TNR1A_HUMAN
Source:
BD_CD
Marked as 'Integral membrane protein'
Confidence:
high (a blood group or CD marker)
Search PubMed for
(RBC AND this entry)
Gene names:
TNFRSF1A
, TNFAR, TNFR1
Protein names and data:
TNR1A_HUMAN
, Tumor necrosis factor receptor superfamily member 1A
, Tumor necrosis factor receptor 1; TNF-R1; Tumor necrosis factor receptor type I; TNF-RI; TNFR-I; p55; p60; CD120a; Tumor necrosis factor receptor superfamily member 1A, membrane form; Tumor necrosis factor-binding protein 1; TBPI; Flags: Precursor
Lenght: 455 a.a.
Mass: 50495 Da
fasta formatted sequence
Function:
Receptor for TNFSF2/TNF-alpha 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.
Disease:
( OMIM:
142680
191190
614810
)
Familial hibernian fever (FHF) [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. Note=The disease is caused by mutations affecting the gene represented in this entry. 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. Note=Disease susceptibility is associated with variations 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.
Cellular location:
Cell membrane; Single-pass type I membrane protein. Golgi apparatus membrane; Single-pass type I membrane protein. Secreted. Note=A secreted form is produced through proteolytic processing. Isoform 4: Secreted. Note=Lacks a Golgi- retention motif, is not membrane bound and therefore is secreted.
Genetic variants
51 - 51
H -> Q (in FHF). VAR_019329
59 - 59
C -> R (in FHF). VAR_013410
59 - 59
C -> S (in FHF). VAR_019302
62 - 62
C -> G (in FHF). VAR_019303
62 - 62
C -> Y (in FHF). VAR_013411
75 - 75
P -> L (in FHF; may be a polymorphism; dbSNP:rs4149637). VAR_019330
4149637
79 - 79
T -> M (in FHF). VAR_013412
81 - 81
C -> F (in FHF). VAR_013413
99 - 99
C -> S (in FHF). VAR_019304
115 - 115
S -> G (in FHF). VAR_019331
117 - 117
C -> R (in FHF). VAR_013414
117 - 117
C -> Y (in FHF). VAR_013415
121 - 121
R -> P (in FHF; dbSNP:rs4149584). VAR_019305
4149584
121 - 121
R -> Q (in FHF; may be a polymorphism; dbSNP:rs4149584). VAR_019332
4149584
305 - 305
P -> T (in dbSNP:rs1804532). VAR_011813
1804532
Database cross-references
UniProt:
P19438
Ensembl:
ENST00000162749
Ensembl:
ENST00000366159
MIM:
142680
MIM:
191190
MIM:
614810
neXtProt:
NX_P19438
Antibodypedia:
P19438
(may not find the protein thus also not any antibody)
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