Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs Other IDs Associated diseases
Entrez ID	27248
Gene name	Endoplasmic reticulum lectin 1
Gene symbol	ERLEC1
Synonyms (NCBI Gene)	C2orf30CIMCL24936CL25084HEL117XTP3-BXTP3TPB
Chromosome	2
Chromosome location	2p16.2
Summary	This gene encodes a resident endoplasmic reticulum (ER) protein that functions in N-glycan recognition. This protein is thought to be involved in ER-associated degradation via its interaction with the membrane-associated ubiquitin ligase complex. It also

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miRTarBase ID	miRNA	Experiments
MIRT969176	hsa-miR-4251	CLIP-seq
MIRT969177	hsa-miR-4303	CLIP-seq
MIRT969178	hsa-miR-4329	CLIP-seq
MIRT969179	hsa-miR-4666-5p	CLIP-seq
MIRT969180	hsa-miR-4714-3p	CLIP-seq
MIRT969181	hsa-miR-4729	CLIP-seq
MIRT969182	hsa-miR-4802-3p	CLIP-seq
MIRT969183	hsa-miR-101	CLIP-seq
MIRT969184	hsa-miR-1267	CLIP-seq
MIRT969185	hsa-miR-1273g	CLIP-seq
MIRT969186	hsa-miR-128	CLIP-seq
MIRT969187	hsa-miR-140-5p	CLIP-seq
MIRT969188	hsa-miR-141	CLIP-seq
MIRT969189	hsa-miR-144	CLIP-seq
MIRT969190	hsa-miR-200a	CLIP-seq
MIRT969191	hsa-miR-2052	CLIP-seq
MIRT969192	hsa-miR-218	CLIP-seq
MIRT969193	hsa-miR-28-3p	CLIP-seq
MIRT969194	hsa-miR-30a	CLIP-seq
MIRT969195	hsa-miR-30b	CLIP-seq
MIRT969196	hsa-miR-30c	CLIP-seq
MIRT969197	hsa-miR-30d	CLIP-seq
MIRT969198	hsa-miR-30e	CLIP-seq
MIRT969199	hsa-miR-3138	CLIP-seq
MIRT969200	hsa-miR-3144-3p	CLIP-seq
MIRT969201	hsa-miR-3150a-5p	CLIP-seq
MIRT969202	hsa-miR-3150b-5p	CLIP-seq
MIRT969203	hsa-miR-3163	CLIP-seq
MIRT969204	hsa-miR-3167	CLIP-seq
MIRT969205	hsa-miR-3607-3p	CLIP-seq
MIRT969206	hsa-miR-3607-5p	CLIP-seq
MIRT969207	hsa-miR-3647-3p	CLIP-seq
MIRT969208	hsa-miR-3652	CLIP-seq
MIRT969209	hsa-miR-3682-5p	CLIP-seq
MIRT969210	hsa-miR-3924	CLIP-seq
MIRT969211	hsa-miR-4430	CLIP-seq
MIRT969212	hsa-miR-4505	CLIP-seq
MIRT969213	hsa-miR-455-5p	CLIP-seq
MIRT969214	hsa-miR-4643	CLIP-seq
MIRT969215	hsa-miR-466	CLIP-seq
MIRT969216	hsa-miR-4693-3p	CLIP-seq
MIRT969217	hsa-miR-4718	CLIP-seq
MIRT969218	hsa-miR-4719	CLIP-seq
MIRT969219	hsa-miR-4752	CLIP-seq
MIRT969220	hsa-miR-4789-3p	CLIP-seq
MIRT969221	hsa-miR-4789-5p	CLIP-seq
MIRT969222	hsa-miR-4796-3p	CLIP-seq
MIRT969223	hsa-miR-4800-5p	CLIP-seq
MIRT969224	hsa-miR-488	CLIP-seq
MIRT969225	hsa-miR-501-5p	CLIP-seq
MIRT969226	hsa-miR-513b	CLIP-seq
MIRT969227	hsa-miR-520g	CLIP-seq
MIRT969228	hsa-miR-520h	CLIP-seq
MIRT969229	hsa-miR-548c-3p	CLIP-seq
MIRT969230	hsa-miR-548g	CLIP-seq
MIRT969231	hsa-miR-549	CLIP-seq
MIRT969232	hsa-miR-563	CLIP-seq
MIRT969233	hsa-miR-582-5p	CLIP-seq
MIRT969234	hsa-miR-624	CLIP-seq
MIRT969235	hsa-miR-630	CLIP-seq
MIRT969236	hsa-miR-647	CLIP-seq
