PEF1 (penta-EF-hand domain containing 1)

2014-11-01  

Identity

HGNC
PEF1
LOCATION
1p35.2
LOCUSID
553115
ALIAS
ABP32,PEF1A
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 553115
MIM: 610033
HGNC: 30009
Ensembl: ENSG00000162517

Variants:

dbSNP: 553115
ClinVar: 553115
TCGA: ENSG00000162517
COSMIC: PEF1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000162517ENST00000373703Q9UBV8
ENSG00000162517ENST00000373703A0A384MQX5

Expression (GTEx)

0
50
100
150
200
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

References

Pubmed IDYearTitleCitations
272760122016Penta-EF-Hand Protein Peflin Is a Negative Regulator of ER-To-Golgi Transport.9
272760122016Penta-EF-Hand Protein Peflin Is a Negative Regulator of ER-To-Golgi Transport.9
118838992002Both ALG-2 and peflin, penta-EF-hand (PEF) proteins, are stabilized by dimerization through their fifth EF-hand regions.8
118838992002Both ALG-2 and peflin, penta-EF-hand (PEF) proteins, are stabilized by dimerization through their fifth EF-hand regions.8

Citation

Dessen P

PEF1 (penta-EF-hand domain containing 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/71824/pef1-(penta-ef-hand-domain-containing-1)