UniProtKB - Q92611 (EDEM1_HUMAN)
Protein
ER degradation-enhancing alpha-mannosidase-like protein 1
Gene
EDEM1
Organism
Homo sapiens (Human)
Status
Functioni
Extracts misfolded glycoproteins, but not glycoproteins undergoing productive folding, from the calnexin cycle. It is directly involved in endoplasmic reticulum-associated degradation (ERAD) and targets misfolded glycoproteins for degradation in an N-glycan-independent manner, probably by forming a complex with SEL1L. It has low mannosidase activity, catalyzing mannose trimming from Man8GlcNAc2 to Man7GlcNAc2.4 Publications
GO - Molecular functioni
- calcium ion binding Source: InterPro
- mannosyl-oligosaccharide 1,2-alpha-mannosidase activity Source: ParkinsonsUK-UCL
- misfolded protein binding Source: UniProtKB
GO - Biological processi
- carbohydrate metabolic process Source: InterPro
- IRE1-mediated unfolded protein response Source: Reactome
- mannose trimming involved in glycoprotein ERAD pathway Source: ParkinsonsUK-UCL
- positive regulation of retrograde protein transport, ER to cytosol Source: ParkinsonsUK-UCL
- protein targeting to ER Source: UniProtKB
- trimming of terminal mannose on C branch Source: Ensembl
- ubiquitin-dependent ERAD pathway Source: UniProtKB
- ubiquitin-dependent glycoprotein ERAD pathway Source: ParkinsonsUK-UCL
Keywordsi
Biological process | Unfolded protein response |
Enzyme and pathway databases
PathwayCommonsi | Q92611 |
Reactomei | R-HSA-381038, XBP1(S) activates chaperone genes R-HSA-901032, ER Quality Control Compartment (ERQC) |
Protein family/group databases
CAZyi | GH47, Glycoside Hydrolase Family 47 |
Names & Taxonomyi
Protein namesi | Recommended name: ER degradation-enhancing alpha-mannosidase-like protein 1 |
Gene namesi | Name:EDEM1 Synonyms:EDEM, KIAA0212 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:18967, EDEM1 |
MIMi | 607673, gene |
neXtProti | NX_Q92611 |
VEuPathDBi | HostDB:ENSG00000134109.10 |
Subcellular locationi
Endoplasmic reticulum
- Endoplasmic reticulum membrane 1 Publication; Single-pass type II membrane protein 1 Publication
Endoplasmic reticulum
- endoplasmic reticulum Source: MGI
- endoplasmic reticulum quality control compartment Source: UniProtKB
- integral component of endoplasmic reticulum membrane Source: UniProtKB
Other locations
- aggresome Source: HPA
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 1 – 4 | CytoplasmicSequence analysis | 4 | |
Transmembranei | 5 – 25 | Helical; Signal-anchor for type II membrane proteinSequence analysisAdd BLAST | 21 | |
Topological domaini | 26 – 657 | LumenalSequence analysisAdd BLAST | 632 |
Keywords - Cellular componenti
Endoplasmic reticulum, MembranePathology & Biotechi
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 225 | E → Q: Normal affinity for misfolded glycoproteins, but impaired SEL1L binding. 1 Publication | 1 | |
Mutagenesisi | 370 | D → N: Normal affinity for misfolded glycoproteins, but impaired SEL1L binding. 1 Publication | 1 | |
Mutagenesisi | 493 | E → Q: Normal affinity for misfolded glycoproteins, but impaired SEL1L binding. 1 Publication | 1 |
Organism-specific databases
DisGeNETi | 9695 |
OpenTargetsi | ENSG00000134109 |
PharmGKBi | PA128394554 |
Miscellaneous databases
Pharosi | Q92611, Tbio |
Genetic variation databases
BioMutai | EDEM1 |
DMDMi | 17368550 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000210321 | 1 – 657 | ER degradation-enhancing alpha-mannosidase-like protein 1Add BLAST | 657 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Glycosylationi | 181 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 198 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 299 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 342 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 624 | N-linked (GlcNAc...) asparagineSequence analysis | 1 |
Keywords - PTMi
GlycoproteinProteomic databases
EPDi | Q92611 |
jPOSTi | Q92611 |
MassIVEi | Q92611 |
MaxQBi | Q92611 |
PaxDbi | Q92611 |
PeptideAtlasi | Q92611 |
PRIDEi | Q92611 |
ProteomicsDBi | 5457 75356 [Q92611-1] |
PTM databases
GlyGeni | Q92611, 7 sites |
iPTMneti | Q92611 |
PhosphoSitePlusi | Q92611 |
Expressioni
Gene expression databases
Bgeei | ENSG00000134109, Expressed in thymus and 219 other tissues |
ExpressionAtlasi | Q92611, baseline and differential |
Genevisiblei | Q92611, HS |
Organism-specific databases
HPAi | ENSG00000134109, Tissue enhanced (liver, lymphoid tissue) |
Interactioni
Subunit structurei
Interacts with DNAJC10 (By similarity).
