PHKA1 (phosphorylase kinase regulatory subunit alpha 1)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 5255
Gene name Phosphorylase kinase regulatory subunit alpha 1
Gene symbol PHKA1
Synonyms (NCBI Gene)
PHKA
Chromosome X
Chromosome location Xq13.1
Summary Phosphorylase kinase is a polymer of 16 subunits, four each of alpha, beta, gamma and delta. The alpha subunit includes the skeletal muscle and hepatic isoforms, and the skeletal muscle isoform is encoded by this gene. The beta subunit is the same in both
SNPs SNP information provided by dbSNP.
9
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (9)
SNP ID Visualize variation Clinical significance Consequence
rs137852546 C>A Pathogenic Coding sequence variant, non coding transcript variant, stop gained
rs137852547 T>A Pathogenic Coding sequence variant, non coding transcript variant, missense variant
rs137852548 C>T Pathogenic Coding sequence variant, non coding transcript variant, missense variant
rs373517016 C>G,T Pathogenic Splice donor variant
rs1064794973 T>A Likely-pathogenic Splice acceptor variant
miRNA miRNA information provided by mirtarbase database.
495
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (495)
miRTarBase ID miRNA Experiments Reference
MIRT023317 hsa-miR-122-5p Microarray 17612493
MIRT027122 hsa-miR-103a-3p Sequencing 20371350
MIRT027583 hsa-miR-98-5p Microarray 19088304
MIRT031657 hsa-miR-16-5p Sequencing 20371350
MIRT052023 hsa-let-7b-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
14
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (14)
GO ID Ontology Definition Evidence Reference
GO:0004689 Function Phosphorylase kinase activity IEA
GO:0004689 Function Phosphorylase kinase activity TAS 8226841
GO:0005515 Function Protein binding IPI 32296183
GO:0005516 Function Calmodulin binding IEA
GO:0005737 Component Cytoplasm IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
311870 8925 ENSG00000067177
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P46020
Protein name Phosphorylase b kinase regulatory subunit alpha, skeletal muscle isoform (Phosphorylase kinase alpha M subunit)
Protein function Phosphorylase b kinase catalyzes the phosphorylation of serine in certain substrates, including troponin I. The alpha chain may bind calmodulin.
PDB 8JFK , 8JFL , 8XY7 , 8XYA , 8XYB
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00723 Glyco_hydro_15 8 → 922 Glycosyl hydrolases family 15 Domain
Tissue specificity TISSUE SPECIFICITY: Muscle specific. Isoform 1 is predominant in vastus lateralis muscle. Isoform 2 predominates slightly in heart, and it predominates clearly in the other tissues tested.
Sequence 
MRSRSNSGVRLDGYARLVQQTILCHQNPVTGLLPASYDQKDAWVRDNVYSILAVWGLGLA
YRKNADRDEDKAKAYELEQSVVKLMRGLLHCMIRQVDKVESFKYSQSTKDSLHAKYNTKT
CATVVGDDQWGHLQLDATSVYLLFLAQMTASGLHIIHSLDEVNFIQNLVFYIEAAYKTAD
FGIWERGDKTNQGISELNASSVGMAKAALEALDELDLFGVKGGPQSVIHVLADEVQHCQS
ILNSLLPRASTSKEVDASLLSVVSFPAFAVEDSQLVELTKQEIITKLQGRYGCCRFLRDG
YKTPKEDPNRLYYEPAELKLFENIECEWPLFWTYFILDGVFSGNAEQVQEYKEALEAVLI
KGKNGVPLLPELYSVPPDRVDEEYQNPHTVDRVPMGKLPHMWGQSLYILGSLMAEGFLAP
GEIDPLNRRFSTVPKPDVVVQVSILAETEEIKTILKDKGIYVETIAEVYPIRVQPARILS
HIYSSLGCNNRMKLSGRPYRHMGVLGTSKLYDIRKTIFTFTPQFIDQQQFYLALDNKMIV
EMLRTDLSYLCSRWRMTGQPTITFPISHSMLDEDGTSLNSSILAALRKMQDGYFGGARVQ
TGKLSEFLTTSCCTHLSFMDPGPEGKLYSEDYDDNYDYLESGNWMNDYDSTSHARCGDEV
ARYLDHLLAHTAPHPKLAPTSQKGGLDRFQAAVQTTCDLMSLVTKAKELHVQNVHMYLPT
KLFQASRPSFNLLDSPHPRQENQVPSVRVEIHLPRDQSGEVDFKALVLQLKETSSLQEQA
DILYMLYTMKGPDWNTELYNERSATVRELLTELYGKVGEIRHWGLIRYISGILRKKVEAL
