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Protein

Rho guanine nucleotide exchange factor 9

Gene

ARHGEF9

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

Complete GO annotation...

Keywords - Molecular functioni

Guanine-nucleotide releasing factor

Enzyme and pathway databases

BioCyciZFISH:ENSG00000131089-MONOMER.
ReactomeiR-HSA-112314. Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell.
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-975298. Ligand-gated ion channel transport.
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

HGNCiHGNC:14561. ARHGEF9.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

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 rs121918361dbSNPEnsembl.1
Natural variantiVAR_072742290R → H in EIEE8. 2 Publications1

Keywords - Diseasei

Disease mutation, Epilepsy

Organism-specific databases

DisGeNETi23229.
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.

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

Sequence similaritiesi

Contains 1 DH (DBL-homology) domain.PROSITE-ProRule annotation
Contains 1 PH domain.PROSITE-ProRule annotation
Contains 1 SH3 domain.PROSITE-ProRule annotation

Keywords - Domaini

SH3 domain

Phylogenomic databases

eggNOGiKOG3519. Eukaryota.
ENOG410XT9S. LUCA.
GeneTreeiENSGT00760000118925.
HOGENOMiHOG000237363.
HOVERGENiHBG050568.
InParanoidiO43307.
KOiK20686.
PhylomeDBiO43307.
TreeFamiTF316832.

Family and domain databases

Gene3Di1.20.900.10. 1 hit.
2.30.29.30. 1 hit.
InterProiIPR000219. DH-domain.
IPR011993. PH_dom-like.
IPR001849. PH_domain.
IPR001452. SH3_domain.
[Graphical view]
PfamiPF00169. PH. 1 hit.
PF00621. RhoGEF. 1 hit.
PF00018. SH3_1. 1 hit.
[Graphical view]
SMARTiSM00233. PH. 1 hit.
SM00325. RhoGEF. 1 hit.
SM00326. SH3. 1 hit.
[Graphical view]
SUPFAMiSSF48065. SSF48065. 1 hit.
SSF50044. SSF50044. 1 hit.
SSF50729. SSF50729. 1 hit.
PROSITEiPS50010. DH_2. 1 hit.
PS50003. PH_DOMAIN. 1 hit.
PS50002. SH3. 1 hit.
[Graphical view]

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 rs121918361dbSNPEnsembl.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, AL355142, AL391277 Genomic DNA. Translation: CAI39550.1.
AL391277, AL355142, AL451106 Genomic DNA. Translation: CAI40401.1.
AL355142, AL391277, AL451106 Genomic DNA. Translation: CAI41195.1.
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

Cross-referencesi

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, AL355142, AL391277 Genomic DNA. Translation: CAI39550.1.
AL391277, AL355142, AL451106 Genomic DNA. Translation: CAI40401.1.
AL355142, AL391277, AL451106 Genomic DNA. Translation: CAI41195.1.
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.

3D structure databases

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

Protein-protein interaction databases

BioGridi116834. 4 interactors.
IntActiO43307. 4 interactors.
STRINGi9606.ENSP00000253401.

PTM databases

iPTMnetiO43307.
PhosphoSitePlusiO43307.

Polymorphism and mutation databases

BioMutaiARHGEF9.

Proteomic databases

MaxQBiO43307.
PaxDbiO43307.
PeptideAtlasiO43307.
PRIDEiO43307.

Protocols and materials databases

DNASUi23229.
Structural Biology KnowledgebaseSearch...

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]

Organism-specific databases

CTDi23229.
DisGeNETi23229.
GeneCardsiARHGEF9.
GeneReviewsiARHGEF9.
HGNCiHGNC:14561. ARHGEF9.
HPAiHPA035419.
HPA055291.
MalaCardsiARHGEF9.
MIMi300429. gene.
300607. phenotype.
neXtProtiNX_O43307.
OpenTargetsiENSG00000131089.
Orphaneti163985. Hyperekplexia - epilepsy.
PharmGKBiPA24978.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3519. Eukaryota.
ENOG410XT9S. LUCA.
GeneTreeiENSGT00760000118925.
HOGENOMiHOG000237363.
HOVERGENiHBG050568.
InParanoidiO43307.
KOiK20686.
PhylomeDBiO43307.
TreeFamiTF316832.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000131089-MONOMER.
ReactomeiR-HSA-112314. Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell.
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-975298. Ligand-gated ion channel transport.
R-HSA-977441. GABA A receptor activation.

Miscellaneous databases

ChiTaRSiARHGEF9. human.
EvolutionaryTraceiO43307.
GeneWikiiARHGEF9.
GenomeRNAii23229.
PROiO43307.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000131089.
CleanExiHS_ARHGEF9.
ExpressionAtlasiO43307. baseline and differential.
GenevisibleiO43307. HS.

Family and domain databases

Gene3Di1.20.900.10. 1 hit.
2.30.29.30. 1 hit.
InterProiIPR000219. DH-domain.
IPR011993. PH_dom-like.
IPR001849. PH_domain.
IPR001452. SH3_domain.
[Graphical view]
PfamiPF00169. PH. 1 hit.
PF00621. RhoGEF. 1 hit.
PF00018. SH3_1. 1 hit.
[Graphical view]
SMARTiSM00233. PH. 1 hit.
SM00325. RhoGEF. 1 hit.
SM00326. SH3. 1 hit.
[Graphical view]
SUPFAMiSSF48065. SSF48065. 1 hit.
SSF50044. SSF50044. 1 hit.
SSF50729. SSF50729. 1 hit.
PROSITEiPS50010. DH_2. 1 hit.
PS50003. PH_DOMAIN. 1 hit.
PS50002. SH3. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiARHG9_HUMAN
AccessioniPrimary (citable) accession number: O43307
Secondary accession number(s): A8K1S8
, B4DHC7, F8W7P8, Q5JSL6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 17, 2006
Last sequence update: October 17, 2006
Last modified: November 2, 2016
This is version 136 of the entry and version 3 of the sequence. [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

Documents

  1. Human chromosome X
    Human chromosome X: 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
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.