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Protein

Derlin-3

Gene

DERL3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Functional component of endoplasmic reticulum-associated degradation (ERAD) for misfolded lumenal glycoproteins, but not that of misfolded nonglycoproteins. May act by forming a channel that allows the retrotranslocation of misfolded glycoproteins into the cytosol where they are ubiquitinated and degraded by the proteasome. May mediate the interaction between VCP and the misfolded glycoproteins (PubMed:16449189, PubMed:22607976). May be involved in endoplasmic reticulum stress-induced pre-emptive quality control, a mechanism that selectively attenuates the translocation of newly synthesized proteins into the endoplasmic reticulum and reroutes them to the cytosol for proteasomal degradation (PubMed:26565908).3 Publications

GO - Biological processi

  • endoplasmic reticulum unfolded protein response Source: UniProtKB
  • negative regulation of retrograde protein transport, ER to cytosol Source: ParkinsonsUK-UCL
  • protein N-linked glycosylation via asparagine Source: UniProtKB
  • ubiquitin-dependent ERAD pathway Source: UniProtKB

Enzyme and pathway databases

ReactomeiR-HSA-382556 ABC-family proteins mediated transport
R-HSA-5678895 Defective CFTR causes cystic fibrosis

Protein family/group databases

TCDBi3.A.16.1.4 the endoplasmic reticular retrotranslocon (er-rt) family

Names & Taxonomyi

Protein namesi
Recommended name:
Derlin-31 Publication
Alternative name(s):
Degradation in endoplasmic reticulum protein 3
Short name:
DERtrin-3
Der1-like protein 31 Publication
Gene namesi
Name:DERL3Imported
Synonyms:C22orf14Imported, DER3, LLN2Imported
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 22

Organism-specific databases

EuPathDBiHostDB:ENSG00000099958.14
HGNCiHGNC:14236 DERL3
MIMi610305 gene
neXtProtiNX_Q96Q80

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 22CytoplasmicSequence analysisAdd BLAST22
Transmembranei23 – 43Helical; Name=1Sequence analysisAdd BLAST21
Topological domaini44 – 58LumenalSequence analysisAdd BLAST15
Transmembranei59 – 79Helical; Name=2Sequence analysisAdd BLAST21
Topological domaini80 – 98CytoplasmicSequence analysisAdd BLAST19
Transmembranei99 – 119Helical; Name=3Sequence analysisAdd BLAST21
Topological domaini120 – 157LumenalSequence analysisAdd BLAST38
Transmembranei158 – 178Helical; Name=4Sequence analysisAdd BLAST21
Topological domaini179 – 235CytoplasmicSequence analysisAdd BLAST57

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi91319
OpenTargetsiENSG00000099958
PharmGKBiPA25883

Polymorphism and mutation databases

BioMutaiDERL3
DMDMi50400613

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002190481 – 235Derlin-3Add BLAST235

Proteomic databases

MaxQBiQ96Q80
PeptideAtlasiQ96Q80
PRIDEiQ96Q80
ProteomicsDBi77832
77833 [Q96Q80-2]
77834 [Q96Q80-3]
77835 [Q96Q80-4]

Expressioni

Tissue specificityi

Unlike DERL1 and DERL2, restricted to several tissues. Expressed at high levels in placenta, pancreas, spleen and small intestine.1 Publication

Inductioni

Up-regulated in response to endoplasmic reticulum stress via the ERN1-XBP1 pathway of the unfolded protein response (UPR).1 Publication

Gene expression databases

BgeeiENSG00000099958 Expressed in 171 organ(s), highest expression level in lymph node
CleanExiHS_DERL3
ExpressionAtlasiQ96Q80 baseline and differential
GenevisibleiQ96Q80 HS

Organism-specific databases

HPAiCAB037234
HPA049306

Interactioni

Subunit structurei

Forms homo- and heterooligomers with DERL2 and, to a lesser extent, with DERL1 (PubMed:16449189). Interacts with VCP and EDEM1 (PubMed:16449189). Interacts with SELENOK and SELENOS (PubMed:22016385). Interacts with the signal recognition particle/SRP and the SRP receptor; in the process of endoplasmic reticulum stress-induced pre-emptive quality control (PubMed:26565908).3 Publications

Protein-protein interaction databases

BioGridi124816, 6 interactors
IntActiQ96Q80, 11 interactors

Structurei

3D structure databases

ProteinModelPortaliQ96Q80
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the derlin family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

GeneTreeiENSGT00530000063156
HOGENOMiHOG000200948
HOVERGENiHBG051338
InParanoidiQ96Q80
KOiK13989
OMAiNEENQIE
OrthoDBiEOG091G0IPJ
PhylomeDBiQ96Q80
TreeFamiTF314715

Family and domain databases

InterProiView protein in InterPro
IPR007599 DER1
PANTHERiPTHR11009 PTHR11009, 1 hit
PfamiView protein in Pfam
PF04511 DER1, 1 hit

Sequences (5+)i

Sequence statusi: Complete.

