KEGG   Homo sapiens (human): 5317
Entry
5317              CDS       T01001                                 
Symbol
PKP1, B6P, EDSFS
Name
(RefSeq) plakophilin 1
  KO
K10387  plakophilin 1
Organism
hsa  Homo sapiens (human)
Pathway
hsa04382  Cornified envelope formation
Network
nt06545  Cornified envelope formation
  Element
N01922  Localization of envoplakin and periplakin to the plasma membrane (PM)
Disease
H00644  Ectodermal dysplasia/skin fragility syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09150 Organismal Systems
  09158 Development and regeneration
   04382 Cornified envelope formation
    5317 (PKP1)
 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)
SSDB
Motif
Pfam: Arm ARM_ARMC5 HEAT_EZ HEAT V-ATPase_H_C UTP20_C Arm_2 LTN1_E3_ligase_6th ARMC9_ARM
Other DBs
NCBI-GeneID: 5317
NCBI-ProteinID: NP_000290
OMIM: 601975
HGNC: 9023
Ensembl: ENSG00000081277
UniProt: Q13835
Structure
Position
1:201283506..201332989
AA seq 747 aa
MNHSPLKTALAYECFQDQDNSTLALPSDQKMKTGTSGRQRVQEQVMMTVKRQKSKSSQSS
TLSHSNRGSMYDGLADNYNYGTTSRSSYYSKFQAGNGSWGYPIYNGTLKREPDNRRFSSY
SQMENWSRHYPRGSCNTTGAGSDICFMQKIKASRSEPDLYCDPRGTLRKGTLGSKGQKTT
QNRYSFYSTCSGQKAIKKCPVRPPSCASKQDPVYIPPISCNKDLSFGHSRASSKICSEDI
ECSGLTIPKAVQYLSSQDEKYQAIGAYYIQHTCFQDESAKQQVYQLGGICKLVDLLRSPN
QNVQQAAAGALRNLVFRSTTNKLETRRQNGIREAVSLLRRTGNAEIQKQLTGLLWNLSST
DELKEELIADALPVLADRVIIPFSGWCDGNSNMSREVVDPEVFFNATGCLRKRLGMRELL
ALVPQRATSSRVNLSSADAGRQTMRNYSGLIDSLMAYVQNCVAASRCDDKSVENCMCVLH
NLSYRLDAEVPTRYRQLEYNARNAYTEKSSTGCFSNKSDKMMNNNYDCPLPEEETNPKGS
GWLYHSDAIRTYLNLMGKSKKDATLEACAGALQNLTASKGLMSSGMSQLIGLKEKGLPQI
ARLLQSGNSDVVRSGASLLSNMSRHPLLHRVMGNQVFPEVTRLLTSHTGNTSNSEDILSS
ACYTVRNLMASQPQLAKQYFSSSMLNNIINLCRSSASPKAAEAARLLLSDMWSSKELQGV
LRQQGFDRNMLGTLAGANSLRNFTSRF
NT seq 2244 nt   +upstreamnt  +downstreamnt
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

  All links  
Disease (2)   
   OMIM (2)   
Gene (6)   
   RefGene (1)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   OC (1)   
Protein sequence (4)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (2)   
DNA sequence (20)   
   RefSeq(nuc) (2)   
   GenBank (9)   
   EMBL (9)   
3D Structure (1)   
   PDB (1)   
Protein domain (9)   
   Pfam (9)   
All databases (42)   

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