Reviewed,
UniProtKB/Swiss-Prot Q8IZD9 (DOCK3_HUMAN)
Last modified
October 13, 2009.
Version 58.
History...
Clusters with 100%,
90%,
50% identity |
Documents (3) |
Third-party data |
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Names and origin
| Protein names | Recommended name: Dedicator of cytokinesis protein 3 Alternative name(s): Modifier of cell adhesion Presenilin-binding protein Short name=PBP | ||||
| Gene names |
| ||||
| Organism | Homo sapiens (Human) [Complete 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 | 2030 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is not processed. |
| Protein existence | Evidence at protein level. |
General annotation (Comments)
| Function | Potential guanine nucleotide exchange factor (GEF). GEF proteins activate some small GTPases by exchanging bound GDP for free GTP. Its interaction with presenilin proteins as well as its ability to stimulate Tau/MAPT phosphorylation suggest that it may be involved in Alzheimer disease. Ectopic expression in nerve cells decreases the secretion of beta-amyloid APBA1 protein and lowers the rate of cell-substratum adhesion, suggesting that it may affect the function of some small GTPase involved in the regulation of actin cytoskeleton or cell adhesion receptors By similarity. |
| Subunit structure | Interacts with presenilin proteins PSEN1 and PSEN2. Interacts with CRK By similarity. |
| Subcellular location | Cytoplasm By similarity. |
| Tissue specificity | In normal brains, it is localized in the neuropil, and occasionally in the pyramidal cells, while in Alzheimer disease brains, it is associated with neurofibrillary tangles. Ref.4 |
| Domain | The DHR-2 domain may mediate some GEF activity By similarity. |
| Involvement in disease | A chromosomal aberration involving DOCK3 may be a cause of early-onset behavioral/developmental disorder with features of attention deficit-hyperactivity disorder and intellectual disability (ADHD) [MIM:143465]. Inversion inv3(p14:q21). The inversion disrupts DOCK3 and SLC9A9. Ref.2 |
| Sequence similarities | Belongs to the DOCK family. Contains 1 DHR-1 (CZH-1) domain. Contains 1 DHR-2 (CZH-2) domain. Contains 1 SH3 domain. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Cytoplasm |
| Coding sequence diversity | Chromosomal rearrangement |
| Domain | SH3 domain SH3-binding |
| Molecular function | Guanine-nucleotide releasing factor |
| PTM | Phosphoprotein |
| Technical term | Complete proteome |
| Gene Ontology (GO) | |
| Cellular component | cytoplasm Inferred from electronic annotation. Source: UniProtKB-SubCell |
| Molecular function | GTP binding Inferred from electronic annotation. Source: InterPro GTPase bindingInferred from electronic annotation. Source: InterPro SH3 domain bindingInferred from electronic annotation. Source: UniProtKB-KW guanyl-nucleotide exchange factor activityInferred from electronic annotation. Source: UniProtKB-KW |
| Complete GO annotation... | |
Binary interactions
With | Entry | #Exp. | IntAct | Notes |
|---|---|---|---|---|
| ABL1 | P00519 | 1 | EBI-1752361,EBI-375543 | |
| CRK | P46108 | 1 | EBI-1752361,EBI-886 | |
| FYN | P06241 | 1 | EBI-1752361,EBI-515315 | |
| GRB2 | P62993 | 1 | EBI-1752361,EBI-401755 | |
| NCK1 | P16333 | 1 | EBI-1752361,EBI-389883 | |
| PIK3R1 | P27986 | 1 | EBI-1752361,EBI-79464 | |
| SRC | P12931 | 1 | EBI-1752361,EBI-621482 |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 2030 | 2030 | Dedicator of cytokinesis protein 3 | PRO_0000189988 | |||||
Regions | |||||||||
| Domain | 6 – 67 | 62 | SH3 | ||||||
