TNR6_HUMAN
Source:
PM23856902
PM22954596
Marked as 'Integral membrane protein'
Confidence:
medium (present in either hRBCD or BSc_CH or PM22954596)
Search PubMed for
(RBC AND this entry)
Gene names:
FAS
, APT1, FAS1, TNFRSF6
Protein names and data:
TNR6_HUMAN
, Tumor necrosis factor receptor superfamily member 6
, Apo-1 antigen; Apoptosis-mediating surface antigen FAS; FASLG receptor; CD95; Flags: Precursor
Lenght: 335 a.a.
Mass: 37732 Da
fasta formatted sequence
Function:
Receptor for TNFSF6/FASLG. 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. FAS- mediated apoptosis may have a role in the induction of peripheral tolerance, in the antigen-stimulated suicide of mature T-cells, or both. The secreted isoforms 2 to 6 block apoptosis (in vitro).
Disease:
( OMIM:
134637
601859
)
Autoimmune lymphoproliferative syndrome 1A (ALPS1A) [MIM:601859]: A disorder of apoptosis that manifests in early childhood and results in the accumulation of autoreactive lymphocytes. It is characterized by non-malignant lymphadenopathy with hepatosplenomegaly, and autoimmune hemolytic anemia, thrombocytopenia and neutropenia. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location:
Isoform 1: Cell membrane; Single-pass type I membrane protein. Isoform 2: Secreted. Isoform 3: Secreted. Isoform 4: Secreted. Isoform 5: Secreted. Isoform 6: Secreted.
Tissue specificity:
Isoform 1 and isoform 6 are expressed at equal levels in resting peripheral blood mononuclear cells. After activation there is an increase in isoform 1 and decrease in the levels of isoform 6.
Genetic variants
16 - 16
A -> T (in dbSNP:rs3218619). VAR_020008
3218619
25 - 25
A -> T (in non-Hodgkin lymphoma; somatic mutation). VAR_013416
28 - 28
T -> A (in ALPS1A; associated with autoimmune hepatitis type 2). VAR_013417
82 - 82
C -> R (in ALPS1A). VAR_013418
118 - 118
N -> S (in squamous cell carcinoma; burn- scar related; somatic mutation). VAR_018321
121 - 121
R -> W (in ALPS1A). VAR_013419
122 - 122
T -> I (in dbSNP:rs3218614). VAR_020009
3218614
178 - 178
C -> R (in squamous cell carcinoma; burn- scar related; somatic mutation). VAR_018322
180 - 180
L -> F (in non-Hodgkin lymphoma; somatic mutation). VAR_013420
183 - 183
P -> L (in non-Hodgkin lymphoma; somatic mutation). VAR_013421
184 - 184
I -> V (in dbSNP:rs28362322). VAR_052347
28362322
198 - 198
T -> I (in non-Hodgkin lymphoma; somatic mutation). VAR_013422
232 - 232
Y -> C (in ALPS1A; no effect on interaction with FADD). VAR_013423
241 - 241
T -> K (in ALPS1A). VAR_013424
241 - 241
T -> P (in ALPS1A). VAR_013425
249 - 249
V -> L (in ALPS1A). VAR_065128
250 - 250
R -> P (in ALPS1A). VAR_013426
250 - 250
R -> Q (in ALPS1A; no effect on interaction with FADD). VAR_013427
253 - 253
G -> D (in ALPS1A). VAR_065129
253 - 253
G -> S (in ALPS1A). VAR_065130
255 - 255
N -> D (in squamous cell carcinoma; burn- scar related; somatic mutation). VAR_018323
257 - 257
A -> D (in ALPS1A; loss of interaction with FADD). VAR_013428
259 - 259
I -> R (in ALPS1A). VAR_065131
260 - 260
D -> G (in ALPS1A). VAR_013429
260 - 260
D -> V (in ALPS1A; also found in non- Hodgkin lymphoma; somatic mutation; loss of interaction with FADD; dbSNP:rs28929498). VAR_013431
28929498
260 - 260
D -> Y (in ALPS1A; loss of interaction with FADD). VAR_013430
262 - 262
I -> S (in ALPS1A). VAR_058910
264 - 264
N -> K (in non-Hodgkin lymphoma; somatic mutation). VAR_013432
270 - 270
T -> I (in ALPS1A). VAR_013433
270 - 270
T -> K (in ALPS1A; loss of interaction with FADD). VAR_065132
272 - 272
E -> G (in ALPS1A). VAR_013434
272 - 272
E -> K (in ALPS1A; also found in non- Hodgkin lymphoma; somatic mutation; loss of interaction with FADD). VAR_013435
278 - 278
L -> F (in non-Hodgkin lymphoma; somatic mutation). VAR_013436
299 - 299
K -> N (in non-Hodgkin lymphoma; somatic mutation). VAR_013437
305 - 305
T -> I (in dbSNP:rs3218611). VAR_020942
3218611
310 - 310
I -> S (in ALPS1A). VAR_013438
Database cross-references
UniProt:
P25445
Ensembl:
ENST00000355279
Ensembl:
ENST00000355740
Ensembl:
ENST00000357339
Ensembl:
ENST00000479522
Ensembl:
ENST00000484444
Ensembl:
ENST00000488877
Ensembl:
ENST00000492756
Ensembl:
ENST00000494410
MIM:
134637
MIM:
601859
neXtProt:
NX_P25445
Antibodypedia:
P25445
(may not find the protein thus also not any antibody)
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