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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

TNFRSF1A Gene

protein-coding GIFtS: 70
GCID: GC12M006412

tumor necrosis factor receptor superfamily, member 1A

(Previous symbol: TNFR1)

Explore 210 diseases affiliated with
TNFRSF1A via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Tumor Necrosis Factor Receptor Superfamily, Member 1A¹ ²		MS5²
TNFAR¹ ² ³ ⁵		TBP1²
TNFR1¹ ² ³ ⁵		TNFR1-D2¹
CD120a¹ ²		TNFR55²
TNF-R¹ ²		P55-R¹
TNF-R-I¹ ²		Tumor Necrosis Factor Binding Protein 1²
TNF-R55¹ ²		Tumor Necrosis Factor Receptor 1A Isoform Beta²
TNFR60¹ ²		Tumor Necrosis Factor Receptor Superfamily Member 1A²
TNF-R1² ³		Tumor Necrosis Factor Receptor Type 1²
TNF-RI² ³		Tumor Necrosis Factor-Alpha Receptor²
TNFR-I² ³		CD120a Antigen³
P55¹		Tumor Necrosis Factor Receptor 1³
P60¹		Tumor Necrosis Factor Receptor Type I³
FPF² ⁵

External Ids:	HGNC: 11916¹	Entrez Gene: 7132²	Ensembl: ENSG00000067182⁷	OMIM: 191190⁵	UniProtKB: P19438³

Export aliases for TNFRSF1A gene to outside databases

Previous GC identifers: GC12M006292 GC12M006308

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for TNFRSF1A:

The protein encoded by this gene is a member of the TNF-receptor superfamily. This protein is one of the major

receptors for the tumor necrosis factor-alpha. This receptor can activate NF-kappaB, mediate apoptosis, and function

as a regulator of inflammation. Antiapoptotic protein BCL2-associated athanogene 4 (BAG4/SODD) and adaptor proteins

TRADD and TRAF2 have been shown to interact with this receptor, and thus play regulatory roles in the signal

transduction mediated by the receptor. Germline mutations of the extracellular domains of this receptor were found to

be associated with the autosomal dominant periodic fever syndrome. The impaired receptor clearance is thought to be a

mechanism of the disease. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: TNR1A_HUMAN, P19438

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

Gene Wiki entry for TNFRSF1A

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000012.11 NC_018923.1 NT_009759.16

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the TNFRSF1A gene promoter:
CREB STAT1 AP-1 deltaCREB STAT1beta STAT3 STAT5A STAT1alpha
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 4): TNFRSF1A promoter sequence

Search SABiosciences Chromatin IP Primers for TNFRSF1A

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TNFRSF1A

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 12p13.2 Ensembl cytogenetic band: 12p13.31 HGNC cytogenetic band: 12p13.2

TNFRSF1A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TNFRSF1A gene location

GeneLoc information about chromosome 12 GeneLoc Exon Structure

GeneLoc location for GC12M006412: view genomic region (about GC identifiers)

Start:	6,437,923 bp from pter	End:	6,451,283 bp from pter
Size:	13,361 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: TNR1A_HUMAN, P19438 (See protein sequence)

Recommended Name: Tumor necrosis factor receptor superfamily member 1A precursor

Size: 455 amino acids; 50495 Da

Subunit: Binding of TNF to the extracellular domain leads to homotrimerization. The aggregated death domains provide a

novel molecular interface that interacts specifically with the death domain of TRADD. Various TRADD-interacting

proteins such as TRAFS, RIPK1 and possibly FADD, are recruited to the complex by their association with TRADD. This

complex activates at least two distinct signaling cascades, apoptosis and NF-kappa-B signaling. Interacts with BAG4,

BRE, FEM1B, GRB2, SQSTM1 and TRPC4AP. Interacts with HCV core protein. Interacts with human cytomegalovirus/HHV-5

protein UL138

Subcellular location: Cell membrane; Single-pass type I membrane protein. Golgi apparatus membrane; Single-pass type I

membrane protein. Secreted. Note=A secreted form is produced through proteolytic processing

Subcellular location: Isoform 4: Secreted. Note=Lacks a Golgi-retention motif, is not membrane bound and therefore is

secreted

5 PDB 3D structures from and Proteopedia for TNFRSF1A:

1EXT (3D)

1FT4 (3D)

1ICH (3D)

1NCF (3D)

1TNR (3D)

Secondary accessions: A8K4X3 B2RDE4 B3KPQ1 B4DQB7 B4E309 D3DUR1 Q9UCA4

Alternative splicing: 4 isoforms: P19438-1 P19438-2 P19438-4 P19438-3 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for TNFRSF1A: NX_P19438

Post-translational modifications:

The soluble form is produced from the membrane form by proteolytic processing¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P19438

TNFRSF1A Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_001056.1

ENSEMBL proteins:

ENSP00000441803 ENSP00000162749 ENSP00000442405 ENSP00000438343 ENSP00000442059

ENSP00000380389 ENSP00000439981 ENSP00000413224 ENSP00000442919

Reactome Protein details: P19438
Human Recombinant Protein Products:

	EMD Millipore Purified and/or Recombinant TNFRSF1A Protein
	R&D Systems Recombinant & Natural Proteins for TNFRSF1A (TNF RI/TNFRSF1A)
	Enzo Life Sciences proteins for TNFRSF1A
	Browse OriGene full length recombinant human proteins expressed in human HEK293 cells OriGene Protein Over-expression Lysate: TNFRSF1A OriGene Custom Protein Services for TNFRSF1A
	GenScript Custom Purified and Recombinant Proteins Services for TNFRSF1A
	Novus Biologicals TNFRSF1A Proteins Novus Biologicals TNFRSF1A Lysate
	Sino Biological Recombinant Protein for TNFRSF1A
	ProSpec Recombinant Protein for TNFRSF1A
	Uscn Proteins for TNFRSF1A

Gene Ontology (GO): 5/10 cellular component terms (GO ID links to tree view) (see all 10): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000139	Golgi membrane	IDA	--
GO:0005576	extracellular region	NAS	12189246
GO:0005615	extracellular space	IDA	13130484
GO:0005634	nucleus	IEA	--
GO:0005886	plasma membrane	TAS	--

TNFRSF1A for ontologies About GeneDecksing

TNFRSF1A Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of TNFRSF1A
	R&D Systems Antibodies for TNFRSF1A (TNF RI/TNFRSF1A)
	Cell Signaling Technology (CST) Antibodies for TNFRSF1A (TNF-R1)
	OriGene Antibodies (see all 3): TNFRSF1A OriGene Custom Antibody Services for TNFRSF1A
	GenScript Custom Superior Antibodies Services for TNFRSF1A
	Novus Biologicals TNFRSF1A Antibodies
	Abcam antibodies for TNFRSF1A
	Uscn Antibodies for TNFRSF1A
	ThermoFisher Antibodies for TNFRSF1A

Assay Products for TNFRSF1A:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	R&D Systems ELISAs for TNFRSF1A (TNF RI/TNFRSF1A) (see all)
	GenScript Custom Assay Services for TNFRSF1A
	Enzo Life Sciences assays for TNFRSF1A
	Uscn ELISAs and CLIAs for TNFRSF1A

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

TNFRSF1A for domains About GeneDecksing

4 InterPro domains/families:

IPR001368 TNFR/NGFR_Cys_rich_reg

IPR020419 TNFR_1A

IPR011029 DEATH-like_dom

IPR000488 Death_domain

Graphical View of Domain Structure for InterPro Entry P19438

ProtoNet protein and cluster: P19438

2 Blocks protein families:

IPB000488 Death domain

IPB001368 TNFR/CD27/30/40/95 cysteine-rich region

UniProtKB/Swiss-Prot: TNR1A_HUMAN, P19438

Domain: The domain that induces A-SMASE is probably identical to the death domain. The N-SMASE activation domain (NSD)

is both necessary and sufficient for activation of N-SMASE

Domain: Both the cytoplasmic membrane-proximal region and the C-terminal region containing the death domain are

involved in the interaction with TRPC4AP (By similarity)

Similarity: Contains 1 death domain

Similarity: Contains 4 TNFR-Cys repeats

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: TNR1A_HUMAN, P19438

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

Genatlas biochemistry entry for TNFRSF1A:

tumor necrosis factor receptor superfamily,member 1A,involved at least in two independent pathways,acidic

sphingomyelinase controlling expression of multiple TNF-responsive genes,including the apoptotic pathway,neutral

sphingomyelinase critical for the inflammatory and proliferative responses induced by TNF

miRNA Products:		OriGene 3'-UTR Clone: TNFRSF1A Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TNFRSF1A
		6 QIAGEN miScript miRNA Assays for microRNAs that regulate TNFRSF1A:
		hsa-miR-4251 hsa-miR-539 hsa-miR-29c hsa-miR-29a hsa-miR-4280 hsa-miR-29b
		SwitchGear 3'UTR luciferase reporter plasmid: TNFRSF1A 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for TNFRSF1A (see all 7) OriGene shRNA RFP: TNFRSF1A OriGene siRNA: TNFRSF1A
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TNFRSF1A

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for TNFRSF1A

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for TNFRSF1A (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for TNFRSF1A (see all 2) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: TNFRSF1A (NM_001065)
		Sino Biological Human cDNA Clone for TNFRSF1A
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for TNFRSF1A
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TNFRSF1A

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for TNFRSF1A
		Search LifeMap BioReagents cell lines for TNFRSF1A

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TNFRSF1A

Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0002020	protease binding	IEA	--
GO:0005031	tumor necrosis factor-activated receptor activity	TAS	2158863
GO:0005515	protein binding	IPI	--
GO:0032403	protein complex binding	IEA	--
GO:0043120	tumor necrosis factor binding	IEA	--

TNFRSF1A for ontologies About GeneDecksing

4 GenomeRNAi human phenotypes for TNFRSF1A:

Cell cycle / mitosis defect

Decreased viability

Increased TP53 protein express

Lamellipodia and high actin ra

Animal Models:
Mouse knock-outs for TNFRSF1A: Tnfrsf1a^tm1Blt Tnfrsf1a^tm1Imx Tnfrsf1a^tm2Gkl Tnfrsf1a^tm1Gkl Tnfrsf1a^tm1Mak
15/24 MGI mutant phenotypes (inferred from 7 alleles) (MGI details for Tnfrsf1a) (see all 24):

adipose tissue	behavior/neurological	cardiovascular system	cellular	digestive/alimentary
embryogenesis	endocrine/exocrine gland	growth/size	hematopoietic system	homeostasis/metabolism
immune system	integument	limbs/digits/tail	liver/biliary system	mortality/aging

TNFRSF1A for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/50 super-pathways (see all 50) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

TWEAK Pathway

TNFR1 Pathway	0.53	TNF Signaling	0.40
HIV-1 Nef- Negative effector of Fas and TNF-alpha	0.42	Apoptotic Pathways Triggered By HIV1	0.37
Apoptosis and survival_TNFR1 signaling pathway	0.40	Apoptosis through Death Receptors	0.32
Apoptosis and survival TNFR1 signaling pathway	0.40	Apoptosis Modulation by HSP70	0.30

Apoptosis and survival_Anti-apoptotic TNFs/NF-kB/Bcl-2 pathway

	Apoptosis and survival Anti-apoptotic TNFs/NF-kB/Bcl-2 pathway	1.00			Apoptosis and survival_Anti-apoptotic TNFs/NF-kB/IAP pathway	0.46
	Apoptosis and survival_Anti-apoptotic TNFs/NF-kB/Bcl-2 pathway	1.00			Apoptosis and survival Anti-apoptotic TNFs/NF-kB/IAP pathway	0.46

TGF-Beta Pathway

	TGF-Beta Pathway	1.00			JAK-STAT Pathway	0.57
	MAPK Family Pathway	0.60			JNK Pathway	0.50

PEDF Induced Signaling

	STAT3 Pathway	0.47			Glucocorticoid Receptor Signaling	0.27
	PGC1Alpha Pathway	0.33			Cytokine-cytokine receptor interaction	0.26

Apoptosis and survival_Caspase cascade

	Apoptosis and survival_Caspase cascade	1.00			Caspase cascade in apoptosis	0.42
	Apoptosis and survival Caspase cascade	1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

5/9 EMD Millipore Pathways for TNFRSF1A (see all 9)

	Transcription NF-kB signaling pathway
	Apoptosis and survival TNFR1 signaling pathway
	Apoptosis and survival Caspase cascade
	Immune response IL-9 signaling pathway
	Apoptosis and survival Anti-apoptotic TNFs/NF-kB/Bcl-2 pathway

4 R&D Systems Pathways for TNFRSF1A

	TNF Superfamily - Human Ligand-Receptor Interactions & their Associated Functions
	Apoptosis Signaling Pathways
	IL-15 Signaling and its Primary Biological Effects in Different Immune Cell Types
	IL-2 Signaling and its Primary Biological Effects in Different Immune Cell Types

5/40 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for TNFRSF1A (see all 40)

	Caspase Cascade
	THC Differentiation Pathway
	14-3-3 Induced Apoptosis
	Molecular Mechanisms of Cancer
	Antioxidant Action of Vitamin-C

2 Cell Signaling Technology (CST) Pathways for TNFRSF1A

	Apoptosis and Autophagy
	NF-kappaB Signaling

5/9 GeneGo (Thomson Reuters) Pathways for TNFRSF1A (see all 9)

	Apoptosis and survival Anti-apoptotic TNFs/NF-kB/IAP pathway
	Apoptosis and survival Caspase cascade
	Immune response IL-9 signaling pathway
	Apoptosis and survival Anti-apoptotic TNFs/NF-kB/Bcl-2 pathway
	Apoptosis and survival TNFR1 signaling pathway

5/14 BioSystems Pathways for TNFRSF1A (see all 14)

	Apoptosis Modulation and Signaling
	Apoptosis
	Alzheimers Disease
	TNF-alpha/NF-kB Signaling Pathway
	Integrated Pancreatic Cancer Pathway

4 Reactome Pathways for TNFRSF1A

	Death Receptor Signalling
	TNF signaling
	Extrinsic Pathway for Apoptosis
	Apoptosis

5/12 Kegg Pathways (Kegg details for TNFRSF1A) (see all 12):

	MAPK signaling pathway
	Cytokine-cytokine receptor interaction
	Apoptosis
	Osteoclast differentiation
	Adipocytokine signaling pathway

TNFRSF1A for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for TNFRSF1A

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/244 Interacting proteins for TNFRSF1A (P19438^{1, 2, 3} ENSP00000162749⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 244)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
HIST1H4A	P62805²^,³	MINT-49356 I2D: score=2
HIST1H4B	P62805²^,³	MINT-49356 I2D: score=2
HIST1H4C	P62805²^,³	MINT-49356 I2D: score=2
HIST1H4D	P62805²^,³	MINT-49356 I2D: score=2
HIST1H4E	P62805²^,³	MINT-49356 I2D: score=2

About this table

Gene Ontology (GO): 5/35 biological process terms (GO ID links to tree view) (see all 35): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001666	response to hypoxia	IEA	--
GO:0006693	prostaglandin metabolic process	IEA	--
GO:0006915	apoptotic process	TAS	--
GO:0006952	defense response	--	--
GO:0006954	inflammatory response	ISS	--

TNFRSF1A for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

TNFRSF1A for compounds About GeneDecksing

EMD Millipore small molecules for TNFRSF1A:
Small Molecule - inhibitor

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for TNFRSF1A

1 DrugBank Compound for TNFRSF1A About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
6-[3-(4-Morpholinyl)Propyl]-2-(3-Nitrophenyl)-5-Thioxo-5,6,-Dihydro-7h-Thienol[2',3':4,5]Pyrrolo[1,2-C]Imidazol-7-One	--	--	target	--	17139284 17016423 10592235

10/108 Novoseek chemical compound relationships for TNFRSF1A gene (see all 108) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
solamargine	68.7	7	8954074 (2), 18078328 (1), 11108802 (1)
etanercept	67.5	33	11458980 (2), 12452839 (2), 18408954 (2), 10949736 (1) (see all 25)
tab-1	62.9	2	17439942 (1), 17673602 (1)
tri (d)	60	4	16631736 (1), 15357952 (1)
bcma	56	7	9846698 (2), 10903733 (2), 16357320 (1), 14720511 (1)
infliximab	43.3	12	16265686 (2), 19180495 (2), 17618693 (1), 15372221 (1) (see all 7)
ceramide	42.1	12	15721320 (2), 9810003 (1), 15817701 (1), 9743381 (1) (see all 9)
endotoxin	36.9	23	9950912 (3), 9684796 (3), 9075062 (2), 10353534 (2) (see all 10)
cysteine	30.1	27	7567962 (3), 9921712 (2), 10964568 (1), 11175303 (1) (see all 20)
gp 130	27.9	7	10622477 (1), 9890661 (1), 10414448 (1), 18779056 (1) (see all 5)

Search CenterWatch for drugs/clinical trials and news about TNFRSF1A / TNR1A

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for TNFRSF1A gene:

