Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
27248
Gene name Gene Name - the full gene name approved by the HGNC.
Endoplasmic reticulum lectin 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ERLEC1
Synonyms (NCBI Gene) Gene synonyms aliases
C2orf30, CIM, CL24936, CL25084, HEL117, XTP3-B, XTP3TPB
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2p16.2
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IDA 16531414
GO:0005515 Function Protein binding IPI 16531414, 18264092, 18502753
GO:0005788 Component Endoplasmic reticulum lumen IDA 16531414, 18264092
GO:0036503 Process ERAD pathway TAS 21062743
GO:0044322 Component Endoplasmic reticulum quality control compartment TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
611229 25222 ENSG00000068912
Protein
UniProt ID 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
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Protein processing in endoplasmic reticulum   ABC-family proteins mediated transport
Hedgehog ligand biogenesis
Hh mutants that don't undergo autocatalytic processing are degraded by ERAD
Defective CFTR causes cystic fibrosis
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Cholestasis Cholestasis rs121909103, rs751511532, rs376368459, rs762702807, rs1578490102, rs1578499691, rs1578504946, rs1317656688, rs199791850, rs1452792080, rs1578491039 26881866
Unknown
Disease term Disease name Evidence References Source
Anorexia Anorexia GWAS
Associations from Text Mining
Disease Name Relationship Type References
Cystitis Interstitial Associate 39399486
Neoplasms Associate 28698647
Osteoarthritis Hip Inhibit 39261869
Periodontitis Associate 36072904, 36894919