Interacts with DERL2 and DERL3. Binds to SEL1L.
By similarity2 PublicationsGO - Molecular functioni
- misfolded protein binding Source: UniProtKB
Protein-protein interaction databases
BioGRIDi | 115047, 40 interactors |
IntActi | Q92611, 20 interactors |
MINTi | Q92611 |
STRINGi | 9606.ENSP00000256497 |
Miscellaneous databases
RNActi | Q92611, protein |
Family & Domainsi
Sequence similaritiesi
Belongs to the glycosyl hydrolase 47 family.Curated
Keywords - Domaini
Signal-anchor, Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG2429, Eukaryota |
GeneTreei | ENSGT00940000157717 |
HOGENOMi | CLU_003818_5_6_1 |
InParanoidi | Q92611 |
OMAi | NWTFVKD |
PhylomeDBi | Q92611 |
TreeFami | TF300807 |
Family and domain databases
Gene3Di | 1.50.10.10, 1 hit |
InterProi | View protein in InterPro IPR012341, 6hp_glycosidase-like_sf IPR001382, Glyco_hydro_47 IPR036026, Seven-hairpin_glycosidases |
Pfami | View protein in Pfam PF01532, Glyco_hydro_47, 1 hit |
PRINTSi | PR00747, GLYHDRLASE47 |
SUPFAMi | SSF48225, SSF48225, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: Q92611-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MQWRALVLGL VLLRLGLHGV LWLVFGLGPS MGFYQRFPLS FGFQRLRSPD
60 70 80 90 100
GPASPTSGPV GRPGGVSGPS WLQPPGTGAA QSPRKAPRRP GPGMCGPANW
110 120 130 140 150
GYVLGGRGRG PDEYEKRYSG AFPPQLRAQM RDLARGMFVF GYDNYMAHAF
160 170 180 190 200
PQDELNPIHC RGRGPDRGDP SNLNINDVLG NYSLTLVDAL DTLAIMGNSS
210 220 230 240 250
EFQKAVKLVI NTVSFDKDST VQVFEATIRV LGSLLSAHRI ITDSKQPFGD
260 270 280 290 300
MTIKDYDNEL LYMAHDLAVR LLPAFENTKT GIPYPRVNLK TGVPPDTNNE
310 320 330 340 350
TCTAGAGSLL VEFGILSRLL GDSTFEWVAR RAVKALWNLR SNDTGLLGNV
360 370 380 390 400
VNIQTGHWVG KQSGLGAGLD SFYEYLLKSY ILFGEKEDLE MFNAAYQSIQ
410 420 430 440 450
NYLRRGREAC NEGEGDPPLY VNVNMFSGQL MNTWIDSLQA FFPGLQVLIG
460 470 480 490 500
DVEDAICLHA FYYAIWKRYG ALPERYNWQL QAPDVLFYPL RPELVESTYL
510 520 530 540 550
LYQATKNPFY LHVGMDILQS LEKYTKVKCG YATLHHVIDK STEDRMESFF
560 570 580 590 600
LSETCKYLYL LFDEDNPVHK SGTRYMFTTE GHIVSVDEHL RELPWKEFFS
610 620 630 640 650
EEGGQDQGGK SVHRPKPHEL KVINSSSNCN RVPDERRYSL PLKSIYMRQI
DQMVGLI
Computationally mapped potential isoform sequencesi
There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketF8WER9 | F8WER9_HUMAN | alpha-1,2-Mannosidase | EDEM1 | 78 | Annotation score: | ||
F8WE67 | F8WE67_HUMAN | ER degradation-enhancing alpha-mann... | EDEM1 | 53 | Annotation score: |
Sequence cautioni
The sequence BAA13203 differs from that shown. Reason: Erroneous initiation.Curated
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_056703 | 1 – 195 | Missing in isoform 2. 1 PublicationAdd BLAST | 195 | |
Alternative sequenceiVSP_056704 | 561 – 657 | LFDED…MVGLI → VCVLQDEPRNI in isoform 2. 1 PublicationAdd BLAST | 97 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | D86967 mRNA Translation: BAA13203.2 Different initiation. AK292643 mRNA Translation: BAF85332.1 AK302065 mRNA Translation: BAG63455.1 AC026202 Genomic DNA No translation available. CH471055 Genomic DNA Translation: EAW63925.1 BC019088 mRNA Translation: AAH19088.1 |
CCDSi | CCDS33686.1 [Q92611-1] |
RefSeqi | NP_055489.1, NM_014674.2 [Q92611-1] |
Genome annotation databases
Ensembli | ENST00000256497; ENSP00000256497; ENSG00000134109 [Q92611-1] ENST00000445686; ENSP00000394099; ENSG00000134109 [Q92611-2] |
GeneIDi | 9695 |
KEGGi | hsa:9695 |
