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

Gene ID: 6400, updated on 29-Mar-2020

Summary

Official Symbol
SEL1Lprovided by HGNC
Official Full Name
SEL1L adaptor subunit of ERAD E3 ubiquitin ligaseprovided by HGNC
Primary source
HGNC:HGNC:10717
See related
Ensembl:ENSG00000071537 MIM:602329
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

Genomic context

See SEL1L in Genome Data Viewer
Location:
14q31.1
Exon count:
21
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (81471547..81533861, 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

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

HIV-1 interactions

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
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
 

General protein information

Preferred Names
protein sel-1 homolog 1
Names
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)

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_001244984.1NP_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, ENST00000555824.5
    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_005065.6NP_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, ENST00000336735.9
    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 Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p13 Primary Assembly

    Range
    81471547..81533861 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005267989.4XP_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_005267988.3XP_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
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