NM_001065.3

Unigene Cluster for TNFRSF1A:

Tumor necrosis factor receptor superfamily, member 1A

Hs.279594 [show with all ESTs]

Unigene Representative Sequence: NM_001065

16 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000534885(uc010sez.2) ENST00000162749(uc001qnt.3 uc001qnu.3 uc010sey.2 uc009zek.3)

ENST00000536717 ENST00000543995 ENST00000540022 ENST00000543359 ENST00000537842

ENST00000535038 ENST00000539372 ENST00000366159(uc010sfa.2) ENST00000437813

ENST00000543048 ENST00000440083 ENST00000536194 ENST00000535958 ENST00000538363

miRNA Products:		OriGene 3'-UTR Clone: TNFRSF1A Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TNFRSF1A
		6 QIAGEN miScript miRNA Assays for microRNAs that regulate TNFRSF1A:
		hsa-miR-4251 hsa-miR-539 hsa-miR-29c hsa-miR-29a hsa-miR-4280 hsa-miR-29b
		SwitchGear 3'UTR luciferase reporter plasmid: TNFRSF1A 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for TNFRSF1A (see all 7) OriGene shRNA RFP: TNFRSF1A OriGene siRNA: TNFRSF1A
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TNFRSF1A

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for TNFRSF1A (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for TNFRSF1A (see all 2) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: TNFRSF1A (NM_001065)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for TNFRSF1A
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TNFRSF1A

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for TNFRSF1A Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat TNFRSF1A
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TNFRSF1A
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TNFRSF1A

Additional cDNA sequence:

AK056611.1 AK291088.1 AK308061.1 AK315509.1 AY182755.1 BC010140.2 EU927389.1 JN172914.1

M33294.1 M58286.1 M60275.1 M63121.1

24/33 DOTS entries (see all 33):

DT.100834768 DT.100834760 DT.100834763 DT.95320606 DT.100834766 DT.100834775 DT.100834769 DT.65286582

DT.100837461 DT.121189379 DT.100840631 DT.121189284 DT.121189378 DT.121189349 DT.91847911 DT.121189298

DT.121189408 DT.95137577 DT.121189292 DT.121189354 DT.121189228 DT.121189242 DT.121189380 DT.40208840

24/368 AceView cDNA sequences (see all 368):

R95967 AU125694 CF454049 BU632029 M63121 BI821169 BU732117 BG056664

BM782977 AU124156 AI688031 BM689243 CA422258 CD014136 BM756214 CB131061

CA419260 BX399373 BQ880824 BQ723672 AL577008 AU280523 CR596841 BM742388

GeneLoc Exon Structure

5/12 Alternative Splicing Database (ASD) splice patterns (SP) for TNFRSF1A (see all 12) About this scheme

ExUns:	1a	·	1b	·	1c	·	1d	·	1e	·	1f	^	2	^	3a	·	3b	^	4a	·	4b	·	4c	·	4d	^	5a	·	5b	^	6a	·	6b	^	7a	·	7b	·	7c	^	8	^	9	^	10a	·	10b	^	11a	·	11b	^
SP1:													-						-																				-				-		-
SP2:													-						-										-		-								-				-		-
SP3:													-				-		-		-		-																-				-		-
SP4:																																							-						-
SP5:																																							-				-		-		-

ExUns:	12	^	13	^	14
SP1:
SP2:
SP3:
SP4:
SP5:

ECgene alternative splicing isoforms for TNFRSF1A

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

TNFRSF1A expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TTACACTAAT

About this image

TNFRSF1A expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

3 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Brain

Blood Brain Barrier

Adult Endothelial Cells

Blood Brain Barrier, Endothelium

Brain

Blood Brain Barrier

Endothelial Cells

Blood Brain Barrier, Endothelium

Brain

Blood Brain Barrier

Postnatal Endothelial Cells

Blood Brain Barrier, Endothelium

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See TNFRSF1A Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for TNFRSF1A

SOURCE GeneReport for Unigene cluster: Hs.279594

SABiosciences Expression via Pathway-Focused PCR Arrays including TNFRSF1A (see all 14):

