ERLEC1 - endoplasmic reticulum lectin 1 Gene

Also Known as CIM; HEL117; XTP3-B; C2orf30; CL24936; CL25084; XTP3TPB

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 27248

About ERLEC1

Cytogenetic location: 2p16.2 Genomic coordinates (GRCh38): 2:53,787,044-53,818,796 (from NCBI)

This gene has 43 transcripts (splice variants), 207 orthologues and 1 paralogue. Ubiquitous expression in thyroid (RPKM 36.0), prostate (RPKM 29.5) and 25 other tissues.

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 functions as a regulator of multiple cellular stress-response pathways in a manner that promotes metastatic cell survival. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 21. [provided by RefSeq, Aug 2011]

ERLEC1 Products (3)

mRNA	Protein	Name
NM_001127397.3	NP_001120869.1	endoplasmic reticulum lectin 1 isoform 2 precursor
NM_001127398.3	NP_001120870.1	endoplasmic reticulum lectin 1 isoform 3 precursor
NM_015701.5	NP_056516.2	endoplasmic reticulum lectin 1 isoform 1 precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IDA IDA: Inferred from direct assay	16531414	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	16531414	GOA
enables unfolded protein binding	IDA IDA: Inferred from direct assay	21062743	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in ERAD pathway	IDA IDA: Inferred from direct assay	18502753	GOA
involved in negative regulation of retrograde protein transport, ER to cytosol	IMP IMP: Inferred from mutant phenotype	25660456	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in endoplasmic reticulum lumen	IDA IDA: Inferred from direct assay	16531414	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ERLEC1 Protein Structure

PRKCSH

0
100
200
300
400
483 a.a.

Protein Preferred Names	Protein Names
endoplasmic reticulum lectin 1	ER lectin

Related Diseases

Diseases	Alias
Prognathism, Mandibular	Habsburg Jaw 'Habsburg Jaw' 'Hapsburg Jaw' Prognathism Mandibular Hapsburg Jaw Autosomal Dominant Prognathism
Mitochondrial Dna Depletion Syndrome 13	MTDPS13 Fbxl4 Deficiency Fbxl4-Related Encephalomyopathic Mitochondrial Dna Depletion Syndrome Mitochondrial Dna Depletion Syndrome 13, Encephalomyopathic Type Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Variable Craniofacial Anomalies Mtdna Depletion Syndrome, Encephalomyopathic Form With Variable Craniofacial Anomalies Fbxl4-Related Early-Onset Mitochondrial Encephalopathy Mitochondrial Dna Depletion Syndrome 13 , Encephalomyopathic Type Bxl4-Related Early-Onset Mitochondrial Encephalopathy Encephalomyopathic Mitochondrial Dna Depletion Syndrome-13 Fbxl4-Related Early Onset Mitochondrial Encephalopathy Mitochondrial Dna Depletion Syndrome, Type 13
Congenital Disorder Of Glycosylation, Type Iib	CDG2B CDGIIB Glucosidase I Deficiency Congenital Disorder Of Glycosylation Type Iib Cdg Iib Mogs-Cdg Cdg Syndrome Type Iib Cdg-Iib Carbohydrate Deficient Glycoprotein Syndrome Type Iib Congenital Disorder Of Glycosylation Type 2b Glucosidase 1 Deficiency Type Iib Congenital Disorder Of Glycosylation Glycosylation, Congenital Disorder Of, Type Iib
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies	Familial Encephalopathy With Neuroserpin Inclusion Bodies FENIB Encephalopathy, Familial, With Collins Bodies Familial Dementia With Neuroserpin Inclusion Bodies Familial Encephalopathy With Collins Bodies
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04500	ERLEC1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS16262	Erlec1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS16319	Erlec1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	ERLEC1	RGD	RGD:1306508
Mus musculus	ERLEC1	MGD	MGI:1914003
Bos taurus	ERLEC1	VGNC	VGNC:28587
Macaca mulatta	ERLEC1	VGNC	VGNC:72346
Felis catus	ERLEC1	VGNC	VGNC:61948
Canis familiaris	ERLEC1	VGNC	VGNC:40458
Others	ERLEC1	NCBI