IRF1 Gene (Protein Coding)

Interferon Regulatory Factor 1

GC05M132481
GIFtS:
47
The protein encoded by this gene is a transcriptional regulator and tumor suppressor, serving as an activator of genes involved in both innate and acquired immune responses. The encoded protein activates the transcription of genes involved in the body's response to viruses and bacteria, playing a role in cell proliferation, apoptosis, the immune response, and DNA damage respons... See more...

Aliases for IRF1 Gene

Aliases for IRF1 Gene

  • Interferon Regulatory Factor 1 2 3 4 5
  • IRF-1 3 4
  • MAR 2 3
  • Interferon Regulatory Factor 1 Isoform D9,10+ 3
  • Interferon Regulatory Factor 1 Isoform Delta4 3
  • Interferon Regulatory Factor 1 Isoform Delta7 3
  • Interferon Regulatory Factor 1 Isoform +I9 3
  • Interferon Regulatory Factor 1 Isoform D78 3
  • Interferon Regulatory Factor-1 2
  • IRF1 5

External Ids for IRF1 Gene

Previous GeneCards Identifiers for IRF1 Gene

  • GC05M131340
  • GC05M132265
  • GC05M131849
  • GC05M131894
  • GC05M131846
  • GC05M127009
  • GC05M131817

Summaries for IRF1 Gene

Entrez Gene Summary for IRF1 Gene

  • The protein encoded by this gene is a transcriptional regulator and tumor suppressor, serving as an activator of genes involved in both innate and acquired immune responses. The encoded protein activates the transcription of genes involved in the body's response to viruses and bacteria, playing a role in cell proliferation, apoptosis, the immune response, and DNA damage response. This protein represses the transcription of several other genes. As a tumor suppressor, it both suppresses tumor cell growth and stimulates an immune response against tumor cells. Defects in this gene have been associated with gastric cancer, myelogenous leukemia, and lung cancer. [provided by RefSeq, Aug 2017]

GeneCards Summary for IRF1 Gene

IRF1 (Interferon Regulatory Factor 1) is a Protein Coding gene. Diseases associated with IRF1 include Gastric Cancer and Lung Cancer. Among its related pathways are Apoptosis Modulation and Signaling and Prolactin Signaling Pathway. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and RNA polymerase II proximal promoter sequence-specific DNA binding. An important paralog of this gene is IRF2.

UniProtKB/Swiss-Prot Summary for IRF1 Gene

  • Transcriptional regulator which displays a remarkable functional diversity in the regulation of cellular responses. These include the regulation of IFN and IFN-inducible genes, host response to viral and bacterial infections, regulation of many genes expressed during hematopoiesis, inflammation, immune responses and cell proliferation and differentiation, regulation of the cell cycle and induction of growth arrest and programmed cell death following DNA damage. Stimulates both innate and acquired immune responses through the activation of specific target genes and can act as a transcriptional activator and repressor regulating target genes by binding to an interferon-stimulated response element (ISRE) in their promoters. Its target genes for transcriptional activation activity include: genes involved in anti-viral response, such as IFN-alpha/beta, DDX58/RIG-I, TNFSF10/TRAIL, OAS1/2, PIAS1/GBP, EIF2AK2/PKR and RSAD2/viperin; antibacterial response, such as NOS2/INOS; anti-proliferative response, such as p53/TP53, LOX and CDKN1A; apoptosis, such as BBC3/PUMA, CASP1, CASP7 and CASP8; immune response, such as IL7, IL12A/B and IL15, PTGS2/COX2 and CYBB; DNA damage responses and DNA repair, such as POLQ/POLH; MHC class I expression, such as TAP1, PSMB9/LMP2, PSME1/PA28A, PSME2/PA28B and B2M and MHC class II expression, such as CIITA. Represses genes involved in anti-proliferative response, such as BIRC5/survivin, CCNB1, CCNE1, CDK1, CDK2 and CDK4 and in immune response, such as FOXP3, IL4, ANXA2 and TLR4. Stimulates p53/TP53-dependent transcription through enhanced recruitment of EP300 leading to increased acetylation of p53/TP53. Plays an important role in immune response directly affecting NK maturation and activity, macrophage production of IL12, Th1 development and maturation of CD8+ T-cells. Also implicated in the differentiation and maturation of dendritic cells and in the suppression of regulatory T (Treg) cells development. Acts as a tumor suppressor and plays a role not only in antagonism of tumor cell growth but also in stimulating an immune response against tumor cells.

