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

Gene ID: 6400, updated on 12-Apr-2026
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; NEDGSAF; NEDHGFA; 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
all
Try the new Gene page
Try the new Transcripts and proteins table
See SEL1L in Genome Data Viewer
Location:
14q31.1
Exon count:
21
Annotation release Status Assembly Chr Location
RS_2025_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (81471547..81533853, complement)
RS_2025_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (75686983..75749287, complement)
RS_2024_09 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

Go to nucleotide: Graphics FASTA GenBank

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Related articles in PubMed

  1. SEL-1L maps to human chromosome 14, near the insulin-dependent diabetes mellitus locus 11. Donoviel DB, et al. Genomics, 1999 Mar 1. PMID 10051412
  2. A novel polymorphism in SEL1L confers susceptibility to Alzheimer's disease. Saltini G, et al. Neurosci Lett, 2006 May 1. PMID 16412574
  3. 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
  4. [Expression of human Sel-1-like gene and its significance in esophageal cancer]. Li H, et al. Zhonghua Bing Li Xue Za Zhi, 2007 Jun. PMID 17822620
  5. SEL1L microsatellite polymorphism in Japanese patients with autoimmune thyroid diseases. Ban Y, et al. Thyroid, 2001 Apr. PMID 11349831

See all (159) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Regulation of hepatic inclusions and fibrinogen biogenesis by SEL1L-HRD1 ERAD.
    Title: Regulation of hepatic inclusions and fibrinogen biogenesis by SEL1L-HRD1 ERAD.
  2. ER-associated degradation adapter Sel1L is required for CD8[+] T cell function and memory formation following acute viral infection.
    Title: ER-associated degradation adapter Sel1L is required for CD8(+) T cell function and memory formation following acute viral infection.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. SEL1L degradation intermediates stimulate cytosolic aggregation of polyglutamine-expanded protein.
    Title: SEL1L degradation intermediates stimulate cytosolic aggregation of polyglutamine-expanded protein.
  8. SEL1L plays a major role in human malignant gliomas.
    Title: SEL1L plays a major role in human malignant gliomas.
  9. 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.
  10. 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.
Submit: New GeneRIF Correction See all GeneRIFs (43)

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
Neurodevelopmental disorder with hypotonia, poor growth, dysmorphic facies, and agammaglobulinemia
MedGen: C5975596 OMIM: 621068 GeneReviews: Not available
not available
Neurodevelopmental disorder with poor growth, absent speech, progressive ataxia, and dysmorphic facies
MedGen: C5975594 OMIM: 621067 GeneReviews: Not available
not available

EBI GWAS Catalog

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

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

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

Products Interactant Other Gene Complex Source Pubs Description

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 IEA
Inferred from Electronic Annotation
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 NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in ERAD pathway TAS
Traceable Author Statement
more info
 PubMed 
involved_in protein secretion 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 protein transport IEA
Inferred from Electronic Annotation
more info
  
involved_in retrograde protein transport, ER to cytosol IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in triglyceride metabolic process IEA
Inferred from Electronic Annotation
more info
  
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 IDA
Inferred from Direct Assay
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 IEA
Inferred from Electronic Annotation
more info
  
located_in endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
  
located_in endoplasmic reticulum quality control compartment IPI
Inferred from Physical Interaction
more info
 PubMed 
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

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_2025_08

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

    Related
    ENSP00000623191.1, ENST00000953132.1
    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

    Related
    ENSP00000540964.1, ENST00000870905.1
    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

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