TNFRSF1A
entrez
7132
canonical
uniprot
P19438
canonical
ensembl
ENSG00000067182
resolver
ensp
ENSP00000162749
resolver
genesymbol
TNFRSF1A
resolver
genesymbol_syn
TNFAR
resolver
genesymbol_syn
TNFR1
resolver
hgnc
HGNC:11916
resolver
uniprot
A8K4X3
resolver
uniprot
B2RDE4
resolver
uniprot
B3KPQ1
resolver
uniprot
B4DQB7
resolver
uniprot
B4E309
resolver
uniprot
B5M0B5
resolver
uniprot
D3DUR1
resolver
uniprot
J9PH39
resolver
uniprot
Q9UCA4
resolver
uniprot_entry
J9PH39_HUMAN
resolver
uniprot_entry
TNR1A_HUMAN
resolver
uniprot_sec
A8K4X3
resolver
uniprot_sec
B2RDE4
resolver
uniprot_sec
B3KPQ1
resolver
uniprot_sec
B4DQB7
resolver
uniprot_sec
B4E309
resolver
uniprot_sec
B5M0B5
resolver
uniprot_sec
D3DUR1
resolver
uniprot_sec
Q9UCA4
resolver
amino_acid_sequence
MGLSTVPDLLLPLVLLELLVGIYPSGVIGLVPHLGDREKRDSVCPQGKYIHPQNNSICCTKCHKGTYLYNDCPGPGQDTDCRECESGSFTASENHLRHCLSCSKCRKEMGQVEISSCTVDRDTVCGCRKNQYRHYWSENLFQCFNCSLCLNGTVHLSCQEKQNTVCTCHAGFFLRENECVSCSNCKKSLECTKLCLPQIENVKGTEDSGTTVLLPLVIFFGLCLLSLLFIGLMYRYQRWKSKLYSIVCGKSTPEKEGELEGTTTKPLAPNPSFSPTPGFTPTLGFSPVPSSTFTSSSTYTPGDCPNFAAPRREVAPPYQGADPILATALASDPIPNPLQKWEDSAHKPQSLDTDDPATLYAVVENVPPLRWKEFVRRLGLSDHEIDRLELQNGRCLREAQYSMLATWRRRTPRREATLELLGRVLRDMDLLGCLEDIEEALCGPAALPPAPSLLR
uniprot
proteins
disease_involvement
DISEASE: Periodic fever, familial, autosomal dominant (FPF) [MIM:142680]: A hereditary periodic fever syndrome characterized by recurrent fever, abdominal pain, localized tender skin lesions and myalgia. Reactive amyloidosis is the main complication and occurs in 25% of cases. {ECO:0000269|PubMed:10199409, ECO:0000269|PubMed:10902757, ECO:0000269|PubMed:11443543, ECO:0000269|PubMed:13130484, ECO:0000269|PubMed:14610673}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Multiple sclerosis 5 (MS5) [MIM:614810]: A multifactorial, inflammatory, demyelinating disease of the central nervous system. Sclerotic lesions are characterized by perivascular infiltration of monocytes and lymphocytes and appear as indurated areas in pathologic specimens (sclerosis in plaques). The pathological mechanism is regarded as an autoimmune attack of the myelin sheath, mediated by both cellular and humoral immunity. Clinical manifestations include visual loss, extra-ocular movement disorders, paresthesias, loss of sensation, weakness, dysarthria, spasticity, ataxia and bladder dysfunction. Genetic and environmental factors influence susceptibility to the disease. {ECO:0000269|PubMed:22801493}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry. An intronic mutation affecting alternative splicing and skipping of exon 6 directs increased expression of isoform 4 a transcript encoding a C-terminally truncated protein which is secreted and may function as a TNF antagonist.
uniprot
proteins
function
FUNCTION: Receptor for TNFSF2/TNF and homotrimeric TNFSF1/lymphotoxin-alpha. The adapter molecule FADD recruits caspase-8 to the activated receptor. The resulting death-inducing signaling complex (DISC) performs caspase-8 proteolytic activation which initiates the subsequent cascade of caspases (aspartate-specific cysteine proteases) mediating apoptosis. Contributes to the induction of non-cytocidal TNF effects including anti-viral state and activation of the acid sphingomyelinase.
uniprot
proteins
mass_dalton
50495
uniprot
proteins
mutagenesis
MUTAGEN 376; /note="R->A: Abolished GlcNAcylation by E.coli NleB1."; /evidence="ECO:0000269|PubMed:30979585
uniprot
proteins
post_translational_modification
PTM: The soluble form is produced from the membrane form by proteolytic processing.; PTM: (Microbial infection) Glycosylated at Arg-376 by enteropathogenic E.coli protein NleB1 and S.typhimurium protein Ssek3: arginine GlcNAcylation prevents homotypic/heterotypic death domain interactions. {ECO:0000269|PubMed:32766249, ECO:0000305|PubMed:23955153}.
uniprot
proteins
pubmed
10199409
uniprot
proteins
pubmed
10356400
uniprot
proteins
pubmed
10359574
uniprot
proteins
pubmed
10542291
uniprot
proteins
pubmed
10902757
uniprot
proteins
pubmed
11443543
uniprot
proteins
pubmed
13130484
uniprot
proteins
pubmed
1315717
uniprot
proteins
pubmed
14610673
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15247912
uniprot
proteins
pubmed
15465831
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16541075
uniprot
proteins
pubmed
16709567
uniprot
proteins
pubmed
1698610
uniprot
proteins
pubmed
1702293
uniprot
proteins
pubmed
19906316
uniprot
proteins
pubmed
2153136
uniprot
proteins
pubmed
2158862
uniprot
proteins
pubmed
2158863
uniprot
proteins
pubmed
2170974
uniprot
proteins
pubmed
21976655
uniprot
proteins
pubmed
22801493
uniprot
proteins
pubmed
23955153
uniprot
proteins
pubmed
24130170
uniprot
proteins
pubmed
26183779
uniprot
proteins
pubmed
28659487
uniprot
proteins
pubmed
30979585
uniprot
proteins
pubmed
32766249
uniprot
proteins
pubmed
8015639
uniprot
proteins
pubmed
8387891
uniprot
proteins
pubmed
8939750
uniprot
proteins
pubmed
9115275
uniprot
proteins
pubmed
9557650
uniprot
proteins
pubmed
9915703
uniprot
proteins
sequence_length
455
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:22801493}; Single-pass type I membrane protein {ECO:0000269|PubMed:22801493}. Golgi apparatus membrane {ECO:0000269|PubMed:22801493}; Single-pass type I membrane protein {ECO:0000269|PubMed:22801493}. Secreted {ECO:0000269|PubMed:22801493}. Note=A secreted form is produced through proteolytic processing.; SUBCELLULAR LOCATION: [Isoform 4]: Secreted. Note=Lacks a Golgi-retention motif, is not membrane bound and therefore is secreted.
uniprot
proteins
transmembrane_region
TRANSMEM 212..232; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins