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Protein

Phosphorylase b kinase gamma catalytic chain, skeletal muscle/heart isoform

Gene

PHKG1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at transcript 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. In vitro, phosphorylates PYGM, TNNI3, MAPT/TAU, GAP43 and NRGN/RC3 (By similarity).By similarity

Catalytic activityi

2 ATP + phosphorylase b = 2 ADP + phosphorylase a.
ATP + [tau protein] = ADP + [tau protein] phosphate.
ATP + a protein = ADP + a phosphoprotein.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Binding sitei49ATPPROSITE-ProRule annotation1
Active sitei150Proton acceptorPROSITE-ProRule annotation1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi26 – 34ATPPROSITE-ProRule annotation9

GO - Molecular functioni

GO - Biological processi

Keywordsi

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

Enzyme and pathway databases

BioCyciMetaCyc:HS09136-MONOMER.
BRENDAi2.7.11.19. 2681.
ReactomeiR-HSA-70221. Glycogen breakdown (glycogenolysis).
SignaLinkiQ16816.
SIGNORiQ16816.

Names & Taxonomyi

Protein namesi
Recommended name:
Phosphorylase b kinase gamma catalytic chain, skeletal muscle/heart isoform (EC:2.7.11.19)
Short name:
PHK-gamma-M
Alternative name(s):
Phosphorylase kinase subunit gamma-1
Serine/threonine-protein kinase PHKG1 (EC:2.7.11.1, EC:2.7.11.26)
Gene namesi
Name:PHKG1
Synonyms:PHKG
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

HGNCiHGNC:8930. PHKG1.

Subcellular locationi

GO - Cellular componenti

Pathology & Biotechi

Organism-specific databases

DisGeNETi5260.
MalaCardsiPHKG1.
OpenTargetsiENSG00000164776.
Orphaneti715. Glycogen storage disease due to muscle phosphorylase kinase deficiency.
PharmGKBiPA33271.

Chemistry databases

ChEMBLiCHEMBL4004.
GuidetoPHARMACOLOGYi2145.

Polymorphism and mutation databases

BioMutaiPHKG1.
DMDMi2833281.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000865081 – 387Phosphorylase b kinase gamma catalytic chain, skeletal muscle/heart isoformAdd BLAST387

Proteomic databases

MaxQBiQ16816.
PaxDbiQ16816.
PeptideAtlasiQ16816.
PRIDEiQ16816.

PTM databases

iPTMnetiQ16816.
PhosphoSitePlusiQ16816.

Miscellaneous databases

PMAP-CutDBiQ16816.

Expressioni

Gene expression databases

BgeeiENSG00000164776.
CleanExiHS_PHKG1.
ExpressionAtlasiQ16816. baseline and differential.
GenevisibleiQ16816. HS.

Organism-specific databases

HPAiHPA012057.

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.

GO - Molecular functioni

Protein-protein interaction databases

BioGridi111278. 2 interactors.
STRINGi9606.ENSP00000297373.

Chemistry databases

BindingDBiQ16816.

Structurei

3D structure databases

ProteinModelPortaliQ16816.
SMRiQ16816.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini20 – 288Protein kinasePROSITE-ProRule annotationAdd BLAST269

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni303 – 327Calmodulin-binding (domain-N)Add BLAST25
Regioni343 – 367Calmodulin-binding (domain-C)Add BLAST25

Domaini

The two calmodulin-binding domains appear to act in concert to bind a single molecule of calmodulin and are pseudosubstrate/autoinhibitory domains.By similarity

Sequence similaritiesi

Phylogenomic databases

eggNOGiKOG0599. Eukaryota.
ENOG410Y7VX. LUCA.
GeneTreeiENSGT00840000129744.
HOVERGENiHBG106193.
InParanoidiQ16816.
KOiK00871.
OMAiQGFYENY.
OrthoDBiEOG091G07XZ.
PhylomeDBiQ16816.
TreeFamiTF320349.

