EMC1 (ER membrane protein complex subunit 1)

2003-05-01  

Identity

HGNC
EMC1
LOCATION
1p36.13
LOCUSID
23065
ALIAS
CAVIPMR,KIAA0090
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
320924402020Novel truncating and missense variants extending the spectrum of EMC1-related phenotypes, causing autism spectrum disorder, severe global development delay and visual impairment.9
320924402020Novel truncating and missense variants extending the spectrum of EMC1-related phenotypes, causing autism spectrum disorder, severe global development delay and visual impairment.9
269422882016Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy.49
280122752016EMC1-dependent stabilization drives membrane penetration of a partially destabilized non-enveloped virus.40
269422882016Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy.49
280122752016EMC1-dependent stabilization drives membrane penetration of a partially destabilized non-enveloped virus.40
200958542010Novel breast cancer risk alleles and interaction with ionizing radiation among U.S. radiologic technologists.23
200958542010Novel breast cancer risk alleles and interaction with ionizing radiation among U.S. radiologic technologists.23

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