PRKCG protein kinase C gamma [Homo sapiens (human)] - Gene

Summary

Official Symbol: PRKCGprovided by HGNC
Official Full Name: protein kinase C gammaprovided by HGNC
Primary source: HGNC:HGNC:9402
See related: Ensembl:ENSG00000126583 MIM:176980; AllianceGenome:HGNC:9402
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: PKCC; PKCG; SCA14; PKCI(3); PKCgamma; PKC-gamma
Summary: Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and second messenger diacylglycerol. PKC family members phosphorylate a wide variety of protein targets and are known to be involved in diverse cellular signaling pathways. PKC also serve as major receptors for phorbol esters, a class of tumor promoters. Each member of the PKC family has a specific expression profile and is believed to play distinct roles in cells. The protein encoded by this gene is one of the PKC family members. This protein kinase is expressed solely in the brain and spinal cord and its localization is restricted to neurons. It has been demonstrated that several neuronal functions, including long term potentiation (LTP) and long term depression (LTD), specifically require this kinase. Knockout studies in mice also suggest that this kinase may be involved in neuropathic pain development. Defects in this protein have been associated with neurodegenerative disorder spinocerebellar ataxia-14 (SCA14). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]
Expression: Biased expression in brain (RPKM 15.6) and testis (RPKM 1.4) See more
Orthologs: mouse all
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Genomic context

Location:: 19q13.42

Exon count:: 20

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (53881094..53907652)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (56960799..56987358)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (54385451..54410906)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

AZU1 (HBP/CAP37) and PRKCG (PKC-gamma) may be candidate genes affecting the severity of acute mountain sickness.
Title: AZU1 (HBP/CAP37) and PRKCG (PKC-gamma) may be candidate genes affecting the severity of acute mountain sickness.
lncRNA IL-17RA-1 Attenuates LPS-Induced Sepsis via miR-7847-3p/PRKCG-Mediated MAPK Signaling Pathway.
Title: lncRNA IL-17RA-1 Attenuates LPS-Induced Sepsis via miR-7847-3p/PRKCG-Mediated MAPK Signaling Pathway.
Comparison of two families with and without ataxia harboring novel variants in PRKCG.
Title: Comparison of two families with and without ataxia harboring novel variants in PRKCG.
The Emerging Key Role of the mGluR1-PKCgamma Signaling Pathway in the Pathogenesis of Spinocerebellar Ataxias: A Neurodevelopmental Viewpoint.
Title: The Emerging Key Role of the mGluR1-PKCγ Signaling Pathway in the Pathogenesis of Spinocerebellar Ataxias: A Neurodevelopmental Viewpoint.
Episodic ataxia and severe infantile phenotype in spinocerebellar ataxia type 14: expansion of the phenotype and novel mutations.
Title: Episodic ataxia and severe infantile phenotype in spinocerebellar ataxia type 14: expansion of the phenotype and novel mutations.
Spinocerebellar ataxia type 14: refining clinicogenetic diagnosis in a rare adult-onset disorder.
Title: Spinocerebellar ataxia type 14: refining clinicogenetic diagnosis in a rare adult-onset disorder.
Dominant negative mechanism due to truncated peptides produced by p.R76X underlies spinocerebellar ataxia type 14. PKCgamma(R76X)-GFP inhibited PKC phosphorylation activity and caused apoptosis in neurons.
Title: Spinocerebellar ataxia type 14 caused by a nonsense mutation in the PRKCG gene.
This study presented one of the largest SCA14 cohorts of patients reported contributing with novel variants and supporting the distinct phenotype spectrum with specific cellular defects resulting from different types of PRKCG mutations.
Title: Genotype-phenotype correlations, dystonia and disease progression in spinocerebellar ataxia type 14.
This study demonstrated that a combination of both, loss-of-function and gain-of-function mechanisms are likely to underlie the pathogenesis of SCA14, caused by mutations in the C1 domain of PKCgamma
Title: Neurodegeneration in SCA14 is associated with increased PKCγ kinase activity, mislocalization and aggregation.
This review showed that the PKC Gamma signaling related genes and calcium signaling related genes then discuss their role for both Purkinje cell dendritic development and cerebellar ataxia.
Title: Calcium Signaling, PKC Gamma, IP3R1 and CAR8 Link Spinocerebellar Ataxias and Purkinje Cell Dendritic Development.

Submit: New GeneRIF Correction See all GeneRIFs (62)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Spinocerebellar ataxia type 14 MedGen: C1854369 OMIM: 605361 GeneReviews: Hereditary Ataxia Overview, Spinocerebellar Ataxia Type 14	not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	HIV-1 gp120 activates forward trafficking and surface clustering of NMDA receptors in membrane microdomains by a PKA-dependent phosphorylation of the NR1 C-terminal Ser897, followed by a PKC-dependent phosphorylation of Ser896	PubMed
	env	Down modulation of the interaction between HIV-1 gp120 and CD4 by TPA is blocked by protein kinase C (PKC) inhibitors, suggesting PKC may play an important role in HIV-1 infection	PubMed
	env	c-FLIPL inhibits Bax activation via modulating PKC expression at the transcriptional level involving AP-2 during gp120 treatment	PubMed
	env	Pre-treatment of endothelial cells with fibroblast growth factor 2 (FGF2) protects cells from HIV-1 gp120 angiotoxicity; this protection is regulated by crosstalk among the ERK, PI3K-AKT and PKC signaling pathways	PubMed
	env	HIV-1 gp120 increases the levels of calcium-dependent and -independent PKC isozymes; the most striking change is observed in PKC-zeta isozyme levels	PubMed
	env	Induction of apoptosis in cell cultures through binding of HIV-1 gp120 or gp160 to CXCR4 involves protein kinase C, basic fibroblast growth factor, caspase-3, and the pro-apoptotic molecule Bax	PubMed
	env	A specific interaction between CD4 and HIV-1 gp120 is required for phosphorylation of CD4, which could involve protein kinase C	PubMed
	env	IL-16 induces rapid translocation of PKC from the cytosol to the membrane in CD4+ cells; PKC inhibitors completely block IL-16-induced lymphocyte migration as well as the motile response induced by HIV-1 gp120 and anti-CD4 antibody binding to CD4	PubMed
Envelope surface glycoprotein gp160, precursor	env	HIV-1 gp160-induced AP-1 complex formation is dependent upon protein tyrosine phosphorylation and is abolished by inhibitors of protein kinase C, but it is unaffected by calcium channel blockers or cyclosporine A	PubMed
Envelope transmembrane glycoprotein gp41	env	A synthetic peptide corresponding to cytoplasmic domain residues 828-848 of HIV-1 gp41 inhibits pKC-catalysed phosphorylation of a protein substrate	PubMed
	env	A synthetic peptide containing residues 581-597 from HIV-1 gp41 inhibits protein kinase C (pkC)-mediated phosphorylation of the CD3 gamma-chain in intact cells and directly inhibits partially purified pkC	PubMed
Tat	tat	Phospholipase C/protein kinase C signaling pathway-dependent phosphorylation of p44/42 and JNK MAP kinases participates partially in IL-1beta induction by TAT	PubMed
	tat	Protein kinase C is required for HIV-1 Tat-mediated transactivation of the viral LTR promoter, indicating protein kinase C regulates the process of HIV-1 transactivation and may play a role in the transition of HIV from latency to productive growth	PubMed
	tat	Protein kinase C phosphorylates HIV-1 Tat on serine residue 46	PubMed
	tat	HIV-1 Tat activates protein kinase C, resulting in the induction of TNF-alpha, IL-6 and IL-10 expression and the secretion of MCP-1	PubMed
matrix	gag	Protein kinase C (PKC) phosphorylates HIV-1 Matrix on serine residue 111 resulting in a shift in localization of Matrix from the cytosol to the cellular membrane, suggesting a myristoyl-protein switch regulated by PKC phosphorylation	PubMed
retropepsin	gag-pol	Phosphorylation of human recombinant vimentin by PKC inhibits the proteolytic processing of the vimentin head domain by HIV-1 protease	PubMed
reverse transcriptase	gag-pol	HIV-1 RT heterodimer expressed in bacteria can be phosphorylated in vitro by several purified mammalian protein kinases including auto-activated protein kinase (PK), CKII, cytosolic protamine kinase (CPK), myelin basic protein kinase 1 (MBPK1), and PRKC	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

