Gene Gene information from NCBI Gene database.
Entrez ID 10006
Gene name Abl interactor 1
Gene symbol ABI1
Synonyms (NCBI Gene)
ABI-1ABLBP4E3B1NAP1BPSSH3BPSSH3BP1
Chromosome 10
Chromosome location 10p12.1
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 interacti
miRNA miRNA information provided by mirtarbase database.
219
miRTarBase ID miRNA Experiments Reference
MIRT760233 hsa-miR-302f CLIP-seq
MIRT760234 hsa-miR-4520a-3p CLIP-seq
MIRT760235 hsa-miR-568 CLIP-seq
MIRT760236 hsa-miR-578 CLIP-seq
MIRT760237 hsa-miR-643 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
43
GO ID Ontology Definition Evidence Reference
GO:0001756 Process Somitogenesis IEA
GO:0001764 Process Neuron migration IBA
GO:0005515 Function Protein binding IPI 9010225, 9593709, 11418237, 12681507, 14565974, 15289329, 16417406, 17101133, 17395426, 18328268, 20598684, 21078624, 21173240, 21320496, 26496610, 31980649, 32296183, 33961781, 35271311
GO:0005634 Component Nucleus IEA
GO:0005737 Component Cytoplasm IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603050 11320 ENSG00000136754
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8IZP0
Protein name Abl interactor 1 (Abelson interactor 1) (Abi-1) (Abl-binding protein 4) (AblBP4) (Eps8 SH3 domain-binding protein) (Eps8-binding protein) (Nap1-binding protein) (Nap1BP) (Spectrin SH3 domain-binding protein 1) (e3B1)
Protein 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
PDB 7LXE
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07815 Abi_HHR 93 170 Abl-interactor HHR Family
PF00018 SH3_1 452 497 SH3 domain Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed, with highest expression in brain. {ECO:0000269|PubMed:11418237}.
Sequence
MAELQMLLEEEIPSGKRALIESYQNLTRVADYCENNYIQATDKRKALEETKAYTTQSLAS
VAYQINALANNVLQLLDIQASQLRRMESSINHISQTVDIHKEKVARREIGILTTNKNTSR
THKIIAPANMERPVRYIRKPIDYTVLDDVGHGVKWLKAKHGNNQPARTGT
LSRTNPPTQK
PPSPPMSGRGTLGRNTPYKTLEPVKPPTVPNDYMTSPARLGSQHSPGRTASLNQRPRTHS
GSSGGSGSRENSGSSSIGIPIAVPTPSPPTIGPENISVPPPSGAPPAPPLAPLLPVSTVI
AAPGSAPGSQYGTMTRQISRHNSTTSSTSSGGYRRTPSVTAQFSAQPHVNGGPLYSQNSI
SIAPPPPPMPQLTPQIPLTGFVARVQENIADSPTPPPPPPPDDIPMFDDSPPPPPPPPVD
YEDEEAAVVQYNDPYADGDPAWAPKNYIEKVVAIYDYTKDKDDELSFMEGAIIYVIKKND
DGWYEGVCNRVTGLFPG
NYVESIMHYTD
Sequence length 508
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Pathogenic Escherichia coli infection
Salmonella infection
  Regulation of actin dynamics for phagocytic cup formation
VEGFA-VEGFR2 Pathway
RHO GTPases Activate WASPs and WAVEs
FCGR3A-mediated phagocytosis
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ATTENTION DEFICIT HYPERACTIVITY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COENZYME Q10 DEFICIENCY, PRIMARY, 2 Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SIALOLITHIASIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute leukemia Leukemia BEFREE 11477655
★☆☆☆☆
Found in Text Mining only
Acute monocytic leukemia Monocytic Leukemia BEFREE 12547160
★☆☆☆☆
Found in Text Mining only
Acute monocytic leukemia Monocytic Leukemia LHGDN 12547160
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 22430194
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis Pubtator 33759281 Associate
★☆☆☆☆
Found in Text Mining only
Benign Neoplasm Benign Neoplasm BEFREE 26193797
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 17951403, 21046228
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 17951403, 19843640 Associate
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 22808230 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Carcinoma BEFREE 21046228, 22430194
★☆☆☆☆
Found in Text Mining only