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    RELT RELT TNF receptor [ Homo sapiens (human) ]

    Gene ID: 84957, updated on 5-Mar-2024

    Summary

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    Official Symbol
    RELTprovided by HGNC
    Official Full Name
    RELT TNF receptorprovided by HGNC
    Primary source
    HGNC:HGNC:13764
    See related
    Ensembl:ENSG00000054967 MIM:611211; AllianceGenome:HGNC:13764
    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
    AI3C; TRLT; TNFRSF19L
    Summary
    The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor is especially abundant in hematologic tissues. It has been shown to activate the NF-kappaB pathway and selectively bind TNF receptor-associated factor 1 (TRAF1). This receptor is capable of stimulating T-cell proliferation in the presence of CD3 signaling, which suggests its regulatory role in immune response. Two alternatively spliced transcript variants of this gene encoding the same protein have been reported. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in bone marrow (RPKM 25.4), spleen (RPKM 6.1) and 8 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    11q13.4
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (73376399..73397474)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (73305536..73326611)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (73087444..73108519)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3737 Neighboring gene ARHGEF17 antisense RNA 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:73019433-73020310 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:73020316-73021136 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5234 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:73031799-73032452 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:73032453-73033105 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:73033106-73033758 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:73036372-73037023 Neighboring gene Rho guanine nucleotide exchange factor 17 Neighboring gene Sharpr-MPRA regulatory region 2623 Neighboring gene uncharacterized LOC124902710 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:73044313-73045026 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:73061599-73062100 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:73073093-73073599 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5235 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3740 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3741 Neighboring gene Sharpr-MPRA regulatory region 2034 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3742 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5236 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3743 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:73097219-73098168 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:73098169-73099116 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:73099117-73100064 Neighboring gene family with sequence similarity 168 member A Neighboring gene MPRA-validated peak1349 silencer Neighboring gene MPRA-validated peak1350 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:73166211-73166710 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr11:73205355-73205873 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:73205874-73206391 Neighboring gene NANOG hESC enhancer GRCh37_chr11:73262685-73263225 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:73264745-73264969 Neighboring gene Sharpr-MPRA regulatory region 14801 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:73308491-73309219 Neighboring gene high mobility group nucleosomal binding domain 2 pseudogene 38 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3745 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:73336706-73337222 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:73337223-73337737 Neighboring gene MIA SH3 domain ER export factor 2 pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. RELT promotes the growth of esophageal squamous cell carcinoma by activating the NF-κB pathway. Yao W, et al. Cell Cycle, 2021 Jul. PMID 34121605, Free PMC Article
    2. New missense variants in RELT causing hypomineralised amelogenesis imperfecta. Nikolopoulos G, et al. Clin Genet, 2020 May. PMID 32052416, Free PMC Article
    3. Interactions of tumor necrosis factor (TNF) and TNF receptor family members in the mouse and human. Bossen C, et al. J Biol Chem, 2006 May 19. PMID 16547002
    4. RELT, a new member of the tumor necrosis factor receptor superfamily, is selectively expressed in hematopoietic tissues and activates transcription factor NF-kappaB. Sica GL, et al. Blood, 2001 May 1. PMID 11313261
    5. Mutations in RELT cause autosomal recessive amelogenesis imperfecta. Kim JW, et al. Clin Genet, 2019 Mar. PMID 30506946, Free PMC Article

    See all (26) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. RELT promotes the growth of esophageal squamous cell carcinoma by activating the NF-kappaB pathway.
      Title: RELT promotes the growth of esophageal squamous cell carcinoma by activating the NF-κB pathway.
    2. New missense variants in RELT causing hypomineralised amelogenesis imperfecta.
      Title: New missense variants in RELT causing hypomineralised amelogenesis imperfecta.
    3. Collectively, this study provides more insights into RELT expression, RELT family member function, and the mechanism of RELT-induced death.
      Title: RELT family members activate p38 and induce apoptosis by a mechanism distinct from TNFR1.
    4. report that overexpression of RELT or its homologues RELL1 and RELL2 in HEK 293 epithelial cells results in cell death with morphological characteristics consistent with the activation of an apoptotic pathway.
      Title: RELT induces cellular death in HEK 293 epithelial cells.
    5. Receptor expressed in lymphoid tissue (RELT) and its novel homologues RELL1 and RELL2 co-localize with one another at the plasma membrane.
      Title: Identification of RELT homologues that associate with RELT and are phosphorylated by OSR1.
    Submit: New GeneRIF Correction

    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

    Associated conditions

    Description Tests
    Amelogenesis imperfecta, type 3c
    MedGen: C5193069 OMIM: 618386 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    HIV-1 infection (VSV-G pseudotyped) of CEMT4 T cells downregulates plasma membrane expression of RELT PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ14993

