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Aliases for PHKG1 Gene

Aliases for PHKG1 Gene

  • Phosphorylase Kinase Catalytic Subunit Gamma 1 2 3 5
  • Phosphorylase Kinase, Gamma 1 (Muscle) 2 3
  • Serine/Threonine-Protein Kinase PHKG1 3 4
  • Phosphorylase Kinase Subunit Gamma-1 3 4
  • EC 2.7.11.19 4 61
  • PHK-Gamma-M 3 4
  • PHKG 3 4
  • Phosphorylase B Kinase Gamma Catalytic Chain, Skeletal Muscle/Heart Isoform 3
  • Phosphorylase B Kinase Gamma Catalytic Chain, Skeletal Muscle Isoform 3
  • Phosphorylase Kinase Gamma Subunit 1 3
  • EC 2.7.11.26 4
  • EC 2.7.11.1 4
  • EC 2.7.11 61

External Ids for PHKG1 Gene

Previous HGNC Symbols for PHKG1 Gene

  • PHKG

Previous GeneCards Identifiers for PHKG1 Gene

  • GC07M055612
  • GC07M055856
  • GC07M055889
  • GC07M055922
  • GC07M056115
  • GC07M055962

Summaries for PHKG1 Gene

Entrez Gene Summary for PHKG1 Gene

  • This gene is a member of the Ser/Thr protein kinase family and encodes a protein with one protein kinase domain and two calmodulin-binding domains. This protein is the catalytic member of a 16 subunit protein kinase complex which contains equimolar ratios of 4 subunit types. The complex is a crucial glycogenolytic regulatory enzyme. This gene has two pseudogenes at chromosome 7q11.21 and one at chromosome 11p11.12. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]

GeneCards Summary for PHKG1 Gene

PHKG1 (Phosphorylase Kinase Catalytic Subunit Gamma 1) is a Protein Coding gene. Diseases associated with PHKG1 include Muscle Glycogenosis and Phosphorylase Kinase Deficiency. Among its related pathways are Glucose metabolism and Glycogen Metabolism. GO annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity. An important paralog of this gene is PHKG2.

UniProtKB/Swiss-Prot for PHKG1 Gene

  • Catalytic subunit of the phosphorylase b kinase (PHK), which mediates the neural and hormonal regulation of glycogen breakdown (glycogenolysis) by phosphorylating and thereby activating glycogen phosphorylase. In vitro, phosphorylates PYGM, TNNI3, MAPT/TAU, GAP43 and NRGN/RC3 (By similarity).

Gene Wiki entry for PHKG1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PHKG1 Gene

Genomics for PHKG1 Gene

Regulatory Elements for PHKG1 Gene

Enhancers for PHKG1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07G056004 1.3 Ensembl ENCODE 11.7 +85.7 85690 6.8 HDGF FOXA2 PKNOX1 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 NIPSNAP2 SUMF2 PHKG1 MRPS17 PSPHP1 ZNF713 NUPR2 PIR39528 PSPH
GH07G055999 1.2 Ensembl ENCODE 11.4 +93.2 93192 1.4 ELF3 PKNOX1 FOXA2 ATF1 MLX RARA ZNF121 MIXL1 THAP11 HMG20B NIPSNAP2 CHCHD2 PHKG1 MRPS17 SUMF2 PIR39528 PSPH
GH07G055996 1.1 ENCODE 11.4 +96.3 96270 1.4 HDGF FOXA2 CREB3L1 AGO1 ARID4B SIN3A DMAP1 YY1 ZNF143 ZNF207 NIPSNAP2 ZNF713 CHCHD2 MRPS17 PHKG1 PIR39528 PSPH
GH07G056059 1.1 ENCODE 11.4 +30.7 30713 6.2 HDGF CREB3L1 AGO1 ARID4B SIN3A DMAP1 YY1 ZNF143 FOS DEK NIPSNAP2 SUMF2 CHCHD2 PHKG1 PSPHP1 MRPS17 PSPH SNORA15
GH07G056027 0.9 ENCODE 11.5 +64.1 64078 3.2 ELF3 FOXA2 ZFP64 RARA YY1 TCF12 ZNF121 EGR1 FOS CREM CHCHD2 SUMF2 PHKG1 PSPHP1 NIPSNAP2 ZNF713 PSPH PIR39528
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PHKG1 on UCSC Golden Path with GeneCards custom track

Genomic Location for PHKG1 Gene

Chromosome:
7
Start:
56,080,283 bp from pter
End:
56,093,396 bp from pter
Size:
13,114 bases
Orientation:
Minus strand

Genomic View for PHKG1 Gene

Genes around PHKG1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PHKG1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PHKG1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PHKG1 Gene

Proteins for PHKG1 Gene

  • Protein details for PHKG1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q16816-PHKG1_HUMAN
    Recommended name:
    Phosphorylase b kinase gamma catalytic chain, skeletal muscle/heart isoform
    Protein Accession:
    Q16816
    Secondary Accessions:
    • B7Z1D0
    • F5H2S1
    • Q75LP5

    Protein attributes for PHKG1 Gene

    Size:
    387 amino acids
    Molecular mass:
    45024 Da
    Quaternary structure:
    • Hexadecamer of 4 heterotetramers, each composed of alpha, beta, gamma, and delta subunits. Alpha (PHKA1 or PHKA2) and beta (PHKB) are regulatory subunits, gamma (PHKG1 or PHKG2) is the catalytic subunit, and delta is calmodulin.

