Gene Gene information from NCBI Gene database.
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
miRNA miRNA information provided by mirtarbase database.
139
miRTarBase ID miRNA Experiments Reference
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
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
611229 25222 ENSG00000068912
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
IEGQMTPYYPVGMGNGTPC
SLKQNRPRSSTVMYICHPESKHEILSVAEVTTCEYEVVILT
PLLCSHPKYRFRASPVNDIFCQSLPGSPFKPLTLRQLEQQEEILRVPFRRNKEEDLQSTK
EERFPAIHKSIAIGSQPVLTVGTTHISKLTDDQLIKEFLSGSYCFRGGVGWWKYEFCYGK
HVHQYHEDKDSGKTSVVVGTWNQEEHIEWAKKNTARAYHLQDDGTQTVRMVSHFYGNGDI
C
DITDKPRQVTVKLKCKESDSPHAVTVYMLEPHSCQYILGVESPVICKILDTADENGLLS
LPN
Sequence length 483
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
4
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Mandibular prognathia Likely pathogenic rs751933066, rs1373789245, rs146951835 RCV001258378
RCV001258379
RCV001258377
RCV001258380
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Cystitis Interstitial Associate 39399486
Neoplasms Associate 28698647
Osteoarthritis Hip Inhibit 39261869
Periodontitis Associate 36072904, 36894919