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in amelogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in amelogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in apoptotic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in perinuclear region of cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    tumor necrosis factor receptor superfamily member 19L
    Names
    RELT tumor necrosis factor receptor
    receptor expressed in lymphoid tissues

    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.

    mRNA and Protein(s)

    1. NM_001425248.1 → NP_001412177.1  tumor necrosis factor receptor superfamily member 19L isoform 2 precursor

      Status: REVIEWED

      Source sequence(s)
      AP000562, AP000763

    2. NM_001425249.1 → NP_001412178.1  tumor necrosis factor receptor superfamily member 19L isoform 3 precursor

      Status: REVIEWED

      Source sequence(s)
      AP000562, AP000763

    3. NM_001425250.1 → NP_001412179.1  tumor necrosis factor receptor superfamily member 19L isoform 4 precursor

      Status: REVIEWED

      Source sequence(s)
      AP000562, AP000763

    4. NM_001425251.1 → NP_001412180.1  tumor necrosis factor receptor superfamily member 19L isoform 5

      Status: REVIEWED

      Source sequence(s)
      AP000562, AP000763

    5. NM_001425252.1 → NP_001412181.1  tumor necrosis factor receptor superfamily member 19L isoform 6 precursor

      Status: REVIEWED

      Source sequence(s)
      AP000562, AP000763

    6. NM_001425253.1 → NP_001412182.1  tumor necrosis factor receptor superfamily member 19L isoform 7 precursor

      Status: REVIEWED

      Source sequence(s)
      AP000562, AP000763

    7. NM_032871.4 → NP_116260.2  tumor necrosis factor receptor superfamily member 19L isoform 1 precursor

      See identical proteins and their annotated locations for NP_116260.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) differs in the 5' UTR compared to variant 2. Both variants encode the same protein.
      Source sequence(s)
      AP000562, AP000763
      Consensus CDS
      CCDS8222.1
      UniProtKB/Swiss-Prot
      Q86V34, Q969Z4, Q96JU1, Q9BUX7
      Related
      ENSP00000377207.2, ENST00000393580.2
      Conserved Domains (2) summary
      cd13419
      Location:27 → 112
      TNFRSF19L; tumor necrosis factor receptor superfamily member 19-like (TNFRSF19L), also known as receptor expressed in lymphoid tissues (RELT)
      pfam12606
      Location:163 → 198
      RELT; tumor necrosis factor receptor superfamily member 19

    8. NM_152222.2 → NP_689408.1  tumor necrosis factor receptor superfamily member 19L isoform 1 precursor

      See identical proteins and their annotated locations for NP_689408.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants encode the same protein.
      Source sequence(s)
      AP000562, AP000763
      Consensus CDS
      CCDS8222.1
      UniProtKB/Swiss-Prot
      Q86V34, Q969Z4, Q96JU1, Q9BUX7
      Related
      ENSP00000064780.2, ENST00000064780.7
      Conserved Domains (2) summary
      cd13419
      Location:27 → 112
      TNFRSF19L; tumor necrosis factor receptor superfamily member 19-like (TNFRSF19L), also known as receptor expressed in lymphoid tissues (RELT)
      pfam12606
      Location:163 → 198
      RELT; tumor necrosis factor receptor superfamily member 19

    RNA

    1. NR_189151.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AP000562, AP000763

    2. NR_189152.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AP000562, AP000763

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      73376399..73397474
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047427758.1 → XP_047283714.1  tumor necrosis factor receptor superfamily member 19L isoform X2

    2. XM_047427757.1 → XP_047283713.1  tumor necrosis factor receptor superfamily member 19L isoform X1

    3. XM_047427759.1 → XP_047283715.1  tumor necrosis factor receptor superfamily member 19L isoform X3

    4. XM_047427760.1 → XP_047283716.1  tumor necrosis factor receptor superfamily member 19L isoform X4

    5. XM_047427761.1 → XP_047283717.1  tumor necrosis factor receptor superfamily member 19L isoform X5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      73305536..73326611
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054370266.1 → XP_054226241.1  tumor necrosis factor receptor superfamily member 19L isoform X2

    2. XM_054370265.1 → XP_054226240.1  tumor necrosis factor receptor superfamily member 19L isoform X1

    3. XM_054370267.1 → XP_054226242.1  tumor necrosis factor receptor superfamily member 19L isoform X3

    4. XM_054370268.1 → XP_054226243.1  tumor necrosis factor receptor superfamily member 19L isoform X4

    5. XM_054370269.1 → XP_054226244.1  tumor necrosis factor receptor superfamily member 19L isoform X5

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q969Z4.1 GenPept UniProtKB/Swiss-Prot:Q969Z4

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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