TNFRSF1A (TNF receptor superfamily member 1A)

Gene

• Entrez ID: 7132
• Gene name: TNF receptor superfamily member 1A
• Gene symbol: TNFRSF1A
• Synonyms: CD120a, FPF, TBP1, TNF-R, TNF-R-I, TNF-R55, TNFAR, TNFR1, TNFR55, TNFR60, p55, p55-R, p60
• Chromosome: 12
• Chromosome location: 12p13.31
• Summary: 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. Binding of membrane-bound tumor necrosis factor alpha to the membrane-bound receptor induces receptor trimerization and activation, which plays a role in cell survival, apoptosis, and inflammation. Proteolytic processing of the encoded receptor results in release of the soluble form of the receptor, which can interact with free tumor necrosis factor alpha to inhibit inflammation. Mutations in this gene underlie tumor necrosis factor receptor-associated periodic syndrome (TRAPS), characterized by fever, abdominal pain and other features. Mutations in this gene may also be associated with multiple sclerosis in human patients. [provided by RefSeq, Sep 2016]

SNPs

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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT051697	hsa-let-7e-5p	CLASH	23622248
MIRT734008	hsa-miR-34a-5p	PCR array	28097098

Gene ontology (GO)

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
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
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
GO:0006954	Process	Inflammatory response	IBA	21873635
GO:0006954	Process	Inflammatory response	ISS
GO:0007249	Process	I-kappaB kinase/NF-kappaB signaling	TAS
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
GO:0016020	Component	Membrane	TAS	24966471
GO:0016032	Process	Viral process	IEA
GO:0019221	Process	Cytokine-mediated signaling pathway	ISS
GO:0019221	Process	Cytokine-mediated signaling pathway	TAS
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
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
GO:0050728	Process	Negative regulation of inflammatory response	IMP	13130484
GO:0050729	Process	Positive regulation of inflammatory response	ISS
GO:0071260	Process	Cellular response to mechanical stimulus	IEP	19593445
GO:0071550	Process	Death-inducing signaling complex assembly	TAS
GO:0072659	Process	Protein localization to plasma membrane	IMP	25816133
GO:1902339	Process	Positive regulation of apoptotic process involved in morphogenesis	ISS
GO:1903140	Process	Regulation of establishment of endothelial barrier	IMP	25816133
GO:2000304	Process	Positive regulation of ceramide biosynthetic process	TAS

Other IDs

• MIM: 191190
• HGNC: 11916
• e!Ensembl: 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, membrane form; Tumor necrosis factor-binding protein 1 (TBPI)]
• 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 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.
• PDB: 1EXT, 1FT4, 1ICH, 1NCF, 1TNR, 7K7A, 7KP7, 7KP8, 7KPB
• 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
  KCHKGTYLYNDCPGPGQDTDCRECESGSFTASENHLRHCLSCSKCRKEMGQVEISSCTVD
  RDTVCGCRKNQYRHYWSENLFQCFNCSLCLNGTVHLSCQEKQNTVCTCHAGFFLRENECV
  SCSNCKKSLECTKLCLPQIENVKGTEDSGTTVLLPLVIFFGLCLLSLLFIGLMYRYQRWK
  SKLYSIVCGKSTPEKEGELEGTTTKPLAPNPSFSPTPGFTPTLGFSPVPSSTFTSSSTYT
  PGDCPNFAAPRREVAPPYQGADPILATALASDPIPNPLQKWEDSAHKPQSLDTDDPATLY
  AVVENVPPLRWKEFVRRLGLSDHEIDRLELQNGRCLREAQYSMLATWRRRTPRREATLEL
  LGRVLRDMDLLGCLEDIEEALCGPAALPPAPSLLR

• Sequence length: 455