Q9NR81 (ARHG3_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 103.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Rho guanine nucleotide exchange factor 3 Alternative name(s): Exchange factor found in platelets and leukemic and neuronal tissues Short name=XPLN | ||
| Gene names |
| ||
| Organism | Homo sapiens (Human) [Reference proteome] | ||
| Taxonomic identifier | 9606 [NCBI] | ||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 526 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at transcript level |
General annotation (Comments)
| Function | Acts as guanine nucleotide exchange factor (GEF) for RhoA and RhoB GTPases. Ref.8 |
| Subunit structure | Interacts with RHOA and RHOB. |
| Subcellular location | Cytoplasm By similarity. |
| Tissue specificity | Widely expressed. Highest levels are found in adult brain and skeletal muscle. Lower levels are found in heart and kidney. Ref.1 Ref.8 |
| Sequence similarities | Contains 1 DH (DBL-homology) domain. Contains 1 PH domain. |
| Sequence caution | The sequence AAH68513.1 differs from that shown. Reason: Erroneous initiation. The sequence BAB14891.1 differs from that shown. Reason: Erroneous initiation. The sequence BAD92898.1 differs from that shown. Reason: Erroneous initiation. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Cytoplasm |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Molecular function | Guanine-nucleotide releasing factor |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological_process | Rho protein signal transduction Traceable author statement Ref.1. Source: ProtInc apoptotic processTraceable author statement. Source: Reactome nerve growth factor receptor signaling pathwayTraceable author statement. Source: Reactome regulation of Rho protein signal transductionInferred from electronic annotation. Source: InterPro regulation of small GTPase mediated signal transductionTraceable author statement. Source: Reactome |
| Cellular_component | cytosol Traceable author statement. Source: Reactome |
| Molecular_function | Rho guanyl-nucleotide exchange factor activity Traceable author statement Ref.1. Source: ProtInc phospholipid bindingInferred from electronic annotation. Source: InterPro |
| Complete GO annotation... | |
Alternative products
| This entry describes 4 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q9NR81-1) 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. | ||||||
| Isoform 2 (identifier: Q9NR81-2) The sequence of this isoform differs from the canonical sequence as follows: 1-32: MVAKDYPFYLTVKRANCSLELPPASGPAKDAE → MDSSTAMNQC...AVSLCSLDIS | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 3 (identifier: Q9NR81-3) The sequence of this isoform differs from the canonical sequence as follows: 1-32: MVAKDYPFYLTVKRANCSLELPPASGPAKDAE → MIEVCHHNWLLWLCPSKFGIFMCCLASTTGQMELRRTR | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 4 (identifier: Q9NR81-4) The sequence of this isoform differs from the canonical sequence as follows: 1-202: Missing. 203-204: GW → MK | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 526 | 526 | Rho guanine nucleotide exchange factor 3 | PRO_0000080911 | |||||
Regions | |||||||||
| Domain | 122 – 304 | 183 | DH | ||||||
| Domain | 291 – 449 | 159 | PH | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 202 | 202 | Missing in isoform 4. | VSP_027204 | |||||
| Alternative sequence | 1 – 32 | 32 | MVAKD…AKDAE → MDSSTAMNQCSCRGMEENKE RPKRQRQNNFPMFPSPKAWN FRGRKRKQSTQDEDAVSLCS LDIS in isoform 2. | VSP_011612 | |||||
| Alternative sequence | 1 – 32 | 32 | MVAKD…AKDAE → MIEVCHHNWLLWLCPSKFGI FMCCLASTTGQMELRRTR in isoform 3. | VSP_027205 | |||||
| Alternative sequence | 203 – 204 | 2 | GW → MK in isoform 4. | VSP_027206 | |||||
| Natural variant | 13 | 1 | K → R. Corresponds to variant rs3732507 [ dbSNP | Ensembl ]. | VAR_021935 | |||||
| Natural variant | 335 | 1 | L → V. Ref.3 Ref.4 Ref.6 Ref.7 Corresponds to variant rs3772219 [ dbSNP | Ensembl ]. | VAR_021936 | |||||
Experimental info | |||||||||
| Sequence conflict | 410 | 1 | I → T in AAP97313. Ref.3 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Isolation of two novel human RhoGEFs, ARHGEF3 and ARHGEF4, in 3p13-21 and 2q22." Thiesen S., Kuebart S., Ropers H.-H., Nothwang H.G. Biochem. Biophys. Res. Commun. 273:364-369(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY. |
