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ERLEC1 [endoplasmic reticulum quality control compartment]
Stable Identifier
R-HSA-5362354
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
endoplasmic reticulum quality control compartment
Synonyms
XTP3TPB, XTP3-B
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Diseases of signal transduction by growth factor receptors and second messengers (Homo sapiens)
Hh mutants abrogate ligand secretion (Homo sapiens)
Hh mutants are degraded by ERAD (Homo sapiens)
Hh processing variants are recruited to SEL1:SYVN at the ER membrane (Homo sapiens)
SHH processing variants:ERLEC:OS9:SEL1:SYVN1 dimer:DERL2:VCP hexamer [endoplasmic reticulum membrane] (Homo sapiens)
SHH processing variants:OS9/ERLEC1 [endoplasmic reticulum lumen] (Homo sapiens)
OS9/ERLEC1 [endoplasmic reticulum quality control compartment] (Homo sapiens)
ERLEC1 [endoplasmic reticulum quality control compartment] (Homo sapiens)
SHH processing variants:OS9/ERLEC1 [endoplasmic reticulum lumen] (Homo sapiens)
OS9/ERLEC1 [endoplasmic reticulum quality control compartment] (Homo sapiens)
ERLEC1 [endoplasmic reticulum quality control compartment] (Homo sapiens)
Hh processing variants are translocated to the cytosol in a VCP-dependent manner (Homo sapiens)
OS9/ERLEC1 [endoplasmic reticulum quality control compartment] (Homo sapiens)
ERLEC1 [endoplasmic reticulum quality control compartment] (Homo sapiens)
ub-SHH processing variants:ERLEC:OS9:SEL1:SYVN1 dimer:DERL2:VCP hexamer [endoplasmic reticulum membrane] (Homo sapiens)
ub-SHH processing variants:OS9/ERLEC1 [endoplasmic reticulum lumen] (Homo sapiens)
OS9/ERLEC1 [endoplasmic reticulum quality control compartment] (Homo sapiens)
ERLEC1 [endoplasmic reticulum quality control compartment] (Homo sapiens)
Hh processing variants are ubiquitinated (Homo sapiens)
SHH processing variants:ERLEC:OS9:SEL1:SYVN1 dimer:DERL2:VCP hexamer [endoplasmic reticulum membrane] (Homo sapiens)
SHH processing variants:OS9/ERLEC1 [endoplasmic reticulum lumen] (Homo sapiens)
OS9/ERLEC1 [endoplasmic reticulum quality control compartment] (Homo sapiens)
ERLEC1 [endoplasmic reticulum quality control compartment] (Homo sapiens)
ub-SHH processing variants:ERLEC:OS9:SEL1:SYVN1 dimer:DERL2:VCP hexamer [endoplasmic reticulum membrane] (Homo sapiens)
ub-SHH processing variants:OS9/ERLEC1 [endoplasmic reticulum lumen] (Homo sapiens)
OS9/ERLEC1 [endoplasmic reticulum quality control compartment] (Homo sapiens)
ERLEC1 [endoplasmic reticulum quality control compartment] (Homo sapiens)
Hh processing variants bind lectins (Homo sapiens)
OS9/ERLEC1 [endoplasmic reticulum quality control compartment] (Homo sapiens)
ERLEC1 [endoplasmic reticulum quality control compartment] (Homo sapiens)
SHH processing variants:OS9/ERLEC1 [endoplasmic reticulum lumen] (Homo sapiens)
OS9/ERLEC1 [endoplasmic reticulum quality control compartment] (Homo sapiens)
ERLEC1 [endoplasmic reticulum quality control compartment] (Homo sapiens)
Disorders of transmembrane transporters (Homo sapiens)
ABC transporter disorders (Homo sapiens)
Defective CFTR causes cystic fibrosis (Homo sapiens)
CFTR F508del binds components of the ERAD machinery for ubiquitination and degradation (Homo sapiens)
