PHACTR1
entrez
221692
canonical
uniprot
Q9C0D0
canonical
ensembl
ENSG00000112137
resolver
ensp
ENSP00000329880
resolver
ensp
ENSP00000501726
resolver
ensp
ENSP00000501921
resolver
ensp
ENSP00000502037
resolver
ensp
ENSP00000502157
resolver
ensp
ENSP00000502172
resolver
ensp
ENSP00000509410
resolver
ensp
ENSP00000509690
resolver
ensp
ENSP00000509837
resolver
enst
ENST00000482982
resolver
enst
ENST00000674595
resolver
enst
ENST00000675203
resolver
enst
ENST00000676234
resolver
enst
ENST00000687600
resolver
enst
ENST00000692995
resolver
genesymbol
PHACTR1
resolver
genesymbol_syn
KIAA1733
resolver
genesymbol_syn
RPEL1
resolver
hgnc
HGNC:20990
resolver
uniprot
A0A6Q8PFA8
resolver
uniprot
A0A6Q8PG87
resolver
uniprot
A0A6Q8PGC2
resolver
uniprot
A0A8I5QJF9
resolver
uniprot
A8K1V2
resolver
uniprot
B4DHU0
resolver
uniprot
Q3MJ93
resolver
uniprot
Q5JSJ2
resolver
uniprot_entry
A0A6Q8PFA8_HUMAN
resolver
uniprot_entry
A0A6Q8PG87_HUMAN
resolver
uniprot_entry
A0A6Q8PGC2_HUMAN
resolver
uniprot_entry
A0A8I5QJF9_HUMAN
resolver
uniprot_entry
B4DHU0_HUMAN
resolver
uniprot_entry
PHAR1_HUMAN
resolver
uniprot_sec
A8K1V2
resolver
uniprot_sec
Q3MJ93
resolver
uniprot_sec
Q5JSJ2
resolver
amino_acid_sequence
MDYPKMDYFLDVESAHRLLDVESAQRFFYSQGAQARRATLLLPPTLMAASSEDDIDRRPIRRVRSKSDTPYLAEARISFNLGAAEEVERLAAMRSDSLVPGTHTPPIRRRSKFANLGRIFKPWKWRKKKSEKFKHTSAALERKISMRQSREELIKRGVLKEIYDKDGELSISNEEDSLENGQSLSSSQLSLPALSEMEPVPMPRDPCSYEVLQPSDIMDGPDPGAPVKLPCLPVKLSPPLPPKKVMICMPVGGPDLSLVSYTAQKSGQQGVAQHHHTVLPSQIQHQLQYGSHGQHLPSTTGSLPMHPSGCRMIDELNKTLAMTMQRLESSEQRVPCSTSYHSSGLHSGDGVTKAGPMGLPEIRQVPTVVIECDDNKENVPHESDYEDSSCLYTREEEEEEEDEDDDSSLYTSSLAMKVCRKDSLAIKLSNRPSKRELEEKNILPRQTDEERLELRQQIGTKLTRRLSQRPTAEELEQRNILKPRNEQEEQEEKREIKRRLTRKLSQRPTVEELRERKILIRFSDYVEVADAQDYDRRADKPWTRLTAADKAAIRKELNEFKSTEMEVHELSRHLTRFHRP
uniprot
proteins
disease_involvement
DISEASE: Developmental and epileptic encephalopathy 70 (DEE70) [MIM:618298]: A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE70 is an autosomal dominant form with onset in first months of life and variable severity. {ECO:0000269|PubMed:23033978, ECO:0000269|PubMed:30256902}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Binds actin monomers (G actin) and plays a role in multiple processes including the regulation of actin cytoskeleton dynamics, actin stress fibers formation, cell motility and survival, formation of tubules by endothelial cells, and regulation of PPP1CA activity (PubMed:21798305, PubMed:21939755). Involved in the regulation of cortical neuron migration and dendrite arborization (By similarity). {ECO:0000250|UniProtKB:Q2M3X8, ECO:0000269|PubMed:21798305, ECO:0000269|PubMed:21939755}.
uniprot
proteins
mass_dalton
66308
uniprot
proteins
protein_family
Phosphatase and actin regulator family
uniprot
proteins
pubmed
11214970
uniprot
proteins
pubmed
14574404
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
21798305
uniprot
proteins
pubmed
21939755
uniprot
proteins
pubmed
23033978
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
30256902
uniprot
proteins
sequence_length
580
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Synapse {ECO:0000250}. Nucleus {ECO:0000250}. Note=Enriched at synapses (By similarity). Cytoplasmic in resting cells, and is imported into the nucleus upon serum stimulation. Interaction with actin prevents nuclear import (By similarity). {ECO:0000250}.
uniprot
proteins