TNFRSF10A TNF receptor superfamily member 10a [Homo sapiens (human)] - Gene

Summary

Official Symbol: TNFRSF10Aprovided by HGNC
Official Full Name: TNF receptor superfamily member 10aprovided by HGNC
Primary source: HGNC:HGNC:11904
See related: Ensembl:ENSG00000104689 MIM:603611; AllianceGenome:HGNC:11904
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: DR4; APO2; CD261; TRAILR1; TRAILR-1
Summary: The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor is activated by tumor necrosis factor-related apoptosis inducing ligand (TNFSF10/TRAIL), and thus transduces cell death signal and induces cell apoptosis. Studies with FADD-deficient mice suggested that FADD, a death domain containing adaptor protein, is required for the apoptosis mediated by this protein. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in lymph node (RPKM 4.9), appendix (RPKM 4.2) and 24 other tissues See more
Orthologs: all
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Genomic context

Location:: 8p21.3

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (23190452..23225102, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (23465337..23499970, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (23047965..23082615, complement)

Chromosome 8 - NC_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Genetic variations in tumor ecrosis factor related apoptosis-inducing ligand receptor-1 (TRAIL-R1) gene and the susceptibility to b-cell non-hodgkin lymphoma (B-NHL) in Egypt.
Title: Genetic variations in tumor ecrosis factor related apoptosis-inducing ligand receptor-1 (TRAIL-R1) gene and the susceptibility to b-cell non-hodgkin lymphoma (B-NHL) in Egypt.
Associations of Single-Nucleotide Polymorphisms in Slovenian Patients with Acute Central Serous Chorioretinopathy.
Title: Associations of Single-Nucleotide Polymorphisms in Slovenian Patients with Acute Central Serous Chorioretinopathy.
Epigenetic Modification of Death Receptor Genes for TRAIL and TRAIL Resistance in Childhood B-Cell Precursor Acute Lymphoblastic Leukemia.
Title: Epigenetic Modification of Death Receptor Genes for TRAIL and TRAIL Resistance in Childhood B-Cell Precursor Acute Lymphoblastic Leukemia.
Oxaliplatin resistance in colorectal cancer enhances TRAIL sensitivity via death receptor 4 upregulation and lipid raft localization.
Title: Oxaliplatin resistance in colorectal cancer enhances TRAIL sensitivity via death receptor 4 upregulation and lipid raft localization.
Downregulation of death receptor 4 is tightly associated with positive response of EGFR mutant lung cancer to EGFR-targeted therapy and improved prognosis.
Title: Downregulation of death receptor 4 is tightly associated with positive response of EGFR mutant lung cancer to EGFR-targeted therapy and improved prognosis.
TNF-Related Apoptosis-Inducing Ligand Receptor 1 in Patients With Ankylosing Spondylitis.
Title: TNF-Related Apoptosis-Inducing Ligand Receptor 1 in Patients With Ankylosing Spondylitis.
TRAILR1 (rs20576) and GRIA3 (rs12557782) are not associated with interferon-beta response in multiple sclerosis patients.
Title: TRAILR1 (rs20576) and GRIA3 (rs12557782) are not associated with interferon-β response in multiple sclerosis patients.
O-glycans on death receptors in cells modulate their sensitivity to TRAIL-induced apoptosis through affecting on their stability and oligomerization.
Title: O-glycans on death receptors in cells modulate their sensitivity to TRAIL-induced apoptosis through affecting on their stability and oligomerization.
The Impact of TRAIL (C1595T and G1525A) and DR4 (rs20576) Gene Polymorphisms on Systemic Lupus Erythematosus.
Title: The Impact of TRAIL (C1595T and G1525A) and DR4 (rs20576) Gene Polymorphisms on Systemic Lupus Erythematosus.
TRAIL-R1 and TRAIL-R2 Mediate TRAIL-Dependent Apoptosis in Activated Primary Human B Lymphocytes.
Title: TRAIL-R1 and TRAIL-R2 Mediate TRAIL-Dependent Apoptosis in Activated Primary Human B Lymphocytes.

Submit: New GeneRIF Correction See all GeneRIFs (189)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association study identifies two susceptibility loci for exudative age-related macular degeneration in the Japanese population. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis of genome-wide association studies of attention-deficit/hyperactivity disorder. EBI GWAS Catalog EBI GWAS CatalogPubMed
Seven new loci associated with age-related macular degeneration. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Infectious wild type HIV-1 production is restricted by 293T cells over-expressing TNFRSF10A	PubMed

Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	Treatment of CD4+ T cells with HIV-1 gp120 results in the upregulation of TRAIL death receptor expression and acquired sensitivity to TRAIL mediated cell death; this effect of gp120 requires the chemokine coreceptor CXCR4, but not CCR5 or the CD4 receptor	PubMed
	env	Gp120-induced M-CSF downregulates the TRAIL receptor TRAIL-R1/DR4 and upregulates the anti-apoptotic genes Bfl-1 and Mcl-1	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH67885 (e-PCR)
- UniSTS:55396

TNFRSF10A_2005 (e-PCR)
- UniSTS:281061

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables TRAIL binding	NAS Non-traceable Author Statement more info	PubMed
enables death receptor activity	TAS Traceable Author Statement more info	PubMed
enables identical protein binding	IDA Inferred from Direct Assay more info	PubMed
enables protease binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables signaling receptor activity	NAS Non-traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in TRAIL-activated apoptotic signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in TRAIL-activated apoptotic signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in TRAIL-activated apoptotic signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in activation of NF-kappaB-inducing kinase activity	NAS Non-traceable Author Statement more info	PubMed
involved_in apoptotic process	NAS Non-traceable Author Statement more info	PubMed
involved_in cellular response to mechanical stimulus	IEP Inferred from Expression Pattern more info	PubMed
involved_in extrinsic apoptotic signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in extrinsic apoptotic signaling pathway via death domain receptors	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of apoptotic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in signal transduction	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi apparatus	IDA Inferred from Direct Assay more info	PubMed
is_active_in cell surface	IBA Inferred from Biological aspect of Ancestor more info
located_in cell surface	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in membrane raft	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: tumor necrosis factor receptor superfamily member 10A

Names: TNF-related apoptosis-inducing ligand receptor 1; TRAIL receptor 1; TRAIL-R1; cytotoxic TRAIL receptor; death receptor 4; tumor necrosis factor receptor superfamily, member 10a

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_032107.1 RefSeqGene

Range

5066..39716

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_003844.4 → NP_003835.3 tumor necrosis factor receptor superfamily member 10A

See identical proteins and their annotated locations for NP_003835.3

Status: REVIEWED

Source sequence(s)

AC100861, BC012866, CN423254

Consensus CDS

CCDS6039.1

UniProtKB/Swiss-Prot

A8K5I4, O00220, Q53Y72, Q96E62

UniProtKB/TrEMBL

C1K3N4

Related

ENSP00000221132.3, ENST00000221132.8

Conserved Domains (2) summary

cd08315
Location:367 → 454

Death_TRAILR_DR4_DR5; Death domain of Tumor necrosis factor-Related Apoptosis-Inducing Ligand Receptors

cd10580
Location:129 → 230

TNFRSF10; Tumor necrosis factor receptor superfamily member 10 (TNFRSF10), includes TNFRSF10A (DR4), TNFRSF10B (DR5), TNFRSF10C (DcR1) and TNFRSF10D (DcR2)