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Protein

Phosphorylase b kinase gamma catalytic chain, liver/testis isoform

Gene

PHKG2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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. May regulate glycogeneolysis in the testis. In vitro, phosphorylates PYGM (By similarity).By similarity1 Publication

Catalytic activityi

2 ATP + phosphorylase b = 2 ADP + phosphorylase a.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Binding sitei53ATPPROSITE-ProRule annotation1
Active sitei153Proton acceptorPROSITE-ProRule annotation1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi30 – 38ATPPROSITE-ProRule annotation9

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionCalmodulin-binding, Kinase, Serine/threonine-protein kinase, Transferase
Biological processCarbohydrate metabolism, Glycogen metabolism
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

BioCyciMetaCyc:HS08155-MONOMER
BRENDAi2.7.11.19 2681
ReactomeiR-HSA-70221 Glycogen breakdown (glycogenolysis)
SignaLinkiP15735

Names & Taxonomyi

Protein namesi
Recommended name:
Phosphorylase b kinase gamma catalytic chain, liver/testis isoform (EC:2.7.11.19)
Short name:
PHK-gamma-LT
Short name:
PHK-gamma-T
Alternative name(s):
PSK-C3
Phosphorylase kinase subunit gamma-2
Gene namesi
Name:PHKG2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 16

Organism-specific databases

EuPathDBiHostDB:ENSG00000156873.15
HGNCiHGNC:8931 PHKG2
MIMi172471 gene
neXtProtiNX_P15735

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Pathology & Biotechi

Involvement in diseasei

Glycogen storage disease 9C (GSD9C)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA metabolic disorder manifesting in infancy with hepatomegaly, growth retardation, hypotonia, liver dysfunction, and elevated plasma aminotransferases and lipids. These symptoms improve with age in most cases; however, some patients may develop hepatic fibrosis or cirrhosis.
See also OMIM:613027
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_009517106V → E in GSD9C. 1 PublicationCorresponds to variant dbSNP:rs137853589EnsemblClinVar.1
Natural variantiVAR_020854157E → K in GSD9C. 1 PublicationCorresponds to variant dbSNP:rs752961445Ensembl.1
Natural variantiVAR_009518189G → E in GSD9C. 1 PublicationCorresponds to variant dbSNP:rs137853588EnsemblClinVar.1
Natural variantiVAR_020855215D → N in GSD9C. 1 PublicationCorresponds to variant dbSNP:rs767427889Ensembl.1

Keywords - Diseasei

Disease mutation, Glycogen storage disease

Organism-specific databases

DisGeNETi5261
GeneReviewsiPHKG2
MalaCardsiPHKG2
MIMi613027 phenotype
OpenTargetsiENSG00000156873
Orphaneti264580 Glycogen storage disease due to liver phosphorylase kinase deficiency
PharmGKBiPA33272

Chemistry databases

ChEMBLiCHEMBL2349
GuidetoPHARMACOLOGYi2147

Polymorphism and mutation databases

BioMutaiPHKG2
DMDMi125536

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000865121 – 406Phosphorylase b kinase gamma catalytic chain, liver/testis isoformAdd BLAST406

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei345PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiP15735
MaxQBiP15735
PaxDbiP15735
PeptideAtlasiP15735
PRIDEiP15735
ProteomicsDBi53208
53209 [P15735-2]

PTM databases

iPTMnetiP15735
PhosphoSitePlusiP15735

Expressioni

Gene expression databases

BgeeiENSG00000156873 Expressed in 165 organ(s), highest expression level in right testis
CleanExiHS_PHKG2
ExpressionAtlasiP15735 baseline and differential
GenevisibleiP15735 HS

Organism-specific databases

HPAiHPA065618
HPA068751

Interactioni

Subunit structurei

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.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
PHKA2P460194EBI-1383819,EBI-1642846

GO - Molecular functioni

Protein-protein interaction databases

BioGridi111279, 59 interactors
IntActiP15735, 34 interactors
STRINGi9606.ENSP00000455607

Chemistry databases

BindingDBiP15735

Structurei

Secondary structure

1406
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliP15735
SMRiP15735
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini24 – 291Protein kinasePROSITE-ProRule annotationAdd BLAST268

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni306 – 330Calmodulin-binding (domain-N)By similarityAdd BLAST25
Regioni346 – 370Calmodulin-binding (domain-C)By similarityAdd BLAST25

Sequence similaritiesi

Phylogenomic databases

eggNOGiKOG0599 Eukaryota
ENOG410Y7VX LUCA
GeneTreeiENSGT00840000129744
HOGENOMiHOG000233016
HOVERGENiHBG106193
InParanoidiP15735
KOiK00871
PhylomeDBiP15735
TreeFamiTF320349