DEACTDLLSHQKHLTVGLPPEPREKTISAPLPYEALTQLIDEASEGDMSISILTQEIMVY
LAMYMRTQPGLFAEMFRLRIGLIIQVMATELAHSLRCSAEEATEGLMNLSPSAMKNLLHH
ILSGKEFGVERSVRPTDSNVSPAISIHEIGAVGATKTERTGIMQLKSEIKQVEFRRLSIS
AESQSPGTSMTPSSGSFPSAYDQQSSKDSRQGQWQRRRRLDGALNRVPVGFYQKVWKVLQ
KCHGLSVEGFVLPSSTTREMTPGEIKFSVHVESVLNRVPQPEYRQLLVEAILVLTMLADI
EIHSIGSIIAVEKIVHIANDLFLQEQKTLGADDTMLAKDPASGICTLLYDSAPSGRFGTM
TYLSKAAATYVQEFLPHSICAMQ
Sequence length 1223
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Calcium signaling pathway
Insulin signaling pathway
Glucagon signaling pathway 		  Glycogen breakdown (glycogenolysis)
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
15
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Causal Diseases (4)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Glycogen phosphorylase kinase deficiency Likely pathogenic; Pathogenic rs373517016, rs1256371424, rs1556257317 RCV003317255
RCV003317349
RCV002509551
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Glycogen storage disease IXd Pathogenic; Likely pathogenic rs2052776972, rs1197978742, rs2147779873, rs1157788242, rs2147766482, rs2147781328, rs2147747770, rs2522445049, rs2522850255, rs137852546, rs2522306478, rs137852547, rs1603266754, rs137852548, rs2522421362
View all (9 more)		 RCV001335961
RCV005635184
RCV001928354
RCV001876720
RCV002249127
View all (19 more)
★★★★★
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PHKA1-related disorder Likely pathogenic rs781902994 RCV003979325
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid cancer, nonmedullary, 1 Pathogenic; Likely pathogenic rs137852546, rs373517016, rs782062618 RCV005887413
RCV005901203
RCV005909312
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (11)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Adrenocortical carcinoma, hereditary Uncertain significance ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Uncertain significance ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma Benign; Likely benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Familial cancer of breast Benign; Likely benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (13)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Glycogen Storage Disease Glycogen Storage Disease BEFREE 1674721, 24326380
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Glycogen Storage Disease Glycogen storage disease Pubtator 22899091, 30659246 Associate
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Glycogen storage disease due to muscle phosphorylase kinase deficiency Glycogen Storage Disease Orphanet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Glycogen Storage Disease Type IXD Glycogen storage disease Pubtator 34615823 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Glycogen storage disease, type IX Glycogen Storage Disease BEFREE 15637709, 20080404, 24326380
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Glycogen Storage Disease, Type IXD Glycogen Storage Disease UNIPROT_DG 12825073
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Glycogen Storage Disease, Type IXD Glycogen Storage Disease GENOMICS_ENGLAND_DG 15637709, 27604308, 7874115
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Glycogen Storage Disease, Type IXD Glycogen Storage Disease CLINVAR_DG
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Glycogen Storage Disease, Type IXD Glycogen Storage Disease ORPHANET_DG
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Glycogen Storage Disease, Type IXD Glycogen Storage Disease CTD_human_DG
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations