EMC1 (ER membrane protein complex subunit 1)

2003-05-01  

Identity

HGNC
LOCATION
1p36.13
LOCUSID
ALIAS
CAVIPMR,KIAA0090
FUSION GENES

Other Information

Locus ID:

NCBI: 23065
MIM: 616846
HGNC: 28957
Ensembl: ENSG00000127463

Variants:

dbSNP: 23065
ClinVar: 23065
TCGA: ENSG00000127463
COSMIC: EMC1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000127463ENST00000375199Q8N766
ENSG00000127463ENST00000375208Q8N766
ENSG00000127463ENST00000475079Q5TG59
ENSG00000127463ENST00000477853Q8N766
ENSG00000127463ENST00000486238H7C4E3
ENSG00000127463ENST00000486405H7C5A2
ENSG00000127463ENST00000641089A0A286YEW0

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
269422882016Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy.23
280122752016EMC1-dependent stabilization drives membrane penetration of a partially destabilized non-enveloped virus.20
200958542010Novel breast cancer risk alleles and interaction with ionizing radiation among U.S. radiologic technologists.16

Citation

Dessen P

EMC1 (ER membrane protein complex subunit 1)

Atlas Genet Cytogenet Oncol Haematol. 2003-05-01

Online version: http://atlasgeneticsoncology.org/gene/41057/emc1