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Protein

ER degradation-enhancing alpha-mannosidase-like protein 1

Gene

EDEM1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

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

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Unfolded protein response

Enzyme and pathway databases

BioCyciZFISH:ENSG00000134109-MONOMER.
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

HGNCiHGNC:18967. EDEM1.

Subcellular locationi

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

GO - Cellular componenti

Complete GO annotation...

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...)Sequence analysis1
Glycosylationi198N-linked (GlcNAc...)Sequence analysis1
Glycosylationi299N-linked (GlcNAc...)Sequence analysis1
Glycosylationi342N-linked (GlcNAc...)Sequence analysis1
Glycosylationi624N-linked (GlcNAc...)Sequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

EPDiQ92611.
MaxQBiQ92611.
PaxDbiQ92611.
PeptideAtlasiQ92611.
PRIDEiQ92611.

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. 34 interactors.
IntActiQ92611. 9 interactors.
MINTiMINT-3049027.
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.
OMAiELLYMAH.
OrthoDBiEOG091G04YS.
PhylomeDBiQ92611.
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.

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

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

3D structure databases

ProteinModelPortaliQ92611.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115047. 34 interactors.
IntActiQ92611. 9 interactors.
MINTiMINT-3049027.
STRINGi9606.ENSP00000256497.

Protein family/group databases

CAZyiGH47. Glycoside Hydrolase Family 47.

PTM databases

iPTMnetiQ92611.
PhosphoSitePlusiQ92611.

Polymorphism and mutation databases

BioMutaiEDEM1.
DMDMi17368550.

Proteomic databases

EPDiQ92611.
MaxQBiQ92611.
PaxDbiQ92611.
PeptideAtlasiQ92611.
PRIDEiQ92611.

Protocols and materials databases

DNASUi9695.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi9695.
DisGeNETi9695.
GeneCardsiEDEM1.
H-InvDBHIX0030794.
HGNCiHGNC:18967. EDEM1.
HPAiHPA029565.
MIMi607673. gene.
neXtProtiNX_Q92611.
OpenTargetsiENSG00000134109.
PharmGKBiPA128394554.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

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

Enzyme and pathway databases

BioCyciZFISH:ENSG00000134109-MONOMER.
ReactomeiR-HSA-381038. XBP1(S) activates chaperone genes.
R-HSA-901032. ER Quality Control Compartment (ERQC).

Miscellaneous databases

ChiTaRSiEDEM1. human.
GeneWikiiEDEM1.
GenomeRNAii9695.
PROiQ92611.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000134109.
CleanExiHS_EDEM1.
ExpressionAtlasiQ92611. baseline and differential.
GenevisibleiQ92611. 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 nameiEDEM1_HUMAN
AccessioniPrimary (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: November 2, 2016
This is version 151 of the entry and version 1 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 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

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.