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 Description | Seems 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 |
|
Database | Annotation |
---|---|
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 | 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 |
Network | Interaction | ||
---|---|---|---|
A | B | Source | |