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

  All links  
Ontology (2)   
   KEGG BRITE (2)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Genome (1)   
   KEGG GENOME (1)   
Gene (9)   
   KEGG ORTHOLOGY (1)   
   RefGene (1)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   OC (1)   
   PHAROS (1)   
   VEGA (1)   
Protein sequence (4)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (2)   
DNA sequence (20)   
   RefSeq(nuc) (2)   
   GenBank (9)   
   EMBL (9)   
Protein domain (4)   
   Pfam (4)   
All databases (43)   

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