CFTR F508del:ERAD complex [endoplasmic reticulum membrane] (Homo sapiens)
ERAD complex [endoplasmic reticulum membrane] (Homo sapiens)
OS9/ERLEC1 [endoplasmic reticulum quality control compartment] (Homo sapiens)
ERLEC1 [endoplasmic reticulum quality control compartment] (Homo sapiens)
ERAD complex [endoplasmic reticulum membrane] (Homo sapiens)
OS9/ERLEC1 [endoplasmic reticulum quality control compartment] (Homo sapiens)
ERLEC1 [endoplasmic reticulum quality control compartment] (Homo sapiens)
RNF5 and RNF185 ubiquitinate CFTR F508del (Homo sapiens)
CFTR F508del:ERAD complex [endoplasmic reticulum membrane] (Homo sapiens)
ERAD complex [endoplasmic reticulum membrane] (Homo sapiens)
OS9/ERLEC1 [endoplasmic reticulum quality control compartment] (Homo sapiens)
ERLEC1 [endoplasmic reticulum quality control compartment] (Homo sapiens)
ub-CFTR F508del:ERAD complex [endoplasmic reticulum membrane] (Homo sapiens)
ERAD complex [endoplasmic reticulum membrane] (Homo sapiens)
OS9/ERLEC1 [endoplasmic reticulum quality control compartment] (Homo sapiens)
ERLEC1 [endoplasmic reticulum quality control compartment] (Homo sapiens)
VCP-catalyzed ATP hydrolysis promotes the translocation of CFTR F508del into the cytosol (Homo sapiens)
ERAD complex [endoplasmic reticulum membrane] (Homo sapiens)
OS9/ERLEC1 [endoplasmic reticulum quality control compartment] (Homo sapiens)
ERLEC1 [endoplasmic reticulum quality control compartment] (Homo sapiens)
ub-CFTR F508del:ERAD complex [endoplasmic reticulum membrane] (Homo sapiens)
ERAD complex [endoplasmic reticulum membrane] (Homo sapiens)
OS9/ERLEC1 [endoplasmic reticulum quality control compartment] (Homo sapiens)
ERLEC1 [endoplasmic reticulum quality control compartment] (Homo sapiens)
Signal Transduction (Homo sapiens)
Signaling by Hedgehog (Homo sapiens)
Hedgehog ligand biogenesis (Homo sapiens)
C-terminal Hh fragments are bound by lectins (Homo sapiens)
C-terminal Hh fragments:OS9/ERLEC1 [endoplasmic reticulum lumen] (Homo sapiens)
OS9/ERLEC1 [endoplasmic reticulum quality control compartment] (Homo sapiens)
ERLEC1 [endoplasmic reticulum quality control compartment] (Homo sapiens)
OS9/ERLEC1 [endoplasmic reticulum quality control compartment] (Homo sapiens)
ERLEC1 [endoplasmic reticulum quality control compartment] (Homo sapiens)
C-terminal Hh fragments are recruited to SEL1:SYVN1 at the ER membrane (Homo sapiens)
C-terminal Hh fragments:ERLEC/OS9:SEL1:SYVN1dimer:DERL2:VCP hexamer [endoplasmic reticulum membrane] (Homo sapiens)
C-terminal Hh fragments:OS9/ERLEC1 [endoplasmic reticulum lumen] (Homo sapiens)
OS9/ERLEC1 [endoplasmic reticulum quality control compartment] (Homo sapiens)
ERLEC1 [endoplasmic reticulum quality control compartment] (Homo sapiens)
C-terminal Hh fragments:OS9/ERLEC1 [endoplasmic reticulum lumen] (Homo sapiens)
OS9/ERLEC1 [endoplasmic reticulum quality control compartment] (Homo sapiens)
ERLEC1 [endoplasmic reticulum quality control compartment] (Homo sapiens)
SYVN1 ubiquitinates Hh C-terminal fragments (Homo sapiens)
C-terminal Hh fragments:ERLEC/OS9:SEL1:SYVN1dimer:DERL2:VCP hexamer [endoplasmic reticulum membrane] (Homo sapiens)