MIRT969237	hsa-miR-653	CLIP-seq
MIRT969238	hsa-miR-876-5p	CLIP-seq
MIRT969201	hsa-miR-3150a-5p	CLIP-seq
MIRT969202	hsa-miR-3150b-5p	CLIP-seq
MIRT969214	hsa-miR-4643	CLIP-seq
MIRT969215	hsa-miR-466	CLIP-seq
MIRT969220	hsa-miR-4789-3p	CLIP-seq
MIRT969221	hsa-miR-4789-5p	CLIP-seq
MIRT969183	hsa-miR-101	CLIP-seq
MIRT969189	hsa-miR-144	CLIP-seq
MIRT969201	hsa-miR-3150a-5p	CLIP-seq
MIRT969202	hsa-miR-3150b-5p	CLIP-seq
MIRT1987227	hsa-miR-346	CLIP-seq
MIRT969210	hsa-miR-3924	CLIP-seq
MIRT1987228	hsa-miR-4288	CLIP-seq
MIRT969214	hsa-miR-4643	CLIP-seq
MIRT969215	hsa-miR-466	CLIP-seq
MIRT969220	hsa-miR-4789-3p	CLIP-seq
MIRT969221	hsa-miR-4789-5p	CLIP-seq
MIRT969233	hsa-miR-582-5p	CLIP-seq
MIRT969235	hsa-miR-630	CLIP-seq
MIRT1987229	hsa-miR-632	CLIP-seq
MIRT1987230	hsa-miR-654-3p	CLIP-seq
MIRT969183	hsa-miR-101	CLIP-seq
MIRT969186	hsa-miR-128	CLIP-seq
MIRT969189	hsa-miR-144	CLIP-seq
MIRT2221713	hsa-miR-27a	CLIP-seq
MIRT2221714	hsa-miR-27b	CLIP-seq
MIRT969201	hsa-miR-3150a-5p	CLIP-seq
MIRT969202	hsa-miR-3150b-5p	CLIP-seq
MIRT2221715	hsa-miR-3618	CLIP-seq
MIRT2221716	hsa-miR-3673	CLIP-seq
MIRT969210	hsa-miR-3924	CLIP-seq
MIRT2221717	hsa-miR-3929	CLIP-seq
MIRT2221718	hsa-miR-4419b	CLIP-seq
MIRT2221719	hsa-miR-4478	CLIP-seq
MIRT969214	hsa-miR-4643	CLIP-seq
MIRT969215	hsa-miR-466	CLIP-seq
MIRT969216	hsa-miR-4693-3p	CLIP-seq
MIRT969218	hsa-miR-4719	CLIP-seq
MIRT969220	hsa-miR-4789-3p	CLIP-seq
MIRT969221	hsa-miR-4789-5p	CLIP-seq
MIRT2221720	hsa-miR-499-3p	CLIP-seq
MIRT2221721	hsa-miR-499a-3p	CLIP-seq
MIRT969226	hsa-miR-513b	CLIP-seq
MIRT969230	hsa-miR-548g	CLIP-seq
MIRT2221722	hsa-miR-548u	CLIP-seq
MIRT969233	hsa-miR-582-5p	CLIP-seq
MIRT969234	hsa-miR-624	CLIP-seq
MIRT969235	hsa-miR-630	CLIP-seq
MIRT2221723	hsa-miR-934	CLIP-seq
MIRT969186	hsa-miR-128	CLIP-seq
MIRT2525352	hsa-miR-1255a	CLIP-seq
MIRT2525353	hsa-miR-1255b	CLIP-seq
MIRT2525354	hsa-miR-1273e	CLIP-seq
MIRT969186	hsa-miR-128	CLIP-seq
MIRT969189	hsa-miR-144	CLIP-seq
MIRT2221713	hsa-miR-27a	CLIP-seq
MIRT2221714	hsa-miR-27b	CLIP-seq
MIRT969208	hsa-miR-3652	CLIP-seq
MIRT2221716	hsa-miR-3673	CLIP-seq
MIRT969209	hsa-miR-3682-5p	CLIP-seq
MIRT2525355	hsa-miR-378	CLIP-seq
MIRT2525356	hsa-miR-378b	CLIP-seq
MIRT2525357	hsa-miR-378c	CLIP-seq
MIRT2525358	hsa-miR-378d	CLIP-seq
MIRT2525359	hsa-miR-378e	CLIP-seq
MIRT2525360	hsa-miR-378f	CLIP-seq
MIRT2525361	hsa-miR-378h	CLIP-seq
MIRT2525362	hsa-miR-378i	CLIP-seq
MIRT2221717	hsa-miR-3929	CLIP-seq
MIRT2525363	hsa-miR-422a	CLIP-seq
MIRT2525364	hsa-miR-433	CLIP-seq
MIRT2221718	hsa-miR-4419b	CLIP-seq
MIRT969211	hsa-miR-4430	CLIP-seq
MIRT2221719	hsa-miR-4478	CLIP-seq
MIRT969209	hsa-miR-3682-5p	CLIP-seq
MIRT2525364	hsa-miR-433	CLIP-seq

