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DERL1 derlin 1 [ Homo sapiens (human) ]

Gene ID: 79139, updated on 8-Jul-2021

Summary

Official Symbol
DERL1provided by HGNC
Official Full Name
derlin 1provided by HGNC
Primary source
HGNC:HGNC:28454
See related
Ensembl:ENSG00000136986 MIM:608813
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
DER1; DER-1; derlin-1
Summary
The protein encoded by this gene is a member of the derlin family. Members of this family participate in the ER-associated degradation response and retrotranslocate misfolded or unfolded proteins from the ER lumen to the cytosol for proteasomal degradation. This protein recognizes substrate in the ER and works in a complex to retrotranslocate it across the ER membrane into the cytosol. This protein may select cystic fibrosis transmembrane conductance regulator protein (CFTR) for degradation as well as unfolded proteins in Alzheimer's disease. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Aug 2012]
Expression
Ubiquitous expression in thyroid (RPKM 22.2), fat (RPKM 21.9) and 25 other tissues See more
Orthologs
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Genomic context

See DERL1 in Genome Data Viewer
Location:
8q24.13
Exon count:
9
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (123013170..123042302, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (124025410..124054542, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene cyclin dependent kinase 5 pseudogene 1 Neighboring gene zinc fingers and homeoboxes 2 Neighboring gene TBC1 domain family member 31 Neighboring gene RNY4 pseudogene 5 Neighboring gene high mobility group box 1 pseudogene 19

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?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC3067, FLJ13784, FLJ42092

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATPase binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables MHC class I protein binding IDA
Inferred from Direct Assay
more info
PubMed 
enables identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables misfolded protein binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables protease binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein-containing complex binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables signal recognition particle binding IDA
Inferred from Direct Assay
more info
PubMed 
enables signaling receptor activity NAS
Non-traceable Author Statement
more info
PubMed 
enables ubiquitin protein ligase binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables ubiquitin-specific protease binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables ubiquitin-specific protease binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in ER-associated misfolded protein catabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in ERAD pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in endoplasmic reticulum unfolded protein response IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in endoplasmic reticulum unfolded protein response IDA
Inferred from Direct Assay
more info
PubMed 
involved_in establishment of protein localization TAS
Traceable Author Statement
more info
PubMed 
involved_in positive regulation of protein binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of protein ubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
involved_in protein destabilization IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within response to unfolded protein IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in retrograde protein transport, ER to cytosol IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within retrograde protein transport, ER to cytosol IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in retrograde protein transport, ER to cytosol IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in ubiquitin-dependent ERAD pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in ubiquitin-dependent ERAD pathway IDA
Inferred from Direct Assay
more info
PubMed 
involved_in ubiquitin-dependent ERAD pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in ubiquitin-dependent ERAD pathway TAS
Traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
derlin-1
Names
DERtrin-1
Der1-like domain family, member 1
degradation in endoplasmic reticulum 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.

mRNA and Protein(s)

  1. NM_001134671.3NP_001128143.1  derlin-1 isoform b

    See identical proteins and their annotated locations for NP_001128143.1

    Status: REVIEWED

    Source sequence(s)
    AA976062, AF131854, AK023846, AK124086, AY358818, DA800358, DA906855
    Consensus CDS
    CCDS47915.1
    UniProtKB/Swiss-Prot
    Q9BUN8
    Related
    ENSP00000384289.3, ENST00000405944.7
    Conserved Domains (1) summary
    pfam04511
    Location:11184
    DER1; Der1-like family
  2. NM_001330601.2NP_001317530.1  derlin-1 isoform c

    Status: REVIEWED

    Source sequence(s)
    AC104316
    Consensus CDS
    CCDS83319.1
    UniProtKB/TrEMBL
    E5RGY0
    Conserved Domains (1) summary
    cl21536
    Location:1104
    Rhomboid; Rhomboid family
  3. NM_001363963.2NP_001350892.1  derlin-1 isoform c

    Status: REVIEWED

    Source sequence(s)
    AA976062, AF131854, AK023846, AY358818, DA823869
    Consensus CDS
    CCDS83319.1
    Related
    ENSP00000429199.1, ENST00000523036.1
    Conserved Domains (1) summary
    cl21536
    Location:1104
    Rhomboid; Rhomboid family
  4. NM_024295.6NP_077271.1  derlin-1 isoform a

    See identical proteins and their annotated locations for NP_077271.1

    Status: REVIEWED

    Source sequence(s)
    AA976062, AF131854, AK023846, AY358818, DA800358
    Consensus CDS
    CCDS6337.1
    UniProtKB/Swiss-Prot
    Q9BUN8
    UniProtKB/TrEMBL
    A0A024R9G3
    Related
    ENSP00000259512.3, ENST00000259512.9
    Conserved Domains (1) summary
    pfam04511
    Location:11204
    DER1; Der1-like family

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

    Range
    123013170..123042302 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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