O15013 (ARHGA_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
January 25, 2012.
Version 95.
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 10 | ||||
| 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 | 1369 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | May play a role in developmental myelination of peripheral nerves. Ref.7 |
| 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.7 |
| Sequence similarities | Contains 1 DH (DBL-homology) domain. |
| Sequence caution | The sequence AAH36809.1 differs from that shown. Reason: Probable cloning artifact. The sequence AAH40474.1 differs from that shown. Reason: Probable cloning artifact. The sequence BAA20754.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened. The sequence CAH18365.1 differs from that shown. Reason: Erroneous termination at position 895. Translated as Lys. |
Ontologies
Alternative products
| This entry describes 5 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. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 2 (identifier: O15013-6) The sequence of this isoform differs from the canonical sequence as follows: 545-545: Missing. | ||||||
| Isoform 3 (identifier: O15013-7) The sequence of this isoform differs from the canonical sequence as follows: 1-24: Missing. 307-345: Missing. | ||||||
| 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. | ||||||
| Isoform 5 (identifier: O15013-5) The sequence of this isoform differs from the canonical sequence as follows: 1-24: Missing. 185-185: Missing. |
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 | 421 – 608 | 188 | DH | ||||||
| Coiled coil | 304 – 355 | 52 | Potential | ||||||
| Compositional bias | 1271 – 1304 | 34 | Ser-rich | ||||||
Amino acid modifications | |||||||||
| Modified residue | 379 | 1 | Phosphoserine By similarity | ||||||
| Modified residue | 1284 | 1 | Phosphoserine Ref.8 | ||||||
| Modified residue | 1287 | 1 | Phosphoserine Ref.8 | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 24 | 24 | Missing in isoform 3 and isoform 5. | VSP_040754 | |||||
| Alternative sequence | 185 | 1 | Missing in isoform 5. | VSP_040755 | |||||
| Alternative sequence | 307 – 345 | 39 | Missing in isoform 3. | VSP_040756 | |||||
| Alternative sequence | 545 | 1 | Missing in isoform 2. | VSP_040757 | |||||
| Alternative sequence | 897 – 925 | 29 | Missing in isoform 4. | VSP_010704 | |||||
| Natural variant | 357 | 1 | T → I in SNCV. Ref.7 | VAR_019118 | |||||
| Natural variant | 700 | 1 | V → I. Corresponds to variant rs2294039 [ dbSNP | Ensembl ]. | VAR_038603 | |||||
| Natural variant | 725 | 1 | V → I. Corresponds to variant rs2294039 [ dbSNP | Ensembl ]. | VAR_057188 | |||||
Experimental info | |||||||||
| Sequence conflict | 395 | 1 | L → F in AAI12927. Ref.5 | ||||||
| Sequence conflict | 500 | 1 | D → V in AAH40474. Ref.5 | ||||||
| Sequence conflict | 1024 | 1 | T → S in AAB71662. Ref.6 | ||||||
| Sequence conflict | 1046 | 1 | S → T in AAB71662. Ref.6 | ||||||
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., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed: 17974005] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). 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] (ISOFORM 5). 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] | "DNA sequence and analysis of human chromosome 8." Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M., Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S., Asakawa T. Lander E.S.Nature 439:331-335(2006) [PubMed: 16421571] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [5] | "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 3). Tissue: Duodenum, Prostate and Uterus. |
| [6] | "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. |
| [7] | "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. |
| [8] | "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. Tissue: Cervix carcinoma. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | CR749570 mRNA. Translation: CAH18365.1. Different termination. AB002292 mRNA. Translation: BAA20754.2. Different initiation. AC019257 Genomic DNA. No translation available. BC036809 mRNA. Translation: AAH36809.1. Sequence problems. BC040474 mRNA. Translation: AAH40474.1. Sequence problems. BC112926 mRNA. Translation: AAI12927.1. AF009205 mRNA. Translation: AAB71662.1. |
| IPI | IPI00413517. IPI00419950. IPI00873672. IPI00979519. IPI00981196. |
| PIR | T03307. |
| RefSeq | NP_055444.2. NM_014629.2. |
| UniGene | Hs.98594. |
3D structure databases | |
| ProteinModelPortal | O15013. |
| SMR | O15013. Positions 413-709. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | O15013. 1 interaction. |
| STRING | O15013. |
PTM databases | |
| PhosphoSite | O15013. |
Proteomic databases | |
| PRIDE | O15013. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000398564; ENSP00000381571; ENSG00000104728. ENST00000520359; ENSP00000427909; ENSG00000104728. |
| GeneID | 9639. |
| KEGG | hsa:9639. |
| UCSC | uc003wpq.1. human. uc003wpv.2. human. |
Organism-specific databases | |
| CTD | 9639. |
| GeneCards | GC08P001778. |
| HGNC | HGNC:14103. ARHGEF10. |
| HPA | HPA024649. |
| MIM | 608136. gene. 608236. phenotype. |
| neXtProt | NX_O15013. |
| HUGE | Search... |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | prNOG05187. |
| GeneTree | ENSGT00600000084097. |
| HOGENOM | HBG402923. |
| HOVERGEN | HBG050570. |
| InParanoid | O15013. |
| OMA | ILKKTCA. |
| PhylomeDB | O15013. |
Gene expression databases | |
| ArrayExpress | O15013. |
| Bgee | O15013. |
| CleanEx | HS_ARHGEF10. |
| Genevestigator | O15013. |
| GermOnline | ENSG00000104728. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR000219. DH-domain. IPR015943. WD40/YVTN_repeat-like_dom. IPR011046. WD40_repeat-like_dom. [Graphical view] |
| Gene3D | G3DSA:1.20.900.10. RhoGEF. 1 hit. G3DSA:2.130.10.10. WD40/YVTN_repeat-like. 1 hit. |
| Pfam | PF00621. RhoGEF. 1 hit. [Graphical view] |
| SMART | SM00325. RhoGEF. 1 hit. [Graphical view] |
| SUPFAM | SSF48065. DH-domain. 1 hit. SSF50978. WD40_like. 1 hit. |
| PROSITE | PS00741. DH_1. False negative. PS50010. DH_2. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| NextBio | 36183. |
| SOURCE | Search... |
Entry information
| Entry name | ARHGA_HUMAN | ||||||||
| Accession | Primary (citable) accession number: O15013 Secondary accession number(s): O14665 Q8IY77 | ||||||||
| 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 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 |

Clusters with