TNFRSF1A (TNF receptor superfamily member 1A)
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Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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7132 |
Gene nameGene Name - the full gene name approved by the HGNC.
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TNF receptor superfamily member 1A |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
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TNFRSF1A |
SynonymsGene synonyms aliases
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CD120a, FPF, TBP1, TNF-R, TNF-R-I, TNF-R55, TNFAR, TNFR1, TNFR55, TNFR60, p55, p55-R, p60 |
ChromosomeChromosome number
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12 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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12p13.31 |
SummarySummary of gene provided in NCBI Entrez Gene.
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This gene encodes a member of the TNF receptor superfamily of proteins. The encoded receptor is found in membrane-bound and soluble forms that interact with membrane-bound and soluble forms, respectively, of its ligand, tumor necrosis factor alpha. Bindin |
SNPsSNP information provided by dbSNP.
|
SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs1800693 |
T>C |
Benign, risk-factor, likely-benign |
Intron variant |
rs4149584 |
C>G,T |
Conflicting-interpretations-of-pathogenicity, pathogenic |
Coding sequence variant, 5 prime UTR variant, missense variant, non coding transcript variant |
rs34751757 |
G>A,T |
Not-provided, conflicting-interpretations-of-pathogenicity |
Non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant |
rs104895217 |
A>G |
Pathogenic |
Non coding transcript variant, 5 prime UTR variant, intron variant, coding sequence variant, missense variant |
rs104895218 |
C>T |
Pathogenic |
Non coding transcript variant, 5 prime UTR variant, intron variant, coding sequence variant, missense variant |
rs104895219 |
G>A,T |
Pathogenic, not-provided |
Non coding transcript variant, coding sequence variant, 5 prime UTR variant, missense variant |
rs104895220 |
C>A,T |
Pathogenic, not-provided |
Non coding transcript variant, coding sequence variant, 5 prime UTR variant, missense variant |
rs104895221 |
A>G |
Pathogenic |
Non coding transcript variant, coding sequence variant, 5 prime UTR variant, missense variant |
rs104895222 |
C>T |
Pathogenic |
Non coding transcript variant, coding sequence variant, 5 prime UTR variant, missense variant |
rs104895223 |
C>A,G,T |
Pathogenic, not-provided, uncertain-significance |
Non coding transcript variant, 5 prime UTR variant, intron variant, coding sequence variant, missense variant |
rs104895224 |
C>G,T |
Pathogenic, not-provided |
Non coding transcript variant, coding sequence variant, 5 prime UTR variant, missense variant |
rs104895225 |
A>C |
Pathogenic, likely-pathogenic |
Non coding transcript variant, 5 prime UTR variant, intron variant, coding sequence variant, missense variant |
rs104895228 |
A>C,G,T |
Pathogenic, not-provided |
Non coding transcript variant, coding sequence variant, 5 prime UTR variant, missense variant |
rs104895232 |
A>G |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, 5 prime UTR variant, missense variant |
rs104895245 |
A>C,G |
Likely-pathogenic, not-provided, uncertain-significance |
Non coding transcript variant, coding sequence variant, 5 prime UTR variant, missense variant |
rs104895247 |
A>G,T |
Pathogenic, not-provided, uncertain-significance |
Coding sequence variant, intron variant, missense variant |
rs104895253 |
A>G |
Likely-pathogenic, not-provided |
Non coding transcript variant, coding sequence variant, 5 prime UTR variant, missense variant |
rs104895271 |
A>C,G |
Likely-benign, pathogenic, likely-pathogenic |
Synonymous variant, non coding transcript variant, 5 prime UTR variant, intron variant, coding sequence variant, missense variant |
rs104895276 |
G>A,C |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, 5 prime UTR variant, missense variant |
rs200900510 |
C>T |
Benign, pathogenic, conflicting-interpretations-of-pathogenicity |
Missense variant, non coding transcript variant, coding sequence variant |
rs756455040 |
G>T |
Conflicting-interpretations-of-pathogenicity |
Non coding transcript variant, synonymous variant, coding sequence variant |
rs876661014 |
G>C |
Uncertain-significance, likely-pathogenic |
5 prime UTR variant, coding sequence variant, non coding transcript variant, missense variant |
rs876661031 |
C>T |
Likely-pathogenic |
5 prime UTR variant, coding sequence variant, non coding transcript variant, missense variant |
rs886039866 |
G>A |
Pathogenic |
5 prime UTR variant, coding sequence variant, non coding transcript variant, missense variant |
rs1555108112 |
C>G,T |
Likely-pathogenic |
Missense variant, non coding transcript variant, 5 prime UTR variant, coding sequence variant |
rs1592047560 |
->TGTGTCTTGCAC |
Pathogenic |
5 prime UTR variant, coding sequence variant, non coding transcript variant, inframe insertion |
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miRNAmiRNA information provided by mirtarbase database.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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GO ID |
Ontology |
Definition |
Evidence |
Reference |
GO:0000139 |
Component |
Golgi membrane |
IDA |
22801493 |
GO:0002947 |
Component |
Tumor necrosis factor receptor superfamily complex |
TAS |
24966471 |
GO:0003176 |
