Homo sapiens Gene: ABI1
Summary
InnateDB Gene IDBG-63979.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ABI1
Gene Name abl-interactor 1
Synonyms ABI-1; ABLBP4; E3B1; NAP1BP; SSH3BP; SSH3BP1
Species Homo sapiens
Ensembl Gene ENSG00000136754
Encoded Proteins
abl-interactor 1
abl-interactor 1
abl-interactor 1
abl-interactor 1
abl-interactor 1
abl-interactor 1
abl-interactor 1
abl-interactor 1
abl-interactor 1
abl-interactor 1
abl-interactor 1
abl-interactor 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a member of the Abelson-interactor family of adaptor proteins. These proteins facilitate signal transduction as components of several multiprotein complexes, and regulate actin polymerization and cytoskeletal remodeling through interactions with Abelson tyrosine kinases. The encoded protein plays a role in macropinocytosis as a component of the WAVE2 complex, and also forms a complex with EPS8 and SOS1 that mediates signal transduction from Ras to Rac. This gene may play a role in the progression of several malignancies including melanoma, colon cancer and breast cancer, and a t(10;11) chromosomal translocation involving this gene and the MLL gene has been associated with acute myeloid leukemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 14. [provided by RefSeq, Sep 2011]
Gene Information
Type Protein coding
Genomic Location Chromosome 10:26746593-26861087
Strand Reverse strand
Band p12.1
Transcripts
ENST00000376170 ENSP00000365340
ENST00000376166 ENSP00000365336
ENST00000376160 ENSP00000365330
ENST00000359188 ENSP00000352114
ENST00000346832 ENSP00000279599
ENST00000376142 ENSP00000365312
ENST00000376140 ENSP00000365310
ENST00000376139 ENSP00000365309
ENST00000376138 ENSP00000365308
ENST00000376137 ENSP00000365307
ENST00000473481
ENST00000490841 ENSP00000440101
ENST00000536334 ENSP00000439646
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.
Experimentally validated
Total 80 [view]
Protein-Protein 80 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 22 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
GO:0008092 cytoskeletal protein binding
GO:0030296 protein tyrosine kinase activator activity
GO:0032403 protein complex binding
Biological Process
GO:0001756 somitogenesis
GO:0006928 cellular component movement
GO:0007169 transmembrane receptor protein tyrosine kinase signaling pathway
GO:0008154 actin polymerization or depolymerization
GO:0008285 negative regulation of cell proliferation
GO:0009987 cellular process
GO:0018108 peptidyl-tyrosine phosphorylation
GO:0035855 megakaryocyte development
GO:0038096 Fc-gamma receptor signaling pathway involved in phagocytosis
GO:0045087 innate immune response
GO:0072673 lamellipodium morphogenesis
Cellular Component
GO:0005622 intracellular
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005783 endoplasmic reticulum
GO:0005829 cytosol
GO:0014069 postsynaptic density
GO:0030027 lamellipodium
GO:0030054 cell junction
GO:0030175 filopodium
GO:0030426 growth cone
GO:0031209 SCAR complex
GO:0031252 cell leading edge
GO:0043005 neuron projection
GO:0045211 postsynaptic membrane
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Gene ID
Gene Order
Pathways
NETPATH
EGFR1 pathway
TCR pathway
REACTOME
Regulation of actin dynamics for phagocytic cup formation pathway
Signaling by VEGF pathway
Innate Immune System pathway
Signal Transduction pathway
Immune System pathway
VEGFA-VEGFR2 Pathway pathway
Fcgamma receptor (FCGR) dependent phagocytosis pathway
KEGG
INOH
PID NCI
E-cadherin signaling in the nascent adherens junction
Regulation of RAC1 activity
ErbB1 downstream signaling
RAC1 signaling pathway
Alpha4 beta1 integrin signaling events
Stabilization and expansion of the E-cadherin adherens junction
PDGFR-beta signaling pathway
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.508148
RefSeq NM_001012750 NM_001012751 NM_001012752 NM_001178116 NM_001178119 NM_001178120 NM_001178121 NM_001178122 NM_001178123 NM_001178124 NM_001178125 NM_005470 XM_005252332 XM_005252333 XM_006717359 XM_006717360 XM_006717361
HUGO
OMIM
CCDS CCDS31169 CCDS31170 CCDS31171 CCDS53497 CCDS53498 CCDS53499 CCDS53500 CCDS53501 CCDS7150 CCDS73077 CCDS73078
HPRD 04336
IMGT
EMBL
GenPept
RNA Seq Atlas