This entry describes 5 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 5 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: Q96Q80-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MAWQGLAAEF LQVPAVTRAY TAACVLTTAA VQLELLSPFQ LYFNPHLVFR
60 70 80 90 100
KFQVWRLVTN FLFFGPLGFS FFFNMLFVFR YCRMLEEGSF RGRTADFVFM
110 120 130 140 150
FLFGGVLMTL LGLLGSLFFL GQALMAMLVY VWSRRSPRVR VNFFGLLTFQ
160 170 180 190 200
APFLPWALMG FSLLLGNSIL VDLLGIAVGH IYYFLEDVFP NQPGGKRLLQ
210 220 230
TPGFLKLLLD APAEDPNYLP LPEEQPGPHL PPPQQ
Length:235
Mass (Da):26,679
Last modified:July 19, 2004 - v2
Checksum:i2DC5F02487C4B824
GO
Isoform 2 (identifier: Q96Q80-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     206-235: KLLLDAPAEDPNYLPLPEEQPGPHLPPPQQ → GLQSSKAPAGSSLTIWTQQSQGGPGTAGELAAPS

Note: No experimental confirmation available.
Show »
Length:239
Mass (Da):26,605
Checksum:i7297772E29193957
GO
Isoform 3 (identifier: Q96Q80-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     206-235: KLLLDAPAEDPNYLPLPEEQPGPHLPPPQQ → LATAQQCPHRTGPSAGDFRAARPQLAVA

Note: No experimental confirmation available.
Show »
Length:233
Mass (Da):26,255
Checksum:i98A860411ED2C73B
GO
Isoform 4 (identifier: Q96Q80-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-74: Missing.
     110-205: LLGLLGSLFF...KRLLQTPGFL → VSFPQALEPR...LCSTRAPPHR

Note: No experimental confirmation available.
Show »
Length:225
Mass (Da):23,859
Checksum:i30576E135EC94D48
GO
Isoform 5 (identifier: Q96Q80-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     206-235: Missing.

Note: No experimental confirmation available.
Show »
Length:205
Mass (Da):23,382
Checksum:iE125D7D2EDBB8031
GO

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E7EVA4E7EVA4_HUMAN
Derlin
DERL3
178Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_048897149F → L1 PublicationCorresponds to variant dbSNP:rs3177243Ensembl.1
Natural variantiVAR_019517211A → V1 PublicationCorresponds to variant dbSNP:rs1128127Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0110861 – 74Missing in isoform 4. 1 PublicationAdd BLAST74
Alternative sequenceiVSP_011087110 – 205LLGLL…TPGFL → VSFPQALEPRARAPRRPACV GPGANTAMPERDTVAVSSLV CVEGPLCAQLQGSGLDLQCC MQNTKPRTKEPGTVPALGAH GLLAAAGQLHPRGPAGDCGG PYLLLPGGRLPQPAWRQEAP ADPWLPVSVESPPSLSPPSE GSPPMGTCAGLCSTRAPPHR in isoform 4. 1 PublicationAdd BLAST96
Alternative sequenceiVSP_011088206 – 235KLLLD…PPPQQ → GLQSSKAPAGSSLTIWTQQS QGGPGTAGELAAPS in isoform 2. 1 PublicationAdd BLAST30
Alternative sequenceiVSP_011089206 – 235KLLLD…PPPQQ → LATAQQCPHRTGPSAGDFRA ARPQLAVA in isoform 3. CuratedAdd BLAST30
Alternative sequenceiVSP_046330206 – 235Missing in isoform 5. 1 PublicationAdd BLAST30

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB049213 Genomic DNA Translation: BAB68409.1
AL389876 mRNA No translation available.
AK125830 mRNA Translation: BAC86311.1
CR456372 mRNA Translation: CAG30258.1
AP000350 Genomic DNA No translation available.
BC057830 mRNA Translation: AAH57830.1
CCDSiCCDS33615.1 [Q96Q80-1]
CCDS42986.1 [Q96Q80-5]
CCDS46672.1 [Q96Q80-2]
RefSeqiNP_001002862.1, NM_001002862.2 [Q96Q80-1]
NP_001129223.1, NM_001135751.1 [Q96Q80-2]
NP_940842.2, NM_198440.3 [Q96Q80-5]
XP_011528808.1, XM_011530506.2
UniGeneiHs.593679