ECD09274 (e-PCR)
- UniSTS:290318

ECD15193 (e-PCR)
- UniSTS:296210

ECD18784 (e-PCR)
- UniSTS:299794

ECD12883 (e-PCR)
- UniSTS:293914

ECD17263 (e-PCR)
- UniSTS:298276

ECD21380 (e-PCR)
- UniSTS:302377

WI-20598 (e-PCR)
- UniSTS:52009

D8S2279 (e-PCR)
- UniSTS:473907

ECD11375 (e-PCR)
- UniSTS:292411

ECD05203 (e-PCR)
- UniSTS:286269

D19S206 (e-PCR), detects polymorphism
- UniSTS:13384

ECD03680 (e-PCR)
- UniSTS:284760

ECD21699 (e-PCR)
- UniSTS:302693

ECD13740 (e-PCR)
- UniSTS:294766

ECD21216 (e-PCR)
- UniSTS:302213

ECD15565 (e-PCR)
- UniSTS:296582

ECD23790 (e-PCR)
- UniSTS:304774

ECD09146 (e-PCR)
- UniSTS:290191

ECD23287 (e-PCR)
- UniSTS:304271

D19S605 (e-PCR), detects polymorphism
- UniSTS:65942

ECD08906 (e-PCR)
- UniSTS:289953

ECD07128 (e-PCR)
- UniSTS:288185

ECD16403 (e-PCR)
- UniSTS:297418

ECD21287 (e-PCR)
- UniSTS:302284

D19S926 (e-PCR)
- UniSTS:68569

ECD23376 (e-PCR)
- UniSTS:304360

ECD04606 (e-PCR)
- UniSTS:285678

PRKCG (e-PCR)
- UniSTS:266737

ECD22364 (e-PCR)
- UniSTS:303352

ECD13624 (e-PCR)
- UniSTS:294652

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables calcium,diacylglycerol-dependent serine/threonine kinase activity	IDA Inferred from Direct Assay more info	PubMed
enables diacylglycerol-dependent serine/threonine kinase activity	TAS Traceable Author Statement more info	PubMed
enables diacylglycerol-dependent, calcium-independent serine/threonine kinase activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein serine kinase activity	IEA Inferred from Electronic Annotation more info
enables protein serine/threonine kinase activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein serine/threonine/tyrosine kinase activity	IDA Inferred from Direct Assay more info	PubMed
enables zinc ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in chemical synaptic transmission	IEA Inferred from Electronic Annotation more info
involved_in chemosensory behavior	IEA Inferred from Electronic Annotation more info
involved_in innervation	IEA Inferred from Electronic Annotation more info
involved_in intracellular signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in learning or memory	IEA Inferred from Electronic Annotation more info
involved_in long-term synaptic potentiation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of neuron apoptotic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of proteasomal protein catabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of protein catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of protein ubiquitination	IDA Inferred from Direct Assay more info	PubMed
involved_in phospholipase C-activating G protein-coupled receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in phosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of mismatch repair	IDA Inferred from Direct Assay more info	PubMed
involved_in presynaptic modulation of chemical synaptic transmission	IEA Inferred from Electronic Annotation more info
involved_in protein phosphorylation	TAS Traceable Author Statement more info	PubMed
involved_in regulation of circadian rhythm	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of phagocytosis	IEA Inferred from Electronic Annotation more info
involved_in regulation of response to food	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of synaptic vesicle exocytosis	IEA Inferred from Electronic Annotation more info
involved_in response to morphine	ISS Inferred from Sequence or Structural Similarity more info
involved_in response to pain	ISS Inferred from Sequence or Structural Similarity more info
involved_in response to psychosocial stress	IEA Inferred from Electronic Annotation more info
involved_in response to toxic substance	IEA Inferred from Electronic Annotation more info
involved_in rhythmic process	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in calyx of Held	IEA Inferred from Electronic Annotation more info
located_in cell-cell junction	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISS Inferred from Sequence or Structural Similarity more info
located_in cytosol	TAS Traceable Author Statement more info
located_in dendrite	ISS Inferred from Sequence or Structural Similarity more info
located_in nucleus	IEA Inferred from Electronic Annotation more info
located_in perinuclear region of cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
is_active_in postsynaptic cytosol	TAS Traceable Author Statement more info	PubMed
located_in postsynaptic density	IEA Inferred from Electronic Annotation more info
located_in presynaptic cytosol	IEA Inferred from Electronic Annotation more info
located_in synaptic membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: protein kinase C gamma type

NP_001303258.1

EC 2.7.11.13

NP_002730.1

EC 2.7.11.13

XP_047295048.1

EC 2.7.11.13

XP_054177413.1

EC 2.7.11.13

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.

Genomic

NG_009114.1 RefSeqGene

Range

5001..30435

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_669

mRNA and Protein(s)

NM_001316329.2 → NP_001303258.1 protein kinase C gamma type isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1).

Source sequence(s)

AC008440, AK296434, AK312302, BC047876, DC318717

Consensus CDS

CCDS92683.1

UniProtKB/TrEMBL

A0A804HIU5, B7Z3W6

Related

ENSP00000507230.1, ENST00000682028.1

Conserved Domains (4) summary

cd04026
Location:158 → 289

C2_PKC_alpha_gamma; C2 domain in Protein Kinase C (PKC) alpha and gamma

smart00220
Location:351 → 614

S_TKc; Serine/Threonine protein kinases, catalytic domain

cd05587
Location:354 → 677

STKc_cPKC; Catalytic domain of the Serine/Threonine Kinase, Classical (or Conventional) Protein Kinase C

pfam00130
Location:101 → 153

C1_1; Phorbol esters/diacylglycerol binding domain (C1 domain)
NM_002739.5 → NP_002730.1 protein kinase C gamma type isoform 2

See identical proteins and their annotated locations for NP_002730.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 1.

Source sequence(s)

AC008440, BC047876, DC318717

Consensus CDS

CCDS12867.1

UniProtKB/Swiss-Prot

B7Z8Q0, P05129

UniProtKB/TrEMBL

B2R5T1

Related

ENSP00000263431.3, ENST00000263431.4

Conserved Domains (4) summary

cd04026
Location:158 → 289

C2_PKC_alpha_gamma; C2 domain in Protein Kinase C (PKC) alpha and gamma

smart00220
Location:351 → 614

S_TKc; Serine/Threonine protein kinases, catalytic domain

cd05587
Location:354 → 677

STKc_cPKC; Catalytic domain of the Serine/Threonine Kinase, Classical (or Conventional) Protein Kinase C

pfam00130
Location:101 → 153

C1_1; Phorbol esters/diacylglycerol binding domain (C1 domain)