Identity
HGNC
LOCATION
2p16.2
LOCUSID
ALIAS
C2orf30,CIM,CL24936,CL25084,HEL117,XTP3-B,XTP3TPB
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 27248
MIM: 611229
HGNC: 25222
Ensembl: ENSG00000068912
Variants:
dbSNP: 27248
ClinVar: 27248
TCGA: ENSG00000068912
COSMIC: ERLEC1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000068912 | ENST00000185150 | Q96DZ1 |
| ENSG00000068912 | ENST00000185150 | V9HWD3 |
| ENSG00000068912 | ENST00000378239 | Q96DZ1 |
| ENSG00000068912 | ENST00000405123 | Q96DZ1 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 32442352 | 2020 | Identification of pathogenic variants of ERLEC1 in individuals with Class III malocclusion by exome sequencing. | 3 |
| 32442352 | 2020 | Identification of pathogenic variants of ERLEC1 in individuals with Class III malocclusion by exome sequencing. | 3 |
| 29706535 | 2018 | Redundant and Antagonistic Roles of XTP3B and OS9 in Decoding Glycan and Non-glycan Degrons in ER-Associated Degradation. | 26 |
| 29706535 | 2018 | Redundant and Antagonistic Roles of XTP3B and OS9 in Decoding Glycan and Non-glycan Degrons in ER-Associated Degradation. | 26 |
| 23356641 | 2013 | Endoplasmic reticulum lectin XTP3-B inhibits endoplasmic reticulum-associated degradation of a misfolded α1-antitrypsin variant. | 22 |
| 23356641 | 2013 | Endoplasmic reticulum lectin XTP3-B inhibits endoplasmic reticulum-associated degradation of a misfolded α1-antitrypsin variant. | 22 |
| 23097496 | 2012 | Unassembled CD147 is an endogenous endoplasmic reticulum-associated degradation substrate. | 56 |
| 23097496 | 2012 | Unassembled CD147 is an endogenous endoplasmic reticulum-associated degradation substrate. | 56 |
| 21062743 | 2011 | Mannose trimming is required for delivery of a glycoprotein from EDEM1 to XTP3-B and to late endoplasmic reticulum-associated degradation steps. | 33 |
| 21404621 | 2011 | [OS-9 and XTP3-B: lectins that regulate endoplasmic reticulum-associated degradation (ERAD)]. | 0 |
| 21062743 | 2011 | Mannose trimming is required for delivery of a glycoprotein from EDEM1 to XTP3-B and to late endoplasmic reticulum-associated degradation steps. | 33 |
| 21404621 | 2011 | [OS-9 and XTP3-B: lectins that regulate endoplasmic reticulum-associated degradation (ERAD)]. | 0 |
| 19917667 | 2010 | Human XTP3-B binds to alpha1-antitrypsin variant null(Hong Kong) via the C-terminal MRH domain in a glycan-dependent manner. | 23 |
| 21118962 | 2010 | Novel metastasis-related gene CIM functions in the regulation of multiple cellular stress-response pathways. | 16 |
| 19917667 | 2010 | Human XTP3-B binds to alpha1-antitrypsin variant null(Hong Kong) via the C-terminal MRH domain in a glycan-dependent manner. | 23 |
Citation
Dessen P
ERLEC1 (endoplasmic reticulum lectin 1)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/62894/erlec1-(endoplasmic-reticulum-lectin-1)
