O43307 (ARHG9_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
January 25, 2012.
Version 88.
History...
Names·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Rho guanine nucleotide exchange factor 9 Alternative name(s): Collybistin PEM-2 homolog Rac/Cdc42 guanine nucleotide exchange factor 9 | ||||
| Gene names |
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| Organism | Homo sapiens (Human) | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 516 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | Acts as guanine nucleotide exchange factor (GEF) for CDC42. Promotes formation of GPHN clusters. Ref.4 |
| Subunit structure | Interacts with GPHN. |
| Subcellular location | |
| Tissue specificity | Detected in brain. Detected at low levels in heart. Ref.4 |
| Involvement in disease | Defects in ARHGEF9 are a cause of startle disease with epilepsy (STHEE) [MIM:300607]; also known as hyperekplexia with epilepsy. Startle disease is a genetically heterogeneous neurologic disorder. STHE is characterized by muscular rigidity of central nervous system origin, particularly in the neonatal period, and by an exaggerated startle response to unexpected acoustic or tactile stimuli. Ref.6 |
| Sequence similarities | Contains 1 DH (DBL-homology) domain. Contains 1 PH domain. Contains 1 SH3 domain. |
| Sequence caution | The sequence BAA24854.2 differs from that shown. Reason: Erroneous initiation. |
Ontologies
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | |||||||||||||||
Molecule processing | ||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 516 | 516 | Rho guanine nucleotide exchange factor 9 | PRO_0000253895 | ||||||||||||||||
Regions | ||||||||||||||||||||
| Domain | 8 – 67 | 60 | SH3 | |||||||||||||||||
| Domain | 103 – 287 | 185 | DH | |||||||||||||||||
| Domain | 318 – 425 | 108 | PH | |||||||||||||||||
| Region | 100 – 110 | 11 | Interaction with GPHN By similarity | |||||||||||||||||
Natural variations | ||||||||||||||||||||
| Natural variant | 55 | 1 | G → A in STHEE; affects dendritic gephrin clustering and trafficking of GABA-A receptors to synapses. Ref.6 | VAR_028752 | ||||||||||||||||
Secondary structure | ||||||||||||||||||||
Helix Strand Turn | ||||||||||||||||||||
| Beta strand | 11 – 17 | 7 | ||||||||||||||||||
| Beta strand | 22 – 26 | 5 | ||||||||||||||||||
| Beta strand | 34 – 37 | 4 | ||||||||||||||||||
| Beta strand | 42 – 47 | 6 | ||||||||||||||||||
| Helix | 59 – 61 | 3 | ||||||||||||||||||
| Beta strand | 62 – 66 | 5 | ||||||||||||||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Prediction of the coding sequences of unidentified human genes. VIII. 78 new cDNA clones from brain which code for large proteins in vitro." Ishikawa K., Nagase T., Nakajima D., Seki N., Ohira M., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O. DNA Res. 4:307-313(1997) [PubMed: 9455477] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Brain. |
| [2] | "The DNA sequence of the human X chromosome." Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C. Bentley D.R.Nature 434:325-337(2005) [PubMed: 15772651] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [3] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Brain. |
| [4] | "Identification and characterization of hPEM-2, a guanine nucleotide exchange factor specific for Cdc42." Reid T., Bathoorn A., Ahmadian M.R., Collard J.G. J. Biol. Chem. 274:33587-33593(1999) [PubMed: 10559246] [Abstract] Cited for: FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY. |
| [5] | "Solution structure of the SH3 domain from Rho guanine nucleotide exchange factor 9." RIKEN structural genomics initiative (RSGI) Submitted (FEB-2009) to the PDB data bank Cited for: STRUCTURE BY NMR OF 7-75. |
| [6] | "The GDP-GTP exchange factor collybistin: an essential determinant of neuronal gephyrin clustering." Harvey K., Duguid I.C., Alldred M.J., Beatty S.E., Ward H., Keep N.H., Lingenfelter S.E., Pearce B.R., Lundgren J., Owen M.J., Smart T.G., Luescher B., Rees M.I., Harvey R.J. J. Neurosci. 24:5816-5826(2004) [PubMed: 15215304] [Abstract] Cited for: VARIANT STHEE ALA-55, CHARACTERIZATION OF VARIANT STHEE ALA-55, ALTERNATIVE SPLICING. |
