PHKA2
entrez
5256
canonical
uniprot
P46019
canonical
ensembl
ENSG00000044446
resolver
ensp
ENSP00000369274
resolver
ensp
ENSP00000567926
resolver
ensp
ENSP00000567927
resolver
ensp
ENSP00000567928
resolver
ensp
ENSP00000567929
resolver
ensp
ENSP00000567930
resolver
ensp
ENSP00000624786
resolver
ensp
ENSP00000624788
resolver
enst
ENST00000379942
resolver
genesymbol
PHKA2
resolver
genesymbol_syn
PHKLA
resolver
genesymbol_syn
PYK
resolver
hgnc
HGNC:8926
resolver
uniprot
A8K1T1
resolver
uniprot
Q6LAJ5
resolver
uniprot
Q7Z6W0
resolver
uniprot
Q96CR3
resolver
uniprot
Q9UDA1
resolver
uniprot_entry
KPB2_HUMAN
resolver
uniprot_sec
A8K1T1
resolver
uniprot_sec
Q6LAJ5
resolver
uniprot_sec
Q7Z6W0
resolver
uniprot_sec
Q96CR3
resolver
uniprot_sec
Q9UDA1
resolver
activity_regulation
ACTIVITY REGULATION: By phosphorylation of various serine residues and by calcium.
uniprot
proteins
amino_acid_sequence
MRSRSNSGVRLDGYARLVQQTILCYQNPVTGLLSASHEQKDAWVRDNIYSILAVWGLGMAYRKNADRDEDKAKAYELEQNVVKLMRGLLQCMMRQVAKVEKFKHTQSTKDSLHAKYNTATCGTVVGDDQWGHLQVDATSLFLLFLAQMTASGLRIIFTLDEVAFIQNLVFYIEAAYKVADYGMWERGDKTNQGIPELNASSVGMAKAALEAIDELDLFGAHGGRKSVIHVLPDEVEHCQSILFSMLPRASTSKEIDAGLLSIISFPAFAVEDVNLVNVTKNEIISKLQGRYGCCRFLRDGYKTPREDPNRLHYDPAELKLFENIECEWPVFWTYFIIDGVFSGDAVQVQEYREALEGILIRGKNGIRLVPELYAVPPNKVDEEYKNPHTVDRVPMGKVPHLWGQSLYILSSLLAEGFLAAGEIDPLNRRFSTSVKPDVVVQVTVLAENNHIKDLLRKHGVNVQSIADIHPIQVQPGRILSHIYAKLGRNKNMNLSGRPYRHIGVLGTSKLYVIRNQIFTFTPQFTDQHHFYLALDNEMIVEMLRIELAYLCTCWRMTGRPTLTFPISRTMLTNDGSDIHSAVLSTIRKLEDGYFGGARVKLGNLSEFLTTSFYTYLTFLDPDCDEKLFDNASEGTFSPDSDSDLVGYLEDTCNQESQDELDHYINHLLQSTSLRSYLPPLCKNTEDRHVFSAIHSTRDILSVMAKAKGLEVPFVPMTLPTKVLSAHRKSLNLVDSPQPLLEKVPESDFQWPRDDHGDVDCEKLVEQLKDCSNLQDQADILYILYVIKGPSWDTNLSGQHGVTVQNLLGELYGKAGLNQEWGLIRYISGLLRKKVEVLAEACTDLLSHQKQLTVGLPPEPREKIISAPLPPEELTKLIYEASGQDISIAVLTQEIVVYLAMYVRAQPSLFVEMLRLRIGLIIQVMATELARSLNCSGEEASESLMNLSPFDMKNLLHHILSGKEFGVERSVRPIHSSTSSPTISIHEVGHTGVTKTERSGINRLRSEMKQMTRRFSADEQFFSVGQAASSSAHSSKSARSSTPSSPTGTSSSDSGGHHIGWGERQGQWLRRRRLDGAINRVPVGFYQRVWKILQKCHGLSIDGYVLPSSTTREMTPHEIKFAVHVESVLNRVPQPEYRQLLVEAIMVLTLLSDTEMTSIGGIIHVDQIVQMASQLFLQDQVSIGAMDTLEKDQATGICHFFYDSAPSGAYGTMTYLTRAVASYLQELLPNSGCQMQ
uniprot
proteins
disease_involvement
DISEASE: Glycogen storage disease 9A (GSD9A) [MIM:306000]: A metabolic disorder resulting in a mild liver glycogenosis with clinical symptoms that include hepatomegaly, growth retardation, muscle weakness, elevation of glutamate-pyruvate transaminase and glutamate-oxaloacetate transaminase, hypercholesterolemia, hypertriglyceridemia, and fasting hyperketosis. Two subtypes are known: type 1 or classic type with no phosphorylase kinase activity in liver or erythrocytes, and type 2 or variant type with no phosphorylase kinase activity in liver, but normal activity in erythrocytes. Unlike other glycogenosis diseases, glycogen storage disease type 9A is generally a benign condition. Patients improve with age and are often asymptomatic as adults. Accurate diagnosis is therefore also of prognostic interest. {ECO:0000269|PubMed:10330341, ECO:0000269|PubMed:17689125, ECO:0000269|PubMed:7549948, ECO:0000269|PubMed:7847371, ECO:0000269|PubMed:8733133, ECO:0000269|PubMed:8733134, ECO:0000269|PubMed:9600238}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Phosphorylase b kinase catalyzes the phosphorylation of serine in certain substrates, including troponin I. The alpha chain may bind calmodulin.
uniprot
proteins
mass_dalton
138408
uniprot
proteins
pathway_participation
PATHWAY: Glycan biosynthesis; glycogen metabolism.
uniprot
proteins
post_translational_modification
PTM: Although the final Cys may be farnesylated, the terminal tripeptide is probably not removed, and the C-terminus is not methylated. {ECO:0000250|UniProtKB:P18688}.
uniprot
proteins
protein_family
Phosphorylase b kinase regulatory chain family
uniprot
proteins
pubmed
10330341
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15772651
uniprot
proteins
pubmed
17689125
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
18691976
uniprot
proteins
pubmed
19369195
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
7549948
uniprot
proteins
pubmed
7847371
uniprot
proteins
pubmed
8226841
uniprot
proteins
pubmed
8518797
uniprot
proteins
pubmed
8733133
uniprot
proteins
pubmed
8733134
uniprot
proteins
pubmed
9600238
uniprot
proteins
sequence_length
1235
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000305}; Lipid-anchor {ECO:0000305}; Cytoplasmic side {ECO:0000305}.
uniprot
proteins