| [2] | "Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs." Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S., Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J., Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W., Ottenwaelder B., Obermaier B. Poustka A.Genome Res. 11:422-435(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Testis. |
| [3] | Guo J.H., Yu L. Submitted (OCT-2001) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANT VAL-335. |
| [4] | "Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 71-526 (ISOFORMS 1/2/3), VARIANT VAL-335. Tissue: Brain and Placenta. |
| [5] | Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S., Ohara O., Nagase T., Kikuno R.F. Submitted (MAR-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3). Tissue: Brain. |
| [6] | Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. Venter J.C.Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT VAL-335. |
| [7] | "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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 4), VARIANT VAL-335. Tissue: Hippocampus and Uterus. |
| [8] | "XPLN, a guanine nucleotide exchange factor for RhoA and RhoB, but not RhoC." Arthur W.T., Ellerbroek S.M., Der C.J., Burridge K., Wennerberg K. J. Biol. Chem. 277:42964-42972(2002) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, TISSUE SPECIFICITY. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AF249744 mRNA. Translation: AAF79954.1. AL136832 mRNA. Translation: CAB66766.1. AF433662 mRNA. Translation: AAP97313.1. AK024340 mRNA. Translation: BAB14891.1. Different initiation. AK291412 mRNA. Translation: BAF84101.1. AB209661 mRNA. Translation: BAD92898.1. Different initiation. CH471055 Genomic DNA. Translation: EAW65326.1. BC054345 mRNA. Translation: AAH54345.2. BC068513 mRNA. Translation: AAH68513.1. Different initiation. BC098122 mRNA. Translation: AAH98122.2. BC098272 mRNA. Translation: AAH98272.2. BC099715 mRNA. Translation: AAH99715.1. BC104723 mRNA. Translation: AAI04724.2. |
| IPI | IPI00020949. IPI00385169. IPI00854602. IPI00945383. |
| RefSeq | NP_001122087.1. NM_001128615.1. NP_001122088.1. NM_001128616.1. NP_062455.1. NM_019555.2. |
| UniGene | Hs.476402. |
3D structure databases | |
| ProteinModelPortal | Q9NR81. |
| ModBase | Search... |
PTM databases | |
| PhosphoSite | Q9NR81. |
Polymorphism databases | |
| DMDM | 52782760. |
Proteomic databases | |
| PaxDb | Q9NR81. |
| PRIDE | Q9NR81. |
Protocols and materials databases | |
| DNASU | 50650. |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000296315; ENSP00000296315; ENSG00000163947. ENST00000338458; ENSP00000341071; ENSG00000163947. ENST00000413728; ENSP00000410922; ENSG00000163947. |
| GeneID | 50650. |
| KEGG | hsa:50650. |
| UCSC | uc003dif.2. human. uc003dig.2. human. uc003dih.2. human. uc010hmy.1. human. |
Organism-specific databases | |
| CTD | 50650. |
| GeneCards | GC03M056736. |
| HGNC | HGNC:683. ARHGEF3. |
| HPA | HPA034715. |
| MIM | 612115. gene. |
| neXtProt | NX_Q9NR81. |
| PharmGKB | PA24973. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | COG5422. |
| HOVERGEN | HBG050567. |
| OMA | TKLEQMD. |
Enzyme and pathway databases | |
| Reactome | REACT_111102. Signal Transduction. |
Gene expression databases | |
| ArrayExpress | Q9NR81. |
| Bgee | Q9NR81. |
| CleanEx | HS_ARHGEF3. |
| Genevestigator | Q9NR81. |
| GermOnline | ENSG00000163947. Homo sapiens. |
Family and domain databases | |
| Gene3D | 1.20.900.10. 1 hit. 2.30.29.30. 1 hit. |
| InterPro | IPR000219. DH-domain. IPR001331. GDS_CDC24_CS. IPR011993. PH_like_dom. IPR001849. Pleckstrin_homology. IPR015721. RhoGEF-like. [Graphical view] |
| PANTHER | PTHR22825. PTHR22825. 1 hit. |
| Pfam | PF00621. RhoGEF. 1 hit. [Graphical view] |
| SMART | SM00233. PH. 1 hit. SM00325. RhoGEF. 1 hit. [Graphical view] |
| SUPFAM | SSF48065. DH-domain. 1 hit. |
| PROSITE | PS00741. DH_1. 1 hit. PS50010. DH_2. 1 hit. PS50003. PH_DOMAIN. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| ChiTaRS | ARHGEF3. human. |
| GenomeRNAi | 50650. |
| NextBio | 53200. |
| SOURCE | Search... |
Entry information
| Entry name | ARHG3_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q9NR81 Secondary accession number(s): A8K5U7 Q9H7T4 | ||||||||
| Entry history |
| ||||||||
| 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 3 Human chromosome 3: 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 |
| SIMILARITY comments Index of protein domains and families |

Clusters with