Family and domain databases

InterProiView protein in InterPro
IPR011009 Kinase-like_dom_sf
IPR002291 Phosph_kin_gamma
IPR000719 Prot_kinase_dom
IPR017441 Protein_kinase_ATP_BS
IPR008271 Ser/Thr_kinase_AS
PfamiView protein in Pfam
PF00069 Pkinase, 1 hit
PRINTSiPR01049 PHOSPHBKNASE
SMARTiView protein in SMART
SM00220 S_TKc, 1 hit
SUPFAMiSSF56112 SSF56112, 1 hit
PROSITEiView protein in PROSITE
PS00107 PROTEIN_KINASE_ATP, 1 hit
PS50011 PROTEIN_KINASE_DOM, 1 hit
PS00108 PROTEIN_KINASE_ST, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P15735-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MTLDVGPEDE LPDWAAAKEF YQKYDPKDVI GRGVSSVVRR CVHRATGHEF
60 70 80 90 100
AVKIMEVTAE RLSPEQLEEV REATRRETHI LRQVAGHPHI ITLIDSYESS
110 120 130 140 150
SFMFLVFDLM RKGELFDYLT EKVALSEKET RSIMRSLLEA VSFLHANNIV
160 170 180 190 200
HRDLKPENIL LDDNMQIRLS DFGFSCHLEP GEKLRELCGT PGYLAPEILK
210 220 230 240 250
CSMDETHPGY GKEVDLWACG VILFTLLAGS PPFWHRRQIL MLRMIMEGQY
260 270 280 290 300
QFSSPEWDDR SSTVKDLISR LLQVDPEARL TAEQALQHPF FERCEGSQPW
310 320 330 340 350
NLTPRQRFRV AVWTVLAAGR VALSTHRVRP LTKNALLRDP YALRSVRHLI
360 370 380 390 400
DNCAFRLYGH WVKKGEQQNR AALFQHRPPG PFPIMGPEEE GDSAAITEDE

AVLVLG
Length:406
Mass (Da):46,442
Last modified:April 1, 1990 - v1
Checksum:iE991CFF2D3D70F60
GO
Isoform 2 (identifier: P15735-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     362-374: VKKGEQQNRAALF → IRKQWIGKLMACV
     375-406: Missing.

Show »
Length:374
Mass (Da):43,158
Checksum:iD0E2416820A68AA7
GO

Computationally mapped potential isoform sequencesi

There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
J3KNN3J3KNN3_HUMAN
Phosphorylase b kinase gamma cataly...
PHKG2
410Annotation score:
H3BP07H3BP07_HUMAN
Phosphorylase b kinase gamma cataly...
PHKG2
254Annotation score:
H3BTW6H3BTW6_HUMAN
Phosphorylase b kinase gamma cataly...
PHKG2
266Annotation score:
H3BTI9H3BTI9_HUMAN
Phosphorylase b kinase gamma cataly...
PHKG2
80Annotation score:
H3BN16H3BN16_HUMAN
Phosphorylase b kinase gamma cataly...
PHKG2
87Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti146A → P in AAA36518 (PubMed:2948189).Curated1
Sequence conflicti176C → S in AAA36518 (PubMed:2948189).Curated1
Sequence conflicti179E → D in AAA36518 (PubMed:2948189).Curated1
Sequence conflicti212 – 214KEV → LVD in AAA36518 (PubMed:2948189).Curated3
Sequence conflicti221V → E in AAA36518 (PubMed:2948189).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_009517106V → E in GSD9C. 1 PublicationCorresponds to variant dbSNP:rs137853589EnsemblClinVar.1
Natural variantiVAR_020854157E → K in GSD9C. 1 PublicationCorresponds to variant dbSNP:rs752961445Ensembl.1
Natural variantiVAR_009518189G → E in GSD9C. 1 PublicationCorresponds to variant dbSNP:rs137853588EnsemblClinVar.1
Natural variantiVAR_020855215D → N in GSD9C. 1 PublicationCorresponds to variant dbSNP:rs767427889Ensembl.1
Natural variantiVAR_051658247E → G. Corresponds to variant dbSNP:rs34006569Ensembl.1
Natural variantiVAR_040996317A → T1 PublicationCorresponds to variant dbSNP:rs759992249Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_041858362 – 374VKKGE…RAALF → IRKQWIGKLMACV in isoform 2. 1 PublicationAdd BLAST13
Alternative sequenceiVSP_041859375 – 406Missing in isoform 2. 1 PublicationAdd BLAST32

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M31606 mRNA Translation: AAA36442.1
Y11950, Y11951 Genomic DNA Translation: CAA72694.1
AK289492 mRNA Translation: BAF82181.1
AK293551 mRNA Translation: BAG57028.1
AC106886 Genomic DNA No translation available.
BC002541 mRNA Translation: AAH02541.1
M14503 mRNA Translation: AAA36518.1
CCDSiCCDS10690.1 [P15735-1]
CCDS54002.1 [P15735-2]
PIRiA40069 KIHUCT
RefSeqiNP_000285.1, NM_000294.2 [P15735-1]
NP_001165903.1, NM_001172432.1 [P15735-2]
UniGeneiHs.65735

