Gene: Pkdcc

Basic information

Tag Content
Uniprot ID Q5RJI4; B6F136; Q3UZD3; Q8VBZ6;
Entrez ID 106522
Genbank protein ID BAE21924.1; BAH66379.1; BAG82823.1; AAH86639.1; AAH22157.1;
Genbank nucleotide ID NM_134117.2; XM_011246234.1;
Ensembl protein ID ENSMUSP00000129238
Ensembl nucleotide ID ENSMUSG00000024247
Gene name Extracellular tyrosine-protein kinase PKDCC
Gene symbol Pkdcc
Organism Mus musculus
NCBI taxa ID 10090
Cleft type CPO
Developmental stage
Data sources Manually collected
Reference 19465597; 23792766; 19097194;
Functional description Secreted tyrosine-protein kinase that mediates phosphorylation of extracellular proteins and endogenous proteins in the secretory pathway, which is essential for patterning at organogenesis stages. Mediates phosphorylation of MMP1, MMP13, MMP14, MMP19 and ERP29 (PubMed:25171405). May also have serine/threonine protein kinase activity (PubMed:25171405). Required for longitudinal bone growth through regulation of chondrocyte differentiation (PubMed:19097194, PubMed:23792766). May be indirectly involved in protein transport from the Golgi apparatus to the plasma membrane (PubMed:19465597). Probably plays a role in platelets: rapidly and quantitatively secreted from platelets in response to stimulation of platelet degranulation (PubMed:25171405).
Sequence
MRRRRAAVAA GFCASFLLGS VLNVLFAPGS EPPRPGQSPG SSAAPGPGRR GGRGELARQI 60
RERYEEVQRY SRGGPGPGAG RPERRRLMDL APGGPGLQRP RPPRVRSPPD GAPGWPPAPG 120
PGSPGPGPRL GCAALRNVSG AQYVGSGYTK AVYRVRLPGG AAVALKAVDF SGHDLGSCVR 180
EFGARRGCYR LAAHKLLKEM VLLERLRHPN VLQLYGYCYQ DSEGIPDTLT TITELGAPVE 240
MIQLLQTSWE DRFRICLSLG RLLHHLAHSP LGSVTLLDFR PRQFVLVNGE LKVTDLDDAR 300
VEETPCTSSA DCTLEFPARN FSLPCSAQGW CEGMNEKRNL YNAYRFFFTY LLPHSAPPSL 360
RPLLDSIVNA TGELAWGVDE TLAQLETALH LFRSGQYLQN STSSRAEYQR IPDSAITQED 420
YRCWPSYHHG GCLLSVFNLA EAIDVCESHA QCRAFVVTNQ TTWTGRKLVF FKTGWNQVVP 480
DAGKTTYVKA PG 492

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 orthologPKDCC102177986A0A452E7H5Capra hircusPredictionMore>>
1:1 orthologPKDCC91461Q504Y2Homo sapiensPredictionMore>>
1:1 orthologPkdcc106522Q5RJI4CPOMus musculusPublicationMore>>
1:1 orthologPKDCCH2QHT1Pan troglodytesPredictionMore>>
1:1 orthologPKDCCF1S4U8Sus scrofaPredictionMore>>
1:1 orthologpkdccaF1QBU5Danio rerioPredictionMore>>

Other genetic variants/mutations

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Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence
GO:0004672 protein kinase activityIDA
GO:0004715 non-membrane spanning protein tyrosine kinase activityISO
GO:0004715 non-membrane spanning protein tyrosine kinase activityIDA
GO:0005524 ATP bindingIEA

GO:Biological Process

GO ID GO Term Evidence
GO:0001501 skeletal system developmentIMP
GO:0015031 protein transportIEA
GO:0018108 peptidyl-tyrosine phosphorylationISO
GO:0018108 peptidyl-tyrosine phosphorylationIDA
GO:0030154 cell differentiationIEA
GO:0030282 bone mineralizationIMP
GO:0030501 positive regulation of bone mineralizationIMP
GO:0032332 positive regulation of chondrocyte differentiationIMP
GO:0035108 limb morphogenesisIMP
GO:0035264 multicellular organism growthIMP
GO:0042997 negative regulation of Golgi to plasma membrane protein transportIDA
GO:0048286 lung alveolus developmentIMP
GO:0048566 embryonic digestive tract developmentIMP
GO:0060021 roof of mouth developmentIMP

GO:Cellular Component

GO ID GO Term Evidence
GO:0005576 extracellular regionISO
GO:0005576 extracellular regionIDA
GO:0005794 Golgi apparatusIDA

Reactome Pathway

Reactome ID Reactome Term Evidence

Functional annotations

Keywords

Keyword ID Keyword Term
KW-0025 Alternative splicing
KW-0067 ATP-binding
KW-0217 Developmental protein
KW-0221 Differentiation
KW-0325 Glycoprotein
KW-0333 Golgi apparatus
KW-0418 Kinase
KW-0547 Nucleotide-binding
KW-0892 Osteogenesis
KW-0597 Phosphoprotein
KW-0653 Protein transport
KW-1185 Reference proteome
KW-0964 Secreted
KW-0732 Signal
KW-0808 Transferase
KW-0813 Transport
KW-0829 Tyrosine-protein kinase

Interpro

InterPro ID InterPro Term
IPR022049 FAM69_kinase_dom
IPR011009 Kinase-like_dom_sf
IPR042983 PKDCC
IPR000719 Prot_kinase_dom

PROSITE

PROSITE ID PROSITE Term
PS50011 PROTEIN_KINASE_DOM

Pfam

Pfam ID Pfam Term
PF12260 PIP49_C

Protein-miRNA interaction