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Protein

ER degradation-enhancing alpha-mannosidase-like protein 1

Gene

EDEM1

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

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

  • IRE1-mediated unfolded protein response Source: Reactome
  • 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 C branch Source: Ensembl
  • ubiquitin-dependent ERAD pathway Source: UniProtKB
  • ubiquitin-dependent glycoprotein ERAD pathway Source: ParkinsonsUK-UCL

Keywordsi

Biological processUnfolded protein response

Enzyme and pathway databases

ReactomeiR-HSA-381038 XBP1(S) activates chaperone genes
R-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 1
Gene namesi
Name:EDEM1
Synonyms:EDEM, KIAA0212
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

EuPathDBiHostDB:ENSG00000134109.10
HGNCiHGNC:18967 EDEM1
MIMi607673 gene
neXtProtiNX_Q92611

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 – 4CytoplasmicSequence analysis4
Transmembranei5 – 25Helical; Signal-anchor for type II membrane proteinSequence analysisAdd BLAST21
Topological domaini26 – 657LumenalSequence analysisAdd BLAST632

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi225E → Q: Normal affinity for misfolded glycoproteins, but impaired SEL1L binding. 1 Publication1
Mutagenesisi370D → N: Normal affinity for misfolded glycoproteins, but impaired SEL1L binding. 1 Publication1
Mutagenesisi493E → Q: Normal affinity for misfolded glycoproteins, but impaired SEL1L binding. 1 Publication1

Organism-specific databases

DisGeNETi9695
OpenTargetsiENSG00000134109
PharmGKBiPA128394554

Polymorphism and mutation databases

BioMutaiEDEM1
DMDMi17368550

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002103211 – 657ER degradation-enhancing alpha-mannosidase-like protein 1Add BLAST657

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi181N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi198N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi299N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi342N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi624N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

EPDiQ92611
MaxQBiQ92611
PaxDbiQ92611
PeptideAtlasiQ92611
PRIDEiQ92611
ProteomicsDBi75356

PTM databases

iPTMnetiQ92611
PhosphoSitePlusiQ92611

Expressioni

Gene expression databases

BgeeiENSG00000134109
CleanExiHS_EDEM1
ExpressionAtlasiQ92611 baseline and differential
GenevisibleiQ92611 HS

Organism-specific databases

HPAiHPA029565

Interactioni

Subunit structurei

Interacts with DNAJC10 (By similarity). Interacts with DERL2 and DERL3. Binds to SEL1L.By similarity2 Publications

GO - Molecular functioni

  • misfolded protein binding Source: UniProtKB

Protein-protein interaction databases

BioGridi115047, 37 interactors
IntActiQ92611, 10 interactors
MINTiQ92611
STRINGi9606.ENSP00000256497

Structurei

3D structure databases

ProteinModelPortaliQ92611
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the glycosyl hydrolase 47 family.Curated

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG2429 Eukaryota
ENOG410XS6F LUCA
GeneTreeiENSGT00530000063069
HOGENOMiHOG000004833
HOVERGENiHBG051158
InParanoidiQ92611
KOiK10084
OMAiKQPFGDM
OrthoDBiEOG091G04YS
PhylomeDBiQ92611
TreeFamiTF300807

Family and domain databases

Gene3Di1.50.10.10, 1 hit
InterProiView protein in InterPro
IPR012341 6hp_glycosidase-like_sf
IPR001382 Glyco_hydro_47
IPR036026 Seven-hairpin_glycosidases
PfamiView protein in Pfam
PF01532 Glyco_hydro_47, 1 hit
PRINTSiPR00747 GLYHDRLASE47
SUPFAMiSSF48225 SSF48225, 1 hit

Sequences (2)i

Sequence statusi: Complete.

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

Isoform 1 (identifier: Q92611-1) [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
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
Length:657
Mass (Da):73,768
Last modified:February 1, 1997 - v1
Checksum:iE0097901B3BF02FB
GO
Isoform 2 (identifier: Q92611-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-195: Missing.
     561-657: LFDEDNPVHK...RQIDQMVGLI → VCVLQDEPRNI

Note: No experimental confirmation available.
Show »
Length:376
Mass (Da):42,670
Checksum:i1C30323E865938D2
GO

Sequence cautioni

The sequence BAA13203 differs from that shown. Reason: Erroneous initiation.Curated

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0567031 – 195Missing in isoform 2. 1 PublicationAdd BLAST195
Alternative sequenceiVSP_056704561 – 657LFDED…MVGLI → VCVLQDEPRNI in isoform 2. 1 PublicationAdd BLAST97

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
CCDSiCCDS33686.1 [Q92611-1]
RefSeqiNP_055489.1, NM_014674.2 [Q92611-1]
UniGeneiHs.224616

Genome annotation databases

EnsembliENST00000256497; ENSP00000256497; ENSG00000134109 [Q92611-1]
ENST00000445686; ENSP00000394099; ENSG00000134109 [Q92611-2]
GeneIDi9695
KEGGihsa:9695
UCSCiuc003bqi.4 human [Q92611-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiEDEM1_HUMAN
AccessioniPrimary (citable) accession number: Q92611
Secondary accession number(s): A8K9C8, B4DXP3
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 16, 2001
Last sequence update: February 1, 1997
Last modified: July 18, 2018
This is version 164 of the entry and version 1 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. Glycosyl hydrolases
    Classification of glycosyl hydrolase families and list of entries
  2. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. SIMILARITY comments
    Index of protein domains and families

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