Gene: Pkp1

Basic information

Tag Content
Uniprot ID P97350; B2RSX3;
Entrez ID 18772
Genbank protein ID AAI39042.1; AAI39043.1; CAA69240.1;
Genbank nucleotide ID NM_001313701.1; NM_019645.3;
Ensembl protein ID ENSMUSP00000027667; ENSMUSP00000128418;
Ensembl nucleotide ID ENSMUSG00000026413
Gene name Plakophilin-1
Gene symbol Pkp1
Organism Mus musculus
NCBI taxa ID 10090
Cleft type
Developmental stage
Data sources Homology search
Reference
Functional description Seems to play a role in junctional plaques.
Sequence
MNHSPLKTAL AYECFQDQDN STLALPSDQK MKTGTSGRQR VQEQVMMTVK RQKSKSSQSS 60
TLSHSNRGSM YDGLADNYNN YGTTSRSSYF SKFQAGNGSW GYPIYNGTLK REPDNRRFSS 120
YSQMENWSRH YPRGSCATPG AGSDICFMQK IKASRSEPDL YCDPRGTLRK GTLGSKGHKT 180
TQNRCSFYST CSGQKAVKKC PVRPPSCTSK QDPVYVPPIS CNKDLSFGHS RASSKICSED 240
IECSGLTIPK AVQYLCSQDE KYQAIGAYYI QHTCFQDESA KQQVYQLGGI CKLVDLLRSP 300
NQNVQQAAAG ALRNLVFRST PNKLETRRQN GIREAVSLLR RSGSTEIQKQ LTGLLWNLSS 360
TDELKEELVA DALPVLTDRV IIPFSGWCDG NSNMSREVVD PEVFFNATGC LRNLSSADAG 420
RQTMRNYSGL IDSLMAYVQN CVAASRCDDK SVENCMCILH NLSYRLDAEV PTRYRQLEYN 480
TRNAYTEKSS TGCFSNRGDK MMNNNYDCPL PEEETNPKGS SWLYHSDAIR TYLNLMGKSK 540
KDATLEACAG ALQNLTASKG LMSNGMSQLI GIKEKGLPQI ARLLQSGNSD VVRSGASLLS 600
NMSRHPVLHR VMGNQVFPEV TRLLTSHTGN TSNSEDILSS ACYTVRNLMT SQPQMAKQYF 660
SNSMLNNVFN LCRNTASSPK AAEAARLLLS DMWASKELQS VLRQQGFDRN MMGNIAGANN 720
LRNFTSRF 728

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation Gene symbol Entrez ID UniProt ID Cleft type Developmental stage Species Evidence Details
1:1 orthologPKP1A0A452FUQ9Capra hircusPredictionMore>>
1:1 orthologPKP15317Q13835Homo sapiensPublicationMore>>
1:1 orthologPkp118772P97350Mus musculusPredictionMore>>
1:1 orthologPKP1A0A2J8KHS3Pan troglodytesPredictionMore>>
1:1 orthologPKP1I3LGN8Sus scrofaPredictionMore>>
1:1 orthologPkp1304822D3ZY51Rattus norvegicusPredictionMore>>
1:1 orthologpkp1b797838E7FBR0Danio rerioPredictionMore>>

Identified variants/mutations related to cleft phenotype

Gene symbol Significant Variants/SNPS Methods PubMed ID
PKP1c.899A>C; p.N300TWES and Sanger sequencing26449438

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence
GO:0005515 protein bindingIPI
GO:0005521 lamin bindingISO
GO:0045296 cadherin bindingIBA

GO:Biological Process

GO ID GO Term Evidence
GO:0007043 cell-cell junction assemblyIBA
GO:0010628 positive regulation of gene expressionISO
GO:0045110 intermediate filament bundle assemblyISO
GO:0045110 intermediate filament bundle assemblyIBA
GO:0098609 cell-cell adhesionIBA
GO:1902373 negative regulation of mRNA catabolic processISO

GO:Cellular Component

GO ID GO Term Evidence
GO:0005634 nucleusIBA
GO:0005654 nucleoplasmISO
GO:0005737 cytoplasmIBA
GO:0005886 plasma membraneISO
GO:0005886 plasma membraneIBA
GO:0005911 cell-cell junctionIBA
GO:0005912 adherens junctionIBA
GO:0030057 desmosomeIDA
GO:1990124 messenger ribonucleoprotein complexISO

Reactome Pathway

Reactome ID Reactome Term Evidence
R-MMU-109581 ApoptosisIEA
R-MMU-111465 Apoptotic cleavage of cellular proteinsIEA
R-MMU-1266738 Developmental BiologyIEA
R-MMU-168249 Innate Immune SystemIEA
R-MMU-168256 Immune SystemIEA
R-MMU-351906 Apoptotic cleavage of cell adhesion proteinsIEA
R-MMU-5357801 Programmed Cell DeathIEA
R-MMU-6798695 Neutrophil degranulationIEA
R-MMU-6805567 KeratinizationIEA
R-MMU-6809371 Formation of the cornified envelopeIEA
R-MMU-75153 Apoptotic execution phaseIEA

Functional annotations

Keywords

Keyword ID Keyword Term
KW-0130 Cell adhesion
KW-0965 Cell junction
KW-0539 Nucleus
KW-0597 Phosphoprotein
KW-1185 Reference proteome
KW-0677 Repeat

Interpro

InterPro ID InterPro Term
IPR011989 ARM-like
IPR016024 ARM-type_fold
IPR000225 Armadillo
IPR028432 Plakophilin-1
IPR028435 Plakophilin/d_Catenin

PROSITE

PROSITE ID PROSITE Term
PS50176 ARM_REPEAT

Pfam

Pfam ID Pfam Term
PF00514 Arm

Protein-protein interaction

Protein-miRNA interaction