Homo sapiens Protein: ABI1 | |||||||||||||||||||||||||||
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Summary | |||||||||||||||||||||||||||
InnateDB Protein | IDBP-63987.6 | ||||||||||||||||||||||||||
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 | ENSP00000352114 | ||||||||||||||||||||||||||
InnateDB Gene | IDBG-63979 (ABI1) | ||||||||||||||||||||||||||
Protein Structure | |||||||||||||||||||||||||||
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 | Q8IZP0 | ||||||||||||||||||||||||||
PhosphoSite | PhosphoSite-Q8IZP0 | ||||||||||||||||||||||||||
TrEMBL | |||||||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||||||
Entrez Gene | 10006 | ||||||||||||||||||||||||||
UniGene | Hs.508148 | ||||||||||||||||||||||||||
RefSeq | NP_001171590 | ||||||||||||||||||||||||||
HUGO | HGNC:11320 | ||||||||||||||||||||||||||
OMIM | 603050 | ||||||||||||||||||||||||||
CCDS | CCDS53500 | ||||||||||||||||||||||||||
HPRD | 04336 | ||||||||||||||||||||||||||
IMGT | |||||||||||||||||||||||||||
EMBL | AB040151 AF001628 AF006516 AF260262 AF540955 AJ277065 AJ277066 AJ277067 AJ277068 AJ277069 AJ277070 AJ277071 AJ277072 AJ277073 AJ277074 AK126803 AK291823 AK298646 AL139404 AL390961 BC024254 CH471072 U87166 | ||||||||||||||||||||||||||
GenPept | AAB62569 AAC39757 AAD00897 AAF70309 AAH24254 AAN28379 BAB55675 BAF84512 BAG54374 BAG60820 CAB88006 CAH73112 CAH73113 CAH73114 CAH73115 CAH73116 CAH73117 CAH73118 CAH73119 CAI17272 CAI17273 CAI17274 CAI17275 CAI17276 CAI17277 CAI17278 CAI17279 EAW86079 EAW86080 | ||||||||||||||||||||||||||