PERM1 (PPARGC1 and ESRR induced regulator, muscle 1)

2014-11-01  

Identity

HGNC
PERM1
LOCATION
1p36.33
LOCUSID
84808
ALIAS
C1orf170

Other Information

Locus ID:

NCBI: 84808
MIM: 615921
HGNC: 28208
Ensembl: ENSG00000187642

Variants:

dbSNP: 84808
ClinVar: 84808
TCGA: ENSG00000187642
COSMIC: PERM1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000187642ENST00000341290Q5SV97
ENSG00000187642ENST00000433179Q5SV97

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
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
325741892020Perm1 regulates cardiac energetics as a downstream target of the histone methyltransferase Smyd1.9
325741892020Perm1 regulates cardiac energetics as a downstream target of the histone methyltransferase Smyd1.9
308624732019Perm1 regulates CaMKII activation and shapes skeletal muscle responses to endurance exercise training.12
308624732019Perm1 regulates CaMKII activation and shapes skeletal muscle responses to endurance exercise training.12
248705422014A draft map of the human proteome.977
248705422014A draft map of the human proteome.977

Citation

Dessen P

PERM1 (PPARGC1 and ESRR induced regulator, muscle 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/71828/img/teaching-explorer/