PEF1 (penta-EF-hand domain containing 1)

2014-11-01  

Identity

HGNC
LOCATION
1p35.2
LOCUSID
ALIAS
ABP32,PEF1A
FUSION GENES

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

References

Pubmed IDYearTitleCitations
118838992002Both ALG-2 and peflin, penta-EF-hand (PEF) proteins, are stabilized by dimerization through their fifth EF-hand regions.5
272760122016Penta-EF-Hand Protein Peflin Is a Negative Regulator of ER-To-Golgi Transport.0

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