| + | Additional computationally mapped references. |
Web resources
Cross-references
Sequence databases | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| EMBL GenBank DDBJ | AB007884 mRNA. Translation: BAA24854.2. Different initiation. AL451106, AL355142, AL391277 Genomic DNA. Translation: CAI39550.1. AL391277, AL355142, AL451106 Genomic DNA. Translation: CAI40401.1. AL355142, AL391277, AL451106 Genomic DNA. Translation: CAI41195.1. BC117406 mRNA. Translation: AAI17407.1. | ||||||||||||
| IPI | IPI00552489. | ||||||||||||
| RefSeq | NP_001166950.1. NM_001173479.1. NP_001166951.1. NM_001173480.1. NP_056000.1. NM_015185.2. | ||||||||||||
| UniGene | Hs.54697. | ||||||||||||
3D structure databases | |||||||||||||
| PDBe RCSB PDB PDBj |
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| ProteinModelPortal | O43307. | ||||||||||||
| SMR | O43307. Positions 4-450. | ||||||||||||
| ModBase | Search... | ||||||||||||
Protein-protein interaction databases | |||||||||||||
| IntAct | O43307. 1 interaction. | ||||||||||||
| STRING | O43307. | ||||||||||||
PTM databases | |||||||||||||
| PhosphoSite | O43307. | ||||||||||||
Proteomic databases | |||||||||||||
| PRIDE | O43307. | ||||||||||||
Protocols and materials databases | |||||||||||||
| StructuralBiologyKnowledgebase | Search... | ||||||||||||
Genome annotation databases | |||||||||||||
| Ensembl | ENST00000253401; ENSP00000253401; ENSG00000131089. | ||||||||||||
| GeneID | 23229. | ||||||||||||
| KEGG | hsa:23229. | ||||||||||||
| UCSC | uc004dvl.2. human. | ||||||||||||
Organism-specific databases | |||||||||||||
| CTD | 23229. | ||||||||||||
| GeneCards | GC0XM062771. | ||||||||||||
| H-InvDB | HIX0016835. | ||||||||||||
| HGNC | HGNC:14561. ARHGEF9. | ||||||||||||
| HPA | HPA035419. | ||||||||||||
| MIM | 300429. gene. 300607. phenotype. | ||||||||||||
| neXtProt | NX_O43307. | ||||||||||||
| Orphanet | 163985. Hyperekplexia - epilepsy. | ||||||||||||
| HUGE | Search... | ||||||||||||
| GenAtlas | Search... | ||||||||||||
Phylogenomic databases | |||||||||||||
| eggNOG | prNOG07760. | ||||||||||||
| GeneTree | ENSGT00600000084023. | ||||||||||||
| HOGENOM | HBG402888. | ||||||||||||
| HOVERGEN | HBG050568. | ||||||||||||
| OrthoDB | EOG4ZPDV0. | ||||||||||||
| PhylomeDB | O43307. | ||||||||||||
Enzyme and pathway databases | |||||||||||||
| Reactome | REACT_111102. Signal Transduction. REACT_13685. Neuronal System. REACT_15518. Transmembrane transport of small molecules. | ||||||||||||
Gene expression databases | |||||||||||||
| ArrayExpress | O43307. | ||||||||||||
| Bgee | O43307. | ||||||||||||
| CleanEx | HS_ARHGEF9. | ||||||||||||
| Genevestigator | O43307. | ||||||||||||
| GermOnline | ENSG00000131089. Homo sapiens. | ||||||||||||
Family and domain databases | |||||||||||||
| InterPro | IPR000219. DH-domain. IPR011993. PH_type. IPR001849. Pleckstrin_homology. IPR011511. SH3_2. IPR001452. SH3_domain. [Graphical view] | ||||||||||||
| Gene3D | G3DSA:2.30.29.30. PH_type. 1 hit. G3DSA:1.20.900.10. RhoGEF. 1 hit. | ||||||||||||
| Pfam | PF00169. PH. 1 hit. PF00621. RhoGEF. 1 hit. PF07653. SH3_2. 1 hit. [Graphical view] | ||||||||||||
| SMART | SM00233. PH. 1 hit. SM00325. RhoGEF. 1 hit. SM00326. SH3. 1 hit. [Graphical view] | ||||||||||||
| SUPFAM | SSF48065. DH-domain. 1 hit. SSF50044. SH3. 1 hit. | ||||||||||||
| PROSITE | PS00741. DH_1. False negative. PS50010. DH_2. 1 hit. PS50003. PH_DOMAIN. 1 hit. PS50002. SH3. 1 hit. [Graphical view] | ||||||||||||
| ProtoNet | Search... | ||||||||||||
Other | |||||||||||||
| NextBio | 44841. | ||||||||||||
| SOURCE | Search... | ||||||||||||
Entry information
| Entry name | ARHG9_HUMAN | ||||||||
| Accession | Primary (citable) accession number: O43307 Secondary accession number(s): Q5JSL6 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any 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. | ||||||||
Relevant documents
| Human chromosome X Human chromosome X: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| PDB cross-references Index of Protein Data Bank (PDB) cross-references |
| SIMILARITY comments Index of protein domains and families |

Clusters with