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AIF1 (allograft inflammatory factor 1)

Identity

Alias_symbol (synonym)IRT-1
AIF-1
Em:AF129756.17
IBA1
Other aliasIRT1
HGNC (Hugo) AIF1
LocusID (NCBI) 199
Atlas_Id 47623
Location 6p21.33  [Link to chromosome band 6p21]
Location_base_pair Starts at 31616000 and ends at 31617025 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
AIF1 (6p21.33) / LEO1 (15q21.2)AIF1 (6p21.33) / TMED5 (1p22.1)MSH5 (6p21.33) / AIF1 (6p21.33)
PRRC2A (6p21.33) / AIF1 (6p21.33)SORBS2 (4q35.1) / AIF1 (6p21.33)TRERF1 (6p21.1) / AIF1 (6p21.33)
PRRC2A 6p21.33 / AIF1 6p21.33SORBS2 4q35.1 / AIF1 6p21.33TRERF1 6p21.1 / AIF1 6p21.33

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 3 ]
  t(4;6)(q35;p21) SORBS2/AIF1
PRRC2A/AIF1 (6p21)
TRERF1/AIF1 (6p21)


External links

Nomenclature
HGNC (Hugo)AIF1   352
Cards
Entrez_Gene (NCBI)AIF1  199  allograft inflammatory factor 1
AliasesAIF-1; IBA1; IRT-1; IRT1
GeneCards (Weizmann)AIF1
Ensembl hg19 (Hinxton)ENSG00000204472 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000204472 [Gene_View]  ENSG00000204472 [Sequence]  chr6:31616000-31617025 [Contig_View]  AIF1 [Vega]
ICGC DataPortalENSG00000204472
TCGA cBioPortalAIF1
AceView (NCBI)AIF1
Genatlas (Paris)AIF1
WikiGenes199
SOURCE (Princeton)AIF1
Genetics Home Reference (NIH)AIF1
Genomic and cartography
GoldenPath hg38 (UCSC)AIF1  -     chr6:31616000-31617025 +  6p21.33   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)AIF1  -     6p21.33   [Description]    (hg19-Feb_2009)
EnsemblAIF1 - 6p21.33 [CytoView hg19]  AIF1 - 6p21.33 [CytoView hg38]
Mapping of homologs : NCBIAIF1 [Mapview hg19]  AIF1 [Mapview hg38]
OMIM601833   
Gene and transcription
Genbank (Entrez)AF088038 AF299327 AF299329 AK290771 AV716806
RefSeq transcript (Entrez)NM_001318970 NM_001623 NM_004847 NM_032955
RefSeq genomic (Entrez)NC_000006 NT_113891 NT_167245 NT_167247 NT_167248 NT_167249
Consensus coding sequences : CCDS (NCBI)AIF1
Cluster EST : UnigeneHs.76364 [ NCBI ]
CGAP (NCI)Hs.76364
Alternative Splicing GalleryENSG00000204472
Gene ExpressionAIF1 [ NCBI-GEO ]   AIF1 [ EBI - ARRAY_EXPRESS ]   AIF1 [ SEEK ]   AIF1 [ MEM ]
Gene Expression Viewer (FireBrowse)AIF1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)199
GTEX Portal (Tissue expression)AIF1
Human Protein AtlasENSG00000204472-AIF1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP55008   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP55008  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP55008
Splice isoforms : SwissVarP55008
PhosPhoSitePlusP55008
Domaine pattern : Prosite (Expaxy)EF_HAND_2 (PS50222)   
Domains : Interpro (EBI)EF-hand-dom_pair    EF_hand_dom   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)AIF1
DMDM Disease mutations199
Blocks (Seattle)AIF1
PDB (SRS)2D58    2G2B   
PDB (PDBSum)2D58    2G2B   
PDB (IMB)2D58    2G2B   
PDB (RSDB)2D58    2G2B   
Structural Biology KnowledgeBase2D58    2G2B   
SCOP (Structural Classification of Proteins)2D58    2G2B   
CATH (Classification of proteins structures)2D58    2G2B   
SuperfamilyP55008
Human Protein Atlas [tissue]ENSG00000204472-AIF1 [tissue]
Peptide AtlasP55008
HPRD03496
IPIIPI00022630   IPI00843994   IPI00016823   IPI00795705   
Protein Interaction databases
DIP (DOE-UCLA)P55008
IntAct (EBI)P55008
FunCoupENSG00000204472
BioGRIDAIF1
STRING (EMBL)AIF1
ZODIACAIF1
Ontologies - Pathways
QuickGOP55008
Ontology : AmiGOmicroglial cell activation  phagocytic cup  positive regulation of protein phosphorylation  molecular_function  calcium ion binding  calcium ion binding  nucleus  nucleus  cytoplasm  cytosol  actin filament  actin filament  phagocytosis, engulfment  inflammatory response  inflammatory response  negative regulation of gene expression  positive regulation of muscle hyperplasia  Rac protein signal transduction  cerebellum development  lamellipodium  actin filament polymerization  cellular response to extracellular stimulus  ruffle membrane  ruffle membrane  cellular response to hormone stimulus  positive regulation of T cell proliferation  cell projection  negative regulation of apoptotic process  perikaryon  positive regulation of nitric oxide biosynthetic process  perinuclear region of cytoplasm  positive regulation of smooth muscle cell proliferation  negative regulation of smooth muscle cell proliferation  response to axon injury  actin filament binding  actin filament binding  actin filament bundle assembly  actin filament bundle assembly  response to glucocorticoid  response to electrical stimulus  cellular response to morphine  cellular response to interferon-gamma  cellular response to interferon-gamma  cellular response to hydroperoxide  negative regulation of smooth muscle cell chemotaxis  positive regulation of smooth muscle cell chemotaxis  positive regulation of monocyte chemotaxis  ruffle assembly  ruffle assembly  ruffle assembly  positive regulation of G1/S transition of mitotic cell cycle  positive regulation of T cell migration  