Genome annotation databases

EnsembliENST00000318109; ENSP00000315303; ENSG00000099958 [Q96Q80-1]
ENST00000406855; ENSP00000384744; ENSG00000099958 [Q96Q80-2]
ENST00000476077; ENSP00000419399; ENSG00000099958 [Q96Q80-5]
ENST00000620697; ENSP00000483693; ENSG00000274437 [Q96Q80-2]
ENST00000628868; ENSP00000485763; ENSG00000274437 [Q96Q80-5]
ENST00000631305; ENSP00000486587; ENSG00000274437 [Q96Q80-1]
GeneIDi91319
KEGGihsa:91319
UCSCiuc002zyh.4 human [Q96Q80-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB049213 Genomic DNA Translation: BAB68409.1
AL389876 mRNA No translation available.
AK125830 mRNA Translation: BAC86311.1
CR456372 mRNA Translation: CAG30258.1
AP000350 Genomic DNA No translation available.
BC057830 mRNA Translation: AAH57830.1
CCDSiCCDS33615.1 [Q96Q80-1]
CCDS42986.1 [Q96Q80-5]
CCDS46672.1 [Q96Q80-2]
RefSeqiNP_001002862.1, NM_001002862.2 [Q96Q80-1]
NP_001129223.1, NM_001135751.1 [Q96Q80-2]
NP_940842.2, NM_198440.3 [Q96Q80-5]
XP_011528808.1, XM_011530506.2
UniGeneiHs.593679

3D structure databases

ProteinModelPortaliQ96Q80
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi124816, 6 interactors
IntActiQ96Q80, 11 interactors

Protein family/group databases

TCDBi3.A.16.1.4 the endoplasmic reticular retrotranslocon (er-rt) family

Polymorphism and mutation databases

BioMutaiDERL3
DMDMi50400613

Proteomic databases

MaxQBiQ96Q80
PeptideAtlasiQ96Q80
PRIDEiQ96Q80
ProteomicsDBi77832
77833 [Q96Q80-2]
77834 [Q96Q80-3]
77835 [Q96Q80-4]

Protocols and materials databases

DNASUi91319
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000318109; ENSP00000315303; ENSG00000099958 [Q96Q80-1]
ENST00000406855; ENSP00000384744; ENSG00000099958 [Q96Q80-2]
ENST00000476077; ENSP00000419399; ENSG00000099958 [Q96Q80-5]
ENST00000620697; ENSP00000483693; ENSG00000274437 [Q96Q80-2]
ENST00000628868; ENSP00000485763; ENSG00000274437 [Q96Q80-5]
ENST00000631305; ENSP00000486587; ENSG00000274437 [Q96Q80-1]
GeneIDi91319
KEGGihsa:91319
UCSCiuc002zyh.4 human [Q96Q80-1]

Organism-specific databases

CTDi91319
DisGeNETi91319
EuPathDBiHostDB:ENSG00000099958.14
GeneCardsiDERL3
HGNCiHGNC:14236 DERL3
HPAiCAB037234
HPA049306
MIMi610305 gene
neXtProtiNX_Q96Q80
OpenTargetsiENSG00000099958
PharmGKBiPA25883
GenAtlasiSearch...

Phylogenomic databases

GeneTreeiENSGT00530000063156
HOGENOMiHOG000200948
HOVERGENiHBG051338
InParanoidiQ96Q80
KOiK13989
OMAiNEENQIE
OrthoDBiEOG091G0IPJ
PhylomeDBiQ96Q80
TreeFamiTF314715

Enzyme and pathway databases

ReactomeiR-HSA-382556 ABC-family proteins mediated transport
R-HSA-5678895 Defective CFTR causes cystic fibrosis

Miscellaneous databases

GeneWikiiDerlin-3
GenomeRNAii91319
PROiPR:Q96Q80
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000099958 Expressed in 171 organ(s), highest expression level in lymph node
CleanExiHS_DERL3
ExpressionAtlasiQ96Q80 baseline and differential
GenevisibleiQ96Q80 HS

Family and domain databases

InterProiView protein in InterPro
IPR007599 DER1
PANTHERiPTHR11009 PTHR11009, 1 hit
PfamiView protein in Pfam
PF04511 DER1, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiDERL3_HUMAN
AccessioniPrimary (citable) accession number: Q96Q80
Secondary accession number(s): F2Z3B6
, Q6ICJ6, Q6PEX0, Q6ZUB5
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 19, 2004
Last sequence update: July 19, 2004
Last modified: November 7, 2018
This is version 130 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 22
    Human chromosome 22: entries, gene names and cross-references to MIM
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