AIF1 Gene (Protein Coding)

Allograft Inflammatory Factor 1

GC06P032603
GIFtS:
41
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 with systemic sclerosis. Alternative splicing results in multiple transcript variants, but the full-length and coding nature of ... See more...

Aliases for AIF1 Gene

Aliases for AIF1 Gene

  • Allograft Inflammatory Factor 1 2 3 4 5
  • Ionized Calcium-Binding Adapter Molecule 1 2 3 4
  • Interferon Gamma Responsive Transcript 2 3
  • Protein G1 3 4
  • AIF-1 3 4
  • IBA1 3 4
  • IRT-1 3
  • IRT1 3
  • G1 4

External Ids for AIF1 Gene

Previous GeneCards Identifiers for AIF1 Gene

  • GC06P031646
  • GC06P031353
  • GC06P031688
  • GC06P031689
  • GC06P031690
  • GC06P031582
  • GC06P031369
  • GC06P031621
  • GC06P031628
  • GC06P032310
  • GC06P032498
  • GC06P031632
  • GC06P031650
  • GC06P031663
  • GC06P031672
  • GC06P031908
  • GC06P031995
  • GC06P032172
  • GC06P032185

Summaries for AIF1 Gene

Entrez Gene Summary for AIF1 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 with systemic sclerosis. Alternative splicing results in multiple transcript variants, but the full-length and coding nature of some of these variants is not certain. [provided by RefSeq, Jan 2016]

GeneCards Summary for AIF1 Gene

AIF1 (Allograft Inflammatory Factor 1) is a Protein Coding gene. Diseases associated with AIF1 include Chronic Inflammatory Demyelinating Polyneuropathy and Neuropathy, Hereditary Sensory And Autonomic, Type Vi. Among its related pathways are Spinal Cord Injury. Gene Ontology (GO) annotations related to this gene include calcium ion binding and actin filament binding. An important paralog of this gene is AIF1L.

UniProtKB/Swiss-Prot Summary for AIF1 Gene

  • 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. Promotes the proliferation of vascular smooth muscle cells and of T-lymphocytes. Enhances lymphocyte migration. Plays a role in vascular inflammation.

Gene Wiki entry for AIF1 Gene

Additional gene information for AIF1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for AIF1 Gene

Genomics for AIF1 Gene

GeneHancer (GH) Regulatory Elements for AIF1 Gene

Promoters and enhancers for AIF1 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH06J031614 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE CraniofacialAtlas 750.6 +0.7 669 3.6 SP1 SMARCE1 NR2F6 MIXL1 MYC RELA MAX ZNF121 TEAD4 ZNF148 AIF1 BAG6 LY6G5B HLA-DRB1 SKIV2L LY6G5C LST1 LTB C4A DDX39B
GH06J031567 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 13 -36.8 -36773 22.2 GTF3C2 ZNF24 SP1 CTCF RBPJ POLR2A TRIM22 MYC ETV6 RELA TNF ATP6V1G2 LST1 AB675034 LTB lnc-TNF-1 LTA DDX39B LY6G5B ATF6B
GH06J031658 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 5.9 +44.9 44946 3.9 ZBTB40 MLX POLR2A HCFC1 MIXL1 ZNF362 L3MBTL2 MAX DACH1 MNT BAG6 C6orf47 C6orf47-AS1 piR-32214-584 LY6G5C LY6G5B LSM2 DDX39B PRRC2A SKIV2L
GH06J031557 Enhancer 0.9 ENCODE 13.1 -55.6 -55601 4.2 SP1 ZBTB40 SMARCE1 HDAC2 MYC ETV6 RELA L3MBTL2 MAX TEAD4 LTA lnc-NFKBIL1-9 DDX39B C6orf47 GPANK1 LY6G5B HLA-C ENSG00000272221 MICA NRM
GH06J031733 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 2.4 +122.3 122263 8.5 E2F8 ZNF785 ZNF24 SP1 ZBTB40 CTCF SIX5 ZBTB6 LCORL FOXA1 MSH5 CLIC1 MSH5-SAPCD1 LY6G5B DDX39B ATF6B LSM2 GPANK1 NFKBIL1 SKIV2L
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around AIF1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the AIF1 gene promoter:
  • ATF-2
  • c-Jun
  • COUP

Genomic Locations for AIF1 Gene

Genomic Locations for AIF1 Gene
chr6:31,615,192-31,617,021
(GRCh38/hg38)
Size:
1,830 bases
Orientation:
Plus strand
chr6:31,582,961-31,584,798
(GRCh37/hg19)
Size:
1,838 bases
Orientation:
Plus strand

Genomic View for AIF1 Gene

Genes around AIF1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AIF1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AIF1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for AIF1 Gene

Proteins for AIF1 Gene

Products:

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  2. Protein
  3. Assay

  • Protein details for AIF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P55008-AIF1_HUMAN
    Recommended name:
    Allograft inflammatory factor 1
    Protein Accession:
    P55008
    Secondary Accessions:
    • A8K406
    • O43904
    • Q9UIV4
    • Q9UKS9

    Protein attributes for AIF1 Gene

    Size:
    147 amino acids
    Molecular mass:
    16703 Da
    Quaternary structure:
    • Homodimer (Potential). Monomer. Interacts with LCP1.

