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
Method
Confidence
Comments
Low
Tentative data, uncurated. RBBH derived.
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 BIOCARTA
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 Q8IZP0
TrEMBL
UniProt Splice Variant
Entrez Gene 10006
UniGene Hs.508148
RefSeq NM_001178125 NM_001178120 NM_005470 NM_001178119 NM_001012752 NM_001178121 NM_001012751 NM_001012750 NM_001178123 NM_001178124 NM_001178122 NM_001178116 XM_005252332 XM_006717359 XM_005252333 XM_006717361 XM_006717360
HUGO HGNC:11320
OMIM 603050
CCDS CCDS53497 CCDS53499 CCDS7150 CCDS53500 CCDS31169 CCDS53498 CCDS31170 CCDS31171 CCDS73077 CCDS73078 CCDS53501
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
RNA Seq Atlas 10006