Show/Hide all (14)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IDA	16531414
GO:0005515	Function	Protein binding	IPI	16531414, 18264092, 18502753
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	IBA
GO:0005788	Component	Endoplasmic reticulum lumen	IDA	16531414, 18264092
GO:0005788	Component	Endoplasmic reticulum lumen	IEA
GO:0030968	Process	Endoplasmic reticulum unfolded protein response	IEA
GO:0030970	Process	Retrograde protein transport, ER to cytosol	IBA
GO:0036503	Process	ERAD pathway	IDA	18502753
GO:0036503	Process	ERAD pathway	IEA
GO:0036503	Process	ERAD pathway	TAS	21062743
GO:0044322	Component	Endoplasmic reticulum quality control compartment	TAS
GO:0051082	Function	Unfolded protein binding	IDA	21062743
GO:1904153	Process	Negative regulation of retrograde protein transport, ER to cytosol	IMP	25660456

MIM	HGNC	e!Ensembl
611229	25222	ENSG00000068912

Q96DZ1

Protein name

Endoplasmic reticulum lectin 1 (ER lectin) (Erlectin) (XTP3-transactivated gene B protein)

Protein function

Probable lectin that binds selectively to improperly folded lumenal proteins. May function in endoplasmic reticulum quality control and endoplasmic reticulum-associated degradation (ERAD) of both non-glycosylated proteins and glycoproteins. {ECO

PDB

8KES , 8KET , 8KEV

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF07915	PRKCSH	111 → 199	Glucosidase II beta subunit-like protein	Family
PF07915	PRKCSH	342 → 421	Glucosidase II beta subunit-like protein	Family

Sequence

MEEGGGGVRSLVPGGPVLLVLCGLLEASGGGRALPQLSDDIPFRVNWPGTEFSLPTTGVL
YKEDNYVIMTTAHKEKYKCILPLVTSGDEEEEKDYKGPNPRELLEPLFKQSSCSYRIESY
WTYEVCHGKHIRQYHEEKETGQKINIHEYYLGNMLAKNLLFEKEREAEEKEKSNEIPTKN
IEGQMTPYYPVGMGNGTPCSLKQNRPRSSTVMYICHPESKHEILSVAEVTTCEYEVVILT
PLLCSHPKYRFRASPVNDIFCQSLPGSPFKPLTLRQLEQQEEILRVPFRRNKEEDLQSTK
EERFPAIHKSIAIGSQPVLTVGTTHISKLTDDQLIKEFLSGSYCFRGGVGWWKYEFCYGK
HVHQYHEDKDSGKTSVVVGTWNQEEHIEWAKKNTARAYHLQDDGTQTVRMVSHFYGNGDI
CDITDKPRQVTVKLKCKESDSPHAVTVYMLEPHSCQYILGVESPVICKILDTADENGLLS
LPN

Sequence length

483

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Mandibular prognathia	Likely pathogenic	rs751933066, rs1373789245, rs146951835	RCV001258378 RCV001258379 RCV001258377 RCV001258380	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ANOREXIA NERVOSA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOLESTASIS	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLASS III MALOCCLUSION	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EATING DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (10)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acute encephalopathy	Encephalopathy	BEFREE	20934285		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anorexia Nervosa	Anorexia	GWASCAT_DG	31308545		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma of lung	Lung carcinoma	BEFREE	21118962		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholestasis	CTD_human_DG	26881866		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cystitis Interstitial	Interstitial cystitis	Pubtator	39399486	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	21118962		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10878546, 11014567		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthritis Hip	Osteoarthritis	Pubtator	39261869	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	Pubtator	36072904, 36894919	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Syringomyelia	Syringomyelia	BEFREE	29532166		★★★★★ ★☆☆☆☆ Found in Text Mining only

ERLEC1 (endoplasmic reticulum lectin 1)