    Three dimensional structures from OCA and Proteopedia for AIF1 Gene

    Alternative splice isoforms for AIF1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AIF1 Gene

Protein Expression for AIF1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for AIF1 Gene

Other Protein References for AIF1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for AIF1

No data available for DME Specific Peptides for AIF1 Gene

Domains & Families for AIF1 Gene

Gene Families for AIF1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for AIF1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for AIF1 Gene

GenScript: Design optimal peptide antigens:
  • Protein G1 (AIF1_HUMAN)
  • IRT-1 (O43904_HUMAN)
  • Allograft inflammatory factor 1, isoform CRA_c (Q4V347_HUMAN)
  • Allograft inflammatory factor 1 (Q5STX8_HUMAN)
genes like me logo Genes that share domains with AIF1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for AIF1 Gene

Function for AIF1 Gene

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  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for AIF1 Gene

UniProtKB/Swiss-Prot 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. Promotes the proliferation of vascular smooth muscle cells and of T-lymphocytes. Enhances lymphocyte migration. Plays a role in vascular inflammation.

Phenotypes From GWAS Catalog for AIF1 Gene

Gene Ontology (GO) - Molecular Function for AIF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0003779 actin binding IEA --
GO:0005509 calcium ion binding ISS,IBA 17011575
GO:0046872 metal ion binding IEA --
GO:0051015 actin filament binding IDA 16049345
genes like me logo Genes that share ontologies with AIF1: view
genes like me logo Genes that share phenotypes with AIF1: view

Animal Models for AIF1 Gene

MGI Knock Outs for AIF1:
  • Aif1 Aif1<tm1.1(KOMP)Wtsi>
  • Aif1 Aif1<tm1Nsib>

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for AIF1 Gene

Localization for AIF1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AIF1 Gene

Cytoplasm, cytoskeleton. Cell projection, ruffle membrane; Peripheral membrane protein; Cytoplasmic side. Cell projection, phagocytic cup. Note=Associated with the actin cytoskeleton at membrane ruffles and at sites of phagocytosis. {ECO:0000250 UniProtKB:O70200}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for AIF1 gene
Compartment Confidence
nucleus 5
cytosol 5
plasma membrane 4
cytoskeleton 4
extracellular 2
mitochondrion 2
endoplasmic reticulum 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for AIF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001726 ruffle ISS --
GO:0001891 phagocytic cup ISS --
GO:0005634 nucleus ISS --
GO:0005737 cytoplasm ISS --
GO:0005829 cytosol IDA 22116621
genes like me logo Genes that share ontologies with AIF1: view

Pathways & Interactions for AIF1 Gene

PathCards logo

SuperPathways for AIF1 Gene

SuperPathway Contained pathways
1 Spinal Cord Injury
Spinal Cord Injury
-
genes like me logo Genes that share pathways with AIF1: view

Pathways by source for AIF1 Gene

1 BioSystems pathway for AIF1 Gene

Gene Ontology (GO) - Biological Process for AIF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001774 microglial cell activation NAS 17011575
GO:0001934 positive regulation of protein phosphorylation IEA --
GO:0006911 phagocytosis, engulfment ISS --
GO:0006954 inflammatory response NAS 7769138
GO:0008284 positive regulation of cell proliferation IDA 19745784
genes like me logo Genes that share ontologies with AIF1: view

No data available for SIGNOR curated interactions for AIF1 Gene

Drugs & Compounds for AIF1 Gene

Products:

  1. Drug

(2) Drugs for AIF1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for AIF1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with AIF1: view

Transcripts for AIF1 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for AIF1 Gene

(4) REFSEQ mRNAs :
(21) Additional mRNA sequences :
(225) Selected AceView cDNA sequences:
(5) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for AIF1 Gene

No ASD Table

Relevant External Links for AIF1 Gene

GeneLoc Exon Structure for
AIF1
ECgene alternative splicing isoforms for
AIF1

Expression for AIF1 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for AIF1 Gene

mRNA expression in normal human tissues for AIF1 Gene
mRNA expression by GTEx for AIF1 GenemRNA expression by BioGPS for AIF1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for AIF1 Gene

This gene is overexpressed in Whole Blood (x15.6) and Spleen (x8.1).

Protein differential expression in normal tissues from HIPED for AIF1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (11.1), Lavage (9.2), Nasal epithelium (8.2), and Heart (6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for AIF1 Gene



NURSA nuclear receptor signaling pathways regulating expression of AIF1 Gene:

AIF1

SOURCE GeneReport for Unigene cluster for AIF1 Gene:

Hs.76364

mRNA Expression by UniProt/SwissProt for AIF1 Gene:

P55008-AIF1_HUMAN
Tissue specificity: Detected in T-lymphocytes and peripheral blood mononuclear cells.

