Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
199
Gene name Gene Name - the full gene name approved by the HGNC.
Allograft inflammatory factor 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
AIF1
Synonyms (NCBI Gene) Gene synonyms aliases
AIF-1, IBA1, IRT-1, IRT1
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6p21.33
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a protein that binds actin and calcium. This gene is induced by cytokines and interferon and may promote macrophage activation and growth of vascular smooth muscle cells and T-lymphocytes. Polymorphisms in this gene may be associated wit
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT774211 hsa-miR-188-5p CLIP-seq
MIRT774212 hsa-miR-204 CLIP-seq
MIRT774213 hsa-miR-211 CLIP-seq
MIRT774214 hsa-miR-4446-5p CLIP-seq
MIRT774215 hsa-miR-4755-5p CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001726 Component Ruffle IEA
GO:0001726 Component Ruffle ISS
GO:0001774 Process Microglial cell activation NAS 17011575
GO:0001891 Component Phagocytic cup IEA
GO:0001891 Component Phagocytic cup ISS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
601833 352 ENSG00000204472
Protein
UniProt ID P55008
Protein name Allograft inflammatory factor 1 (AIF-1) (Ionized calcium-binding adapter molecule 1) (Protein G1)
Protein function Actin-binding protein that enhances membrane ruffling and RAC activation. Enhances the actin-bundling activity of LCP1. Binds calcium. Plays a role in RAC signaling and in phagocytosis. May play a role in macrophage activation and function. Prom
PDB 2D58 , 2G2B
Family and domains
Tissue specificity TISSUE SPECIFICITY: Detected in T-lymphocytes and peripheral blood mononuclear cells. {ECO:0000269|PubMed:16049345}.
Sequence
MSQTRDLQGGKAFGLLKAQQEERLDEINKQFLDDPKYSSDEDLPSKLEGFKEKYMEFDLN
GNGDIDIMSLKRMLEKLGVPKTHLELKKLIGEVSSGSGETFSYPDFLRMMLGKRSAILKM
ILMYEEKAREKEKPTGPPAKKAISELP
Sequence length 147
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Myocardial Infarction Myocardial infarction N/A N/A GWAS
Psoriasis Psoriasis N/A N/A GWAS
Systemic lupus erythematosus Systemic lupus erythematosus N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
AA amyloidosis Associate 28365005, 35247551
Alcoholism Associate 18190912
Alzheimer Disease Associate 23943781, 25362031, 27256292, 28365005, 31454549, 31703599, 33597025, 35247551
Amyotrophic Lateral Sclerosis Associate 22720079
Amyotrophic lateral sclerosis 1 Associate 30215603
Arthritis Rheumatoid Stimulate 24018427
Arthritis Rheumatoid Associate 24018427, 32708725
Atherosclerosis Associate 15784173, 34925641
Autism Spectrum Disorder Associate 27957319
Behcet Syndrome Associate 30252881