Q8TER5 (ARH40_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
January 25, 2012.
Version 61.
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 40 Alternative name(s): Protein SOLO | ||||
| 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 | 1519 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | May act as a guanine nucleotide exchange factor (GEF) By similarity. |
| Subcellular location | Cytoplasm. Note: Concentrated in the perinuclear region. Ref.5 |
| Tissue specificity | Expressed at higher level in the central nervous system and skeletal muscle and greater abundance in fetal than adult brain (at protein level). Ref.5 |
| Sequence similarities | Contains 1 DH (DBL-homology) domain. Contains 1 PH domain. |
| Sequence caution | The sequence BAA91563.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended. The sequence BAB15753.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened. The sequence BAB84883.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Cytoplasm |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | Coiled coil |
| Molecular function | Guanine-nucleotide releasing factor |
| PTM | Phosphoprotein |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological process | regulation of Rho protein signal transduction Inferred from electronic annotation. Source: InterPro |
| Cellular component | cytoplasm Inferred from electronic annotation. Source: UniProtKB-SubCell |
| 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: Q8TER5-1) 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: Q8TER5-2) The sequence of this isoform differs from the canonical sequence as follows: 1-714: Missing. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 3 (identifier: Q8TER5-3) The sequence of this isoform differs from the canonical sequence as follows: 1415-1519: AARTRASVAV...RALSDPTTPL → GEGQGAGGWP...HPGLRGRVIL | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 4 (identifier: Q8TER5-4) The sequence of this isoform differs from the canonical sequence as follows: 1415-1462: Missing. | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 1519 | 1519 | Rho guanine nucleotide exchange factor 40 | PRO_0000314822 | |||||
Regions | |||||||||
| Domain | 1085 – 1253 | 169 | DH | ||||||
| Domain | 1265 – 1372 | 108 | PH | ||||||
| Coiled coil | 828 – 871 | 44 | Potential | ||||||
| Coiled coil | 934 – 961 | 28 | Potential | ||||||
| Compositional bias | 276 – 395 | 120 | Gly-rich | ||||||
| Compositional bias | 706 – 711 | 6 | Poly-Glu | ||||||
| Compositional bias | 966 – 969 | 4 | Poly-Arg | ||||||
Amino acid modifications | |||||||||
| Modified residue | 262 | 1 | Phosphoserine Ref.7 Ref.8 | ||||||
| Modified residue | 371 | 1 | Phosphothreonine Ref.7 | ||||||
| Modified residue | 931 | 1 | Phosphoserine Ref.6 | ||||||
| Modified residue | 961 | 1 | Phosphoserine Ref.8 | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 714 | 714 | Missing in isoform 2. | VSP_030381 | |||||
| Alternative sequence | 1415 – 1519 | 105 | AARTR…PTTPL → GEGQGAGGWPPGVKTLTMRI QRGGMVESQERHLVPKSVGL AGRPSVRLRVIPGSQEGFPT PAPHPPLPTLCSRPHPGLRG RVIL in isoform 3. | VSP_030382 | |||||
| Alternative sequence | 1415 – 1462 | 48 | Missing in isoform 4. | VSP_030383 | |||||
| Natural variant | 956 | 1 | V → L. Ref.1 Ref.4 Corresponds to variant rs7143633 [ dbSNP | Ensembl ]. | VAR_038061 | |||||
| Natural variant | 1189 | 1 | L → S. Ref.1 Ref.3 Ref.4 Corresponds to variant rs1958396 [ dbSNP | Ensembl ]. | VAR_038062 | |||||
| Natural variant | 1312 | 1 | M → T. Corresponds to variant rs943992 [ dbSNP | Ensembl ]. | VAR_038063 | |||||
| Natural variant | 1418 | 1 | T → P. Ref.3 Corresponds to variant rs17855344 [ dbSNP | Ensembl ]. | VAR_060541 | |||||
Experimental info | |||||||||
| Sequence conflict | 293 | 1 | K → E in BAB15753. Ref.1 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "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: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1172-1519 (ISOFORM 4), VARIANTS LEU-956 AND SER-1189. Tissue: Spleen and Teratocarcinoma. |
