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    SEL1L SEL1L ERAD E3 ligase adaptor subunit [ Homo sapiens (human) ]

    Gene ID: 6400, updated on 6-Aug-2017
    Official Symbol
    SEL1Lprovided by HGNC
    Official Full Name
    SEL1L ERAD E3 ligase adaptor subunitprovided by HGNC
    Primary source
    HGNC:HGNC:10717
    See related
    Ensembl:ENSG00000071537 MIM:602329; Vega:OTTHUMG00000171419
    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
    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]
    Orthologs
    Location:
    14q31.1
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 14 NC_000014.9 (81471547..81533864, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (81937891..82000205, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene stonin 2 Neighboring gene dynein light chain LC8-type 1 pseudogene 2 Neighboring gene long intergenic non-protein coding RNA 2308 Neighboring gene long intergenic non-protein coding RNA 1467 Neighboring gene eukaryotic translation elongation factor 1 alpha 1 pseudogene 2

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    Genome-wide association study of periodontal health measured by probing depth in adults ages 18-49 years.
    NHGRI GWA Catalog

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp160, precursor 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

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    • Asparagine N-linked glycosylation, organism-specific biosystem (from REACTOME)
      Asparagine N-linked glycosylation, organism-specific biosystemN-linked glycosylation is the most important form of post-translational modification for proteins synthesized and folded in the Endoplasmic Reticulum (Stanley et al. 2009). An early study in 1999 rev...
    • Calnexin/calreticulin cycle, organism-specific biosystem (from REACTOME)
      Calnexin/calreticulin cycle, organism-specific biosystemThe unfolded protein is recognized by a chaperon protein (calnexin or calreticulin) and the folding process starts. The binding of these protein requires a mono-glucosylated glycan (Caramelo JJ and P...
    • Defective CFTR causes cystic fibrosis, organism-specific biosystem (from REACTOME)
      Defective CFTR causes cystic fibrosis, organism-specific biosystemCystic fibrosis transmembrane conductance regulator (CFTR) is a low conductance chloride-selective channel that mediates the transport of chloride ions in human airway epithelial cells. Chloride ions...
    • Disease, organism-specific biosystem (from REACTOME)
      Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
    • Diseases of signal transduction, organism-specific biosystem (from REACTOME)
      Diseases of signal transduction, organism-specific biosystemSignaling processes are central to human physiology (e.g., Pires-da Silva & Sommer 2003), and their disruption by either germ-line and somatic mutation can lead to serious disease. Here, the molecula...
    • Disorders of transmembrane transporters, organism-specific biosystem (from REACTOME)
      Disorders of transmembrane transporters, organism-specific biosystemProteins with transporting functions can be roughly classified into 3 categories: ATP hydrolysis-coupled pumps, ion channels, and transporters. Pumps utilize the energy released by ATP hydrolysis to ...
    • ER Quality Control Compartment (ERQC), organism-specific biosystem (from REACTOME)
      ER Quality Control Compartment (ERQC), organism-specific biosystemProteins that are released from the CNX or CRT complex with folding defects accumulate in a compartment of the ER called ERQC (Kamhi-Nesher et al. 2001). Here, the enzymes UGGG1 or UGGG2 are able to ...
    • HRD1/SEL1 ERAD complex, organism-specific biosystem (from KEGG)
      HRD1/SEL1 ERAD complex, organism-specific biosystemStructural complex; Genetic information processing; Protein processing
    • HRD1/SEL1 ERAD complex, conserved biosystem (from KEGG)
      HRD1/SEL1 ERAD complex, conserved biosystemStructural complex; Genetic information processing; Protein processing
    • Hedgehog ligand biogenesis, organism-specific biosystem (from REACTOME)
      Hedgehog ligand biogenesis, organism-specific biosystemMammalian genomes encode three Hedgehog ligands, Sonic Hedgehog (SHH), Indian Hedgehog (IHH) and Desert Hedgehog (DHH). These secreted morphogens can remain associated with lipid rafts on the surfac...
    • Hh mutants abrogate ligand secretion, organism-specific biosystem (from REACTOME)
      Hh mutants abrogate ligand secretion, organism-specific biosystemHh signaling is required for a number of developmental processes, and mutations that disrupt the normal processing and biogenesis of Hh ligand can result in neonatal abnormalities. SHH is one of a n...
    • Hh mutants that don't undergo autocatalytic processing are degraded by ERAD, organism-specific biosystem (from REACTOME)
      Hh mutants that don't undergo autocatalytic processing are degraded by ERAD, organism-specific biosystemHh signaling is required for a number of developmental processes, and mutations that disrupt the normal processing and biogenesis of Hh ligand can result in neonatal abnormalities. SHH is one of a n...
    • Metabolism of proteins, organism-specific biosystem (from REACTOME)
      Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
    • N-glycan trimming in the ER and Calnexin/Calreticulin cycle, organism-specific biosystem (from REACTOME)
      N-glycan trimming in the ER and Calnexin/Calreticulin cycle, organism-specific biosystemAfter being synthesized in the ER membrane the 14-sugars lipid-linked oligosaccharide is co-translationally transferred to an unfolded protein, as described in the previous steps. After this point th...
    • Post-translational protein modification, organism-specific biosystem (from REACTOME)
      Post-translational protein modification, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...
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    • Pre-NOTCH Processing in Golgi, organism-specific biosystem (from REACTOME)
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    • Protein processing in endoplasmic reticulum, organism-specific biosystem (from KEGG)
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    • Protein processing in endoplasmic reticulum, conserved biosystem (from KEGG)
      Protein processing in endoplasmic reticulum, conserved biosystemThe endoplasmic reticulum (ER) is a subcellular organelle where proteins are folded with the help of lumenal chaperones. Newly synthesized peptides enter the ER via the sec61 pore and are glycosylate...
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling by Hedgehog, organism-specific biosystem (from REACTOME)
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    • Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
      Transmembrane transport of small molecules, organism-specific biosystem
      Transmembrane transport of small molecules
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    ERAD pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    ERAD pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Notch signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    endoplasmic reticulum mannose trimming TAS
    Traceable Author Statement
    more info
     
