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Protein

ER degradation-enhancing alpha-mannosidase-like protein 2

Gene

EDEM2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Initiates the endoplasmic reticulum-associated degradation (ERAD) that targets misfolded glycoproteins for degradation in an N-glycan-dependent manner. Catalyzes the first mannose trimming step, from Man9GlcNAc2 to Man8GlcNAc2 (PubMed:25092655). Extracts misfolded glycoproteins, but not glycoproteins undergoing productive folding, from the calnexin cycle.3 Publications

GO - Molecular functioni

  • alpha-mannosidase activity Source: Reactome
  • calcium ion binding Source: InterPro
  • glycoprotein binding Source: Ensembl
  • mannosyl-oligosaccharide 1,2-alpha-mannosidase activity Source: ParkinsonsUK-UCL

GO - Biological processi

  • endoplasmic reticulum mannose trimming Source: Reactome
  • endoplasmic reticulum unfolded protein response Source: GO_Central
  • ER-associated ubiquitin-dependent protein catabolic process Source: GO_Central
  • glycoprotein ERAD pathway Source: ParkinsonsUK-UCL
  • mannose trimming involved in glycoprotein ERAD pathway Source: ParkinsonsUK-UCL
  • N-glycan processing Source: GO_Central
  • positive regulation of retrograde protein transport, ER to cytosol Source: ParkinsonsUK-UCL
  • trimming of terminal mannose on B branch Source: ParkinsonsUK-UCL
Complete GO annotation...

Keywords - Biological processi

Unfolded protein response

Enzyme and pathway databases

BioCyciZFISH:ENSG00000088298-MONOMER.
ReactomeiR-HSA-901032. ER Quality Control Compartment (ERQC).

Protein family/group databases

CAZyiGH47. Glycoside Hydrolase Family 47.

Names & Taxonomyi

Protein namesi
Recommended name:
ER degradation-enhancing alpha-mannosidase-like protein 2
Gene namesi
Name:EDEM2
Synonyms:C20orf31, C20orf49
ORF Names:UNQ573/PRO1135
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 20

Organism-specific databases

HGNCiHGNC:15877. EDEM2.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum

Pathology & Biotechi

Organism-specific databases

DisGeNETi55741.
OpenTargetsiENSG00000088298.
PharmGKBiPA25747.

Polymorphism and mutation databases

BioMutaiEDEM2.
DMDMi17368685.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 21Sequence analysisAdd BLAST21
ChainiPRO_000001208622 – 578ER degradation-enhancing alpha-mannosidase-like protein 2Add BLAST557

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi90N-linked (GlcNAc...)Sequence analysis1
Glycosylationi112N-linked (GlcNAc...)Sequence analysis1
Glycosylationi289N-linked (GlcNAc...)Sequence analysis1
Glycosylationi450N-linked (GlcNAc...)Sequence analysis1

Post-translational modificationi

Glycosylated.1 Publication

Keywords - PTMi

Glycoprotein

Proteomic databases

EPDiQ9BV94.
MaxQBiQ9BV94.
PaxDbiQ9BV94.
PeptideAtlasiQ9BV94.
PRIDEiQ9BV94.

PTM databases

iPTMnetiQ9BV94.
PhosphoSitePlusiQ9BV94.

Expressioni

Tissue specificityi

Expressed ubiquitously in all tissues tested with slightly higher levels detected in small intestine and peripheral blood leukocytes and weakest levels in brain and skeletal muscle.1 Publication

Inductioni

Up-regulated by the unfolded protein response (UPR) via the XBP1 transcription factor.1 Publication

Gene expression databases

BgeeiENSG00000088298.
CleanExiHS_EDEM2.
GenevisibleiQ9BV94. HS.

Organism-specific databases

HPAiCAB037238.
HPA048353.

Interactioni

Protein-protein interaction databases

BioGridi120859. 46 interactors.
IntActiQ9BV94. 1 interactor.
MINTiMINT-1379444.
STRINGi9606.ENSP00000363616.

Structurei

3D structure databases

ProteinModelPortaliQ9BV94.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the glycosyl hydrolase 47 family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiKOG2429. Eukaryota.
ENOG410XS6F. LUCA.
GeneTreeiENSGT00530000063069.
HOVERGENiHBG051158.
InParanoidiQ9BV94.
KOiK10085.
OMAiKELMSMF.
OrthoDBiEOG091G04YS.
PhylomeDBiQ9BV94.
TreeFamiTF300807.

Family and domain databases

Gene3Di1.50.10.50. 1 hit.
InterProiIPR001382. Glyco_hydro_47.
[Graphical view]
PfamiPF01532. Glyco_hydro_47. 1 hit.
[Graphical view]
PRINTSiPR00747. GLYHDRLASE47.
SUPFAMiSSF48225. SSF48225. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9BV94-1) [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
MPFRLLIPLG LLCALLPQHH GAPGPDGSAP DPAHYRERVK AMFYHAYDSY
60 70 80 90 100
LENAFPFDEL RPLTCDGHDT WGSFSLTLID ALDTLLILGN VSEFQRVVEV
110 120 130 140 150
LQDSVDFDID VNASVFETNI RVVGGLLSAH LLSKKAGVEV EAGWPCSGPL
160 170 180 190 200
LRMAEEAARK LLPAFQTPTG MPYGTVNLLH GVNPGETPVT CTAGIGTFIV
210 220 230 240 250
EFATLSSLTG DPVFEDVARV ALMRLWESRS DIGLVGNHID VLTGKWVAQD
260 270 280 290 300
AGIGAGVDSY FEYLVKGAIL LQDKKLMAMF LEYNKAIRNY TRFDDWYLWV
310 320 330 340 350
QMYKGTVSMP VFQSLEAYWP GLQSLIGDID NAMRTFLNYY TVWKQFGGLP
360 370 380 390 400
EFYNIPQGYT VEKREGYPLR PELIESAMYL YRATGDPTLL ELGRDAVESI
410 420 430 440 450
EKISKVECGF ATIKDLRDHK LDNRMESFFL AETVKYLYLL FDPTNFIHNN
460 470 480 490 500
GSTFDAVITP YGECILGAGG YIFNTEAHPI DPAALHCCQR LKEEQWEVED
510 520 530 540 550
LMREFYSLKR SRSKFQKNTV SSGPWEPPAR PGTLFSPENH DQARERKPAK
560 570
QKVPLLSCPS QPFTSKLALL GQVFLDSS
Length:578
Mass (Da):64,753
Last modified:November 16, 2001 - v2
Checksum:iEEEADA069C159759
GO
Isoform 2 (identifier: Q9BV94-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     36-72: Missing.

Show »
Length:541
Mass (Da):60,319
Checksum:iD85677AE92855D34
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti482P → L in AAQ88943 (PubMed:12975309).Curated1
Sequence conflicti511S → C in BAA91806 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_012165456A → T.1 PublicationCorresponds to variant rs3746429dbSNPEnsembl.1
Natural variantiVAR_055842510R → Q.Corresponds to variant rs6060248dbSNPEnsembl.1
Natural variantiVAR_055843556L → F.Corresponds to variant rs1052056dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_01318336 – 72Missing in isoform 2. 2 PublicationsAdd BLAST37

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK001645 mRNA. Translation: BAA91806.1.
AK023931 mRNA. Translation: BAB14731.1.
AK300212 mRNA. Translation: BAG61981.1.
AY358580 mRNA. Translation: AAQ88943.1.
CR457266 mRNA. Translation: CAG33547.1.
AL135844, AL356652 Genomic DNA. Translation: CAI19292.1.
AL356652, AL135844 Genomic DNA. Translation: CAH73763.1.
CH471077 Genomic DNA. Translation: EAW76228.1.
BC001371 mRNA. Translation: AAH01371.1.
BC016184 mRNA. Translation: AAH16184.1.
CCDSiCCDS13247.1. [Q9BV94-1]
CCDS46592.1. [Q9BV94-2]
RefSeqiNP_001138497.1. NM_001145025.1. [Q9BV94-2]
NP_060687.2. NM_018217.2. [Q9BV94-1]
UniGeneiHs.720177.

