Homo sapiens (human): 221692
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Entry
221692 CDS
T01001
Symbol
PHACTR1, DEE70, EIEE70, RPEL, RPEL1, dJ257A7.2
Name
(RefSeq) phosphatase and actin regulator 1
KO
K17594
phosphatase and actin regulator
Organism
hsa
Homo sapiens (human)
Disease
H00606
Early infantile epileptic encephalopathy
Brite
KEGG Orthology (KO) [BR:
hsa00001
]
09180 Brite Hierarchies
09181 Protein families: metabolism
01009 Protein phosphatases and associated proteins [BR:
hsa01009
]
221692 (PHACTR1)
Protein phosphatases and associated proteins [BR:
hsa01009
]
Protein serine/threonine phosphatases
Phosphoprotein phosphatases (PPPs)
Protein phosphatase-1
PP1-interacting proteins (PIPs)
221692 (PHACTR1)
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GFIT
Motif
Pfam:
RPEL
Sod_Ni
Motif
Other DBs
NCBI-GeneID:
221692
NCBI-ProteinID:
NP_001229577
OMIM:
608723
HGNC:
20990
Ensembl:
ENSG00000112137
UniProt:
Q9C0D0
B4DHU0
Structure
PDB
PDBj
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All DBs
Position
6:12716767..13287837
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AA seq
580 aa
AA seq
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MDYPKMDYFLDVESAHRLLDVESAQRFFYSQGAQARRATLLLPPTLMAASSEDDIDRRPI
RRVRSKSDTPYLAEARISFNLGAAEEVERLAAMRSDSLVPGTHTPPIRRRSKFANLGRIF
KPWKWRKKKSEKFKHTSAALERKISMRQSREELIKRGVLKEIYDKDGELSISNEEDSLEN
GQSLSSSQLSLPALSEMEPVPMPRDPCSYEVLQPSDIMDGPDPGAPVKLPCLPVKLSPPL
PPKKVMICMPVGGPDLSLVSYTAQKSGQQGVAQHHHTVLPSQIQHQLQYGSHGQHLPSTT
GSLPMHPSGCRMIDELNKTLAMTMQRLESSEQRVPCSTSYHSSGLHSGDGVTKAGPMGLP
EIRQVPTVVIECDDNKENVPHESDYEDSSCLYTREEEEEEEDEDDDSSLYTSSLAMKVCR
KDSLAIKLSNRPSKRELEEKNILPRQTDEERLELRQQIGTKLTRRLSQRPTAEELEQRNI
LKPRNEQEEQEEKREIKRRLTRKLSQRPTVEELRERKILIRFSDYVEVADAQDYDRRADK
PWTRLTAADKAAIRKELNEFKSTEMEVHELSRHLTRFHRP
NT seq
1743 nt
NT seq
+upstream
nt +downstream
nt
atggattatcccaaaatggattattttctggatgtagagtctgctcacagactcttggat
gttgagtcagctcaaagattcttctacagtcaaggagctcaagctcgccgggcgaccctg
ctcctgcctcccacattaatggcggcatcctcggaggatgatatagaccggcggcccatc
cggagagtgcgctccaagagcgacacgccgtacctcgcagaggccaggatctcctttaac
ctgggggcagctgaggaagtggagaggctggcggcgatgcgttctgactccctcgtccca
ggcacccacaccccacccatccgcaggagaagtaagtttgccaacctgggaaggattttc
aagccttggaaatggaggaagaagaaaagcgaaaagttcaaacacacgtcagcagccctg
gaaaggaaaatatctatgaggcaaagcagagaagagctgataaagcgaggagtcctgaag
gaaatctatgataaagatggggaactctctatatccaatgaagaggactccctagaaaat
gggcagtccctgagctccagccagctgtctctgcctgccctgtccgaaatggagccagtc
ccaatgcccagggatccctgctcatatgaggtgctccaaccgtcagacatcatggatggg
ccagatcctggcgcccctgtgaaattgccttgtctgccagtgaaactgtcgcctccgcta
cctccaaagaaagtcatgatctgtatgcccgtgggggggccagacctctcactggtgtcc
tacacagcccagaagagtggccagcagggtgtggcccagcaccaccacactgtcctgccc
tcccagatccagcaccagctgcagtacggcagccacggccagcacctcccctccaccacc
ggctccctccccatgcacccctcgggctgcagaatgatagacgagctcaacaaaacgctg
gccatgaccatgcagaggctggaaagctctgagcagcgggtcccctgttccacttcttac
cacagctctgggttgcactcgggtgatggggtcaccaaagcaggacctatgggccttcca
gaaataagacaagtgccaactgttgtgattgaatgtgatgacaataaagaaaatgtgcct
catgagtcagactacgaagactcttcttgcctgtatacaagagaagaggaggaagaggag
gaggacgaagacgacgacagctcattatacaccagctccctggccatgaaggtctgcagg
aaggactccttagccatcaaactcagcaacaggccctccaagcgagagctggaagaaaag
aacatccttcccaggcagacggatgaggagcggctggagctgaggcaacagattggcacc
aagctcaccaggcggctgagccagaggccaactgcagaggaactggaacagaggaacatt
ttgaaacctcggaatgaacaagaggaacaggaggagaagagagagatcaagaggaggcta
acccgaaagctcagtcaaaggcccacggtggaagagcttcgggaaagaaagatcctcatc
cgcttcagtgactacgtggaggtggctgacgctcaggactatgaccgcagggcagataag
ccgtggacccgcctcaccgctgcagacaaagctgccatccgaaaggagctcaatgaattc
aaaagcactgagatggaagttcatgaattgagtagacacttaacaaggtttcaccgacct
taa
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