ENSG00000118503


Homo sapiens

Features
Gene ID: ENSG00000118503
  
Biological name :TNFAIP3
  
Synonyms : P21580 / TNFAIP3 / TNF alpha induced protein 3
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 6
Strand: 1
Band: q23.3
Gene start: 137867188
Gene end: 137883312
  
Corresponding Affymetrix probe sets: 202643_s_at (Human Genome U133 Plus 2.0 Array)   202644_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000409845
Ensembl peptide - ENSP00000478438
Ensembl peptide - ENSP00000484332
Ensembl peptide - ENSP00000481570
Ensembl peptide - ENSP00000481454
Ensembl peptide - ENSP00000481122
Ensembl peptide - ENSP00000479556
Ensembl peptide - ENSP00000237289
Ensembl peptide - ENSP00000393577
Ensembl peptide - ENSP00000401562
NCBI entrez gene - 7128     See in Manteia.
OMIM - 191163
RefSeq - NM_006290
RefSeq - XM_011536096
RefSeq - XM_011536095
RefSeq - XM_006715555
RefSeq - XM_005267119
RefSeq - NM_001270507
RefSeq - NM_001270508
RefSeq Peptide - NP_001257437
RefSeq Peptide - NP_001257436
RefSeq Peptide - NP_006281
swissprot - A0A087X1N1
swissprot - P21580
swissprot - Q5VXQ8
swissprot - Q5VXQ9
swissprot - Q5VXR0
swissprot - A0A087WU80
swissprot - A0A087WVN3
swissprot - A0A087WXL5
swissprot - D3TTY5
Ensembl - ENSG00000118503
  
Related genetic diseases (OMIM): 616744 - Autoinflammatory syndrome, familial, Behcet-like, 616744
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 tnfaip3ENSDARG00000027777Danio rerio
 TNFAIP3ENSGALG00000013861Gallus gallus
 Q60769ENSMUSG00000019850Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
OTUD7B / Q6GQQ9 / OTU deubiquitinase 7BENSG0000026452223
OTUD7A / Q8TE49 / OTU deubiquitinase 7AENSG0000016991823
Q9UGI0 / ZRANB1 / zinc finger RANBP2-type containing 1ENSG0000001999514


Protein motifs (from Interpro)
Interpro ID Name
 IPR002653  Zinc finger, A20-type
 IPR003323  OTU domain
 IPR033478  A20 peptidase


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001922 B-1 B cell homeostasis IEA
 biological_processGO:0002237 response to molecule of bacterial origin IEA
 biological_processGO:0002634 regulation of germinal center formation IEA
 biological_processGO:0002677 negative regulation of chronic inflammatory response IEA
 biological_processGO:0006508 proteolysis IEA
 biological_processGO:0006915 apoptotic process IEA
 biological_processGO:0006954 inflammatory response IEA
 biological_processGO:0008152 metabolic process IEA
 biological_processGO:0010803 regulation of tumor necrosis factor-mediated signaling pathway TAS
 biological_processGO:0016567 protein ubiquitination IEA
 biological_processGO:0016579 protein deubiquitination IEA
 biological_processGO:0031397 negative regulation of protein ubiquitination IDA
 biological_processGO:0032088 negative regulation of NF-kappaB transcription factor activity IDA
 biological_processGO:0032480 negative regulation of type I interferon production TAS
 biological_processGO:0032495 response to muramyl dipeptide IEA
 biological_processGO:0032691 negative regulation of interleukin-1 beta production IEA
 biological_processGO:0032703 negative regulation of interleukin-2 production IMP
 biological_processGO:0032715 negative regulation of interleukin-6 production IEA
 biological_processGO:0032720 negative regulation of tumor necrosis factor production IEA
 biological_processGO:0034136 negative regulation of toll-like receptor 2 signaling pathway NAS
 biological_processGO:0034140 negative regulation of toll-like receptor 3 signaling pathway IDA
 biological_processGO:0034144 negative regulation of toll-like receptor 4 signaling pathway NAS
 biological_processGO:0034148 negative regulation of toll-like receptor 5 signaling pathway IEA
 biological_processGO:0035871 protein K11-linked deubiquitination IDA
 biological_processGO:0043124 negative regulation of I-kappaB kinase/NF-kappaB signaling IEA
 biological_processGO:0045732 positive regulation of protein catabolic process IDA
 biological_processGO:0045736 negative regulation of cyclin-dependent protein serine/threonine kinase activity IEA
 biological_processGO:0045779 negative regulation of bone resorption NAS
 biological_processGO:0045824 negative regulation of innate immune response IEA
 biological_processGO:0048662 negative regulation of smooth muscle cell proliferation IDA
 biological_processGO:0050691 regulation of defense response to virus by host NAS
 biological_processGO:0050727 regulation of inflammatory response IBA
 biological_processGO:0050728 negative regulation of inflammatory response IEA
 biological_processGO:0050869 negative regulation of B cell activation IEA
 biological_processGO:0051259 protein complex oligomerization NAS
 biological_processGO:0060548 negative regulation of cell death IEA
 biological_processGO:0061043 regulation of vascular wound healing NAS
 biological_processGO:0070301 cellular response to hydrogen peroxide IEA
 biological_processGO:0070423 nucleotide-binding oligomerization domain containing signaling pathway TAS
 biological_processGO:0070429 negative regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway IEA
 biological_processGO:0070433 negative regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway IEA
 biological_processGO:0070536 protein K63-linked deubiquitination IEA
 biological_processGO:0070936 protein K48-linked ubiquitination IDA
 biological_processGO:0071108 protein K48-linked deubiquitination IDA
 biological_processGO:0071222 cellular response to lipopolysaccharide IDA
 biological_processGO:0071947 protein deubiquitination involved in ubiquitin-dependent protein catabolic process IBA
 biological_processGO:0072573 tolerance induction to lipopolysaccharide IMP
 biological_processGO:0072666 establishment of protein localization to vacuole IEA
 biological_processGO:0090291 negative regulation of osteoclast proliferation NAS
 biological_processGO:1902042 negative regulation of extrinsic apoptotic signaling pathway via death domain receptors IDA
 biological_processGO:1903364 positive regulation of cellular protein catabolic process IEA
 biological_processGO:2000347 positive regulation of hepatocyte proliferation IEA
 biological_processGO:2000349 negative regulation of CD40 signaling pathway IMP
 biological_processGO:2000352 negative regulation of endothelial cell apoptotic process IDA
 cellular_componentGO:0005634 nucleus IDA
 cellular_componentGO:0005737 cytoplasm IBA
 cellular_componentGO:0005764 lysosome IEA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0043231 intracellular membrane-bounded organelle IDA
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0002020 protease binding IPI
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0003824 catalytic activity IEA
 molecular_functionGO:0004842 ubiquitin-protein transferase activity IDA
 molecular_functionGO:0004843 thiol-dependent ubiquitin-specific protease activity TAS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008233 peptidase activity IEA
 molecular_functionGO:0008234 cysteine-type peptidase activity IEA
 molecular_functionGO:0008270 zinc ion binding IEA
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0016787 hydrolase activity IEA
 molecular_functionGO:0019900 kinase binding IEA
 molecular_functionGO:0036459 thiol-dependent ubiquitinyl hydrolase activity IMP
 molecular_functionGO:0042802 identical protein binding IPI
 molecular_functionGO:0043130 ubiquitin binding IPI
 molecular_functionGO:0043621 protein self-association IDA
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0061578 Lys63-specific deubiquitinase activity TAS
 molecular_functionGO:0070530 K63-linked polyubiquitin modification-dependent protein binding IBA


