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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
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Genomic context

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See SEL1L in Genome Data Viewer
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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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

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