Family and domain databases

InterProiView protein in InterPro
IPR020636. Ca/CaM-dep_Ca-dep_prot_Kinase.
IPR011009. Kinase-like_dom.
IPR002291. Phosph_kin_gamma.
IPR000719. Prot_kinase_dom.
IPR017441. Protein_kinase_ATP_BS.
IPR008271. Ser/Thr_kinase_AS.
PANTHERiPTHR24347. PTHR24347. 1 hit.
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

Isoform 1 (identifier: Q16816-1) [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
MTRDEALPDS HSAQDFYENY EPKEILGRGV SSVVRRCIHK PTSQEYAVKV
60 70 80 90 100
IDVTGGGSFS PEEVRELREA TLKEVDILRK VSGHPNIIQL KDTYETNTFF
110 120 130 140 150
FLVFDLMKRG ELFDYLTEKV TLSEKETRKI MRALLEVICT LHKLNIVHRD
160 170 180 190 200
LKPENILLDD NMNIKLTDFG FSCQLEPGER LREVCGTPSY LAPEIIECSM
210 220 230 240 250
NEDHPGYGKE VDMWSTGVIM YTLLAGSPPF WHRKQMLMLR MIMSGNYQFG
260 270 280 290 300
SPEWDDYSDT VKDLVSRFLV VQPQNRYTAE EALAHPFFQQ YLVEEVRHFS
310 320 330 340 350
PRGKFKVIAL TVLASVRIYY QYRRVKPVTR EIVIRDPYAL RPLRRLIDAY
360 370 380
AFRIYGHWVK KGQQQNRAAL FENTPKAVLL SLAEEDY
Length:387
Mass (Da):45,024
Last modified:January 23, 2007 - v3
Checksum:i9CB416CB683920AA
GO
Isoform 2 (identifier: Q16816-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     106-106: L → LWEDTDTMEMEQKWCLGWDSPKSTNFRAQGRAR

Note: No experimental confirmation available.
Show »
Length:419
Mass (Da):48,867
Checksum:i99429FF321971C5E
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti100F → L in BAH11466 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04099448V → M in a colorectal adenocarcinoma sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs368370244Ensembl.1
Natural variantiVAR_040995323R → C1 PublicationCorresponds to variant dbSNP:rs149458708Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_044716106L → LWEDTDTMEMEQKWCLGWDS PKSTNFRAQGRAR in isoform 2. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X80590 mRNA. Translation: CAA56681.1.
AF254253
, AF254250, AF254251, AF254252 Genomic DNA. Translation: AAL36972.1.
AK293180 mRNA. Translation: BAH11466.1.
AC092101 Genomic DNA. Translation: AAS07453.1.
CH471140 Genomic DNA. Translation: EAX07987.1.
BC051327 mRNA. Translation: AAH51327.1.
BC069679 mRNA. Translation: AAH69679.1.
BC069738 mRNA. Translation: AAH69738.1.
BC069754 mRNA. Translation: AAH69754.1.
BC074753 mRNA. Translation: AAH74753.1.
CCDSiCCDS5525.1. [Q16816-1]
CCDS59057.1. [Q16816-2]
RefSeqiNP_001245388.1. NM_001258459.1. [Q16816-2]
NP_006204.1. NM_006213.4. [Q16816-1]
UniGeneiHs.730821.

Genome annotation databases

EnsembliENST00000297373; ENSP00000297373; ENSG00000164776. [Q16816-1]
ENST00000452681; ENSP00000445440; ENSG00000164776. [Q16816-2]
GeneIDi5260.
KEGGihsa:5260.
UCSCiuc003trz.3. human. [Q16816-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiPHKG1_HUMAN
AccessioniPrimary (citable) accession number: Q16816
Secondary accession number(s): B7Z1D0, F5H2S1, Q75LP5
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: January 23, 2007
Last modified: August 30, 2017
This is version 172 of the entry and version 3 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

Complete proteome, Reference proteome

Documents

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