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DERL3 derlin 3 [ Homo sapiens (human) ]

Gene ID: 91319, updated on 13-Mar-2020

Summary

Official Symbol
DERL3provided by HGNC
Official Full Name
derlin 3provided by HGNC
Primary source
HGNC:HGNC:14236
See related
Ensembl:ENSG00000099958 MIM:610305
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
IZP6; LLN2; C22orf14; derlin-3
Summary
The protein encoded by this gene belongs to the derlin family, and resides in the endoplasmic reticulum (ER). Proteins that are unfolded or misfolded in the ER must be refolded or degraded to maintain the homeostasis of the ER. This protein appears to be involved in the degradation of misfolded glycoproteins in the ER. Several alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Oct 2008]
Expression
Broad expression in stomach (RPKM 12.2), duodenum (RPKM 11.1) and 22 other tissues See more
Orthologs

Genomic context

See DERL3 in Genome Data Viewer
Location:
22q11.23
Exon count:
8
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (23834498..23839348, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (24176690..24181430, complement)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985577 Neighboring gene matrix metallopeptidase 11 Neighboring gene SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 Neighboring gene skeletal muscle cis-regulatory module in DERL3 and SLC2A11 intergenic region Neighboring gene solute carrier family 2 member 11 Neighboring gene RNA, 7SL, cytoplasmic 268, pseudogene

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
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC71803

Gene Ontology Provided by GOA

Function Evidence Code Pubs
misfolded protein binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
ubiquitin-specific protease binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
endoplasmic reticulum unfolded protein response IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endoplasmic reticulum unfolded protein response IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of retrograde protein transport, ER to cytosol IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein N-linked glycosylation via asparagine IMP
Inferred from Mutant Phenotype
more info
PubMed 
ubiquitin-dependent ERAD pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ubiquitin-dependent ERAD pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
ubiquitin-dependent ERAD pathway NAS
Non-traceable Author Statement
more info
PubMed 
ubiquitin-dependent ERAD pathway TAS
Traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
derlin-3
Names
DERtrin 3
Der1-like domain family, member 3
degradation in endoplasmic reticulum protein 3
der1-like protein 3

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.

mRNA and Protein(s)

  1. NM_001002862.3NP_001002862.1  derlin-3 isoform 2

    See identical proteins and their annotated locations for NP_001002862.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) is alternatively spliced at the 3' end compared to transcript variant 1, resulting in a slightly shorter isoform (2) with a distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AK092582, AL389876, AP000350, BC057830, CA313370
    Consensus CDS
    CCDS33615.1
    UniProtKB/Swiss-Prot
    Q96Q80
    Related
    ENSP00000315303.7, ENST00000318109.11
    Conserved Domains (1) summary
    pfam04511
    Location:13202
    DER1; Der1-like family
  2. NM_001135751.2NP_001129223.1  derlin-3 isoform 1

    See identical proteins and their annotated locations for NP_001129223.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AL389876, AW135031, BC057830, CA313370
    Consensus CDS
    CCDS46672.1
    UniProtKB/Swiss-Prot
    Q96Q80
    Related
    ENSP00000384744.3, ENST00000406855.7
    Conserved Domains (1) summary
    pfam04511
    Location:13202
    DER1; Der1-like family
  3. NM_001363072.2NP_001350001.1  derlin-3 isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) is alternatively spliced at the 3' end compared to transcript variant 1, resulting in a shorter isoform (4) with a distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AP000350, CA313370
    Conserved Domains (1) summary
    pfam04511
    Location:13202
    DER1; Der1-like family
  4. NM_198440.4NP_940842.2  derlin-3 isoform 3

    See identical proteins and their annotated locations for NP_940842.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) contains a long 3' terminal exon that is split into 2 exons in transcript variant 1. This results in early translation termination and a shorter isoform (3) compared to isoform 1.
    Source sequence(s)
    AK092582, AL389876, AP000350, BC057830, CA313370
    Consensus CDS
    CCDS42986.1
    UniProtKB/Swiss-Prot
    Q96Q80
    Related
    ENSP00000419399.1, ENST00000476077.1
    Conserved Domains (1) summary
    pfam04511
    Location:13202
    DER1; Der1-like family

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_000022.11 Reference GRCh38.p13 Primary Assembly

    Range
    23834498..23839348 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017029082.2XP_016884571.1  derlin-3 isoform X6

  2. XM_017029080.2XP_016884569.1  derlin-3 isoform X3

  3. XM_017029079.2XP_016884568.1  derlin-3 isoform X2

  4. XM_017029078.2XP_016884567.1  derlin-3 isoform X1

  5. XM_011530505.3XP_011528807.1  derlin-3 isoform X4

    See identical proteins and their annotated locations for XP_011528807.1

    Conserved Domains (1) summary
    pfam04511
    Location:13201
    DER1; Der1-like family

Reference GRCh38.p13 ALT_REF_LOCI_1

Genomic

  1. NT_187633.1 Reference GRCh38.p13 ALT_REF_LOCI_1

    Range
    70865..75368 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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