UCSCi | uc003bqi.4, human [Q92611-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | D86967 mRNA Translation: BAA13203.2 Different initiation. AK292643 mRNA Translation: BAF85332.1 AK302065 mRNA Translation: BAG63455.1 AC026202 Genomic DNA No translation available. CH471055 Genomic DNA Translation: EAW63925.1 BC019088 mRNA Translation: AAH19088.1 |
CCDSi | CCDS33686.1 [Q92611-1] |
RefSeqi | NP_055489.1, NM_014674.2 [Q92611-1] |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 115047, 40 interactors |
IntActi | Q92611, 20 interactors |
MINTi | Q92611 |
STRINGi | 9606.ENSP00000256497 |
Protein family/group databases
CAZyi | GH47, Glycoside Hydrolase Family 47 |
PTM databases
GlyGeni | Q92611, 7 sites |
iPTMneti | Q92611 |
PhosphoSitePlusi | Q92611 |
Genetic variation databases
BioMutai | EDEM1 |
DMDMi | 17368550 |
Proteomic databases
EPDi | Q92611 |
jPOSTi | Q92611 |
MassIVEi | Q92611 |
MaxQBi | Q92611 |
PaxDbi | Q92611 |
PeptideAtlasi | Q92611 |
PRIDEi | Q92611 |
ProteomicsDBi | 5457 75356 [Q92611-1] |
Protocols and materials databases
Antibodypediai | 25261, 93 antibodies |
DNASUi | 9695 |
Genome annotation databases
Ensembli | ENST00000256497; ENSP00000256497; ENSG00000134109 [Q92611-1] ENST00000445686; ENSP00000394099; ENSG00000134109 [Q92611-2] |
GeneIDi | 9695 |
KEGGi | hsa:9695 |
UCSCi | uc003bqi.4, human [Q92611-1] |
Organism-specific databases
CTDi | 9695 |
DisGeNETi | 9695 |
GeneCardsi | EDEM1 |
HGNCi | HGNC:18967, EDEM1 |
HPAi | ENSG00000134109, Tissue enhanced (liver, lymphoid tissue) |
MIMi | 607673, gene |
neXtProti | NX_Q92611 |
OpenTargetsi | ENSG00000134109 |
PharmGKBi | PA128394554 |
VEuPathDBi | HostDB:ENSG00000134109.10 |
HUGEi | Search... |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG2429, Eukaryota |
GeneTreei | ENSGT00940000157717 |
HOGENOMi | CLU_003818_5_6_1 |
InParanoidi | Q92611 |
OMAi | NWTFVKD |
PhylomeDBi | Q92611 |
TreeFami | TF300807 |
Enzyme and pathway databases
PathwayCommonsi | Q92611 |
Reactomei | R-HSA-381038, XBP1(S) activates chaperone genes R-HSA-901032, ER Quality Control Compartment (ERQC) |
Miscellaneous databases
BioGRID-ORCSi | 9695, 6 hits in 877 CRISPR screens |
ChiTaRSi | EDEM1, human |
GeneWikii | EDEM1 |
GenomeRNAii | 9695 |
Pharosi | Q92611, Tbio |
PROi | PR:Q92611 |
RNActi | Q92611, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000134109, Expressed in thymus and 219 other tissues |
ExpressionAtlasi | Q92611, baseline and differential |
Genevisiblei | Q92611, HS |
Family and domain databases
Gene3Di | 1.50.10.10, 1 hit |
InterProi | View protein in InterPro IPR012341, 6hp_glycosidase-like_sf IPR001382, Glyco_hydro_47 IPR036026, Seven-hairpin_glycosidases |
Pfami | View protein in Pfam PF01532, Glyco_hydro_47, 1 hit |
PRINTSi | PR00747, GLYHDRLASE47 |
SUPFAMi | SSF48225, SSF48225, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | EDEM1_HUMAN | |
Accessioni | Q92611Primary (citable) accession number: Q92611 Secondary accession number(s): A8K9C8, B4DXP3 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | November 16, 2001 |
Last sequence update: | February 1, 1997 | |
Last modified: | February 10, 2021 | |
This is version 181 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families - Human chromosome 3
Human chromosome 3: entries, gene names and cross-references to MIM - Glycosyl hydrolases
Classification of glycosyl hydrolase families and list of entries