KEGG   Homo sapiens (human): 5317Help
Entry
5317              CDS       T01001                                 

Gene name
PKP1, B6P, EDSFS
Definition
(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 OrthologParalogGFIT
Motif
Pfam: Arm HEAT_EZ V-ATPase_H_C Arm_2
Motif
Other DBs
NCBI-GeneID: 5317
NCBI-ProteinID: NP_000290
OMIM: 601975
HGNC: 9023
Ensembl: ENSG00000081277
Vega: OTTHUMG00000035729
Pharos: Q13835(Tbio)
UniProt: Q13835
Structure
PDB: 

Position
1q32.1
AA seq 747 aa AA seqDB search
MNHSPLKTALAYECFQDQDNSTLALPSDQKMKTGTSGRQRVQEQVMMTVKRQKSKSSQSS
TLSHSNRGSMYDGLADNYNYGTTSRSSYYSKFQAGNGSWGYPIYNGTLKREPDNRRFSSY
SQMENWSRHYPRGSCNTTGAGSDICFMQKIKASRSEPDLYCDPRGTLRKGTLGSKGQKTT
QNRYSFYSTCSGQKAIKKCPVRPPSCASKQDPVYIPPISCNKDLSFGHSRASSKICSEDI
ECSGLTIPKAVQYLSSQDEKYQAIGAYYIQHTCFQDESAKQQVYQLGGICKLVDLLRSPN
QNVQQAAAGALRNLVFRSTTNKLETRRQNGIREAVSLLRRTGNAEIQKQLTGLLWNLSST
DELKEELIADALPVLADRVIIPFSGWCDGNSNMSREVVDPEVFFNATGCLRKRLGMRELL
ALVPQRATSSRVNLSSADAGRQTMRNYSGLIDSLMAYVQNCVAASRCDDKSVENCMCVLH
NLSYRLDAEVPTRYRQLEYNARNAYTEKSSTGCFSNKSDKMMNNNYDCPLPEEETNPKGS
GWLYHSDAIRTYLNLMGKSKKDATLEACAGALQNLTASKGLMSSGMSQLIGLKEKGLPQI
ARLLQSGNSDVVRSGASLLSNMSRHPLLHRVMGNQVFPEVTRLLTSHTGNTSNSEDILSS
ACYTVRNLMASQPQLAKQYFSSSMLNNIINLCRSSASPKAAEAARLLLSDMWSSKELQGV
LRQQGFDRNMLGTLAGANSLRNFTSRF
NT seq 2244 nt NT seq  +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

DBGET integrated database retrieval system