    Alternative splice isoforms for PHKG1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PHKG1 Gene

Selected DME Specific Peptides for PHKG1 Gene

Q16816:
  • HPGYGKEVD
  • VEEVRHFSPRGKFKVI
  • GYGKEVD
  • NIVHRDLKPENILLDD
  • LSEKETR
  • YGHWVKKG
  • IKLTDFG
  • GRGVSSVVRRC
  • YLAPEII
  • EYAVKVID
  • GELFDYLTEKV
  • MNIKLTDFGFSCQL
  • RDPYALR
  • FLVFDLM
  • RDLKPEN
  • QQNRAALF
  • TLLAGSPPFWHR
  • VHRDLKP
  • KPENILLD
  • IVHRDLK

Post-translational modifications for PHKG1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Abcam antibodies for PHKG1
  • Santa Cruz Biotechnology (SCBT) Antibodies for PHKG1

Domains & Families for PHKG1 Gene

Gene Families for PHKG1 Gene

Graphical View of Domain Structure for InterPro Entry

Q16816

UniProtKB/Swiss-Prot:

PHKG1_HUMAN :
  • The two calmodulin-binding domains appear to act in concert to bind a single molecule of calmodulin and are pseudosubstrate/autoinhibitory domains.
  • Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family.
Domain:
  • The two calmodulin-binding domains appear to act in concert to bind a single molecule of calmodulin and are pseudosubstrate/autoinhibitory domains.
Family:
  • Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family.
genes like me logo Genes that share domains with PHKG1: view

Function for PHKG1 Gene

Molecular function for PHKG1 Gene

GENATLAS Biochemistry:
phosphorylase kinase,isoform gamma 1,muscle,glycogen catabolism
UniProtKB/Swiss-Prot CatalyticActivity:
2 ATP + phosphorylase b = 2 ADP + phosphorylase a.
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + [tau protein] = ADP + [tau protein] phosphate.
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + a protein = ADP + a phosphoprotein.
UniProtKB/Swiss-Prot Function:
Catalytic subunit of the phosphorylase b kinase (PHK), which mediates the neural and hormonal regulation of glycogen breakdown (glycogenolysis) by phosphorylating and thereby activating glycogen phosphorylase. In vitro, phosphorylates PYGM, TNNI3, MAPT/TAU, GAP43 and NRGN/RC3 (By similarity).

Enzyme Numbers (IUBMB) for PHKG1 Gene

Gene Ontology (GO) - Molecular Function for PHKG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004672 protein kinase activity IEA --
GO:0004674 protein serine/threonine kinase activity IEA --
GO:0004689 phosphorylase kinase activity IEA,IBA --
GO:0005516 calmodulin binding IEA --
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with PHKG1: view
genes like me logo Genes that share phenotypes with PHKG1: view

Animal Model Products

  • Taconic Biosciences Mouse Models for PHKG1

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for PHKG1

Flow Cytometry Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PHKG1 Gene

Localization for PHKG1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PHKG1 gene
Compartment Confidence
cytosol 5
nucleus 2
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for PHKG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0005964 phosphorylase kinase complex IEA,IBA --
genes like me logo Genes that share ontologies with PHKG1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for PHKG1 Gene

Pathways & Interactions for PHKG1 Gene

genes like me logo Genes that share pathways with PHKG1: view

Gene Ontology (GO) - Biological Process for PHKG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process NAS 2297530
GO:0005977 glycogen metabolic process IBA,IEA --
GO:0005978 glycogen biosynthetic process IEA --
GO:0005980 glycogen catabolic process TAS --
GO:0006468 protein phosphorylation IEA --
genes like me logo Genes that share ontologies with PHKG1: view

No data available for SIGNOR curated interactions for PHKG1 Gene

Drugs & Compounds for PHKG1 Gene

(1) Drugs for PHKG1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine triphosphate Approved Nutra 0

(1) Additional Compounds for PHKG1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
genes like me logo Genes that share compounds with PHKG1: view

Transcripts for PHKG1 Gene

Unigene Clusters for PHKG1 Gene

Phosphorylase kinase, gamma 1 (muscle):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for PHKG1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PHKG1 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8
SP1: - - -
SP2: - - - - -
SP3: - -
SP4: - -
SP5:

Relevant External Links for PHKG1 Gene

GeneLoc Exon Structure for
PHKG1
ECgene alternative splicing isoforms for
PHKG1

Expression for PHKG1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PHKG1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PHKG1 Gene

This gene is overexpressed in Muscle - Skeletal (x22.8).

