Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
7132
Gene name Gene Name - the full gene name approved by the HGNC.
TNF receptor superfamily member 1A
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TNFRSF1A
Synonyms (NCBI Gene) Gene synonyms aliases
CD120a, FPF, TBP1, TNF-R, TNF-R-I, TNF-R55, TNFAR, TNFR1, TNFR55, TNFR60, p55, p55-R, p60
Disease Acronyms (UniProt) Disease acronyms from UniProt database
FPF
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12p13.31
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP 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
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT051697 hsa-let-7e-5p CLASH 23622248
MIRT1443001 hsa-miR-1197 CLIP-seq
MIRT1443002 hsa-miR-1266 CLIP-seq
MIRT1443003 hsa-miR-194 CLIP-seq
MIRT1443004 hsa-miR-1973 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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
GO:0003177 Process Pulmonary valve development ISS
GO:0003332 Process Negative regulation of extracellular matrix constituent secretion ISS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
191190 11916 ENSG00000067182
Protein
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
Sequence
MGLSTVPDLLLPLVLLELLVGIYPSGVIGLVPHLGDREKRDSVCPQGKYIHPQNNSICCT
KCHKGTYLYNDCPGPGQDTDC
RECESGSFTASENHLRHCLSCSKCRKEMGQVEISSCTVD
RDTVC
GCRKNQYRHYWSENLFQCFNCSLCLNGTVHLSCQEKQNTVCTCHAGFFLRENECV
SCSNCKKSLECTKLCLPQIENVKGTEDSGTTVLLPLVIFFGLCLLSLLFIGLMYRYQRWK
SKLYSIVCGKSTPEKEGELEGTTTKPLAPNPSFSPTPGFTPTLGFSPVPSSTFTSSSTYT
PGDCPNFAAPRREVAPPYQGADPILATALASDPIPNPLQKWEDSAHKPQSLDTDDPATLY
AVVENVPPLRWKEFVRRLGLSDHEIDRLELQNGRCLREAQYSMLATWRRRTPRREATLEL
LGRVLRDMDLLGCLEDIEEAL
CGPAALPPAPSLLR
Sequence length 455
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Unknown
Disease term Disease name Evidence References Source
Alopecia Areata Alopecia Areata GWAS
Multiple Sclerosis Multiple Sclerosis GWAS
Biliary Cholangitis Biliary Cholangitis GWAS
Ankylosing Spondylitis Ankylosing Spondylitis GWAS
Associations from Text Mining
Disease Name Relationship Type References
AA amyloidosis Associate 11318938, 16308343, 23461592, 23965844, 36752501, 37470237
Abdominal Pain Associate 11953985, 21978701, 23965844
Abnormalities Drug Induced Associate 10540181
Abortion Habitual Stimulate 36495656
Acquired Immunodeficiency Syndrome Associate 11861282, 9326234
Acute Kidney Injury Associate 34975885
Adenocarcinoma Associate 29985074
Adenocarcinoma of Lung Associate 26313705
Adenoma Associate 23082052
Adenoma Islet Cell Associate 26748784