PSMG1 (proteasome assembly chaperone 1)

2011-04-01  

Identity

HGNC
PSMG1
LOCATION
21q22.2
LOCUSID
8624
ALIAS
C21LRP,DSCR2,LRPC21,PAC-1,PAC1

Other Information

Locus ID:

NCBI: 8624
MIM: 605296
HGNC: 3043
Ensembl: ENSG00000183527

Variants:

dbSNP: 8624
ClinVar: 8624
TCGA: ENSG00000183527
COSMIC: PSMG1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000183527ENST00000331573O95456
ENSG00000183527ENST00000380900O95456
ENSG00000183527ENST00000411828H7C3B4
ENSG00000183527ENST00000431628F8WBH7

Expression (GTEx)

0
50
100
150
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
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
187584642008Loci on 20q13 and 21q22 are associated with pediatric-onset inflammatory bowel disease.113
162519692005A heterodimeric complex that promotes the assembly of mammalian 20S proteasomes.79
210797432010Interaction of Crohn's disease susceptibility genes in an Australian paediatric cohort.11
271000872016Trisomy 21 Alters DNA Methylation in Parent-of-Origin-Dependent and -Independent Manners.9
215095942011Differential expression of a set of genes in follicular and classic variants of papillary thyroid carcinoma.6
155904172004DSCR2, a Down syndrome critical region protein, is localized to the endoplasmic reticulum of mammalian cells.3
156707752005Molecular and cellular characterization of the Down syndrome critical region protein 2.3
187936122008Down syndrome critical region 2 protein inhibits the transcriptional activity of peroxisome proliferator-activated receptor beta in HEK293 cells.2
225930262013Pseudomonas infection in children with early-onset Crohn's disease: an association with a mutation close to PSMG1.1

Citation

Dessen P

PSMG1 (proteasome assembly chaperone 1)

Atlas Genet Cytogenet Oncol Haematol. 2011-04-01

Online version: http://atlasgeneticsoncology.org/gene/52183/psmg1