Pathways (from Reactome)
Pathway description
NOD1/2 Signaling Pathway
TNFR1-induced proapoptotic signaling
Regulation of TNFR1 signaling
TNFR1-induced NFkappaB signaling pathway
Ovarian tumor domain proteases
Negative regulators of DDX58/IFIH1 signaling


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000155 Oral ulcers 
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 HP:0000988 Skin rash 
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 HP:0001873 Thrombocytopenia 
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 HP:0001878 Hemolytic anemia 
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 HP:0001888 Lymphopenia 
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 HP:0001954 Fever, episodic "Periodic (episodic or recurrent) bouts of fever that do not have an infectious cause." [HPO:curators]
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 HP:0002583 Severe colitis 
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 HP:0003249 Genital ulcers 
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 HP:0003493 Antinuclear antibody positive 
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 HP:0005764 Polyarticular arthritis 
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 HP:0012122 Anterior uveitis "Inflammation of the uveal tract in which the primary site of inflammation is the anterior chamber." [HPO:probinson]
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 HP:0025343 Lupus anticoagulant "Presence of lupus anticoagulant (LA) autoantiboides. LA represent a heterogeneous group of autoantibodies, IgG, IgM, or a mixture of both classes, that interfere with standard phospholipid-based coagulant tests (this is only an in vitro phenomenon, LA do not cause reduction of coagulation in vivo). The antibodies are directed against plasma proteins which also bind to phospholipid surfaces." []
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000050730 TNIP3 / Q96KP6 / TNFAIP3 interacting protein 3  / complex / reaction
 ENSG00000269335 IKBKG / Q9Y6K9 / inhibitor of nuclear factor kappa B kinase subunit gamma  / reaction
 ENSG00000167207 NOD2 / Q9HC29 / nucleotide binding oligomerization domain containing 2  / reaction
 ENSG00000104312 RIPK2 / O43353 / receptor interacting serine/threonine kinase 2  / reaction
 ENSG00000106100 NOD1 / Q9Y239 / nucleotide binding oligomerization domain containing 1  / reaction
 ENSG00000106052 Q86VP1 / TAX1BP1 / Tax1 binding protein 1  / complex
 ENSG00000137275 RIPK1 / Q13546 / receptor interacting serine/threonine kinase 1  / complex
 ENSG00000168884 TNIP2 / Q8NFZ5 / TNFAIP3 interacting protein 2  / complex / reaction
 ENSG00000183735 TBK1 / Q9UHD2 / TANK binding kinase 1  / complex / reaction
 ENSG00000145901 TNIP1 / Q15025 / TNFAIP3 interacting protein 1  / reaction / complex
 ENSG00000175104 TRAF6 / Q9Y4K3 / TNF receptor associated factor 6  / complex
 ENSG00000263528 IKBKE / Q14164 / inhibitor of nuclear factor kappa B kinase subunit epsilon  / reaction / complex






 

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