Process |
Aortic valve development |
ISS |
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GO:0003177 |
Process |
Pulmonary valve development |
ISS |
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GO:0003332 |
Process |
Negative regulation of extracellular matrix constituent secretion |
ISS |
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GO:0005031 |
Function |
Tumor necrosis factor-activated receptor activity |
IBA |
21873635 |
GO:0005031 |
Function |
Tumor necrosis factor-activated receptor activity |
TAS |
2158863 |
GO:0005515 |
Function |
Protein binding |
IPI |
1087798, 2848815, 7758105, 8565075, 8943045, 8985253, 9115275, 10848577, 11684708, 12887920, 14743216, 15465831, 16611992, 18022363, 19524513, 19641494, 19781631, 20080539, 20103630, 22028622, 22817896, 23955153, 24070898, 24130170, 24440909, 25241761, 25911380, 30561431 |
GO:0005576 |
Component |
Extracellular region |
NAS |
12189246 |
GO:0005576 |
Component |
Extracellular region |
TAS |
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GO:0005615 |
Component |
Extracellular space |
IDA |
13130484 |
GO:0005739 |
Component |
Mitochondrion |
IBA |
21873635 |
GO:0005886 |
Component |
Plasma membrane |
TAS |
|
GO:0005887 |
Component |
Integral component of plasma membrane |
TAS |
1698610 |
GO:0006693 |
Process |
Prostaglandin metabolic process |
IEA |
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GO:0006954 |
Process |
Inflammatory response |
IBA |
21873635 |
GO:0006954 |
Process |
Inflammatory response |
ISS |
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GO:0007249 |
Process |
I-kappaB kinase/NF-kappaB signaling |
TAS |
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GO:0008625 |
Process |
Extrinsic apoptotic signaling pathway via death domain receptors |
TAS |
8612133 |
GO:0008630 |
Process |
Intrinsic apoptotic signaling pathway in response to DNA damage |
IEA |
|
GO:0009986 |
Component |
Cell surface |
IEA |
|
GO:0010614 |
Process |
Negative regulation of cardiac muscle hypertrophy |
IEA |
|
GO:0010803 |
Process |
Regulation of tumor necrosis factor-mediated signaling pathway |
TAS |
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GO:0016020 |
Component |
Membrane |
TAS |
24966471 |
GO:0016032 |
Process |
Viral process |
IEA |
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GO:0019221 |
Process |
Cytokine-mediated signaling pathway |
ISS |
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GO:0019221 |
Process |
Cytokine-mediated signaling pathway |
TAS |
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GO:0033209 |
Process |
Tumor necrosis factor-mediated signaling pathway |
IMP |
25816133 |
GO:0033209 |
Process |
Tumor necrosis factor-mediated signaling pathway |
TAS |
24966471 |
GO:0042531 |
Process |
Positive regulation of tyrosine phosphorylation of STAT protein |
IMP |
21410936 |
GO:0042742 |
Process |
Defense response to bacterium |
IEA |
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GO:0043120 |
Function |
Tumor necrosis factor binding |
IBA |
21873635 |
GO:0043120 |
Function |
Tumor necrosis factor binding |
IPI |
9435233 |
GO:0043123 |
Process |
Positive regulation of I-kappaB kinase/NF-kappaB signaling |
IEP |
12761501 |
GO:0043235 |
Component |
Receptor complex |
IBA |
21873635 |
GO:0043235 |
Component |
Receptor complex |
IDA |
23382219 |
GO:0045121 |
Component |
Membrane raft |
IBA |
21873635 |
GO:0045121 |
Component |
Membrane raft |
IDA |
17010968 |
GO:0045944 |
Process |
Positive regulation of transcription by RNA polymerase II |
IMP |
21410936 |
GO:0045944 |
Process |
Positive regulation of transcription by RNA polymerase II |
ISS |
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GO:0050728 |
Process |
Negative regulation of inflammatory response |
IMP |
13130484 |
GO:0050729 |
Process |
Positive regulation of inflammatory response |
ISS |
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GO:0071260 |
Process |
Cellular response to mechanical stimulus |
IEP |
19593445 |
GO:0071550 |
Process |
Death-inducing signaling complex assembly |
TAS |
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GO:0072659 |
Process |
Protein localization to plasma membrane |
IMP |
25816133 |
GO:1902339 |
Process |
Positive regulation of apoptotic process involved in morphogenesis |
ISS |
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GO:1903140 |
Process |
Regulation of establishment of endothelial barrier |
IMP |
25816133 |
GO:2000304 |
Process |
Positive regulation of ceramide biosynthetic process |
TAS |
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
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UniProt ID |
P19438 |
Protein name |
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) (CD antigen CD120a) [Cleaved into: Tumor necrosis factor receptor superfamily member 1A, |
Protein 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 whic |
PDB |
1EXT
,
1FT4
,
1ICH
,
1NCF
,
1TNR
,
7K7A
,
7KP7
,
7KP8
,
7KPB
,
8P6Q
|
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF00020 |
TNFR_c6 |
44 → 81 |
TNFR/NGFR cysteine-rich region |
Domain |
PF00020 |
TNFR_c6 |
84 → 125 |
TNFR/NGFR cysteine-rich region |
Domain |
PF00020 |
TNFR_c6 |
127 → 166 |
TNFR/NGFR cysteine-rich region |
Domain |
PF00531 |
Death |
356 → 441 |
Death domain |
Domain |
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Sequence |
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Sequence length |
455 |
Interactions |
View interactions |
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