PHACTR1
Sign in to saveAlso known as RPEL, RPEL1, dJ257A7.2, phosphatase and actin regulator 1, EIEE70, DEE70
protein-coding gene in the species Homo sapiens
Gene data
PHACTR1- Name
- phosphatase and actin regulator 1
- Type
- protein-coding
- Position
- 12,716,312–13,290,446 (+)
- Aliases
- DEE70, EIEE70, RPEL, RPEL1, dJ257A7.2
- Ensembl
- ENSG00000112137
- RefSeq RNA
- NM_001242648.4, NM_001322308.3, NM_001322309.3, NM_001322310.2, NM_001322311.2
- RefSeq protein
- NP_001229577.1, NP_001309237.1, NP_001309238.1, NP_001309239.1, NP_001309240.1
The protein encoded by this gene is a member of the phosphatase and actin regulator family of proteins. This family member can bind actin and regulate the reorganization of the actin cytoskeleton. It plays a role in tubule formation and in endothelial cell survival. Polymorphisms in this gene are associated with susceptibility to myocardial infarction, coronary artery disease and cervical artery dissection. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2016].
Gene Ontology
Biological process
Molecular function
via MyGene.info
Gene · Ensembl
phosphatase and actin regulator 1
- Symbol
- PHACTR1
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 6:12,716,312-13,290,446
- Strand
- Forward (+)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
Show 9 more facts
- HomoloGene ID
- 33597
- genetic association
- myocardial infarction
- genomic end
- 13290446
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/221692
- chromosome
- human chromosome 6
- genomic start
- 12716312
- cytogenetic location
- 6p24.1
- expressed in
- putamen
via Wikidata · CC0