Gene Wiki entry for IRF1 Gene

Additional gene information for IRF1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for IRF1 Gene

Genomics for IRF1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for IRF1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around IRF1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for IRF1

Top Transcription factor binding sites by QIAGEN in the IRF1 gene promoter:
  • C/EBPalpha
  • GATA-1
  • IRF-7A
  • STAT1
  • STAT1alpha
  • STAT1beta

Genomic Locations for IRF1 Gene

Genomic Locations for IRF1 Gene
chr5:132,481,609-132,490,789
(GRCh38/hg38)
Size:
9,181 bases
Orientation:
Minus strand
chr5:131,817,301-131,826,490
(GRCh37/hg19)
Size:
9,190 bases
Orientation:
Minus strand

Genomic View for IRF1 Gene

Genes around IRF1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
IRF1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for IRF1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for IRF1 Gene

Proteins for IRF1 Gene

Products:

  1. Antibody
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  3. Assay

  • Protein details for IRF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P10914-IRF1_HUMAN
    Recommended name:
    Interferon regulatory factor 1
    Protein Accession:
    P10914
    Secondary Accessions:
    • Q96GG7

    Protein attributes for IRF1 Gene

    Size:
    325 amino acids
    Molecular mass:
    36502 Da
    Quaternary structure:
    • Monomer. Homodimer. Interacts with MYD88 and PIAS3 (By similarity). Interacts with EP300.
    Miscellaneous:
    • Deletion or rearrangement of IRF1 are found in preleukemic myelodysplastic syndrome (MDS) and acute myelogenous leukemia (AML).

neXtProt entry for IRF1 Gene

Protein Expression for IRF1 Gene

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

Post-translational modifications for IRF1 Gene

  • Phosphorylated by CK2 and this positively regulates its activity.
  • Sumoylation represses the transcriptional activity and displays enhanced resistance to protein degradation. Inactivates the tumor suppressor activity. Elevated levels in tumor cells. Major site is Lys-275. Sumoylation is enhanced by PIAS3 (By similarity). Desumoylated by SENP1 in tumor cells and appears to compete with ubiquitination on C-terminal sites.
  • Ubiquitinated. Appears to compete with sumoylation on C-terminal sites.
  • Ubiquitination at Lys50 and Lys299
  • Modification sites at PhosphoSitePlus

Other Protein References for IRF1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for IRF1 Gene

Domains & Families for IRF1 Gene

Gene Families for IRF1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for IRF1 Gene

InterPro:
Blocks:
  • Interferon regulatory factor
ProtoNet:

Suggested Antigen Peptide Sequences for IRF1 Gene

GenScript: Design optimal peptide antigens:
  • Interferon regulatory factor 1 (IRF1_HUMAN)
  • Interferon regulatory factor 1 nirs variant 1 (Q5FBX3_HUMAN)
  • cDNA, FLJ94683, Homo sapiens interferon regulatory factor 1 (IRF1), mRNA (Q6FHN8_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P10914

UniProtKB/Swiss-Prot:

IRF1_HUMAN :
  • Belongs to the IRF family.
Family:
  • Belongs to the IRF family.
genes like me logo Genes that share domains with IRF1: view

