U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

DERL1 derlin 1 [ Homo sapiens (human) ]

Gene ID: 79139, updated on 7-Sep-2023

Summary

Official Symbol
DERL1provided by HGNC
Official Full Name
derlin 1provided by HGNC
Primary source
HGNC:HGNC:28454
See related
Ensembl:ENSG00000136986 MIM:608813; AllianceGenome:HGNC:28454
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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See DERL1 in Genome Data Viewer
Location:
8q24.13
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2023_03 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (123013170..123042302, complement)
RS_2023_03 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (124144308..124173436, complement)
105.20220307 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 uncharacterized LOC124902012 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:123792337-123792838 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:123792839-123793338 Neighboring gene NANOG hESC enhancer GRCh37_chr8:123795211-123795745 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr8:123799669-123800426 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr8:123809400-123810599 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:123814233-123815192 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:123815193-123816150 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:123817802-123819001 Neighboring gene zinc fingers and homeoboxes 2 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:123848010-123849209 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr8:123849857-123850688 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:123869217-123869717 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:123874507-123875706 Neighboring gene uncharacterized LOC124902011 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr8:123927788-123928344 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:123960147-123960646 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:124000413-124001612 Neighboring gene uncharacterized LOC124902013 Neighboring gene RNY4 pseudogene 5 Neighboring gene Sharpr-MPRA regulatory region 15016 Neighboring gene TBC1 domain family member 31 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

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 
Component Evidence Code Pubs
part_of Derlin-1 retrotranslocation complex IDA
Inferred from Direct Assay
more info
PubMed 
part_of Derlin-1-VIMP complex IDA
Inferred from Direct Assay
more info
PubMed 
part_of Hrd1p ubiquitin ligase ERAD-L complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in early endosome IEA
Inferred from Electronic Annotation
more info
 
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
located_in endoplasmic reticulum IMP
Inferred from Mutant Phenotype
more info
PubMed 
located_in endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
located_in endoplasmic reticulum quality control compartment IEA
Inferred from Electronic Annotation
more info
 
located_in late endosome IEA
Inferred from Electronic Annotation
more info
 
located_in membrane HDA PubMed 
located_in membrane IDA
Inferred from Direct Assay
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)

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.

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
    UniProtKB/TrEMBL
    E5RGY0
    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
    B3KW41, E9PH19, Q9BUN8
    UniProtKB/TrEMBL
    A0A024R9G3
    Related
    ENSP00000259512.3, ENST00000259512.9
    Conserved Domains (1) summary
    pfam04511
    Location:11204
    DER1; Der1-like family

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_03

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    124144308..124173436 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)