Genome annotation databases

EnsembliENST00000374491; ENSP00000363615; ENSG00000088298. [Q9BV94-2]
ENST00000374492; ENSP00000363616; ENSG00000088298. [Q9BV94-1]
GeneIDi55741.
KEGGihsa:55741.
UCSCiuc002xbo.3. human. [Q9BV94-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK001645 mRNA. Translation: BAA91806.1.
AK023931 mRNA. Translation: BAB14731.1.
AK300212 mRNA. Translation: BAG61981.1.
AY358580 mRNA. Translation: AAQ88943.1.
CR457266 mRNA. Translation: CAG33547.1.
AL135844, AL356652 Genomic DNA. Translation: CAI19292.1.
AL356652, AL135844 Genomic DNA. Translation: CAH73763.1.
CH471077 Genomic DNA. Translation: EAW76228.1.
BC001371 mRNA. Translation: AAH01371.1.
BC016184 mRNA. Translation: AAH16184.1.
CCDSiCCDS13247.1. [Q9BV94-1]
CCDS46592.1. [Q9BV94-2]
RefSeqiNP_001138497.1. NM_001145025.1. [Q9BV94-2]
NP_060687.2. NM_018217.2. [Q9BV94-1]
UniGeneiHs.720177.

3D structure databases

ProteinModelPortaliQ9BV94.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120859. 46 interactors.
IntActiQ9BV94. 1 interactor.
MINTiMINT-1379444.
STRINGi9606.ENSP00000363616.

Protein family/group databases

CAZyiGH47. Glycoside Hydrolase Family 47.

PTM databases

iPTMnetiQ9BV94.
PhosphoSitePlusiQ9BV94.

Polymorphism and mutation databases

BioMutaiEDEM2.
DMDMi17368685.

Proteomic databases

EPDiQ9BV94.
MaxQBiQ9BV94.
PaxDbiQ9BV94.
PeptideAtlasiQ9BV94.
PRIDEiQ9BV94.

Protocols and materials databases

DNASUi55741.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000374491; ENSP00000363615; ENSG00000088298. [Q9BV94-2]
ENST00000374492; ENSP00000363616; ENSG00000088298. [Q9BV94-1]
GeneIDi55741.
KEGGihsa:55741.
UCSCiuc002xbo.3. human. [Q9BV94-1]

Organism-specific databases

CTDi55741.
DisGeNETi55741.
GeneCardsiEDEM2.
HGNCiHGNC:15877. EDEM2.
HPAiCAB037238.
HPA048353.
MIMi610302. gene.
neXtProtiNX_Q9BV94.
OpenTargetsiENSG00000088298.
PharmGKBiPA25747.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2429. Eukaryota.
ENOG410XS6F. LUCA.
GeneTreeiENSGT00530000063069.
HOVERGENiHBG051158.
InParanoidiQ9BV94.
KOiK10085.
OMAiKELMSMF.
OrthoDBiEOG091G04YS.
PhylomeDBiQ9BV94.
TreeFamiTF300807.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000088298-MONOMER.
ReactomeiR-HSA-901032. ER Quality Control Compartment (ERQC).

Miscellaneous databases

ChiTaRSiEDEM2. human.
GeneWikiiEDEM2.
GenomeRNAii55741.
PROiQ9BV94.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000088298.
CleanExiHS_EDEM2.
GenevisibleiQ9BV94. HS.

Family and domain databases

Gene3Di1.50.10.50. 1 hit.
InterProiIPR001382. Glyco_hydro_47.
[Graphical view]
PfamiPF01532. Glyco_hydro_47. 1 hit.
[Graphical view]
PRINTSiPR00747. GLYHDRLASE47.
SUPFAMiSSF48225. SSF48225. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiEDEM2_HUMAN
AccessioniPrimary (citable) accession number: Q9BV94
Secondary accession number(s): B4DTG9
, Q6GU33, Q6IA89, Q6UWZ4, Q9H4U0, Q9H886, Q9NTL9, Q9NVE6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 16, 2001
Last sequence update: November 16, 2001
Last modified: November 2, 2016
This is version 145 of the entry and version 2 of the sequence. [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. Glycosyl hydrolases
    Classification of glycosyl hydrolase families and list of entries
  2. Human chromosome 20
    Human chromosome 20: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.