Function for IRF1 Gene

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

Molecular function for IRF1 Gene

UniProtKB/Swiss-Prot Function:
Transcriptional regulator which displays a remarkable functional diversity in the regulation of cellular responses. These include the regulation of IFN and IFN-inducible genes, host response to viral and bacterial infections, regulation of many genes expressed during hematopoiesis, inflammation, immune responses and cell proliferation and differentiation, regulation of the cell cycle and induction of growth arrest and programmed cell death following DNA damage. Stimulates both innate and acquired immune responses through the activation of specific target genes and can act as a transcriptional activator and repressor regulating target genes by binding to an interferon-stimulated response element (ISRE) in their promoters. Its target genes for transcriptional activation activity include: genes involved in anti-viral response, such as IFN-alpha/beta, DDX58/RIG-I, TNFSF10/TRAIL, OAS1/2, PIAS1/GBP, EIF2AK2/PKR and RSAD2/viperin; antibacterial response, such as NOS2/INOS; anti-proliferative response, such as p53/TP53, LOX and CDKN1A; apoptosis, such as BBC3/PUMA, CASP1, CASP7 and CASP8; immune response, such as IL7, IL12A/B and IL15, PTGS2/COX2 and CYBB; DNA damage responses and DNA repair, such as POLQ/POLH; MHC class I expression, such as TAP1, PSMB9/LMP2, PSME1/PA28A, PSME2/PA28B and B2M and MHC class II expression, such as CIITA. Represses genes involved in anti-proliferative response, such as BIRC5/survivin, CCNB1, CCNE1, CDK1, CDK2 and CDK4 and in immune response, such as FOXP3, IL4, ANXA2 and TLR4. Stimulates p53/TP53-dependent transcription through enhanced recruitment of EP300 leading to increased acetylation of p53/TP53. Plays an important role in immune response directly affecting NK maturation and activity, macrophage production of IL12, Th1 development and maturation of CD8+ T-cells. Also implicated in the differentiation and maturation of dendritic cells and in the suppression of regulatory T (Treg) cells development. Acts as a tumor suppressor and plays a role not only in antagonism of tumor cell growth but also in stimulating an immune response against tumor cells.
UniProtKB/Swiss-Prot Induction:
By viruses and interferon (IFN).
UniProtKB/Swiss-Prot EnzymeRegulation:
Activated by MYD88.
GENATLAS Biochemistry:
interferon regulatory factor 1,transcriptional activator for IFNA,IFNB and IFN-stimulated genes,a modulator of virus-induced signaling,antioncogene deleted in MDS,AML,differentiated gastric adenocarcinomas (see TSG5D),tumor suppressor transcription factor inducing apoptosis of tumorigenic cell lines

Phenotypes From GWAS Catalog for IRF1 Gene

Gene Ontology (GO) - Molecular Function for IRF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IDA,IMP 15509808
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific ISM 19274049
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific IMP 15509808
GO:0003677 DNA binding TAS 11846971
GO:0003700 DNA-binding transcription factor activity IEA --
genes like me logo Genes that share ontologies with IRF1: view
genes like me logo Genes that share phenotypes with IRF1: view

Human Phenotype Ontology for IRF1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for IRF1 Gene

MGI Knock Outs for IRF1:

Animal Model Products

CRISPR Products

Transcription Factor Targets for IRF1 Gene

Selected GeneGlobe predicted Target genes for IRF1
Targeted motifs for IRF1 Gene
HOMER Transcription Factor Regulatory Elements motif IRF1
  • Consensus sequence: GAAAGTGAAAGT Submotif: canonical Cell Type: PBMC GEO ID: GSE43036

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for IRF1

No data available for Enzyme Numbers (IUBMB) for IRF1 Gene

Localization for IRF1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for IRF1 Gene

Nucleus. Cytoplasm. Note=MYD88-associated IRF1 migrates into the nucleus more efficiently than non-MYD88-associated IRF1.

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 IRF1 gene
Compartment Confidence
nucleus 5
cytosol 5
extracellular 3
plasma membrane 2
cytoskeleton 2
mitochondrion 2
peroxisome 2
endoplasmic reticulum 2
endosome 2
lysosome 2
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for IRF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin IDA,ISA --
GO:0005634 nucleus IBA,TAS 11846971
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm ISS --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with IRF1: view

Pathways & Interactions for IRF1 Gene

genes like me logo Genes that share pathways with IRF1: view

Pathways by source for IRF1 Gene

7 GeneGo (Thomson Reuters) pathways for IRF1 Gene
  • Bacterial infections in CF airways
  • Development Prolactin receptor signaling
  • Immune response Bacterial infections in normal airways
  • Immune response IFN alpha/beta signaling pathway
  • Immune response IFN gamma signaling pathway
1 Qiagen pathway for IRF1 Gene
  • iNOS Signaling
1 Cell Signaling Technology pathway for IRF1 Gene

