Tumor necrosis factor receptor 1 (TNFR1), also known as tumor necrosis factor receptor superfamily member 1A (TNFRSF1A) and CD120a, is a ubiquitous membrane receptor that binds tumor necrosis factor-alpha (TNFα).
| TNFRSF1A |
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| Available structures |
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| PDB | Ortholog search: PDBe RCSB |
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| List of PDB id codes |
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1EXT, 1FT4, 1ICH, 1NCF, 1TNR |
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| Identifiers |
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| Aliases | TNFRSF1A, CD120a, FPF, MS5, TBP1, TNF-R, TNF-R-I, TNF-R55, TNFAR, TNFR1, TNFR1-d2, TNFR55, TNFR60, p55, p55-R, p60, tumor necrosis factor receptor superfamily member 1A, TNF receptor superfamily member 1A |
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| External IDs | OMIM: 191190; MGI: 1314884; HomoloGene: 828; GeneCards: TNFRSF1A; OMA:TNFRSF1A - orthologs |
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| Gene location (Human) |
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| | Chr. | Chromosome 12 (human) |
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| | Band | 12p13.31 | Start | 6,328,757 bp |
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| End | 6,342,114 bp |
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| Gene location (Mouse) |
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| | Chr. | Chromosome 6 (mouse) |
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| | Band | 6 F3|6 59.32 cM | Start | 125,326,325 bp |
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| End | 125,339,447 bp |
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| RNA expression pattern |
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| Bgee | | Human | Mouse (ortholog) |
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| Top expressed in | - tendon of biceps brachii
- gallbladder
- left uterine tube
- epithelium of colon
- right coronary artery
- upper lobe of left lung
- left adrenal cortex
- Descending thoracic aorta
- pericardium
- blood
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| | Top expressed in | - granulocyte
- tibiofemoral joint
- saccule
- lip
- stroma of bone marrow
- otic placode
- esophagus
- calvaria
- otic vesicle
- ankle
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| | More reference expression data |
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| BioGPS | | | More reference expression data |
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| Gene ontology |
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| Molecular function | - protein binding
- tumor necrosis factor-activated receptor activity
- tumor necrosis factor binding
- identical protein binding
| | Cellular component | - integral component of membrane
- Golgi apparatus
- membrane
- Golgi membrane
- receptor complex
- plasma membrane
- integral component of plasma membrane
- extracellular region
- cell surface
- mitochondrion
- membrane raft
- extracellular space
- tumor necrosis factor receptor superfamily complex
| | Biological process | - regulation of apoptotic process
- prostaglandin metabolic process
- defense response
- positive regulation of ceramide biosynthetic process
- positive regulation of inflammatory response
- regulation of tumor necrosis factor-mediated signaling pathway
- tumor necrosis factor-mediated signaling pathway
- response to lipopolysaccharide
- cellular response to mechanical stimulus
- death-inducing signaling complex assembly
- regulation of cell population proliferation
- defense response to bacterium
- immune response
- intrinsic apoptotic signaling pathway in response to DNA damage
- positive regulation of I-kappaB kinase/NF-kappaB signaling
- viral process
- I-kappaB kinase/NF-kappaB signaling
- negative regulation of inflammatory response
- regulation of establishment of endothelial barrier
- extrinsic apoptotic signaling pathway via death domain receptors
- positive regulation of transcription by RNA polymerase II
- signal transduction
- apoptotic process
- inflammatory response
- cell surface receptor signaling pathway
- positive regulation of tyrosine phosphorylation of STAT protein
- protein localization to plasma membrane
- cytokine-mediated signaling pathway
- aortic valve development
- pulmonary valve development
- negative regulation of extracellular matrix constituent secretion
- negative regulation of cardiac muscle hypertrophy
- positive regulation of apoptotic process involved in morphogenesis
| | Sources:Amigo / QuickGO |
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| Orthologs |
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| Species | Human | Mouse |
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| Entrez | | |
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| Ensembl | | |
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| UniProt | | |
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| RefSeq (mRNA) | |
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NM_001065
NM_001346091
NM_001346092 |
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| RefSeq (protein) | |
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NP_001056
NP_001333020
NP_001333021 |
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| Location (UCSC) | Chr 12: 6.33 – 6.34 Mb | Chr 6: 125.33 – 125.34 Mb |
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| PubMed search | | |
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| Wikidata |
| View/Edit Human | View/Edit Mouse |
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Function
The protein encoded by this gene is a member of the tumor necrosis factor receptor superfamily, which also contains TNFRSF1B. This protein is one of the major receptors for the tumor necrosis factor-alpha. This receptor can activate the transcription factor NF-κB, mediate apoptosis, and function as a regulator of inflammation. Antiapoptotic protein BCL2-associated athanogene 4 (BAG4/SODD) and adaptor proteins TRADD and TRAF2 have been shown to interact with this receptor, and thus play regulatory roles in the signal transduction mediated by the receptor.
Clinical significance
Germline mutations of the extracellular domains of this receptor were found to be associated with the human genetic disorder called tumor necrosis factor associated periodic syndrome (TRAPS) or periodic fever syndrome. Impaired receptor clearance is thought to be a mechanism of the disease.
Mutations in the TNFRSF1A gene are associated with elevated risk of multiple sclerosis.
Serum levels of TNFRSF1A are elevated in schizophrenia and bipolar disorder, and high levels are associated with more severe psychotic symptoms.
High serum levels are also associated with cognitive impairment and dementia.
Interactions
TNFRSF1A has been shown to interact with:
- BAG4,
- CASP10,
- FADD,
- IKK2,
- JAK1,
- JAK2,
- PIP4K2B,
- PSMD2,
- RIPK1,
- SUMO1,
- TRADD
- TRAF2,
- TRPC4AP,
- TNF, and
- UBE2I.
See also
wikipedia, wiki, encyclopedia, book, library, article, read, free download, Information about Tumor necrosis factor receptor 1, What is Tumor necrosis factor receptor 1? What does Tumor necrosis factor receptor 1 mean?