Multiple Sclerosis in human mouse rat

Toll-Like Receptor Signaling Pathway in human mouse rat

Apoptosis in human mouse rat

Inflammatory Response & Autoimmunity 384HT in human mouse rat

Diabetes in human mouse rat

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for TNFRSF1A gene from 4/10 species (see all 10) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Tnfrsf1a^{1 , 5}	tumor necrosis factor receptor superfamily, member more^{1, 5}	73.47(n)¹ 66.21(a)¹		6 (59.32 cM)⁵ 21937¹ NM_011609.4¹ NP_035739.2¹ 125349362⁵
chicken (Gallus gallus)	Aves	TNFRSF1A¹	tumor necrosis factor receptor superfamily, member more	50.24(n) 39.66(a)		418325 NM_001030779.1 NP_001025950.1
lizard (Anolis carolinensis)	Reptilia	TNFRSF1A⁶	--	29(a)	1 ↔ 1	GL343473.1(602793-616122)
zebrafish (Danio rerio)	Actinopterygii	tnfrsf1a¹	tumor necrosis factor receptor superfamily, member more	45.01(n) 29.62(a)		406471 NM_213190.1 NP_998355.1

ENSEMBL Gene Tree for TNFRSF1A (if available)
TreeFam Gene Tree for TNFRSF1A (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for TNFRSF1A gene

TNFRSF25²

TNFRSF1A for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 12 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs4149584^1,2	C,F,H,	pathogenic	6442643(-)	`GGACCA/C/GGGACA`	3	Q P R	mis¹ ese³		14		NS EA NA EU	6947
rs104895222^1,2	C	pathogenic	6442655(-)	`TTCTTA/GCACAG`	2	Y C	mis¹		0	--	--	--	--
rs104895221^1,2	C	pathogenic	6442656(-)	`CTTCTC/TGCACA`	2	R C	mis¹		0	--	--	--	--
rs104895228^1,2	C	pathogenic	6442930(-)	`GACACA/C/G/T GCCTC`	4	S R G C	mis¹		0	--	--	--	--
rs104895220^1,2	C	pathogenic	6442983(-)	`GGACTA/G/TCAGGG`	3	Y C F	mis¹		0	--	--	--	--
rs104895219^1,2	C	pathogenic	6442989(-)	`GGATAA/C/TGGACT`	3	K T M	mis¹		0	--	--	--	--
rs104895218^1,2	C	pathogenic	6443265(-)	`CAAGTA/GCCACA`	2	Y C	mis¹		0	--	--	--	--
rs104895225^1,2	C	pathogenic	6443266(-)	`CCAAGG/TGCCAC`	2	G C	mis¹		0	--	--	--	--
rs104895223^1,2	C	pathogenic	6443274(-)	`TTGCTA/C/G/T TACCA`	4	Y S C F	mis¹		1		NA	4552
rs104895217^1,2	C	pathogenic	6443275(-)	`TTTGCC/TGTACC`	2	R C	mis¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for TNFRSF1A (6437923 - 6451283 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for TNFRSF1A: --
Human Gene Mutation Database (HGMD): TNFRSF1A

Locus Specific Mutation Databases (LSDB): TNFRSF1A

SABiosciences Cancer Mutation PCR Assays

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

TNFRSF1A for disorders           About GeneDecksing

OMIM gene information: 191190
OMIM disorders: 142680
UniProtKB/Swiss-Prot: TNR1A_HUMAN, P19438

Defects in TNFRSF1A are the cause of familial hibernian fever (FHF) [MIM:142680]; also known as tumor necrosis

factor receptor-associated periodic syndrome (TRAPS). FHF is a hereditary periodic fever syndrome characterized by

recurrent fever, abdominal pain, localized tender skin lesions and myalgia. Reactive amyloidosis is the main

complication and occurs in 25% of cases

Genetic variation in TNFRSF1A is associated with susceptibility to multiple sclerosis 5 (MS5) [MIM:614810]. A

multifactorial, inflammatory, demyelinating disease of the central nervous system. Sclerotic lesions are characterized

by perivascular infiltration of monocytes and lymphocytes and appear as indurated areas in pathologic specimens