SIGNOR curated interactions for IRF1 Gene

Activates:
Inactivates:
Is activated by:

Gene Ontology (GO) - Biological Process for IRF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002376 immune system process IBA 21873635
GO:0002819 regulation of adaptive immune response TAS 11846971
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006366 transcription by RNA polymerase II TAS 2475256
GO:0006915 apoptotic process IEA,IDA 19851330
genes like me logo Genes that share ontologies with IRF1: view

Drugs & Compounds for IRF1 Gene

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  1. Drug

(22) Drugs for IRF1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(22) Additional Compounds for IRF1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with IRF1: view

Transcripts for IRF1 Gene

Products:

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

mRNA/cDNA for IRF1 Gene

3 REFSEQ mRNAs :
21 NCBI additional mRNA sequence :
11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for IRF1

Alternative Splicing Database (ASD) splice patterns (SP) for IRF1 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3a · 3b · 3c ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10a · 10b
SP1: - - - -
SP2: - - - - -
SP3: - - - -
SP4: - - -
SP5: -
SP6: - - -
SP7: - - -
SP8: - - - - - -
SP9: - - -
SP10:

Relevant External Links for IRF1 Gene

GeneLoc Exon Structure for
IRF1

Expression for IRF1 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for IRF1 Gene

mRNA expression in normal human tissues for IRF1 Gene
mRNA expression by BioGPS for IRF1 GenemRNA expression by GTEx for IRF1 Gene

mRNA differential expression in normal tissues according to GTEx for IRF1 Gene

This gene is overexpressed in Whole Blood (x14.2).

Protein differential expression in normal tissues from HIPED for IRF1 Gene

This gene is overexpressed in Blymphocyte (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for IRF1 Gene



Protein tissue co-expression partners for IRF1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for IRF1

SOURCE GeneReport for Unigene cluster for IRF1 Gene:

Hs.436061

Evidence on tissue expression from TISSUES for IRF1 Gene

  • Pancreas(4.6)
  • Blood(3.8)
  • Lung(3.7)
  • Spleen(3.5)
  • Lymph node(3.5)
  • Bone marrow(3.4)
  • Intestine(3.2)
  • Liver(3.2)
  • Nervous system(3)
  • Skin(2.9)
  • Kidney(2.9)
  • Heart(2.8)
  • Stomach(2.6)
  • Muscle(2.6)
  • Thyroid gland(2.2)
  • Adrenal gland(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for IRF1 Gene

Germ Layers:
  • endoderm
Systems:
  • digestive
  • respiratory
Regions:
Thorax:
  • lung
Abdomen:
  • stomach
genes like me logo Genes that share expression patterns with IRF1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for IRF1 Gene

Orthologs for IRF1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for IRF1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia IRF1 30 31
  • 99.59 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia IRF1 30 31
  • 90.83 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia IRF1 30 31
  • 89.51 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Irf1 30
  • 85.54 (n)
Mouse
(Mus musculus)
 Mammalia Irf1 30 17 31
  • 84.51 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia IRF1 31
  • 74 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia IRF1 31
  • 69 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves IRF1 30 31
  • 69.27 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia IRF1 31
  • 49 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia irf1 30
  • 59.56 (n)
African clawed frog
(Xenopus laevis)
 Amphibia MGC68691 30
Zebrafish
(Danio rerio)
 Actinopterygii irf1b 30 31
  • 59.6 (n)
 OneToOne
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 15 (a)
 OneToMany
Species where no ortholog for IRF1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • 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)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for IRF1 Gene

ENSEMBL:
Gene Tree for IRF1 (if available)
TreeFam:
Gene Tree for IRF1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for IRF1: view image

Paralogs for IRF1 Gene

Paralogs for IRF1 Gene

(6) SIMAP similar genes for IRF1 Gene using alignment to 9 proteins:

  • IRF1_HUMAN
  • C9J9C5_HUMAN
  • C9JD95_HUMAN
  • F8WCM1_HUMAN
  • Q5FBX3_HUMAN
  • Q6FHN8_HUMAN
  • R4GNI0_HUMAN
  • V9P8K4_HUMAN
  • V9P921_HUMAN
genes like me logo Genes that share paralogs with IRF1: view

Variants for IRF1 Gene

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  1. SNP Genotyping and Copy Number Assay

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for IRF1 Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
790794 Benign: not provided 132,486,973(-) G/C NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
rs121912469 Pathogenic: Neoplasm of stomach. Gastric cancer (GASC) [MIM:613659] 132,489,457(-) T/Ap.Met8Leu MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
rs121912470 Pathogenic: Non-small cell lung cancer. Gastric cancer (GASC) [MIM:613659] 132,489,448(-) A/Gp.Trp11Arg MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT

Additional dbSNP identifiers (rs#s) for IRF1 Gene

Structural Variations from Database of Genomic Variants (DGV) for IRF1 Gene

Variant ID Type Subtype PubMed ID
esv3416328 CNV duplication 20981092
nsv1161299 CNV deletion 26073780

Variation tolerance for IRF1 Gene

Residual Variation Intolerance Score: 19.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.16; 3.69% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for IRF1 Gene

Human Gene Mutation Database (HGMD)
IRF1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
IRF1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for IRF1 Gene

Disorders for IRF1 Gene

MalaCards: The human disease database

(29) MalaCards diseases for IRF1 Gene - From: LncRNADisease, UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
gastric cancer
  • gastric cancer, somatic
lung cancer
  • adenocarcinoma of lung
subacute sclerosing panencephalitis
  • sspe
fanconi anemia, complementation group c
  • fancc
mumps
- elite association - COSMIC cancer census association via MalaCards
Search IRF1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

IRF1_HUMAN
  • Gastric cancer (GASC) [MIM:613659]: A malignant disease which starts in the stomach, can spread to the esophagus or the small intestine, and can extend through the stomach wall to nearby lymph nodes and organs. It also can metastasize to other parts of the body. The term gastric cancer or gastric carcinoma refers to adenocarcinoma of the stomach that accounts for most of all gastric malignant tumors. Two main histologic types are recognized, diffuse type and intestinal type carcinomas. Diffuse tumors are poorly differentiated infiltrating lesions, resulting in thickening of the stomach. In contrast, intestinal tumors are usually exophytic, often ulcerating, and associated with intestinal metaplasia of the stomach, most often observed in sporadic disease. {ECO:0000269 PubMed:10395927, ECO:0000269 PubMed:9679752}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Additional Disease Information for IRF1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with IRF1: view

No data available for Genatlas for IRF1 Gene

Publications for IRF1 Gene

  1. Type I interferons and interferon regulatory factors regulate TNF-related apoptosis-inducing ligand (TRAIL) in HIV-1-infected macrophages. (PMID: 19404407) Huang Y … Zheng JC (PloS one 2009) 3 4 23
  2. Lack of association of interferon regulatory factor 1 with severe malaria in affected child-parental trio studies across three African populations. (PMID: 19145247) Mangano VD … Rockett KA (PloS one 2009) 3 23 41
  3. IRF-1 gene variations influence IgE regulation and atopy. (PMID: 18079498) Schedel M … Kabesch M (American journal of respiratory and critical care medicine 2008) 3 23 41
  4. Multiple sclerosis and hepatitis C virus infection are associated with single nucleotide polymorphisms in interferon pathway genes. (PMID: 18338947) Fortunato G … Sacchetti L (Journal of interferon & cytokine research : the official journal of the International Society for Interferon and Cytokine Research 2008) 3 23 41
  5. Elevated level of SUMOylated IRF-1 in tumor cells interferes with IRF-1-mediated apoptosis. (PMID: 17942705) Park J … Lee JH (Proceedings of the National Academy of Sciences of the United States of America 2007) 3 4 23

ExternalLinks

View latest publications for IRF1 gene in Mastermind

Products for IRF1 Gene

  • Addgene plasmids for IRF1
  • Signalway ELISA kits for IRF1
  • Signalway Proteins for IRF1

Sources for IRF1 Gene