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Protein

Rho guanine nucleotide exchange factor 9

Gene

ARHGEF9

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

Functioni

Acts as guanine nucleotide exchange factor (GEF) for CDC42. Promotes formation of GPHN clusters.1 Publication

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionGuanine-nucleotide releasing factor

Enzyme and pathway databases

ReactomeiR-HSA-112314 Neurotransmitter receptors and postsynaptic signal transmission
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-977441 GABA A receptor activation

Names & Taxonomyi

Protein namesi
Recommended name:
Rho guanine nucleotide exchange factor 9
Alternative name(s):
Collybistin
PEM-2 homolog
Rac/Cdc42 guanine nucleotide exchange factor 9
Gene namesi
Name:ARHGEF9
Synonyms:ARHDH9, KIAA0424
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

EuPathDBiHostDB:ENSG00000131089.13
HGNCiHGNC:14561 ARHGEF9
MIMi300429 gene
neXtProtiNX_O43307

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

Cytoplasm

Pathology & Biotechi

Involvement in diseasei

Epileptic encephalopathy, early infantile, 8 (EIEE8)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by hyperekplexia and early infantile epileptic encephalopathy. Neurologic features include exaggerated startle response, seizures, impaired psychomotor development, and mental retardation. Seizures can be provoked by tactile stimulation or extreme emotion.
See also OMIM:300607
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02875255G → A in EIEE8; affects dendritic gephrin clustering and trafficking of GABA-A receptors to synapses. 1 PublicationCorresponds to variant dbSNP:rs121918361EnsemblClinVar.1
Natural variantiVAR_072742290R → H in EIEE8. 2 Publications1

Keywords - Diseasei

Disease mutation, Epilepsy

Organism-specific databases

DisGeNETi23229
GeneReviewsiARHGEF9
MalaCardsiARHGEF9
MIMi300607 phenotype
OpenTargetsiENSG00000131089
Orphaneti163985 Hyperekplexia - epilepsy
PharmGKBiPA24978

Polymorphism and mutation databases

BioMutaiARHGEF9

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002538951 – 516Rho guanine nucleotide exchange factor 9Add BLAST516

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei502PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiO43307
PaxDbiO43307
PeptideAtlasiO43307
PRIDEiO43307

PTM databases

iPTMnetiO43307
PhosphoSitePlusiO43307

Expressioni

Tissue specificityi

Detected in brain. Detected at low levels in heart.1 Publication

Gene expression databases

BgeeiENSG00000131089
CleanExiHS_ARHGEF9
ExpressionAtlasiO43307 baseline and differential
GenevisibleiO43307 HS

Organism-specific databases

HPAiHPA035419
HPA055291

Interactioni

Subunit structurei

Interacts with GPHN.

GO - Molecular functioni

Protein-protein interaction databases

BioGridi116834, 4 interactors
IntActiO43307, 4 interactors
STRINGi9606.ENSP00000253401

Structurei

Secondary structure

1516
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi11 – 17Combined sources7
Beta strandi22 – 26Combined sources5
Beta strandi34 – 39Combined sources6
Beta strandi42 – 49Combined sources8
Beta strandi54 – 58Combined sources5
Helixi59 – 61Combined sources3
Beta strandi62 – 66Combined sources5

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2YSQNMR-A7-75[»]
ProteinModelPortaliO43307
SMRiO43307
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiO43307

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini8 – 67SH3PROSITE-ProRule annotationAdd BLAST60
Domaini103 – 287DHPROSITE-ProRule annotationAdd BLAST185
Domaini318 – 425PHPROSITE-ProRule annotationAdd BLAST108

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni100 – 110Interaction with GPHNBy similarityAdd BLAST11

Keywords - Domaini

SH3 domain

Phylogenomic databases

eggNOGiKOG3519 Eukaryota
ENOG410XT9S LUCA
GeneTreeiENSGT00900000140796
HOGENOMiHOG000237363
HOVERGENiHBG050568
InParanoidiO43307
KOiK20686
PhylomeDBiO43307
TreeFamiTF316832

Family and domain databases

CDDicd00160 RhoGEF, 1 hit
cd11975 SH3_ARHGEF9, 1 hit
Gene3Di1.20.900.10, 1 hit
2.30.29.30, 1 hit
InterProiView protein in InterPro
IPR035728 ARHGEF9_SH3
IPR035899 DBL_dom_sf
IPR000219 DH-domain
IPR011993 PH-like_dom_sf
IPR001849 PH_domain
IPR036028 SH3-like_dom_sf
IPR001452 SH3_domain
PfamiView protein in Pfam
PF00169 PH, 1 hit
PF00621 RhoGEF, 1 hit
PF00018 SH3_1, 1 hit
SMARTiView protein in SMART
SM00233 PH, 1 hit
SM00325 RhoGEF, 1 hit
SM00326 SH3, 1 hit
SUPFAMiSSF48065 SSF48065, 1 hit
SSF50044 SSF50044, 1 hit
PROSITEiView protein in PROSITE
PS50010 DH_2, 1 hit
PS50003 PH_DOMAIN, 1 hit
PS50002 SH3, 1 hit