C-terminal Hh fragments:OS9/ERLEC1 [endoplasmic reticulum lumen] (Homo sapiens)
OS9/ERLEC1 [endoplasmic reticulum quality control compartment] (Homo sapiens)
ERLEC1 [endoplasmic reticulum quality control compartment] (Homo sapiens)
ub-C-terminal Hh fragments:ERLEC/OS9:SEL1:SYVN1dimer:DERL2:VCP hexamer [endoplasmic reticulum membrane] (Homo sapiens)
OS9/ERLEC1 [endoplasmic reticulum quality control compartment] (Homo sapiens)
ERLEC1 [endoplasmic reticulum quality control compartment] (Homo sapiens)
VCP-catalyzed ATP hydrolysis promotes the translocation of Hh-C into the cytosol (Homo sapiens)
OS9/ERLEC1 [endoplasmic reticulum quality control compartment] (Homo sapiens)
ERLEC1 [endoplasmic reticulum quality control compartment] (Homo sapiens)
ub-C-terminal Hh fragments:ERLEC/OS9:SEL1:SYVN1dimer:DERL2:VCP hexamer [endoplasmic reticulum membrane] (Homo sapiens)
OS9/ERLEC1 [endoplasmic reticulum quality control compartment] (Homo sapiens)
ERLEC1 [endoplasmic reticulum quality control compartment] (Homo sapiens)
Transport of small molecules (Homo sapiens)
ABC-family proteins mediated transport (Homo sapiens)
CFTR binds components of the ERAD machinery for ubiquitination and degradation (Homo sapiens)
ERAD complex [endoplasmic reticulum membrane] (Homo sapiens)
OS9/ERLEC1 [endoplasmic reticulum quality control compartment] (Homo sapiens)
ERLEC1 [endoplasmic reticulum quality control compartment] (Homo sapiens)
misfolded CFTR:ERAD complex [endoplasmic reticulum membrane] (Homo sapiens)
ERAD complex [endoplasmic reticulum membrane] (Homo sapiens)
OS9/ERLEC1 [endoplasmic reticulum quality control compartment] (Homo sapiens)
ERLEC1 [endoplasmic reticulum quality control compartment] (Homo sapiens)
RNF5 and RNF185 ubiquitinate misfolded CFTR (Homo sapiens)
Ub-misfolded nascent CFTR:ERAD complex [endoplasmic reticulum membrane] (Homo sapiens)
ERAD complex [endoplasmic reticulum membrane] (Homo sapiens)
OS9/ERLEC1 [endoplasmic reticulum quality control compartment] (Homo sapiens)
ERLEC1 [endoplasmic reticulum quality control compartment] (Homo sapiens)
misfolded CFTR:ERAD complex [endoplasmic reticulum membrane] (Homo sapiens)
ERAD complex [endoplasmic reticulum membrane] (Homo sapiens)
OS9/ERLEC1 [endoplasmic reticulum quality control compartment] (Homo sapiens)
ERLEC1 [endoplasmic reticulum quality control compartment] (Homo sapiens)
VCP-catalyzed ATP hydrolysis promotes the translocation of misfolded CFTR into the cytosol (Homo sapiens)
ERAD complex [endoplasmic reticulum membrane] (Homo sapiens)
OS9/ERLEC1 [endoplasmic reticulum quality control compartment] (Homo sapiens)
ERLEC1 [endoplasmic reticulum quality control compartment] (Homo sapiens)
Ub-misfolded nascent CFTR:ERAD complex [endoplasmic reticulum membrane] (Homo sapiens)
ERAD complex [endoplasmic reticulum membrane] (Homo sapiens)
OS9/ERLEC1 [endoplasmic reticulum quality control compartment] (Homo sapiens)
ERLEC1 [endoplasmic reticulum quality control compartment] (Homo sapiens)
External Reference Information
External Reference
UniProt:Q96DZ1 ERLEC1
Gene Names
ERLEC1, C2orf30, XTP3TPB, UNQ1878/PRO4321
Chain
signal peptide:1-33, chain:34-483
Reference Genes
BioGPS Gene:27248 ERLEC1