    protein secretion ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    protein stabilization TAS
    Traceable Author Statement
    more info
    PubMed 
    retrograde protein transport, ER to cytosol IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    transmembrane transport TAS
    Traceable Author Statement
    more info
     
    triglyceride metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    ubiquitin-dependent ERAD pathway TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    Derlin-1 retrotranslocation complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Hrd1p ubiquitin ligase ERAD-L complex IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Hrd1p ubiquitin ligase complex TAS
    Traceable Author Statement
    more info
    PubMed 
    endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    endoplasmic reticulum quality control compartment IEA
    Inferred from Electronic Annotation
    more info
     
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    protein sel-1 homolog 1
    Names
    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

    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
      5001..67315
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001244984.1NP_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, OTTHUMP00000245988, ENST00000555824.5, OTTHUMT00000413329
      Conserved Domains (4) summary
      smart00059
      Location:120168
      FN2; Fibronectin type 2 domain
      smart00671
      Location:255290
      SEL1; Sel1-like repeats
      COG0790
      Location:183297
      TPR; TPR repeat [Signal transduction mechanisms]
      sd00010
      Location:205231
      SLR; SLR repeat [structural motif]
    2. NM_005065.5NP_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
      Q9UBV2
      UniProtKB/TrEMBL
      Q3ZCU6
      Related
      ENSP00000337053.4, OTTHUMP00000245987, ENST00000336735.8, OTTHUMT00000413325
      Conserved Domains (4) summary
      smart00059
      Location:120168
      FN2; Fibronectin type 2 domain
      smart00671
      Location:483518
      SEL1; Sel1-like repeats
      COG0790
      Location:186453
      TPR; TPR repeat [Signal transduction mechanisms]
      sd00010
      Location:393422
      SLR; SLR repeat [structural motif]

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p7 Primary Assembly

      Range
      81471547..81533864 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      Conserved Domains (4) summary
      smart00059
      Location:120168
      FN2; Fibronectin type 2 domain
      smart00671
      Location:460495
      SEL1; Sel1-like repeats
      COG0790
      Location:149495
      TPR; TPR repeat [Signal transduction mechanisms]
      sd00010
      Location:407436
      SLR; SLR repeat [structural motif]
    2. XM_005267988.2XP_005268045.1  protein sel-1 homolog 1 isoform X1

      Conserved Domains (4) summary
      smart00671
      Location:462497
      SEL1; Sel1-like repeats
      COG0790
      Location:165432
      TPR; TPR repeat [Signal transduction mechanisms]
      sd00010
      Location:372401
      SLR; SLR repeat [structural motif]
      pfam00040
      Location:114147
      fn2; Fibronectin type II domain

    Alternate CHM1_1.1

    Genomic

    1. NC_018925.2 Alternate CHM1_1.1

      Range
      81875670..81937976 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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