(sclerosis in plaques). The pathological mechanism is regarded as an autoimmune attack of the myelin sheat, mediated

by both cellular and humoral immunity. Clinical manifestations include visual loss, extra-ocular movement disorders,

paresthesias, loss of sensation, weakness, dysarthria, spasticity, ataxia and bladder dysfunction. Genetic and

environmental factors influence susceptibility to the disease. Note=An intronic mutation affecting alternative

splicing and skipping of exon 6 directs increased expression of isoform 4 a transcript encoding a C-terminally

truncated protein which is secreted and may function as a TNF antagonist

20/210 diseases for TNFRSF1A (see all 210): About MalaCards

periodic fever muckle-wells syndrome post-transplant lymphoproliferative disease hyper-igd syndrome

graft versus host disease spinal cord injury adult-onset still's disease relapsing-remitting multiple sclerosis

common variable immunodeficiency anaplastic large cell lymphoma familial mediterranean fever guillain-barre syndrome

hypersensitivity reaction type ii disease sympathetic ophthalmia complex regional pain syndrome deep vein thrombosis

amyotrophic lateral sclerosis (als) wells syndrome patent ductus arteriosus amyotrophic lateral sclerosis

7 diseases from the University of Copenhagen DISEASES database for TNFRSF1A:

Arthritis Familial Mediterranean fever Cancer Inflammatory bowel disease

Multiple sclerosis Lung disease Vascular disease

10/91 Novoseek disease relationships for TNFRSF1A gene (see all 91) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
tumor necrosis factor receptor-associated periodic syndrome	92.3	36	11817598 (2), 15492850 (2), 15570662 (2), 11318938 (1) (see all 26)
necrosis	92	1452	10561634 (6), 7573266 (5), 1648538 (5), 12406325 (4) (see all 99)
tumors	82.5	1294	10561634 (6), 7573266 (5), 14598359 (5), 1648538 (5) (see all 99)
hereditary periodic fever syndromes	71.6	1	15071491 (1)
relapsing fever	61	12	11953985 (3), 10902757 (2), 15071491 (1), 11175303 (1) (see all 6)
rheumatoid arthritis	59.8	41	9391689 (6), 9219699 (2), 7621589 (2), 9290265 (2) (see all 27)
inflammation	59.3	55	9391689 (2), 17852784 (2), 9865650 (2), 9330935 (1) (see all 44)
familial mediterranean fever	56.6	8	11318938 (1), 16019157 (1), 12209523 (1), 15502081 (1) (see all 6)
muckle-wells syndrome	53.4	1	16019157 (1)
autoimmune diseases	41.8	21	15280569 (1), 19386778 (1), 20173385 (1), 11007755 (1) (see all 15)

Genetic Association Database (GAD): TNFRSF1A
Human Genome Epidemiology (HuGE) Navigator: TNFRSF1A (132 documents)

Export disorders for TNFRSF1A gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for TNFRSF1A gene, integrated from 9 sources (see all 1377):
(articles sorted by number of sources associating them with TNFRSF1A)

Utopia: connect your pdf to the dynamic
world of online information

Molecular cloning and expression of a receptor for human tumor necrosis factor. (PubMed id 2158863)^{1, 2, 3, 9} Schall T.J....Raab H. (1990)
Heterogeneity among patients with tumor necrosis factor receptor- associated periodic syndrome phenotypes. (PubMed id 13130484)^{1, 2, 4, 9} Aganna E.... McDermott M.F. (2003)
A TNFR1 genotype with a protective role in familial rheumatoid arthritis. (PubMed id 14872483)^{1, 4, 9} Dieude P....Cornelis F. (2004)
A novel missense mutation (C30S) in the gene encoding tumor necrosis factor receptor 1 linked to autosomal-dominant recurrent fever with localized myositis in a French family. (PubMed id 10902757)^{1, 2, 9} Dode C.... Grateau G. (2000)
Association of polymorphisms of the tumour necrosis factor receptors I and II and rheumatoid arthritis. (PubMed id 12730509)^{1, 4, 9} Bayley J.P....Verweij C.L. (2003)
Structure of the human TNF receptor 1 (p60) gene (TNFR1) and localization to chromosome 12p13. (PubMed id 1315717)^{1, 2, 9} Fuchs P.... Ambros P.F. (1992)
Tumor necrosis factor receptor gene polymorphisms in Crohn's disease: association with clinical phenotypes. (PubMed id 15842589)^{1, 4, 9} Waschke K.A....Wild G.E. (2005)
Anemia in rheumatoid arthritis: association with polymorphism in the tumor necrosis factor receptor I and II genes. (PubMed id 16142859)^{1, 4, 9} Glossop J.R....Mattey D.L. (2005)
Tumor necrosis factor, tumor necrosis factor receptors type 1 and 2, lymphotoxin-alpha, and HLA-DRB1 gene polymorphisms in human T-cell lymphotropic virus type I associated myelopathy. (PubMed id 11163081)^{1, 4, 9} Nishimura M....Uchiyama T. (2000)
Novel mutations in TNFRSF1A in patients with typical tumor necrosis factor receptor-associated periodic syndrome and with systemic lupus erythematosus in Japanese. (PubMed id 15492850)^{1, 4, 9} Horiuchi T....Okamura S. (2004)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 7132	HGNC: 11916	AceView: TNFRSF1A	Ensembl:ENSG00000067182	euGenes: HUgn7132
ECgene: TNFRSF1A	Kegg: 7132	H-InvDB: TNFRSF1A

