Pkdcc protein kinase domain containing, cytoplasmic [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Pkdccprovided by MGI
Official Full Name: protein kinase domain containing, cytoplasmicprovided by MGI
Primary source: MGI:MGI:2147077
See related: Ensembl:ENSMUSG00000024247 AllianceGenome:MGI:2147077
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Vlk; MAd1; Adtk1; ESTM17; Sgk493
Summary: Enables non-membrane spanning protein tyrosine kinase activity. Involved in several processes, including negative regulation of Golgi to plasma membrane protein transport; positive regulation of bone mineralization; and positive regulation of chondrocyte differentiation. Acts upstream of or within bone mineralization; limb morphogenesis; and skeletal system development. Located in Golgi apparatus and extracellular region. Is expressed in several structures, including alimentary system; arm; embryo ectoderm; embryo mesenchyme; and mesothelium. Orthologous to human PKDCC (protein kinase domain containing, cytoplasmic). [provided by Alliance of Genome Resources, Oct 2024]
Expression: Broad expression in adrenal adult (RPKM 165.4), ovary adult (RPKM 147.7) and 22 other tissues See more
Orthologs: human all
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Genomic context

Location:: 17 E4; 17 52.25 cM

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	17	NC_000083.7 (83522708..83532496)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	17	NC_000083.6 (83215283..83225069)

Chromosome 17 - NC_000083.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A common cis-regulatory variant impacts normal-range and disease-associated human facial shape through regulation of PKDCC during chondrogenesis.
Title: A common cis-regulatory variant impacts normal-range and disease-associated human facial shape through regulation of PKDCC during chondrogenesis.
The secreted tyrosine kinase VLK is essential for normal platelet activation and thrombus formation.
Title: The secreted tyrosine kinase VLK is essential for normal platelet activation and thrombus formation.
Taken together, these results suggest that Vlk may function as a signaling regulator in extracellular space to modulate the Hedgehog pathway
Title: Secreted tyrosine kinase Vlk negatively regulates Hedgehog signaling by inducing lysosomal degradation of Smoothened.
Study shows that VLK, a putative protein kinase previously shown to be essential in embryonic development, is a secreted protein kinase, with preference for tyrosine, that phosphorylates a broad range of secreted and endoplasmic reticulum-resident substrate proteins.
Title: A secreted tyrosine kinase acts in the extracellular environment.
VLK plays a role in the Indian hedgehog /GLI3 interactions and that Vlk and Gli3 cooperate to regulate long bone development
Title: The hedgehog target Vlk genetically interacts with Gli3 to regulate chondrocyte differentiation during mouse long bone development.
Adtk1 null mutants are smaller and present short limbs due to decreased mineralization, suggesting a potential role in chondrogenesis during limb development.
Title: Identification and functional analysis of novel genes expressed in the Anterior Visceral Endoderm.
Vlk is a novel vertebrate-specific PK that is involved in the regulation of the rate of protein export from the Golgi, thereby playing an important role in the formation of functional stroma by mesenchymal cells.
Title: The novel protein kinase Vlk is essential for stromal function of mesenchymal cells.
These data indicate that Pkdcc encodes a protein kinase that is required for the appropriate timing of flat proliferative chondrocytes differentiation.
Title: Short limbs, cleft palate, and delayed formation of flat proliferative chondrocytes in mice with targeted disruption of a putative protein kinase gene, Pkdcc (AW548124).

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (3)
Targeted (5) 1 citation

General gene information

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Markers

AW548124 (e-PCR)
- UniSTS:181070

RH135854 (e-PCR)
- UniSTS:209852

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables non-membrane spanning protein tyrosine kinase activity	IBA Inferred from Biological aspect of Ancestor more info
enables non-membrane spanning protein tyrosine kinase activity	IDA Inferred from Direct Assay more info	PubMed
enables non-membrane spanning protein tyrosine kinase activity	ISO Inferred from Sequence Orthology more info
enables protein kinase activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within bone mineralization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in embryonic digestive tract development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within limb morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in lung alveolus development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within multicellular organism growth	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of Golgi to plasma membrane protein transport	IDA Inferred from Direct Assay more info	PubMed
involved_in peptidyl-tyrosine phosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in peptidyl-tyrosine phosphorylation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of bone mineralization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of chondrocyte differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein transport	IEA Inferred from Electronic Annotation more info
involved_in roof of mouth development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in skeletal system development	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within skeletal system development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in skeletal system development	ISO Inferred from Sequence Orthology more info
involved_in skeletal system development	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in Golgi apparatus	IDA Inferred from Direct Assay more info	PubMed
is_active_in extracellular region	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular region	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular region	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: extracellular tyrosine-protein kinase PKDCC

Names: protein kinase domain-containing protein, cytoplasmic; protein kinase-like protein SgK493; sugen kinase 493; vertebrate lonesome kinase

NP_001401172.1

EC 2.7.10.2

NP_598878.2

EC 2.7.10.2

XP_011244536.1

EC 2.7.10.2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001414243.1 → NP_001401172.1 extracellular tyrosine-protein kinase PKDCC isoform 2

Status: VALIDATED

Source sequence(s)

AC122406
NM_134117.3 → NP_598878.2 extracellular tyrosine-protein kinase PKDCC isoform 1 precursor

See identical proteins and their annotated locations for NP_598878.2

Status: VALIDATED

Source sequence(s)

AC122406

Consensus CDS

CCDS28994.2

UniProtKB/Swiss-Prot

B6F136, Q3UZD3, Q5RJI4, Q8VBZ6

Related

ENSMUSP00000129238.2, ENSMUST00000170794.8

Conserved Domains (1) summary

cl21453
Location:200 → 370

PKc_like; Protein Kinases, catalytic domain