Ontology : EGO-EBImicroglial cell activation  phagocytic cup  positive regulation of protein phosphorylation  molecular_function  calcium ion binding  calcium ion binding  nucleus  nucleus  cytoplasm  cytosol  actin filament  actin filament  phagocytosis, engulfment  inflammatory response  inflammatory response  negative regulation of gene expression  positive regulation of muscle hyperplasia  Rac protein signal transduction  cerebellum development  lamellipodium  actin filament polymerization  cellular response to extracellular stimulus  ruffle membrane  ruffle membrane  cellular response to hormone stimulus  positive regulation of T cell proliferation  cell projection  negative regulation of apoptotic process  perikaryon  positive regulation of nitric oxide biosynthetic process  perinuclear region of cytoplasm  positive regulation of smooth muscle cell proliferation  negative regulation of smooth muscle cell proliferation  response to axon injury  actin filament binding  actin filament binding  actin filament bundle assembly  actin filament bundle assembly  response to glucocorticoid  response to electrical stimulus  cellular response to morphine  cellular response to interferon-gamma  cellular response to interferon-gamma  cellular response to hydroperoxide  negative regulation of smooth muscle cell chemotaxis  positive regulation of smooth muscle cell chemotaxis  positive regulation of monocyte chemotaxis  ruffle assembly  ruffle assembly  ruffle assembly  positive regulation of G1/S transition of mitotic cell cycle  positive regulation of T cell migration  
NDEx NetworkAIF1
Atlas of Cancer Signalling NetworkAIF1
Wikipedia pathwaysAIF1
Orthology - Evolution
OrthoDB199
GeneTree (enSembl)ENSG00000204472
Phylogenetic Trees/Animal Genes : TreeFamAIF1
HOVERGENP55008
HOGENOMP55008
Homologs : HomoloGeneAIF1
Homology/Alignments : Family Browser (UCSC)AIF1
Gene fusions - Rearrangements
Fusion : MitelmanPRRC2A/AIF1 [6p21.33/6p21.33]  [t(6;6)(p21;p21)]  
Fusion : MitelmanSORBS2/AIF1 [4q35.1/6p21.33]  [t(4;6)(q35;p21)]  
Fusion : MitelmanTRERF1/AIF1 [6p21.1/6p21.33]  [t(6;6)(p21;p21)]  
Fusion PortalPRRC2A 6p21.33 AIF1 6p21.33 BRCA
Fusion PortalSORBS2 4q35.1 AIF1 6p21.33 BRCA
Fusion PortalTRERF1 6p21.1 AIF1 6p21.33 LUAD
Fusion : QuiverAIF1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerAIF1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)AIF1
dbVarAIF1
ClinVarAIF1
1000_GenomesAIF1 
Exome Variant ServerAIF1
ExAC (Exome Aggregation Consortium)ENSG00000204472
GNOMAD BrowserENSG00000204472
Varsome BrowserAIF1
Genetic variants : HAPMAP199
Genomic Variants (DGV)AIF1 [DGVbeta]
DECIPHERAIF1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisAIF1 
Mutations
ICGC Data PortalAIF1 
TCGA Data PortalAIF1 
Broad Tumor PortalAIF1
OASIS PortalAIF1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICAIF1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDAIF1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch AIF1
DgiDB (Drug Gene Interaction Database)AIF1
DoCM (Curated mutations)AIF1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)AIF1 (select a term)
intoGenAIF1
Cancer3DAIF1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM601833   
Orphanet
DisGeNETAIF1
MedgenAIF1
Genetic Testing Registry AIF1
NextProtP55008 [Medical]
TSGene199
GENETestsAIF1
Target ValidationAIF1
Huge Navigator AIF1 [HugePedia]
snp3D : Map Gene to Disease199
BioCentury BCIQAIF1
ClinGenAIF1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD199
Chemical/Pharm GKB GenePA24646
Clinical trialAIF1
Miscellaneous
canSAR (ICR)AIF1 (select the gene name)
Probes
Litterature
PubMed80 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineAIF1
EVEXAIF1
GoPubMedAIF1
iHOPAIF1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Nov 6 10:50:26 CET 2018

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