Endometriosis Knowledgebase

Search Result

Gene id

7132

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

TNFRSF1A Gene UCSC Ensembl

Aliases

CD120a, FPF, TBP1, TNF-R, TNF-R-I, TNF-R55, TNFAR, TNFR1, TNFR55, TNFR60, p55, p55-R, p60

Gene name

TNF receptor superfamily member 1A

Alternate names

tumor necrosis factor receptor superfamily member 1A, TNF-R1, TNF-RI, TNFR-I, tumor necrosis factor binding protein 1, tumor necrosis factor receptor 1A isoform beta, tumor necrosis factor receptor type 1, tumor necrosis factor-alpha receptor,

Gene location

12p13.31 (6342116: 6328756) Exons: 10 NC_000012.12

Gene summary(Entrez)

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]

OMIM

191190

Protein Summary

Protein general information

P19438

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,

Length: 455 Mass: 50,495

Sequence

MGLSTVPDLLLPLVLLELLVGIYPSGVIGLVPHLGDREKRDSVCPQGKYIHPQNNSICCTKCHKGTYLYNDCPGP
GQDTDCRECESGSFTASENHLRHCLSCSKCRKEMGQVEISSCTVDRDTVCGCRKNQYRHYWSENLFQCFNCSLCL
NGTVHLSCQEKQNTVCTCHAGFFLRENECVSCSNCKKSLECTKLCLPQIENVKGTEDSGTTVLLPLVIFFGLCLL
SLLFIGLMYRYQRWKSKLYSIVCGKSTPEKEGELEGTTTKPLAPNPSFSPTPGFTPTLGFSPVPSSTFTSSSTYT
PGDCPNFAAPRREVAPPYQGADPILATALASDPIPNPLQKWEDSAHKPQSLDTDDPATLYAVVENVPPLRWKEFV
RRLGLSDHEIDRLELQNGRCLREAQYSMLATWRRRTPRREATLELLGRVLRDMDLLGCLEDIEEALCGPAALPPA
PSLLR

Structural information

Protein Domains	Death. (356-441)
Interpro:	IPR011029 IPR000488 IPR001368 IPR020419 IPR033994 IPR033993
Prosite:	PS50017 PS00652 PS50050
Pfam:	PF00531 PF00020
CDD:	cd08313 cd10576
PDB:	1EXT 1FT4 1ICH 1NCF 1TNR
PDBsum:	1EXT 1FT4 1ICH 1NCF 1TNR
DIP:	407
MINT:	135026
STRING:	ENSP00000162749;