Evidence on tissue expression from TISSUES for AIF1 Gene

  • Blood(4.5)
  • Liver(4.4)
  • Nervous system(3.9)
  • Spleen(3.2)
  • Heart(2.5)
  • Eye(2.3)
genes like me logo Genes that share expression patterns with AIF1: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for AIF1 Gene

Orthologs for AIF1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for AIF1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia AIF1 33 32
  • 99.32 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia AIF1 33 32
  • 90.02 (n)
 OneToOne
mouse
(Mus musculus)
 Mammalia Aif1 17 33 32
  • 88.89 (n)
cow
(Bos Taurus)
 Mammalia AIF1 33 32
  • 88.44 (n)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Aif1 32
  • 87.3 (n)
oppossum
(Monodelphis domestica)
 Mammalia -- 33
  • 39 (a)
 ManyToMany
lizard
(Anolis carolinensis)
 Reptilia -- 33
  • 71 (a)
 OneToMany
-- 33
  • 63 (a)
 OneToMany
Species where no ortholog for AIF1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for AIF1 Gene

ENSEMBL:
Gene Tree for AIF1 (if available)
TreeFam:
Gene Tree for AIF1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for AIF1: view image

Paralogs for AIF1 Gene

Paralogs for AIF1 Gene

(8) SIMAP similar genes for AIF1 Gene using alignment to 4 proteins:

  • AIF1_HUMAN
  • I3WTX1_HUMAN
  • Q4V347_HUMAN
  • Q5STX8_HUMAN
genes like me logo Genes that share paralogs with AIF1: view

Variants for AIF1 Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for AIF1 Gene

SNP ID Clin Chr 06 pos Variation AA Info Type
rs1000047016 -- 31,617,322(+) T/C downstream_transcript_variant
rs1001749810 -- 31,613,751(+) C/T upstream_transcript_variant
rs1001830310 -- 31,613,393(+) C/A upstream_transcript_variant
rs1002768367 -- 31,613,570(+) C/T upstream_transcript_variant
rs1003421720 -- 31,615,583(+) G/A genic_upstream_transcript_variant, splice_donor_variant, upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for AIF1 Gene

Variant ID Type Subtype PubMed ID
dgv10403n54 CNV loss 21841781
dgv10404n54 CNV loss 21841781
nsv1073969 CNV deletion 25765185
nsv1112900 CNV deletion 24896259
nsv1126749 CNV deletion 24896259
nsv1161370 CNV deletion 26073780
nsv462871 CNV loss 19166990
nsv601942 CNV loss 21841781
nsv830627 CNV loss 17160897

Variation tolerance for AIF1 Gene

Residual Variation Intolerance Score: 83.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.49; 71.77% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for AIF1 Gene

Human Gene Mutation Database (HGMD)
AIF1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
AIF1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AIF1 Gene

Disorders for AIF1 Gene

MalaCards: The human disease database

(13) MalaCards diseases for AIF1 Gene - From: HGMD, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
chronic inflammatory demyelinating polyneuropathy
  • chronic inflammatory demyelinating polyradiculoneuropathy
neuropathy, hereditary sensory and autonomic, type vi
  • hsan6
demyelinating polyneuropathy
  • peripheral demyelinating neuropathy
scleroderma, familial progressive
  • systemic sclerosis
brown-sequard syndrome
  • brown-squard syndrome
- elite association - COSMIC cancer census association via MalaCards
Search AIF1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for AIF1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with AIF1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for AIF1 Gene

Publications for AIF1 Gene

  1. cDNA cloning of human allograft inflammatory factor-1: tissue distribution, cytokine induction, and mRNA expression in injured rat carotid arteries. (PMID: 8912632) Autieri MV (Biochemical and biophysical research communications 1996) 2 3 4 23 56
  2. Structural and functional characterization of human Iba proteins. (PMID: 18699778) Schulze JO … Büssow K (The FEBS journal 2008) 3 4 23 56
  3. Association of allograft inflammatory factor-1 gene polymorphism with rheumatoid arthritis. (PMID: 18721278) Pawlik A … Drozdzik M (Tissue antigens 2008) 3 23 43 56
  4. Allograft inflammatory factor-1 and tumor necrosis factor single nucleotide polymorphisms in systemic sclerosis. (PMID: 17498268) Otieno FG … Artlett CM (Tissue antigens 2007) 3 23 43 56
  5. An allograft inflammatory factor 1 (AIF1) single nucleotide polymorphism (SNP) is associated with anticentromere antibody positive systemic sclerosis. (PMID: 17522098) Alkassab F … Mayes MD (Rheumatology (Oxford, England) 2007) 3 23 43 56

ExternalLinks

View latest publications for AIF1 gene in Mastermind

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Sources for AIF1 Gene