help  | about  | cite  | software

Gene : ABI1 Homo sapiens
Name  ? abl interactor 1 Cytological Location  10p12.1
Brief Description  abl interactor 1
Description  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]
  • synonyms:
  • E3B1,
  • uc001isx.4,
  • ABI1,
  • SSH3BP,
  • NAP1BP,
  • SSH3BP1,
  • SSH3BP1,
  • NM_005470,
  • spectrin SH3 domain binding protein 1,
  • ABI-1,
  • OTTHUMG00000017848,
  • ABLBP4,
  • HGNC:11320,
  • E3B1,
  • U87166,
  • abl-interactor 1,
  • ABI-1
  • identifiers:
  • 10006,
  • ENSG00000136754,
  • ABI1

Genome feature

Region: gene ? Length: 114391  
Location: 10:26746596-26860986 reverse strand Cyto location: 10p12.1


Paste the following link
Lists
This Gene isn't in any lists. Upload a list.

Uni Prot Comments Displayer

Protein Atlas Displayer

Gene Expression Atlas Tissues Displayer

Gene Expression Atlas Diseases Displayer

Publication Counts Displayer

Curated Proteins Displayer

Function

Gene Ontology Displayer

17 Pathways

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

J Browse Displayer

Gene Structure Displayer

Overlapping Features Displayer

Mouse Alleles Displayer

Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

0 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

Homologue Displayer

Interactions

Cytoscape Network Displayer

Gene --> Physical and Genetic Interactions

Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

17 Pathways

335 SN Ps

5 Cross References

16 Data Sets

6 Homologues

0 Located Features

97 Rna Seq Results





Funding: InterMine has been developed principally through support of the Wellcome Trust. Complementary projects have been funded by the NIH/NHGRI and the BBSRC.

An ELIXIR-UK resource

© 2002 - 2019 Department of Genetics, University of Cambridge, Downing Street,
Cambridge CB2 3EH, United Kingdom