Other Databases

GeneCards: TNFRSF1A; Malacards: TNFRSF1A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000139	Golgi membrane	IDA	cellular_component
GO:0005031	tumor necrosis factor-act ivated receptor activity	TAS	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005576	extracellular region	NAS	cellular_component
GO:0005615	extracellular space	IDA	cellular_component
GO:0005739	mitochondrion	IBA	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005887	integral component of pla sma membrane	TAS	cellular_component
GO:0006693	prostaglandin metabolic p rocess	IEA	biological_process
GO:0006954	inflammatory response	ISS	biological_process
GO:0006955	immune response	IBA	biological_process
GO:0007249	I-kappaB kinase/NF-kappaB signaling	TAS	biological_process
GO:0008625	extrinsic apoptotic signa ling pathway via death do main receptors	TAS	biological_process
GO:0008630	intrinsic apoptotic signa ling pathway in response to DNA damage	IEA	biological_process
GO:0009986	cell surface	IEA	cellular_component
GO:0010803	regulation of tumor necro sis factor-mediated signa ling pathway	TAS	biological_process
GO:0016032	viral process	IEA	biological_process
GO:0019221	cytokine-mediated signali ng pathway	ISS	biological_process
GO:0032496	response to lipopolysacch aride	IBA	biological_process
GO:0033209	tumor necrosis factor-med iated signaling pathway	IMP	biological_process
GO:0033209	tumor necrosis factor-med iated signaling pathway	TAS	biological_process
GO:0033209	tumor necrosis factor-med iated signaling pathway	TAS	biological_process
GO:0042127	regulation of cell prolif eration	IBA	biological_process
GO:0042511	positive regulation of ty rosine phosphorylation of Stat1 protein	IMP	biological_process
GO:0042742	defense response to bacte rium	IEA	biological_process
GO:0042981	regulation of apoptotic p rocess	IBA	biological_process
GO:0043120	tumor necrosis factor bin ding	IBA	molecular_function
GO:0043123	positive regulation of I- kappaB kinase/NF-kappaB s ignaling	IEP	biological_process
GO:0043235	receptor complex	IDA	cellular_component
GO:0045121	membrane raft	IDA	cellular_component
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	ISS	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IMP	biological_process
GO:0050728	negative regulation of in flammatory response	IMP	biological_process
GO:0050729	positive regulation of in flammatory response	ISS	biological_process
GO:0071260	cellular response to mech anical stimulus	IEP	biological_process
GO:0071550	death-inducing signaling complex assembly	TAS	biological_process
GO:0090002	establishment of protein localization to plasma me mbrane	IMP	biological_process
GO:1903140	regulation of establishme nt of endothelial barrier	IMP	biological_process
GO:2000304	positive regulation of ce ramide biosynthetic proce ss	TAS	biological_process
GO:0000139	Golgi membrane	IEA	cellular_component
GO:0000139	Golgi membrane	IDA	cellular_component
GO:0005031	tumor necrosis factor-act ivated receptor activity	IEA	molecular_function
GO:0005031	tumor necrosis factor-act ivated receptor activity	IEA	molecular_function
GO:0005031	tumor necrosis factor-act ivated receptor activity	TAS	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005576	extracellular region	IEA	cellular_component
GO:0005576	extracellular region	IEA	cellular_component
GO:0005576	extracellular region	NAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005615	extracellular space	IDA	cellular_component
GO:0005739	mitochondrion	IBA	cellular_component
GO:0005794	Golgi apparatus	IEA	cellular_component
GO:0005886	plasma membrane	IEA	cellular_component
GO:0005886	plasma membrane	IEA	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005887	integral component of pla sma membrane	TAS	cellular_component
GO:0006693	prostaglandin metabolic p rocess	IEA	biological_process
GO:0006915	apoptotic process	IEA	biological_process
GO:0006952	defense response	IEA	biological_process
GO:0006954	inflammatory response	IEA	biological_process
GO:0006954	inflammatory response	IEA	biological_process
GO:0006954	inflammatory response	ISS	biological_process
GO:0006955	immune response	IBA	biological_process
GO:0007165	signal transduction	IEA	biological_process
GO:0007166	cell surface receptor sig naling pathway	IEA	biological_process
GO:0007249	I-kappaB kinase/NF-kappaB signaling	TAS	biological_process
GO:0008625	extrinsic apoptotic signa ling pathway via death do main receptors	TAS	biological_process
GO:0008630	intrinsic apoptotic signa ling pathway in response to DNA damage	IEA	biological_process
GO:0009986	cell surface	IEA	cellular_component
GO:0010803	regulation of tumor necro sis factor-mediated signa ling pathway	TAS	biological_process
GO:0016020	membrane	IEA	cellular_component
GO:0016021	integral component of mem brane	IEA	cellular_component
GO:0016032	viral process	IEA	biological_process
GO:0019221	cytokine-mediated signali ng pathway	IEA	biological_process
GO:0019221	cytokine-mediated signali ng pathway	ISS	biological_process
GO:0032496	response to lipopolysacch aride	IBA	biological_process
GO:0033209	tumor necrosis factor-med iated signaling pathway	IEA	biological_process
GO:0033209	tumor necrosis factor-med iated signaling pathway	IMP	biological_process
GO:0033209	tumor necrosis factor-med iated signaling pathway	TAS	biological_process
GO:0033209	tumor necrosis factor-med iated signaling pathway	TAS	biological_process
GO:0042127	regulation of cell prolif eration	IBA	biological_process
GO:0042511	positive regulation of ty rosine phosphorylation of Stat1 protein	IMP	biological_process
GO:0042742	defense response to bacte rium	IEA	biological_process
GO:0042981	regulation of apoptotic p rocess	IBA	biological_process
GO:0043120	tumor necrosis factor bin ding	IBA	molecular_function
GO:0043123	positive regulation of I- kappaB kinase/NF-kappaB s ignaling	IEP	biological_process
GO:0043235	receptor complex	IDA	cellular_component
GO:0045121	membrane raft	IEA	cellular_component
GO:0045121	membrane raft	IDA	cellular_component
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IEA	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	ISS	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IMP	biological_process
GO:0050728	negative regulation of in flammatory response	IMP	biological_process
GO:0050729	positive regulation of in flammatory response	IEA	biological_process
GO:0050729	positive regulation of in flammatory response	ISS	biological_process
GO:0071260	cellular response to mech anical stimulus	IEP	biological_process
GO:0071550	death-inducing signaling complex assembly	TAS	biological_process
GO:0090002	establishment of protein localization to plasma me mbrane	IMP	biological_process
GO:1903140	regulation of establishme nt of endothelial barrier	IMP	biological_process
GO:2000304	positive regulation of ce ramide biosynthetic proce ss	TAS	biological_process
GO:0000139	Golgi membrane	IDA	cellular_component
GO:0005031	tumor necrosis factor-act ivated receptor activity	TAS	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005576	extracellular region	NAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005615	extracellular space	IDA	cellular_component
GO:0005739	mitochondrion	IBA	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005887	integral component of pla sma membrane	TAS	cellular_component
GO:0006954	inflammatory response	ISS	biological_process
GO:0006955	immune response	IBA	biological_process
GO:0007249	I-kappaB kinase/NF-kappaB signaling	TAS	biological_process
GO:0008625	extrinsic apoptotic signa ling pathway via death do main receptors	TAS	biological_process
GO:0010803	regulation of tumor necro sis factor-mediated signa ling pathway	TAS	biological_process
GO:0019221	cytokine-mediated signali ng pathway	ISS	biological_process
GO:0032496	response to lipopolysacch aride	IBA	biological_process
GO:0033209	tumor necrosis factor-med iated signaling pathway	IMP	biological_process
GO:0033209	tumor necrosis factor-med iated signaling pathway	TAS	biological_process
GO:0033209	tumor necrosis factor-med iated signaling pathway	TAS	biological_process
GO:0042127	regulation of cell prolif eration	IBA	biological_process
GO:0042511	positive regulation of ty rosine phosphorylation of Stat1 protein	IMP	biological_process
GO:0042981	regulation of apoptotic p rocess	IBA	biological_process
GO:0043120	tumor necrosis factor bin ding	IBA	molecular_function
GO:0043123	positive regulation of I- kappaB kinase/NF-kappaB s ignaling	IEP	biological_process
GO:0043235	receptor complex	IDA	cellular_component
GO:0045121	membrane raft	IDA	cellular_component
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	ISS	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IMP	biological_process
GO:0050728	negative regulation of in flammatory response	IMP	biological_process
GO:0050729	positive regulation of in flammatory response	ISS	biological_process
GO:0071260	cellular response to mech anical stimulus	IEP	biological_process
GO:0071550	death-inducing signaling complex assembly	TAS	biological_process
GO:0090002	establishment of protein localization to plasma me mbrane	IMP	biological_process
GO:1903140	regulation of establishme nt of endothelial barrier	IMP	biological_process
GO:2000304	positive regulation of ce ramide biosynthetic proce ss	TAS	biological_process

