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    RELL1 RELT like 1 [ Homo sapiens (human) ]

    Gene ID: 768211, updated on 5-Mar-2024

    Summary

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    Official Symbol
    RELL1provided by HGNC
    Official Full Name
    RELT like 1provided by HGNC
    Primary source
    HGNC:HGNC:27379
    See related
    Ensembl:ENSG00000181826 MIM:611212; AllianceGenome:HGNC:27379
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    Involved in positive regulation of p38MAPK cascade. Located in microtubule cytoskeleton and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in stomach (RPKM 7.1), thyroid (RPKM 6.7) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    4p14
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (37586304..37686376, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (37559941..37655575, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (37592426..37687998, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_78898 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_78906 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_78938 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_78969 Neighboring gene NACHT and WD repeat domain containing 2 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_79062 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21413 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15347 Neighboring gene Sharpr-MPRA regulatory region 2247 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr4:37442795-37443994 Neighboring gene uncharacterized LOC124900691 Neighboring gene chromosome 4 open reading frame 19 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:37541047-37541547 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:37562271-37562772 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:37591458-37591958 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:37591959-37592459 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:37608503-37609142 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21414 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:37636677-37637177 Neighboring gene HNF4 motif-containing MPRA enhancer 255 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:37655185-37655838 Neighboring gene Sharpr-MPRA regulatory region 2227 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:37667691-37668890 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21415 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21416 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15348 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15349 Neighboring gene uncharacterized LOC105374404 Neighboring gene uncharacterized LOC105374406

    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. RELL1, a novel oncogene, accelerates tumor progression and regulates immune infiltrates in glioma. Jin X, et al. Int Immunopharmacol, 2020 Oct. PMID 32683297
    2. RELT induces cellular death in HEK 293 epithelial cells. Cusick JK, et al. Cell Immunol, 2010. PMID 19969290, Free PMC Article
    3. Identification of RELT homologues that associate with RELT and are phosphorylated by OSR1. Cusick JK, et al. Biochem Biophys Res Commun, 2006 Feb 10. PMID 16389068
    4. Identification of PLSCR1 as a protein that interacts with RELT family members. Cusick JK, et al. Mol Cell Biochem, 2012 Mar. PMID 22052202
    5. RELT family members activate p38 and induce apoptosis by a mechanism distinct from TNFR1. Moua P, et al. Biochem Biophys Res Commun, 2017 Sep 9. PMID 28688764, Free PMC Article

    See all (32) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. RELL1, a novel oncogene, accelerates tumor progression and regulates immune infiltrates in glioma.
      Title: RELL1, a novel oncogene, accelerates tumor progression and regulates immune infiltrates in glioma.
    2. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    3. 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.
    4. Binds to the TNF receptor family member RELT; homologue of RELT.
      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

    EBI GWAS Catalog

    Description
    Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
    EBI GWAS Catalog

    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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ21778, MGC50583

    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 positive regulation of p38MAPK cascade IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of p38MAPK cascade IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in microtubule cytoskeleton IDA
    Inferred from Direct Assay
    more info
    		  
    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
    		  

    General protein information

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    Preferred Names
    RELT-like protein 1
    Names
    receptor expressed in lymphoid tissues like 1
    tmp_locus_29

    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_001085399.2 → NP_001078868.1  RELT-like protein 1 precursor

      See identical proteins and their annotated locations for NP_001078868.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 3' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AK075468, BC039540, DA400382
      Consensus CDS
      CCDS43221.1
      UniProtKB/Swiss-Prot
      Q8IUW5, Q8NBK1
      Related
      ENSP00000313385.4, ENST00000314117.8
      Conserved Domains (1) summary
      pfam12606
      Location:58 → 95
      RELT; tumor necrosis factor receptor superfamily member 19

    2. NM_001085400.2 → NP_001078869.1  RELT-like protein 1 precursor

      See identical proteins and their annotated locations for NP_001078869.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC027607, AC108022
      Consensus CDS
      CCDS43221.1
      UniProtKB/Swiss-Prot
      Q8IUW5, Q8NBK1
      Related
      ENSP00000398778.2, ENST00000454158.7
      Conserved Domains (1) summary
      pfam12606
      Location:58 → 95
      RELT; tumor necrosis factor receptor superfamily member 19

    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_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      37586304..37686376 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017008590.3 → XP_016864079.1  RELT-like protein 1 isoform X1

    RNA

    1. XR_007057961.1 RNA Sequence

    2. XR_007057960.1 RNA Sequence

    3. XR_007057958.1 RNA Sequence

    4. XR_007057959.1 RNA Sequence

    5. XR_007057957.1 RNA Sequence

    6. XR_007057956.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      37559941..37655575 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054350811.1 → XP_054206786.1  RELT-like protein 1 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8IUW5.1 GenPept UniProtKB/Swiss-Prot:Q8IUW5

    Gene LinkOut

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

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