Q13835

PTMD Annotation Information


※ Protein Information

Tag Content
UniProt Accession PKP1_HUMAN; Q13835;
Entrez ID 5317
GenBank Protein ID NM_000299.3; NM_001005337.2;
GenBank Nucleotide ID NP_000290.2; NP_001005337.1;
Protein Name Plakophilin-1 (Band 6 protein) (B6P)
Gene Name PKP1
Organism Homo sapiens
NCBI Taxa ID 9606
Functional DescriptionSeems to play a role in junctional plaques. Contributes to epidermal morphogenesis.
Sequence
(Fasta)
MNHSPLKTAL AYECFQDQDN STLALPSDQK MKTGTSGRQR VQEQVMMTVK RQKSKSSQSS 60
TLSHSNRGSM YDGLADNYNY GTTSRSSYYS KFQAGNGSWG YPIYNGTLKR EPDNRRFSSY 120
SQMENWSRHY PRGSCNTTGA GSDICFMQKI KASRSEPDLY CDPRGTLRKG TLGSKGQKTT 180
QNRYSFYSTC SGQKAIKKCP VRPPSCASKQ DPVYIPPISC NKDLSFGHSR ASSKICSEDI 240
ECSGLTIPKA VQYLSSQDEK YQAIGAYYIQ HTCFQDESAK QQVYQLGGIC KLVDLLRSPN 300
QNVQQAAAGA LRNLVFRSTT NKLETRRQNG IREAVSLLRR TGNAEIQKQL TGLLWNLSST 360
DELKEELIAD ALPVLADRVI IPFSGWCDGN SNMSREVVDP EVFFNATGCL RKRLGMRELL 420
ALVPQRATSS RVNLSSADAG RQTMRNYSGL IDSLMAYVQN CVAASRCDDK SVENCMCVLH 480
NLSYRLDAEV PTRYRQLEYN ARNAYTEKSS TGCFSNKSDK MMNNNYDCPL PEEETNPKGS 540
GWLYHSDAIR TYLNLMGKSK KDATLEACAG ALQNLTASKG LMSSGMSQLI GLKEKGLPQI 600
ARLLQSGNSD VVRSGASLLS NMSRHPLLHR VMGNQVFPEV TRLLTSHTGN TSNSEDILSS 660
ACYTVRNLMA SQPQLAKQYF SSSMLNNIIN LCRSSASPKA AEAARLLLSD MWSSKELQGV 720
LRQQGFDRNM LGTLAGANSL RNFTSRF 748

※ PTM-Disease Association

NumPTMDiseaseCell TypeTypePTM SitePMID
1Serine PhosphorylationBreast cancer/tumor/carcinomaMCF-7 cell linePS11823444369
[Reference]: PKP1 phosphorylation reduces intercellular adhesion and increases cell migration

※ Disease Cross-ref Annotation

DatabaseAnnotation
CTD (Curated)
(count: 2)
MESH:D006528 ; Carcinoma, Hepatocellular
MESH:C536183 ; Ectodermal Dysplasia-Skin Fragility Syndrome
HGMD
(count: 12)
(view all)
CD066691; Ectodermal dysplasia/skin fragility syndrome; Small deletions
CN973569; Ectodermal dysplasia/skin fragility syndrome; Gross insertions
CM993719; Ectodermal dysplasia/skin fragility syndrome; Missense/nonsense
CM971217; Ectodermal dysplasia/skin fragility syndrome; Missense/nonsense
CM087198; Ectodermal dysplasia/skin fragility syndrome; Missense/nonsense
CS993722; Ectodermal dysplasia/skin fragility syndrome; Splicing
GWASdb
(count: 6)
rs7517345; Response to taxane treatment (placlitaxel); lung cancer
rs16848229; Response to taxane treatment (placlitaxel); lung cancer
rs832174; Response to taxane treatment (placlitaxel); lung cancer
rs860554; Panic disorder; panic disorder
rs832147; Asthma; asthma
rs34626929; Triglycerides; coronary artery disease|lipid metabolism disorder|arteriosclerosis

※ PTM Sites

PTM Modification Sites
Phosphorylation
(count: 66)
(view all)
101       AGNGSWGYPIYNGTL     dbPAF
104       GSWGYPIYNGTLKRE     dbPAF
107       GYPIYNGTLKREPDN     dbPAF
118       EPDNRRFSSYSQMEN     dbPAF
119       PDNRRFSSYSQMENW     dbPAF
12        PLKTALAYECFQDQD     dbPAF

※ Protein-Protein Interaction

NetworkInteraction
ABSource