Version 5.4
| Homo sapiens Protein: ABI1 | |||||||||||||||||||||||
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| Summary | |||||||||||||||||||||||
| InnateDB Protein | IDBP-63985.6 | ||||||||||||||||||||||
| Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||
| Gene Symbol | ABI1 | ||||||||||||||||||||||
| Protein Name | abl-interactor 1 | ||||||||||||||||||||||
| Synonyms | ABI-1; ABLBP4; E3B1; NAP1BP; SSH3BP; SSH3BP1; | ||||||||||||||||||||||
| Species | Homo sapiens | ||||||||||||||||||||||
| Ensembl Protein | ENSP00000365330 | ||||||||||||||||||||||
| InnateDB Gene | IDBG-63979 (ABI1) | ||||||||||||||||||||||
| Protein Structure |
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| UniProt Annotation | |||||||||||||||||||||||
| Function | May act in negative regulation of cell growth and transformation by interacting with nonreceptor tyrosine kinases ABL1 and/or ABL2. May play a role in regulation of EGF-induced Erk pathway activation. Involved in cytoskeletal reorganization and EGFR signaling. Together with EPS8 participates in transduction of signals from Ras to Rac. In vitro, a trimeric complex of ABI1, EPS8 and SOS1 exhibits Rac specific guanine nucleotide exchange factor (GEF) activity and ABI1 seems to act as an adapter in the complex. Regulates ABL1/c-Abl-mediated phosphorylation of ENAH. Recruits WASF1 to lamellipodia and there seems to regulate WASF1 protein level. In brain, seems to regulate the dendritic outgrowth and branching as well as to determine the shape and number of synaptic contacts of developing neurons. {ECO:0000269PubMed:11003655, ECO:0000269PubMed:18328268}. | ||||||||||||||||||||||
| Subcellular Localization | Cytoplasm {ECO:0000250}. Nucleus {ECO:0000250}. Cell projection, lamellipodium {ECO:0000250}. Cell projection, filopodium {ECO:0000250}. Cell projection, growth cone {ECO:0000250}. Cell junction, synapse, postsynaptic cell membrane, postsynaptic density {ECO:0000250}. Cytoplasm, cytoskeleton {ECO:0000250}. Note=Localized to protruding lamellipodia and filopodia tips. Also localized to neuronal growth cones and synaptosomes. May shuttle from the postsynaptic densities to the nucleus (By similarity). {ECO:0000250}. | ||||||||||||||||||||||
| Disease Associations | Note=A chromosomal aberration involving ABI1 is a cause of acute leukemias. Translocation t(10;11)(p11.2;q23) with KMT2A/MLL1. ABI1 isoform 2 was found to be present in acute leukemia KMT2A/MLL1-ABI1 fusion transcript. | ||||||||||||||||||||||
| Tissue Specificity | Widely expressed, with highest expression in brain. {ECO:0000269PubMed:11418237}. | ||||||||||||||||||||||
| Comments | |||||||||||||||||||||||
| Interactions | |||||||||||||||||||||||
| Number of Interactions |
This gene and/or its encoded proteins are associated with 80 experimentally validated interaction(s) in this database.
They are also associated with 22 interaction(s) predicted by orthology.
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| Gene Ontology | |||||||||||||||||||||||
Molecular Function |
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| Biological Process |
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| Cellular Component |
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| Protein Structure and Domains | |||||||||||||||||||||||
| PDB ID | |||||||||||||||||||||||
| InterPro |
IPR000727
Target SNARE coiled-coil domain IPR001452 SH3 domain IPR011511 Variant SH3 domain IPR012849 Abl-interactor, homeo-domain homologous domain |
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| PFAM |
PF05739
PF00018 PF14604 PF07653 PF07815 |
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| PRINTS |
PR00452
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| PIRSF | |||||||||||||||||||||||
| SMART |
SM00397
SM00326 |
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| TIGRFAMs | |||||||||||||||||||||||
| Post-translational Modifications | |||||||||||||||||||||||
| Modification | |||||||||||||||||||||||
| Cross-References | |||||||||||||||||||||||
| SwissProt | |||||||||||||||||||||||
| PhosphoSite | PhosphoSite-Q8IZP0 | ||||||||||||||||||||||
| TrEMBL | |||||||||||||||||||||||
| UniProt Splice Variant | |||||||||||||||||||||||
| Entrez Gene | 10006 | ||||||||||||||||||||||
| UniGene | Hs.508148 | ||||||||||||||||||||||
| RefSeq | XP_005252390 | ||||||||||||||||||||||
| HUGO | HGNC:11320 | ||||||||||||||||||||||
| OMIM | 603050 | ||||||||||||||||||||||
| CCDS | |||||||||||||||||||||||
| HPRD | 04336 | ||||||||||||||||||||||
| IMGT | |||||||||||||||||||||||
| EMBL | |||||||||||||||||||||||
| GenPept | |||||||||||||||||||||||