Homo sapiens (human): 5317
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Entry
5317 CDS
T01001
Symbol
PKP1, B6P, EDSFS
Name
(RefSeq) plakophilin 1
KO
K10387
plakophilin 1
Organism
hsa
Homo sapiens (human)
Disease
H00644
Ectodermal dysplasia/skin fragility syndrome
Brite
KEGG Orthology (KO) [BR:
hsa00001
]
09180 Brite Hierarchies
09183 Protein families: signaling and cellular processes
04812 Cytoskeleton proteins [BR:
hsa04812
]
5317 (PKP1)
Cytoskeleton proteins [BR:
hsa04812
]
Eukaryotic cytoskeleton proteins
Intermediate filaments
Intermediate filament-binding proteins
5317 (PKP1)
BRITE hierarchy
SSDB
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
Arm
ARM_ARMC5
HEAT_EZ
HEAT
V-ATPase_H_C
UTP20_C
Arm_2
LTN1_E3_ligase_6th
ARMC9_ARM
Motif
Other DBs
NCBI-GeneID:
5317
NCBI-ProteinID:
NP_000290
OMIM:
601975
HGNC:
9023
Ensembl:
ENSG00000081277
UniProt:
Q13835
Structure
PDB
PDBj
LinkDB
All DBs
Position
1:201283506..201332989
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AA seq
747 aa
AA seq
DB search
MNHSPLKTALAYECFQDQDNSTLALPSDQKMKTGTSGRQRVQEQVMMTVKRQKSKSSQSS
TLSHSNRGSMYDGLADNYNYGTTSRSSYYSKFQAGNGSWGYPIYNGTLKREPDNRRFSSY
SQMENWSRHYPRGSCNTTGAGSDICFMQKIKASRSEPDLYCDPRGTLRKGTLGSKGQKTT
QNRYSFYSTCSGQKAIKKCPVRPPSCASKQDPVYIPPISCNKDLSFGHSRASSKICSEDI
ECSGLTIPKAVQYLSSQDEKYQAIGAYYIQHTCFQDESAKQQVYQLGGICKLVDLLRSPN
QNVQQAAAGALRNLVFRSTTNKLETRRQNGIREAVSLLRRTGNAEIQKQLTGLLWNLSST
DELKEELIADALPVLADRVIIPFSGWCDGNSNMSREVVDPEVFFNATGCLRKRLGMRELL
ALVPQRATSSRVNLSSADAGRQTMRNYSGLIDSLMAYVQNCVAASRCDDKSVENCMCVLH
NLSYRLDAEVPTRYRQLEYNARNAYTEKSSTGCFSNKSDKMMNNNYDCPLPEEETNPKGS
GWLYHSDAIRTYLNLMGKSKKDATLEACAGALQNLTASKGLMSSGMSQLIGLKEKGLPQI
ARLLQSGNSDVVRSGASLLSNMSRHPLLHRVMGNQVFPEVTRLLTSHTGNTSNSEDILSS
ACYTVRNLMASQPQLAKQYFSSSMLNNIINLCRSSASPKAAEAARLLLSDMWSSKELQGV
LRQQGFDRNMLGTLAGANSLRNFTSRF
NT seq
2244 nt
NT seq
+upstream
nt +downstream
nt
atgaaccactcgccgctcaagaccgccttggcgtacgaatgcttccaggaccaggacaac
tccacgttggctttgccgtcggaccaaaagatgaaaacaggcacgtctggcaggcagcgc
gtgcaggagcaggtgatgatgaccgtcaagcggcagaagtccaagtcttcccagtcgtcc
accctgagccactccaatcgaggttccatgtatgatggcttggctgacaattacaactat
gggaccaccagcaggagcagctactactccaagttccaggcagggaatggctcatgggga
tatccgatctacaatggaaccctcaagcgggagcctgacaacaggcgcttcagctcctac
agccagatggagaactggagccggcactacccccggggcagctgtaacaccaccggcgca
ggcagcgacatctgcttcatgcagaaaatcaaggcgagccgcagtgagcccgacctctac
tgtgacccacggggcaccctgcgcaagggcacgctgggcagcaagggccagaagaccacc
cagaaccgctacagcttttacagcacctgcagtggtcagaaggccataaagaagtgccct
gtgcgcccgccctcttgtgcctccaagcaggaccctgtgtatatcccgcccatctcctgc
aacaaggacctgtcctttggccactctagggccagctccaagatctgcagtgaggacatc
gagtgcagtgggctgaccatccccaaggctgtgcagtacctgagctcccaggatgagaag
taccaggccattggggcctattacatccagcatacctgcttccaggatgaatctgccaag
caacaggtctatcagctgggaggcatctgcaagctggtggacctcctccgcagccccaac
cagaacgtccagcaggccgcggcaggggccctgcgcaacctggtgttcaggagcaccacc
aacaagctggagacccggaggcagaatgggatccgcgaggcagtcagcctcctgaggaga
accgggaacgccgagatccagaagcagctgactgggctgctctggaacctgtcttccact
gacgagctgaaggaggaactcattgccgacgccctgcctgttctggccgaccgcgtcatc
attcccttctctggctggtgcgatggcaatagcaacatgtcccgggaagtggtggaccct
gaggtcttcttcaatgccacaggctgcttgagaaagagactgggcatgcgggagcttctg
gctcttgttccgcaaagggccactagtagcagggtgaacctgagctcggccgatgcaggc
cgccagaccatgcgtaactactcagggctcattgattccctcatggcctatgtccagaac
tgtgtagcggccagccgctgtgacgacaagtctgtggaaaactgcatgtgtgttctgcac
aacctctcctaccgcctggacgccgaggtgcccacccgctaccgccagctggagtataac
gcccgcaacgcctacaccgagaagtcctccactggctgcttcagcaacaagagcgacaag
atgatgaacaacaactatgactgccccctgcctgaggaagagaccaaccccaagggcagc
ggctggttgtaccattcagatgccatccgcacctacctgaacctcatgggcaagagcaag
aaagatgctaccctggaggcctgtgctggtgccctgcagaacctgacagccagcaagggg
ctgatgtccagtggcatgagccagttgattgggctgaaggaaaagggcctgccacaaatt
gcccgcctcctgcaatctggcaactctgatgtggtgcggtccggagcctccctcctgagc
aacatgtcccgccaccctctgctgcacagagtgatggggaaccaggtgttcccggaggtg
accaggctcctcaccagccacactggcaataccagcaactccgaagacatcttgtcctcg
gcctgctacactgtgaggaacctgatggcctcgcagccacaactggccaagcagtacttc
tccagcagcatgctcaacaacatcatcaacctgtgccgaagcagtgcctcacccaaggcc
gcagaagctgcccggcttctcctgtctgacatgtggtccagcaaggaactgcagggtgtc
ctcagacagcaaggtttcgataggaacatgctgggaaccttagctggggccaacagcctc
aggaacttcacctcccgattctaa
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