COSMIC (genes):ERLEC1 ERLEC1
CTD Gene:27248 ERLEC1
dbSNP Gene:27248 ERLEC1
ENSEMBL:ENSG00000068912 ERLEC1
ENSEMBL_homo_sapiens_GENE:ENSG00000068912.15 ERLEC1
HGNC:25222 ERLEC1
KEGG Gene (Homo sapiens):27248 ERLEC1
Monarch:27248 ERLEC1
NCBI Gene:27248 ERLEC1
OMIM:611229 ERLEC1
UCSC:Q96DZ1 ERLEC1
Reference Transcript
RefSeq:NM_015701.4 ERLEC1
RefSeq:NM_001127397.2 ERLEC1
RefSeq:NM_001127398.2 ERLEC1
Other Identifiers
11716643_s_at
11716644_a_at
11741872_a_at
16880063
224628_PM_at
224628_at
224630_PM_at
224630_at
2482231
2482232
2482233
2482236
2482237
2482240
2482241
2482242
2482243
2482244
2482247
2482248
2482252
2482253
2482256
2482258
2482259
2482260
2482261
2482262
2482263
2482264
27248
46250_at
8041967
A_14_P112400
A_33_P3325018
A_33_P3325023
GE85819
GO:0005515
GO:0005783
GO:0005788
GO:0006886
GO:0023052
GO:0030163
GO:0030246
GO:0030433
GO:0030968
GO:0030970
GO:0036503
GO:0043226
GO:0044322
GO:0051082
GO:1904153
HMNXSV003006676
Hs.7100.0.A1_3p_at
Hs.7100.0.A2_3p_at
ILMN_1724376
PH_hs_0020744
TC02000311.hg
Participates
as a member of
OS9/ERLEC1 [endoplasmic reticulum quality control compartment] (Homo sapiens)
Inferred To
Dmel\CG6766 [endoplasmic reticulum quality control compartment]
(Drosophila melanogaster)
erlec1 [endoplasmic reticulum quality control compartment]
(Xenopus tropicalis)
sb:cb309 [endoplasmic reticulum quality control compartment]
(Danio rerio)
Erlec1 [endoplasmic reticulum quality control compartment]
(Mus musculus)
Erlec1 [endoplasmic reticulum quality control compartment]
(Rattus norvegicus)
ERLEC1 [endoplasmic reticulum quality control compartment]
(Bos taurus)
ERLEC1 [endoplasmic reticulum quality control compartment]
(Caenorhabditis elegans)
ERLEC1 [endoplasmic reticulum quality control compartment]
(Canis familiaris)
ERLEC1 [endoplasmic reticulum quality control compartment]
(Dictyostelium discoideum)
ERLEC1 [endoplasmic reticulum quality control compartment]
(Gallus gallus)
ERLEC1 [endoplasmic reticulum quality control compartment]
(Schizosaccharomyces pombe)
ERLEC1 [endoplasmic reticulum quality control compartment]
(Sus scrofa)
Cross References
RefSeq
NP_056516.2
,
NP_001120869.1
,
NP_001120870.1
OpenTargets
ENSG00000068912
GeneCards
Q96DZ1
HPA
ENSG00000068912-ERLEC1
Ensembl
ENSG00000068912
,
ENST00000378239
,
ENST00000185150
,
ENSP00000385629
,
ENSP00000367485
,
ENSP00000185150
,
ENST00000405123
PRO
Q96DZ1
Pharos - Targets
Q96DZ1
Interactors (3)
Accession
#Entities
Entities
Confidence Score
Evidence (IntAct)
UniProt:Q9UBV2 SEL1L
1
SEL1L [endoplasmic reticulum membrane]
(R-HSA-1911545)
0.527
6
UniProt:P0DTC8 8
2
8 [extracellular region]
(R-COV-9755410)
8 [endoplasmic reticulum lumen]
(R-COV-9727283)
0.527
2
UniProt:P04578 env
7
Surface protein gp120 (P04578) [cytosol]
(R-HIV-189269)
Transmembrane protein gp41 (P04578) [cytosol]
(R-HIV-189359)
Glycosylated Envelope glycoprotein gp160 [Golgi membrane]
(R-HIV-3149443)
Envelope glycoprotein gp160 [endoplasmic reticulum membrane]
(R-HIV-189343)
Transmembrane protein gp41 [viral envelope]
(R-HIV-171195)
ENV [viral envelope]
(R-HIV-173439)
Surface protein gp120 [viral envelope]
(R-HIV-171211)
0.462
3
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