Reviewed,
UniProtKB/Swiss-Prot O15013 (ARHGA_HUMAN)
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June 16, 2009.
Version 69.
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Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Alternative products · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents
Names and origin
| Protein names | Recommended name: Rho guanine nucleotide exchange factor 10 | ||||
| Gene names |
| ||||
| 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 | 1369 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is not processed. |
| Protein existence | Evidence at protein level. |
General annotation (Comments)
| Function | May play a role in developmental myelination of peripheral nerves. Ref.6 |
| Involvement in disease | Defects in ARHGEF10 are the cause of slowed nerve conduction velocity (SNCV) [MIM:608236]. Affected individuals present a reduction in nerve conduction velocities without any clinical signs of peripheral or central nervous system dysfunction. SNCV inheritance is autosomal dominant. Ref.6 |
| Sequence similarities | Contains 1 DH (DBL-homology) domain. |
| Sequence caution | The sequence BAA20754.2 differs from that shown. Reason: Miscellaneous discrepancy. Cloning artifact. The sequence CAH18365.1 differs from that shown. Reason: Erroneous termination at position 895. Translated as Lys. |
Ontologies
| Keywords | |
|---|---|
| Coding sequence diversity | Alternative splicing Polymorphism |
| Disease | Disease mutation |
| Domain | Coiled coil |
| Molecular function | Guanine-nucleotide releasing factor |
| PTM | Phosphoprotein |
| Gene Ontology (GO) | |
| Biological process | regulation of Rho protein signal transduction Inferred from electronic annotation. Source: InterPro |
| Cellular component | intracellular Inferred from electronic annotation. Source: InterPro |
| Molecular function | Rho guanyl-nucleotide exchange factor activity Inferred from electronic annotation. Source: InterPro |
| Complete GO annotation... | |
Alternative products
| This entry describes 4 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: O15013-1) 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: O15013-2) The sequence of this isoform differs from the canonical sequence as follows: 1-248: Missing. 249-251: SEP → MHS 307-345: Missing. 925-948: IGSCTHQMGQIAIVSFQNSTPKVI → VRCVYLVLVQVHRESTFMVGVMRD 949-1369: Missing. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 3 (identifier: O15013-3) The sequence of this isoform differs from the canonical sequence as follows: 307-345: Missing. 633-649: LLSSGSRYLIRSDDMIE → VERGFLQLYSKIIFALC 650-1369: Missing. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 4 (identifier: O15013-4) The sequence of this isoform differs from the canonical sequence as follows: 897-925: Missing. | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 1369 | 1369 | Rho guanine nucleotide exchange factor 10 | PRO_0000080926 | |||||
Regions | |||||||||
| Domain | 191 – 378 | 188 | DH | ||||||
| Coiled coil | 75 – 95 | 21 | Potential | ||||||
| Coiled coil | 104 – 124 | 21 | Potential | ||||||
| Coiled coil | 360 – 394 | 35 | Potential | ||||||
| Compositional bias | 1041 – 1074 | 34 | Ser-rich | ||||||
Amino acid modifications | |||||||||
| Modified residue | 1284 | 1 | Phosphoserine Ref.7 | ||||||
| Modified residue | 1287 | 1 | Phosphoserine Ref.7 | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 248 | 248 | Missing in isoform 2. | VSP_019389 | |||||
| Alternative sequence | 249 – 251 | 3 | SEP → MHS in isoform 2. | VSP_010700 | |||||
| Alternative sequence | 307 – 345 | 39 | Missing in isoform 2 and isoform 3. | VSP_010701 | |||||
| Alternative sequence | 633 – 649 | 17 | LLSSG…DDMIE → VERGFLQLYSKIIFALC in isoform 3. | VSP_010702 | |||||
| Alternative sequence | 650 – 1369 | 720 | Missing in isoform 3. | VSP_010703 | |||||
| Alternative sequence | 897 – 925 | 29 | Missing in isoform 4. | VSP_010704 | |||||
| Alternative sequence | 925 – 948 | 24 | IGSCT…TPKVI → VRCVYLVLVQVHRESTFMVG VMRD in isoform 2. | VSP_010705 | |||||
| Alternative sequence | 949 – 1369 | 421 | Missing in isoform 2. | VSP_010706 | |||||
| Natural variant | 357 | 1 | T → I in SNCV. Ref.6 | VAR_019118 | |||||
| Natural variant | 700 | 1 | V → I: dbSNP rs2294039. | VAR_038603 | |||||
| Natural variant | 725 | 1 | V → I: dbSNP rs2294039. | VAR_057188 | |||||
