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    SEL1L SEL1L adaptor subunit of SYVN1 ubiquitin ligase [ Homo sapiens (human) ]

    Gene ID: 6400, updated on 7-Apr-2024

    Summary

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    Official Symbol
    SEL1Lprovided by HGNC
    Official Full Name
    SEL1L adaptor subunit of SYVN1 ubiquitin ligaseprovided by HGNC
    Primary source
    HGNC:HGNC:10717
    See related
    Ensembl:ENSG00000071537 MIM:602329; AllianceGenome:HGNC:10717
    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
    Hrd3; SEL1L1; PRO1063; SEL1-LIKE
    Summary
    The protein encoded by this gene is part of a protein complex required for the retrotranslocation or dislocation of misfolded proteins from the endoplasmic reticulum lumen to the cytosol, where they are degraded by the proteasome in a ubiquitin-dependent manner. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
    Expression
    Ubiquitous expression in pancreas (RPKM 48.9), thyroid (RPKM 38.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    14q31.1
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (81471547..81533853, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (75686983..75749287, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (81937891..82000197, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene stonin 2 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr14:81893820-81894324 Neighboring gene dynein light chain LC8-type 1 pseudogene 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:81915824-81916798 Neighboring gene long intergenic non-protein coding RNA 2308 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8829 Neighboring gene MPRA-validated peak2221 silencer Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:81999985-82000484 Neighboring gene NANOG hESC enhancer GRCh37_chr14:82004271-82004943 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8830 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr14:82027640-82028183 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr14:82079661-82080436 Neighboring gene long intergenic non-protein coding RNA 1467 Neighboring gene eukaryotic translation elongation factor 1 alpha 1 pseudogene 2

    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. SEL1L plays a major role in human malignant gliomas. Mellai M, et al. J Pathol Clin Res, 2020 Jan. PMID 31111685, Free PMC Article
    2. SEL1L SNP rs12435998, a predictor of glioblastoma survival and response to radio-chemotherapy. Mellai M, et al. Oncotarget, 2015 May 20. PMID 25948789, Free PMC Article
    3. Down-modulation of SEL1L, an unfolded protein response and endoplasmic reticulum-associated degradation protein, sensitizes glioma stem cells to the cytotoxic effect of valproic acid. Cattaneo M, et al. J Biol Chem, 2014 Jan 31. PMID 24311781, Free PMC Article
    4. SEL1L, an UPR response protein, a potential marker of colonic cell transformation. Ashktorab H, et al. Dig Dis Sci, 2012 Apr. PMID 22350780, Free PMC Article
    5. A single-nucleotide polymorphism in tumor suppressor gene SEL1L as a predictive and prognostic marker for pancreatic ductal adenocarcinoma in Caucasians. Liu Q, et al. Mol Carcinog, 2012 May. PMID 21656579, Free PMC Article

    See all (135) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Genome-wide screens identify SEL1L as an intracellular rheostat controlling collagen turnover.
      Title: Genome-wide screens identify SEL1L as an intracellular rheostat controlling collagen turnover.
    2. Hypomorphic human SEL1L and HRD1 variants uncouple multilayered ER-associated degradation machinery.
      Title: Hypomorphic human SEL1L and HRD1 variants uncouple multilayered ER-associated degradation machinery.
    3. Hypomorphic variants of SEL1L-HRD1 ER-associated degradation are associated with neurodevelopmental disorders.
      Title: Hypomorphic variants of SEL1L-HRD1 ER-associated degradation are associated with neurodevelopmental disorders.
    4. Association between SYVN1 and SEL1 genetic polymorphisms and remission in rheumatoid arthritis patients treated with TNF-alpha inhibitors: a machine learning approach.
      Title: Association between SYVN1 and SEL1 genetic polymorphisms and remission in rheumatoid arthritis patients treated with TNF-α inhibitors: a machine learning approach.
    5. SEL1L degradation intermediates stimulate cytosolic aggregation of polyglutamine-expanded protein.
      Title: SEL1L degradation intermediates stimulate cytosolic aggregation of polyglutamine-expanded protein.
    6. SEL1L plays a major role in human malignant gliomas.
      Title: SEL1L plays a major role in human malignant gliomas.
    7. Sel1L-Hrd1 ER-associated degradation maintains beta cell identity via TGF-beta signaling.
      Title: Sel1L-Hrd1 ER-associated degradation maintains β cell identity via TGF-β signaling.
    8. Narrowing down the Common Cytogenetic Deletion 14q to a 5.6-Mb Critical Region in 1p/19q Codeletion Oligodendroglioma-Relapsed Patients Points to Two Potential Relapse-Related Genes: SEL1L and STON2.
      Title: Narrowing down the Common Cytogenetic Deletion 14q to a 5.6-Mb Critical Region in 1p/19q Codeletion Oligodendroglioma-Relapsed Patients Points to Two Potential Relapse-Related Genes: SEL1L and STON2.
    9. we found key statistical differences for the proteins SEL1, Notch3 and SOCS3 in the progression of uterine cervical cancer
      Title: Protein Expression Analysis in Uterine Cervical Cancer for Potential Targets in Treatment.
    10. In summary, ER retention of pathogenic VLDLR mutants involves binding to calnexin, elevated endoplasmic reticulum stress, and delayed degradation which is dependent on SEL1L.
      Title: Degradation routes of trafficking-defective VLDLR mutants associated with Dysequilibrium syndrome.
    Submit: New GeneRIF Correction See all GeneRIFs (41)