Protein differential expression in normal tissues from HIPED for PHKG1 Gene

This gene is overexpressed in Spinal cord (20.2), Frontal cortex (17.7), Heart (17.5), and Tonsil (12.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for PHKG1 Gene



Protein tissue co-expression partners for PHKG1 Gene

NURSA nuclear receptor signaling pathways regulating expression of PHKG1 Gene:

PHKG1

SOURCE GeneReport for Unigene cluster for PHKG1 Gene:

Hs.730821

Evidence on tissue expression from TISSUES for PHKG1 Gene

  • Muscle(4.5)
  • Adrenal gland(4)
  • Heart(2.4)
  • Nervous system(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PHKG1 Gene

Germ Layers:
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
genes like me logo Genes that share expression patterns with PHKG1: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for PHKG1 Gene

Orthologs for PHKG1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for PHKG1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PHKG1 34 35
  • 99.6 (n)
cow
(Bos Taurus)
Mammalia PHKG1 34 35
  • 90.96 (n)
dog
(Canis familiaris)
Mammalia PHKG1 34 35
  • 89.41 (n)
oppossum
(Monodelphis domestica)
Mammalia PHKG1 35
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Phkg1 34 16 35
  • 87.22 (n)
rat
(Rattus norvegicus)
Mammalia Phkg1 34
  • 87.13 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PHKG1 35
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves PHKG1 34 35
  • 80.09 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia phkg1 34
  • 70.75 (n)
African clawed frog
(Xenopus laevis)
Amphibia psph-A 34
zebrafish
(Danio rerio)
Actinopterygii phkg1b 35
  • 72 (a)
OneToMany
phkg1a 34 35
  • 70.04 (n)
fruit fly
(Drosophila melanogaster)
Insecta PhKgamma 36 35
  • 56 (a)
worm
(Caenorhabditis elegans)
Secernentea Y50D7A.3 35
  • 32 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DUN1 35
  • 20 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 52 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.14031 34
Species where no ortholog for PHKG1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PHKG1 Gene

ENSEMBL:
Gene Tree for PHKG1 (if available)
TreeFam:
Gene Tree for PHKG1 (if available)

Paralogs for PHKG1 Gene

Paralogs for PHKG1 Gene

genes like me logo Genes that share paralogs with PHKG1: view

Variants for PHKG1 Gene

Sequence variations from dbSNP and Humsavar for PHKG1 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs368370244 A colorectal adenocarcinoma sample 56,087,718(+) CTTCA(C/T)GGCGT intron-variant, nc-transcript-variant, reference, missense
rs1000339358 -- 56,094,278(+) GTACA(A/G)ATGGG upstream-variant-2KB
rs1000385302 -- 56,081,391(+) GCCAC(A/G)AAGCC intron-variant
rs1000650644 -- 56,079,652(+) GGGTC(A/G)CTGTC nc-transcript-variant, downstream-variant-500B, reference, synonymous-codon, utr-variant-3-prime
rs1000681720 -- 56,079,853(+) CTGTT(A/G)GAGGC nc-transcript-variant, downstream-variant-500B, reference, synonymous-codon, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for PHKG1 Gene

Variant ID Type Subtype PubMed ID
dgv1201e199 CNV deletion 23128226
esv2734447 CNV deletion 23290073
esv2734448 CNV deletion 23290073
esv2761334 CNV gain 21179565
esv28230 CNV gain+loss 19812545
esv3576357 CNV gain 25503493
esv3576358 CNV gain 25503493
esv3613248 CNV gain 21293372
esv3613258 CNV gain 21293372
esv3613259 CNV gain 21293372
esv3613260 CNV loss 21293372
nsv981475 CNV duplication 23825009

Variation tolerance for PHKG1 Gene

Residual Variation Intolerance Score: 70.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.87; 34.92% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PHKG1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PHKG1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PHKG1 Gene

Disorders for PHKG1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for PHKG1 Gene - From: Orphanet and GeneCards

Disorder Aliases PubMed IDs
muscle glycogenosis
  • glycogen storage disease, type ixd
phosphorylase kinase deficiency
  • glycogen storage disease type ix
- elite association - COSMIC cancer census association via MalaCards
Search PHKG1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for PHKG1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PHKG1
genes like me logo Genes that share disorders with PHKG1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PHKG1 Gene

Publications for PHKG1 Gene

  1. Human cDNA encoding the muscle isoform of the phosphorylase kinase gamma subunit (PHKG1). (PMID: 8530014) Wehner M. … Kilimann M.W. (Hum. Genet. 1995) 2 3 4 64
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  3. The DNA sequence of human chromosome 7. (PMID: 12853948) Hillier L.W. … Wilson R.K. (Nature 2003) 3 4 64
  4. In Silico characterization of phosphorylase kinase: evidence for an alternate intronic polyadenylation site in PHKG1. (PMID: 17692548) Winchester J.S. … Rice N.A. (Mol. Genet. Metab. 2007) 3 64
  5. Patterns of somatic mutation in human cancer genomes. (PMID: 17344846) Greenman C. … Stratton M.R. (Nature 2007) 4 64

Products for PHKG1 Gene

Sources for PHKG1 Gene

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