Experimental info | |||||||||
| Sequence conflict | 185 | 1 | Missing in BAA20754. Ref.2 | ||||||
| Sequence conflict | 500 | 1 | D → V in AAH40474. Ref.4 | ||||||
| Sequence conflict | 545 | 1 | Missing in CAH18365. Ref.1 | ||||||
| Sequence conflict | 857 | 1 | Missing in AAH36809. Ref.4 | ||||||
| Sequence conflict | 1024 | 1 | T → S in AAB71662. Ref.5 | ||||||
| Sequence conflict | 1046 | 1 | S → T in AAB71662. Ref.5 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Blocker H., Heubner D., Hoerlein A., Michel G., Wedler H., Kohrer K., Ottenwalder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed: 17974005] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Testis. |
| [2] | "Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro." Nagase T., Ishikawa K., Nakajima D., Ohira M., Seki N., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O. DNA Res. 4:141-150(1997) [PubMed: 9205841] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 10-1369 (ISOFORM 1). Tissue: Brain. |
| [3] | "Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones." Nakajima D., Okazaki N., Yamakawa H., Kikuno R., Ohara O., Nagase T. DNA Res. 9:99-106(2002) [PubMed: 12168954] [Abstract] Cited for: SEQUENCE REVISION. |
| [4] | "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] (ISOFORM 2), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 89-1369 (ISOFORM 3). Tissue: Duodenum and Prostate. |
| [5] | "High-resolution mapping and transcript identification at the progressive epilepsy with mental retardation locus on chromosome 8p." Ranta S., Lehesjoki A.-E., de Fatima Bonaldo M., Knowles J.A., Hirvasniemi A., Ross B., de Jong P.J., Soares M.B., de la Chapelle A., Gilliam T.C. Genome Res. 7:887-896(1997) [PubMed: 9314494] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 353-1369 (ISOFORM 4). Tissue: Brain. |
| [6] | "Slowed conduction and thin myelination of peripheral nerves associated with mutant rho Guanine-nucleotide exchange factor 10." Verhoeven K., De Jonghe P., Van de Putte T., Nelis E., Zwijsen A., Verpoorten N., De Vriendt E., Jacobs A., Van Gerwen V., Francis A., Ceuterick C., Huylebroeck D., Timmerman V. Am. J. Hum. Genet. 73:926-932(2003) [PubMed: 14508709] [Abstract] Cited for: FUNCTION, VARIANT SNCV ILE-357. |
| [7] | "A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed: 18669648] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1284 AND SER-1287, MASS SPECTROMETRY. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| CR749570 mRNA. Translation: CAH18365.1. Different termination. AB002292 mRNA. Translation: BAA20754.2. Sequence problems. BC036809 mRNA. Translation: AAH36809.1. BC040474 mRNA. Translation: AAH40474.1. Sequence problems. AF009205 mRNA. Translation: AAB71662.1. | |
| IPI | IPI00413517. IPI00414886. IPI00419949. IPI00419950. |
| PIR | T03307. |
| RefSeq | NP_055444.2. |
| UniGene | Hs.98594 |
3D structure databases | |
| ModBase | Search... |
PTM databases | |
| PhosphoSite | O15013. |
Proteomic databases | |
| PRIDE | O15013. |
Genome annotation databases | |
| Ensembl | ENSG00000104728. Homo sapiens. [Contig view] |
| GeneID | 9639. |
| KEGG | hsa:9639. |
Organism-specific databases | |
| GeneCards | GC08P001778. |
| HGNC | HGNC:14103. ARHGEF10. |
| MIM | 608136. gene. 608236. phenotype. |
| PharmGKB | PA24967. |
| HUGE | Search... |
| GenAtlas | Search... |
Phylogenomic databases | |
| HOGENOM | O15013. |
| HOVERGEN | O15013. |
| OMA | O15013. SQRYLLK. |
Gene expression databases | |
| ArrayExpress | O15013. |
| Bgee | O15013. |
| CleanEx | HS_ARHGEF10. |
| GermOnline | ENSG00000104728. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR000219. DH-domain. IPR001331. GDS_CDC24_CS. [Graphical view] |
| Gene3D | G3DSA:1.20.900.10. RhoGEF. 1 hit. |
| Pfam | PF00621. RhoGEF. 1 hit. [Graphical view] |
| SMART | SM00325. RhoGEF. 1 hit. [Graphical view] |
| PROSITE | PS00741. DH_1. False negative. PS50010. DH_2. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other Resources | |
| NextBio | 36183. |
| SOURCE | Search... |
Entry information
| Entry name | ARHGA_HUMAN | ||||||||
| Accession | Primary (citable) accession number: O15013 Secondary accession number(s): O14665  Q8IY77 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
Relevant documents
| Human chromosome 8 Human chromosome 8: 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 |