Genome annotation databases

EnsembliENST00000424889; ENSP00000388571; ENSG00000156873 [P15735-2]
ENST00000563588; ENSP00000455607; ENSG00000156873 [P15735-1]
GeneIDi5261
KEGGihsa:5261
UCSCiuc021tgo.3 human [P15735-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M31606 mRNA Translation: AAA36442.1
Y11950, Y11951 Genomic DNA Translation: CAA72694.1
AK289492 mRNA Translation: BAF82181.1
AK293551 mRNA Translation: BAG57028.1
AC106886 Genomic DNA No translation available.
BC002541 mRNA Translation: AAH02541.1
M14503 mRNA Translation: AAA36518.1
CCDSiCCDS10690.1 [P15735-1]
CCDS54002.1 [P15735-2]
PIRiA40069 KIHUCT
RefSeqiNP_000285.1, NM_000294.2 [P15735-1]
NP_001165903.1, NM_001172432.1 [P15735-2]
UniGeneiHs.65735

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2Y7JX-ray2.50A/B/C/D6-293[»]
ProteinModelPortaliP15735
SMRiP15735
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi111279, 59 interactors
IntActiP15735, 34 interactors
STRINGi9606.ENSP00000455607

Chemistry databases

BindingDBiP15735
ChEMBLiCHEMBL2349
GuidetoPHARMACOLOGYi2147

PTM databases

iPTMnetiP15735
PhosphoSitePlusiP15735

Polymorphism and mutation databases

BioMutaiPHKG2
DMDMi125536

Proteomic databases

EPDiP15735
MaxQBiP15735
PaxDbiP15735
PeptideAtlasiP15735
PRIDEiP15735
ProteomicsDBi53208
53209 [P15735-2]

Protocols and materials databases

DNASUi5261
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000424889; ENSP00000388571; ENSG00000156873 [P15735-2]
ENST00000563588; ENSP00000455607; ENSG00000156873 [P15735-1]
GeneIDi5261
KEGGihsa:5261
UCSCiuc021tgo.3 human [P15735-1]

Organism-specific databases

CTDi5261
DisGeNETi5261
EuPathDBiHostDB:ENSG00000156873.15
GeneCardsiPHKG2
GeneReviewsiPHKG2
HGNCiHGNC:8931 PHKG2
HPAiHPA065618
HPA068751
MalaCardsiPHKG2
MIMi172471 gene
613027 phenotype
neXtProtiNX_P15735
OpenTargetsiENSG00000156873
Orphaneti264580 Glycogen storage disease due to liver phosphorylase kinase deficiency
PharmGKBiPA33272
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0599 Eukaryota
ENOG410Y7VX LUCA
GeneTreeiENSGT00840000129744
HOGENOMiHOG000233016
HOVERGENiHBG106193
InParanoidiP15735
KOiK00871
PhylomeDBiP15735
TreeFamiTF320349

Enzyme and pathway databases

BioCyciMetaCyc:HS08155-MONOMER
BRENDAi2.7.11.19 2681
ReactomeiR-HSA-70221 Glycogen breakdown (glycogenolysis)
SignaLinkiP15735

Miscellaneous databases

ChiTaRSiPHKG2 human
GeneWikiiPHKG2
GenomeRNAii5261
PROiPR:P15735
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000156873 Expressed in 165 organ(s), highest expression level in right testis
CleanExiHS_PHKG2
ExpressionAtlasiP15735 baseline and differential
GenevisibleiP15735 HS

Family and domain databases

InterProiView protein in InterPro
IPR011009 Kinase-like_dom_sf
IPR002291 Phosph_kin_gamma
IPR000719 Prot_kinase_dom
IPR017441 Protein_kinase_ATP_BS
IPR008271 Ser/Thr_kinase_AS
PfamiView protein in Pfam
PF00069 Pkinase, 1 hit
PRINTSiPR01049 PHOSPHBKNASE
SMARTiView protein in SMART
SM00220 S_TKc, 1 hit
SUPFAMiSSF56112 SSF56112, 1 hit
PROSITEiView protein in PROSITE
PS00107 PROTEIN_KINASE_ATP, 1 hit
PS50011 PROTEIN_KINASE_DOM, 1 hit
PS00108 PROTEIN_KINASE_ST, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiPHKG2_HUMAN
AccessioniPrimary (citable) accession number: P15735
Secondary accession number(s): A8K0C7
, B4DEB7, E9PEU3, P11800
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 1, 1990
Last sequence update: April 1, 1990
Last modified: September 12, 2018
This is version 203 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  5. Human and mouse protein kinases
    Human and mouse protein kinases: classification and index
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  7. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
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Main funding by: National Institutes of Health

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