KEGG pathways

hsa04060  Cytokine-cytokine receptor interaction
hsa05166  HTLV-I infection
hsa04010  MAPK signaling pathway
hsa05167  Kaposi's sarcoma-associated herpesvirus infection
hsa05152  Tuberculosis
hsa05168  Herpes simplex infection
hsa05418  Fluid shear stress and atherosclerosis
hsa05164  Influenza A
hsa05145  Toxoplasmosis
hsa04210  Apoptosis
hsa04668  TNF signaling pathway
hsa05142  Chagas disease
hsa04380  Osteoclast differentiation
hsa04932  Non-alcoholic fatty liver disease
hsa05160  Hepatitis C
hsa04217  Necroptosis
hsa04064  NF-kappa B signaling pathway
hsa04150  mTOR signaling pathway
hsa05010  Alzheimer's disease
hsa04931  Insulin resistance
hsa04071  Sphingolipid signaling pathway
hsa04920  Adipocytokine signaling pathway
hsa04215  Apoptosis
hsa05014  Amyotrophic lateral sclerosis

Diseases

Associated diseases	References
Amyloidosis	PMID: 12105243
Anemia	PMID: 16142859
Arthritis	PMID: 11212177
Biliary liver cirrhosis	PMID: 21399635
Cancer	PMID: 15146559
Chronic obstructive pulmonary disease (COPD)	PMID: 12661999
Cirrhosis	PMID: 11196686
Crohn's disease	PMID: 15586174
Cystic fibrosis	PMID: 16463024
Defective endometrial receptivity	PMID: 25935494
Endometriosis	PMID: 19238748
Impaired spermatogenesis	PMID: 19527232
Juvenile arthritis	PMID: 11961180
Endometriosis	INFBASE19238748
Male infertility	PMID: 8632606
Multiple sclerosis	KEGG: H01490
Myelopathy	PMID: 11163081
Myocardial infarction	PMID: 14694358
Obesity	PMID: 17200772
Osteoarthritis	PMID: 16282562
Parkinson's disease	PMID: 11072751
Periodic syndrome	KEGG: H00912
Polycystic ovary syndrome (PCOS)	PMID: 24423322
Pregnancy loss	PMID: 17686637
Preterm delivery	PMID: 16731080
Psoriasis	PMID: 17530646
Rheumatic diseases	PMID: 17763205
Rheumatoid arthritis	PMID: 14872483
Systemic lupus erythematosus	PMID: 12126589

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Associated_genes	Abstract
19238748	Endometrio sis	TNF-alpha C((-857)T, C(-863)A and T(-1031)C), TNFR1 (A(36)G. TNFR2 T(676)G, A(1663)G, T(1668)G and C(1690)T)	Korean	206 (105 women with endometrio sis, 101 women without endomet riosis)	TNT-alpha TNFR2 TNFR	Show abstract
11006322	Endometrio sis			93 (53 women wi th endometriosi s, 40 without e ndometriosis)	TNFR I TNFR II	Show abstract
18510047	Endometrio sis			36 (22 patients with endometri osis (stage I a nd II rAFS), 14 patients with benign, non-inf lammatory ovari an tumors)	TNFR1 TNFR2	Show abstract
14748845	Endometrio sis			148 (77 cases, 71 controls)	TNFR-1 angiogenin	Show abstract