| Domain | 418 – 654 | 237 | DHR-1 | ||||||
| Domain | 1122 – 1630 | 509 | DHR-2 | ||||||
| Motif | 1970 – 1976 | 7 | SH3-binding Potential | ||||||
| Compositional bias | 1731 – 1768 | 38 | Ser-rich | ||||||
Amino acid modifications | |||||||||
| Modified residue | 2013 | 1 | Phosphoserine By similarity | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Isolation and characterization of novel presenilin binding protein." Kashiwa A., Yoshida H., Lee S., Paladino T., Liu Y., Chen Q., Dargusch R., Schubert D., Kimura H. J. Neurochem. 75:109-116(2000) [PubMed: 10854253] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. |
| [2] | "Disruption of a novel member of a sodium/hydrogen exchanger family and DOCK3 is associated with an attention deficit hyperactivity disorder-like phenotype." De Silva M.G., Elliott K., Dahl H.-H.M., Fitzpatrick E., Wilcox S., Delatycki M., Williamson R., Efron D., Lynch M., Forrest S. J. Med. Genet. 40:733-740(2003) [PubMed: 14569117] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], DISEASE. |
| [3] | "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 124-2030. Tissue: Brain. |
| [4] | "Presenilin binding protein is associated with neurofibrillary alterations in Alzheimer's disease and stimulates tau phosphorylation." Chen Q., Yoshida H., Schubert D., Maher P., Mallory M., Masliah E. Am. J. Pathol. 159:1597-1602(2001) [PubMed: 11696419] [Abstract] Cited for: TISSUE SPECIFICITY. |
| [5] | "Identification of an evolutionarily conserved superfamily of DOCK180-related proteins with guanine nucleotide exchange activity." Cote J.-F., Vuori K. J. Cell Sci. 115:4901-4913(2002) [PubMed: 12432077] [Abstract] Cited for: NOMENCLATURE. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| AY145303 mRNA. Translation: AAN12301.1. AY254099 mRNA. Translation: AAP80572.1. AB002297 mRNA. Translation: BAA20759.1. | |
| IPI | IPI00217985. |
| RefSeq | NP_004938.1. |
| UniGene | Hs.476284 |
3D structure databases | |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q8IZD9. 8 interactions. |
| STRING | Q8IZD9. |
Proteomic databases | |
| PRIDE | Q8IZD9. |
Genome annotation databases | |
| Ensembl | ENST00000266037; ENSP00000266037; ENSG00000088538; Homo sapiens. [Genome view] ENST00000402669; ENSP00000385673; ENSG00000088538; Homo sapiens. [Genome view] |
| GeneID | 1795. |
| KEGG | hsa:1795. |
Organism-specific databases | |
| CTD | 1795. |
| GeneCards | GC03P050687. |
| H-InvDB | HIX0003327. |
| HGNC | HGNC:2989. DOCK3. |
| MIM | 143465. phenotype. 603123. gene. |
| PharmGKB | PA27455. |
| HUGE | Search... |
| GenAtlas | Search... |
Phylogenomic databases | |
| HOGENOM | Q8IZD9. |
| HOVERGEN | Q8IZD9. |
Gene expression databases | |
| ArrayExpress | Q8IZD9. |
| Bgee | Q8IZD9. |
| CleanEx | HS_DOCK3. |
| Genevestigator | Q8IZD9. |
Family and domain databases | |
| InterPro | IPR010703. DOCK. IPR011511. SH3_2. IPR001452. SH3_domain. [Graphical view] |
| Pfam | PF06920. Ded_cyto. 1 hit. PF07653. SH3_2. 1 hit. [Graphical view] |
| ProDom | PD000066. SH3. 1 hit. [Graphical view] [Entries sharing at least one domain] |
| SMART | SM00326. SH3. 1 hit. [Graphical view] |
| PROSITE | PS50002. SH3. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other Resources | |
| NextBio | 7313. |
| SOURCE | Search... |
Entry information
| Entry name | DOCK3_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q8IZD9 Secondary accession number(s): O15017 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
| 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 |
| 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


