1 hit
cd08754 RGS_LARG, 1 hit
cd00160 RhoGEF, 1 hit
Gene3Di1.20.900.10, 1 hit
2.30.29.30, 1 hit
InterProiView protein in InterPro
IPR037801 ARHGEF12_PH
IPR035899 DBL_dom_sf
IPR000219 DH-domain
IPR001331 GDS_CDC24_CS
IPR037884 LARG_RGS
IPR001478 PDZ
IPR041489 PDZ_6
IPR036034 PDZ_sf
IPR011993 PH-like_dom_sf
IPR041020 PH_16
IPR001849 PH_domain
IPR015212 RGS-like_dom
IPR036305 RGS_sf
PfamiView protein in Pfam
PF17820 PDZ_6, 1 hit
PF17838 PH_16, 1 hit
PF09128 RGS-like, 1 hit
PF00621 RhoGEF, 1 hit
SMARTiView protein in SMART
SM00228 PDZ, 1 hit
SM00233 PH, 1 hit
SM00325 RhoGEF, 1 hit
SUPFAMiSSF48065 SSF48065, 1 hit
SSF48097 SSF48097, 1 hit
SSF50156 SSF50156, 1 hit
PROSITEiView protein in PROSITE
PS00741 DH_1, 1 hit
PS50010 DH_2, 1 hit
PS50106 PDZ, 1 hit
PS50003 PH_DOMAIN, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
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 nameiARHGC_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: Q9NZN5
Secondary accession number(s): O15086, Q6P526
<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: August 29, 2003
Last sequence update: October 1, 2000
Last modified: October 16, 2019
This is version 175 of the entry and version 1 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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