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for TNFRSF1A	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for TNFRSF1A	Genetics and Cytogenetics in Oncology and Haematology
INFEVERS	http://fmf.igh.cnrs.fr/ISSAID/infevers/search.php?n=2
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TNFRSF1A
SeattleSNPs	http://pga.gs.washington.edu/data/tnfrsf1a/

Intellectual Property for TNFRSF1A gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for TNFRSF1A gene:
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GeneCards and IP:
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TNFRSF1A Gene

tumor necrosis factor receptor superfamily, member 1A

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TNFRSF1A (Gene Symbol)
Tumor Necrosis Factor Receptor Superfamily, Member 1A
TNFAR
TNFR1
CD120a
TNF-R
TNF-R-I
TNF-R55
TNFR60
TNF-R1
TNF-RI
TNFR-I
P55
P60
FPF
MS5
TBP1
TNFR1-D2
TNFR55
P55-R
Tumor Necrosis Factor Binding Protein 1
Tumor Necrosis Factor Receptor 1A Isoform Beta
Tumor Necrosis Factor Receptor Superfamily Member 1A
Tumor Necrosis Factor Receptor Type 1
Tumor Necrosis Factor-Alpha Receptor
CD120a Antigen
Tumor Necrosis Factor Receptor 1
Tumor Necrosis Factor Receptor Type I

CINCA SYNDROME
Spondylitis Ankylosing
HERPES
Leukemia T-Cell
Genetic Susceptibility
sepsis
Hepatitis Chronic
TUMOR NECROSIS FACTOR RECEPTOR-ASSOCIATED PERIODIC SYNDROME
Lymphoma T-Cell
Myocardial Ischemia
Ameloblastoma
Liver diseases
Breast Cancer
anaplastic large cell lymphoma
Edema
Schizophrenia
ALVEOLITIS
Amyloidosis
cell damage
disability
Cancer
Obstruction
malignant ascites
Uveitis
Lymphoma
Cardiomyopathy
COLON ADENOCARCINOMA
Ectodermal Dysplasia
Multiple Sclerosis
Inflammation
Cowpox
Tuberculosis
Monocytic leukemia
MUCKLE-WELLS SYNDROME
Leukemia Hairy Cell
immunodeficiency
Psoriasis
Neutropenia
Hepatitis B
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Rheumatoid Arthritis
Tumors
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Relapsing Fever
virus infection
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Malignant Glioma
Shock Septic
Hereditary Periodic Fever Syndromes
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Leishmaniasis
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Familial Mediterranean Fever
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TNFRSF1A Gene

tumor necrosis factor receptor superfamily, member 1A

Aliasesfor TNFRSF1A gene

Summariesfor TNFRSF1A gene

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Proteinsfor TNFRSF1A gene

Protein Domains /Familiesfor TNFRSF1A gene

Functionfor TNFRSF1A gene

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Aliases
for TNFRSF1A gene

Summaries
for TNFRSF1A gene

Genomic Views
for TNFRSF1A gene

Proteins
for TNFRSF1A gene

Protein Domains /
Families
for TNFRSF1A gene

Function
for TNFRSF1A gene

Pathways & Interactions
for TNFRSF1A gene

Drugs & Compounds
for TNFRSF1A gene

Transcripts
for TNFRSF1A gene

Expression
for TNFRSF1A gene

Orthologs
for TNFRSF1A gene

Paralogs
for TNFRSF1A gene

Genomic Variants
for TNFRSF1A gene

Disorders / Diseases
for TNFRSF1A gene

Publications
for TNFRSF1A gene

Intellectual Property
for TNFRSF1A gene

Products
for TNFRSF1A gene