ERLEC1 - endoplasmic reticulum lectin 1 Gene

Homo sapiens

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

Gene ID: 27248 | Gene type: protein coding

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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04500	ERLEC1 Human Pre-designed siRNA Set A		/	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

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