| [2] | "The DNA sequence and analysis of human chromosome 14." Heilig R., Eckenberg R., Petit J.-L., Fonknechten N., Da Silva C., Cattolico L., Levy M., Barbe V., De Berardinis V., Ureta-Vidal A., Pelletier E., Vico V., Anthouard V., Rowen L., Madan A., Qin S., Sun H., Du H. Weissenbach J.Nature 421:601-607(2003) [PubMed: 12508121] [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] (ISOFORM 2), VARIANTS SER-1189 AND PRO-1418. Tissue: Kidney. |
| [4] | "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] OF 841-1519 (ISOFORM 3), VARIANTS LEU-956 AND SER-1189. Tissue: Testis. |
| [5] | "Identification, expression analysis, genomic organization and cellular location of a novel protein with a RhoGEF domain." Tse S.-W., Broderick J.A., Wei M.-L., Luo M.-H., Smith D., McCaffery P., Stamm S., Andreadis A. Gene 359:63-72(2005) [PubMed: 16143467] [Abstract] Cited for: SUBCELLULAR LOCATION, TISSUE SPECIFICITY. |
| [6] | "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-931, MASS SPECTROMETRY. Tissue: Cervix carcinoma. |
| [7] | "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach." Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S. Anal. Chem. 81:4493-4501(2009) [PubMed: 19413330] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-262 AND THR-371, MASS SPECTROMETRY. Tissue: Embryonic kidney. |
| [8] | "Large-scale proteomics analysis of the human kinome." Oppermann F.S., Gnad F., Olsen J.V., Hornberger R., Greff Z., Keri G., Mann M., Daub H. Mol. Cell. Proteomics 8:1751-1764(2009) [PubMed: 19369195] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-262 AND SER-961, MASS SPECTROMETRY. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AK001219 mRNA. Translation: BAA91563.1. Different initiation. AK024463 mRNA. Translation: BAB15753.1. Different initiation. AK074057 mRNA. Translation: BAB84883.1. Different initiation. AL161668 Genomic DNA. No translation available. BC000084 mRNA. Translation: AAH00084.4. BC142692 mRNA. Translation: AAI42693.1. AL137291 mRNA. Translation: CAB70682.1. |
| IPI | IPI00018134. IPI00790107. IPI00878303. IPI00878685. |
| PIR | T46359. |
| RefSeq | NP_060541.3. NM_018071.3. |
| UniGene | Hs.35125. |
3D structure databases | |
| HSSP | HSSP built from PDB template 1RJ2 based on UniProtKB Q63406. |
| ProteinModelPortal | Q8TER5. |
| SMR | Q8TER5. Positions 1077-1375. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q8TER5. 3 interactions. |
| MINT | MINT-1409884. |
PTM databases | |
| PhosphoSite | Q8TER5. |
Polymorphism databases | |
| DMDM | 296452953. |
Proteomic databases | |
| PRIDE | Q8TER5. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000298694; ENSP00000298694; ENSG00000165801. |
| GeneID | 55701. |
| KEGG | hsa:55701. |
| UCSC | uc001vzo.1. human. uc001vzp.1. human. |
Organism-specific databases | |
| CTD | 55701. |
| GeneCards | GC14P021539. |
| H-InvDB | HIX0001353. HIX0011501. |
| HGNC | HGNC:25516. ARHGEF40. |
| HPA | HPA030746. HPA030757. |
| MIM | 610018. gene. |
| neXtProt | NX_Q8TER5. |
| GenAtlas | Search... |
Phylogenomic databases | |
| GeneTree | ENSGT00560000077135. |
| HOGENOM | HBG282401. |
| HOVERGEN | HBG108500. |
| InParanoid | Q8TER5. |
| OMA | RMERKRS. |
| OrthoDB | EOG4J117G. |
| PhylomeDB | Q8TER5. |
Gene expression databases | |
| ArrayExpress | Q8TER5. |
| Bgee | Q8TER5. |
| Genevestigator | Q8TER5. |
Family and domain databases | |
| InterPro | IPR000219. DH-domain. IPR011993. PH_type. IPR001849. Pleckstrin_homology. [Graphical view] |
| Gene3D | G3DSA:2.30.29.30. PH_type. 1 hit. G3DSA:1.20.900.10. RhoGEF. 1 hit. |
| Pfam | PF00621. RhoGEF. 1 hit. [Graphical view] |
| SMART | SM00233. PH. 1 hit. [Graphical view] |
| SUPFAM | SSF48065. DH-domain. 1 hit. |
| PROSITE | PS00741. DH_1. False negative. PS50010. DH_2. 1 hit. PS50003. PH_DOMAIN. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| NextBio | 60542. |
| SOURCE | Search... |
Entry information
| Entry name | ARH40_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q8TER5 Secondary accession number(s): A5PL07 Q9NW24 | ||||||||
| 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 14 Human chromosome 14: 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