    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 of periodontal health measured by probing depth in adults ages 18-49 years.
    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

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp160, precursor env HIV-1 gp160 interacts with SEL1L; predicted interaction to be within the endoplasmic reticulum and function as chaperone for endoplasmic reticulum-associated degradation PubMed
    env HIV-1 Env is identified to have a physical interaction with sel-1 suppressor of lin-12-like (SEL1L) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed
    Envelope transmembrane glycoprotein gp41 env HIV-1 gp41 is identified to have a physical interaction with sel-1 suppressor of lin-12-like (SEL1L) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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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

    Homology

    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 ERAD pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in ERAD pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in ERAD pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in ERAD pathway TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in Notch signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein secretion ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in protein stabilization TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in retrograde protein transport, ER to cytosol IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in triglyceride metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    part_of Derlin-1 retrotranslocation complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of Hrd1p ubiquitin ligase ERAD-L complex IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    part_of Hrd1p ubiquitin ligase complex TAS
    Traceable Author Statement
    more info
    		 PubMed 
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    protein sel-1 homolog 1
    Names
    SEL1L adaptor subunit of ERAD E3 ubiquitin ligase
    SEL1L, ERAD E3 ligase adaptor subunit
    Suppressor of lin 12 (sel-1), C. elegans, homolog of
    sel-1 suppressor of lin-12-like 1
    suppressor of lin-12-like protein 1

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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

    1. NG_030335.1 RefSeqGene

      Range
      5009..67315
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001244984.2 → NP_001231913.1  protein sel-1 homolog 1 isoform 2 precursor

      See identical proteins and their annotated locations for NP_001231913.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs at the 3' end compared to variant 1. This results in a shorter isoform (2) with a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AY358651, BP358857
      Consensus CDS
      CCDS58333.1
      UniProtKB/Swiss-Prot
      Q9UBV2
      Related
      ENSP00000450709.1, ENST00000555824.5
      Conserved Domains (3) summary
      smart00059
      Location:120 → 168
      FN2; Fibronectin type 2 domain
      COG0790
      Location:183 → 297
      TPR; TPR repeat [Signal transduction mechanisms]
      sd00010
      Location:205 → 231
      SLR; SLR repeat [structural motif]

    2. NM_005065.6 → NP_005056.3  protein sel-1 homolog 1 isoform 1 precursor

      See identical proteins and their annotated locations for NP_005056.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the predominant transcript, and encodes the longer isoform (1).
      Source sequence(s)
      AB020335, AF052059, BC040498, BP358857, CA447094, CB986742, DA351814, DA833312, ES313707
      Consensus CDS
      CCDS9876.1
      UniProtKB/Swiss-Prot
      Q6UWT6, Q9P1T9, Q9UBV2, Q9UHK7
      Related
      ENSP00000337053.4, ENST00000336735.9
      Conserved Domains (4) summary
      smart00059
      Location:120 → 168
      FN2; Fibronectin type 2 domain
      smart00671
      Location:483 → 518
      SEL1; Sel1-like repeats
      COG0790
      Location:186 → 453
      TPR; TPR repeat [Signal transduction mechanisms]
      sd00010
      Location:393 → 422
      SLR; SLR repeat [structural motif]

    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_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      81471547..81533853 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047431676.1 → XP_047287632.1  protein sel-1 homolog 1 isoform X3

    2. XM_005267988.4 → XP_005268045.1  protein sel-1 homolog 1 isoform X1

      Conserved Domains (4) summary
      smart00671
      Location:462 → 497
      SEL1; Sel1-like repeats
      COG0790
      Location:165 → 432
      TPR; TPR repeat [Signal transduction mechanisms]
      sd00010
      Location:372 → 401
      SLR; SLR repeat [structural motif]
      pfam00040
      Location:114 → 147
      fn2; Fibronectin type II domain

    3. XM_005267989.5 → XP_005268046.1  protein sel-1 homolog 1 isoform X2

      Conserved Domains (4) summary
      smart00059
      Location:120 → 168
      FN2; Fibronectin type 2 domain
      smart00671
      Location:460 → 495
      SEL1; Sel1-like repeats
      COG0790
      Location:149 → 495
      TPR; TPR repeat [Signal transduction mechanisms]
      sd00010
      Location:407 → 436
      SLR; SLR repeat [structural motif]

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      75686983..75749287 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054376559.1 → XP_054232534.1  protein sel-1 homolog 1 isoform X3

    2. XM_054376557.1 → XP_054232532.1  protein sel-1 homolog 1 isoform X1

    3. XM_054376558.1 → XP_054232533.1  protein sel-1 homolog 1 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UBV2.3 GenPept UniProtKB/Swiss-Prot:Q9UBV2

    Gene LinkOut

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

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