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: O43307-1) [UniParc]FASTAAdd to basket
Also known as: CB3(SH3+)

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
MTLLITGDSI VSAEAVWDHV TMANRELAFK AGDVIKVLDA SNKDWWWGQI
60 70 80 90 100
DDEEGWFPAS FVRLWVNQED EVEEGPSDVQ NGHLDPNSDC LCLGRPLQNR
110 120 130 140 150
DQMRANVINE IMSTERHYIK HLKDICEGYL KQCRKRRDMF SDEQLKVIFG
160 170 180 190 200
NIEDIYRFQM GFVRDLEKQY NNDDPHLSEI GPCFLEHQDG FWIYSEYCNN
210 220 230 240 250
HLDACMELSK LMKDSRYQHF FEACRLLQQM IDIAIDGFLL TPVQKICKYP
260 270 280 290 300
LQLAELLKYT AQDHSDYRYV AAALAVMRNV TQQINERKRR LENIDKIAQW
310 320 330 340 350
QASVLDWEGE DILDRSSELI YTGEMAWIYQ PYGRNQQRVF FLFDHQMVLC
360 370 380 390 400
KKDLIRRDIL YYKGRIDMDK YEVVDIEDGR DDDFNVSMKN AFKLHNKETE
410 420 430 440 450
EIHLFFAKKL EEKIRWLRAF REERKMVQED EKIGFEISEN QKRQAAMTVR
460 470 480 490 500
KVPKQKGVNS ARSVPPSYPP PQDPLNHGQY LVPDGIAQSQ VFEFTEPKRS
510
QSPFWQNFSR LTPFKK
Length:516
Mass (Da):60,982
Last modified:October 17, 2006 - v3
Checksum:iAAEE17366B46B707
GO
Isoform 2 (identifier: O43307-2) [UniParc]FASTAAdd to basket
Also known as: CB3(SH3-)

The sequence of this isoform differs from the canonical sequence as follows:
     1-10: MTLLITGDSI → MQWIRGGSGM
     11-63: Missing.

Show »
Length:463
Mass (Da):54,965
Checksum:i046F5EC27274EC71
GO
Isoform 3 (identifier: O43307-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-102: Missing.

Show »
Length:414
Mass (Da):49,458
Checksum:i65A0F069D8E0A009
GO

Sequence cautioni

The sequence BAA24854 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti109N → D in BAF82682 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02875255G → A in EIEE8; affects dendritic gephrin clustering and trafficking of GABA-A receptors to synapses. 1 PublicationCorresponds to variant dbSNP:rs121918361EnsemblClinVar.1
Natural variantiVAR_072742290R → H in EIEE8. 2 Publications1
Natural variantiVAR_069370401E → K Probable disease-associated mutation found in a patient with moderate mental retardation, speech delay and sleep disturbances. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0445551 – 102Missing in isoform 3. 1 PublicationAdd BLAST102
Alternative sequenceiVSP_0429201 – 10MTLLITGDSI → MQWIRGGSGM in isoform 2. 1 Publication10
Alternative sequenceiVSP_04292111 – 63Missing in isoform 2. 1 PublicationAdd BLAST53

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB007884 mRNA Translation: BAA24854.2 Different initiation.
AK289993 mRNA Translation: BAF82682.1
AK295033 mRNA Translation: BAG58088.1
AL451106 Genomic DNA No translation available.
AL391277 Genomic DNA No translation available.
AL355142 Genomic DNA No translation available.
BC056892 mRNA No translation available.
BC117406 mRNA Translation: AAI17407.1
CCDSiCCDS35315.1 [O43307-1]
CCDS55429.1 [O43307-3]
CCDS55430.1 [O43307-2]
RefSeqiNP_001166950.1, NM_001173479.1 [O43307-2]
NP_001166951.1, NM_001173480.1 [O43307-3]
NP_056000.1, NM_015185.2 [O43307-1]
XP_016884855.1, XM_017029366.1 [O43307-1]
XP_016884862.1, XM_017029373.1 [O43307-3]
UniGeneiHs.54697
Hs.734375

Genome annotation databases

EnsembliENST00000253401; ENSP00000253401; ENSG00000131089 [O43307-1]
ENST00000623517; ENSP00000485369; ENSG00000131089 [O43307-2]
ENST00000624843; ENSP00000485626; ENSG00000131089 [O43307-3]
GeneIDi23229
KEGGihsa:23229
UCSCiuc004dvj.3 human [O43307-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiARHG9_HUMAN
AccessioniPrimary (citable) accession number: O43307
Secondary accession number(s): A8K1S8
, B4DHC7, F8W7P8, Q5JSL6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 17, 2006
Last sequence update: October 17, 2006
Last modified: March 28, 2018
This is version 147 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

3D-structure, Complete proteome, Reference proteome

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