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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

PHKA1 Gene

protein-coding GIFtS: 63
GCID: GC0XM071715

Phosphorylase Kinase, Alpha 1 (Muscle)

(Previous symbol: PHKA)

See related diseases
at

MalaCards

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
About This Section

Aliases
Phosphorylase Kinase, Alpha 1 (Muscle)¹ ²
PHKA¹ ² ³
Phosphorylase Kinase Alpha M Subunit² ³
Phosphorylase B Kinase Regulatory Subunit Alpha Skeletal Muscle Isoform²
Phosphorylase B Kinase Regulatory Subunit Alpha, Skeletal Muscle Isoform²
Phosphorylase Kinase, Alpha 1 (Muscle), Muscle Glycogenosis²

External Ids:	HGNC: 8925¹	Entrez Gene: 5255²	Ensembl: ENSG00000067177⁷	OMIM: 311870⁵	UniProtKB: P46020³

Export aliases for PHKA1 gene to outside databases

Previous GC identifers: GC0XM067527 GC0XM069035 GC0XM070033 GC0XM070667 GC0XM071583 GC0XM065553

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for PHKA1 Gene:

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 the muscle and hepatic isoforms, and encoded by one gene. The gamma subunit also

includes the skeletal muscle and hepatic isoforms, which are encoded by two different genes. The delta subunit is

a calmodulin and can be encoded by three different genes. The gamma subunits contain the active site of the

enzyme, whereas the alpha and beta subunits have regulatory functions controlled by phosphorylation. The delta

subunit mediates the dependence of the enzyme on calcium concentration. Mutations in this gene cause glycogen

storage disease type 9D, also known as X-linked muscle glycogenosis. Alternatively spliced transcript variants

encoding different isoforms have been identified in this gene. A pseudogene has been found on chromosome

1.(provided by RefSeq, Feb 2010)

GeneCards Summary for PHKA1 Gene:

PHKA1 (phosphorylase kinase, alpha 1 (muscle)) is a protein-coding gene. Diseases associated with PHKA1 include muscle glycogenosis, and muscle phosphorylase kinase deficiency, and among its related super-pathways are Glycogen Metabolism and Activation of cAMP-Dependent PKA. GO annotations related to this gene include phosphorylase kinase activity and calmodulin binding. An important paralog of this gene is PHKA2.

UniProtKB/Swiss-Prot: KPB1_HUMAN, P46020

Function: Phosphorylase b kinase catalyzes the phosphorylation of serine in certain substrates, including troponin

I. The alpha chain may bind calmodulin

Gene Wiki entry for PHKA1 (Phosphorylase kinase, alpha 1) Gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000023.10 NT_011669.17 NC_018934.2

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the PHKA1 gene promoter:
HOXA9 HOXA9B GATA-3 Pax-6 MIF-1 GATA-2 GATA-1 PPAR-gamma1 PPAR-gamma2 Meis-1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: PHKA1 promoter sequence

Search SABiosciences Chromatin IP Primers for PHKA1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PHKA1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xq12-q13 Ensembl cytogenetic band: Xq13.2 HGNC cytogenetic band: Xq12-q13

PHKA1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PHKA1 gene location

GeneLoc information about chromosome X GeneLoc Exon Structure

GeneLoc location for GC0XM071715: view genomic region (about GC identifiers)

Start:	71,798,664 bp from pter	End:	71,934,167 bp from pter
Size:	135,504 bases	Orientation:	minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: KPB1_HUMAN, P46020 (See protein sequence)

Recommended Name: Phosphorylase b kinase regulatory subunit alpha, skeletal muscle isoform

Size: 1223 amino acids; 137312 Da

Subunit: 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

Subcellular location: Cell membrane; Lipid-anchor; Cytoplasmic side (Potential)

Secondary accessions: B7ZL05 B7ZL07 Q2M3D7

Alternative splicing: 3 isoforms: P46020-1 P46020-2 P46020-3

Explore the universe of human proteins at neXtProt for PHKA1: NX_P46020

Explore proteomics data for PHKA1 at MOPED

Post-translational modifications:

UniProtKB: Although the final Cys may be farnesylated, the terminal tripeptide is probably not removed, and the C-terminus is

not methylated (By similarity)

View modification sites using PhosphoSitePlus

View neXtProt modification sites for NX_P46020

PHKA1 Protein expression data from MOPED¹, PaxDb² and MAXQB³ : About this image

REFSEQ proteins (3 alternative transcripts):

NP_001116142.1 NP_001165907.1 NP_002628.2

ENSEMBL proteins:

ENSP00000362643 ENSP00000362646 ENSP00000362640 ENSP00000342469 ENSP00000441251

Reactome Protein details: P46020
Human Recombinant Protein Products for PHKA1:

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	Browse Sino Biological Recombinant Proteins Browse Sino Biological Cell Lysates
	Browse ProSpec Recombinant Proteins
	Browse Proteins at Cloud-Clone Corp.

Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005829	cytosol	TAS	--
GO:0005886	plasma membrane	IEA	--

PHKA1 for ontologies About GeneDecksing

PHKA1 Antibody Products:

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

4 InterPro protein domains:

IPR008734 PHK_A/B_su

IPR011613 Glyco_hydro_15

IPR012341 6hp_glycosidase

IPR008928 6-hairpin_glycosidase-like

Graphical View of Domain Structure for InterPro Entry P46020

ProtoNet protein and cluster: P46020

1 Blocks protein domain: IPB008734 Phosphorylase kinase alphabeta

UniProtKB/Swiss-Prot: KPB1_HUMAN, P46020

Similarity: Belongs to the phosphorylase b kinase regulatory chain family

PHKA1 for domains About GeneDecksing

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: KPB1_HUMAN, P46020

Function: Phosphorylase b kinase catalyzes the phosphorylation of serine in certain substrates, including troponin

I. The alpha chain may bind calmodulin

Enzyme regulation: By phosphorylation of various serine residues. Allosteric regulation by calcium

Genatlas biochemistry entry for PHKA1:

phosphorylase kinase,alpha 1 subunit,muscle,glycogen catabolism

Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003824	catalytic activity	--	--
GO:0004553	hydrolase activity, hydrolyzing O-glycosyl compounds	IEA	--
GO:0004689	phosphorylase kinase activity	TAS	8226841
GO:0005516	calmodulin binding	IEA	--

PHKA1 for ontologies About GeneDecksing

Phenotypes:
2 GenomeRNAi human phenotypes for PHKA1:

Increased HPV18 LCR reporter a

Upregulation of Wnt/beta-caten

2 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Phka1):

homeostasis/metabolism

muscle

PHKA1 for phenotypes About GeneDecksing

Animal Models:

inGenious Targeting Laboratory - Custom generated mouse model solutions for PHKA1

inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for PHKA1

genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PHKA1

genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PHKA1

miRNA Products:		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PHKA1
		8/39 QIAGEN miScript miRNA Assays for microRNAs that regulate PHKA1 (see all 39):
		hsa-miR-302d hsa-miR-520e hsa-miR-520f hsa-miR-136 hsa-miR-15a hsa-miR-372 hsa-miR-124 hsa-miR-424

		SwitchGear 3'UTR luciferase reporter plasmid: PHKA1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene clones in human, mouse for PHKA1 (see all 15) OriGene ORF clones in mouse, rat for PHKA1 OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 3): PHKA1 (NM_002637)
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Cell Line Products:		GenScript Custom overexpressing Cell Line Services for PHKA1
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PHKA1

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
About This Section

SuperPaths for PHKA1 About (see all 10)

See pathways by source

SuperPath

Contained pathways About

Glycogen breakdown (glycogenolysis)

Glycogen breakdown (glycogenolysis)

0.34

Glycogen Metabolism

0.34

Activation of cAMP-Dependent PKA

	Activation of cAMP-Dependent PKA	0.77			PKA Signaling	0.56
	cAMP Pathway	0.77

Glucose metabolism

Glucose metabolism

0.50

MPS IIIC - Sanfilippo syndrome C

Metabolism of carbohydrates

0.48

Signal transduction cAMP signaling

Signal transduction cAMP signaling

0.44

Pathways by source See SuperPaths
Show all pathways

2 EMD Millipore Pathways for PHKA1

	Development Beta-adrenergic receptors signaling via cAMP
	Signal transduction cAMP signaling

4 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for PHKA1

	PKA Signaling
	cAMP Pathway
	Activation of cAMP-Dependent PKA
	Alpha-Adrenergic Signaling

2 GeneGo (Thomson Reuters) Pathways for PHKA1

	Development Beta-adrenergic receptors signaling via cAMP
	Signal transduction cAMP signaling

1 BioSystems Pathway for PHKA1

Glycogen Metabolism

4 Reactome Pathways for PHKA1

	Metabolism of carbohydrates
	Glycogen breakdown (glycogenolysis)
	Metabolism
	Glucose metabolism

2 Kegg Pathways (Kegg details for PHKA1):

	Calcium signaling pathway
	Insulin signaling pathway

UniProtKB/Swiss-Prot: KPB1_HUMAN, P46020

Pathway: Glycan biosynthesis; glycogen metabolism

PHKA1 for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for PHKA1

STRING Interaction Network Preview (showing 5 interactants - click image to see 23)

5/23 Interacting proteins for PHKA1 (P46020³ ENSP00000362643⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 23)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
PRKACA	P17612³, ENSP00000309591⁴	I2D: score=1 STRING: ENSP00000309591
PHKG1	ENSP00000297373⁴	STRING: ENSP00000297373
PYGB	ENSP00000216962⁴	STRING: ENSP00000216962
PYGM	ENSP00000164139⁴	STRING: ENSP00000164139
GYG1	ENSP00000340736⁴	STRING: ENSP00000340736

About this table

Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005975	carbohydrate metabolic process	TAS	--
GO:0005976	polysaccharide metabolic process	--	--
GO:0005977	glycogen metabolic process	TAS	7874115
GO:0005980	glycogen catabolic process	TAS	--
GO:0006006	glucose metabolic process	TAS	--

PHKA1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for PHKA1 (KPB1)

1 HMDB Compound for PHKA1 About this table

Compound	Synonyms	CAS #	PubMed Ids
Calcium	Ca (see all 2)	7440-70-2	--

Search CenterWatch for drugs/clinical trials and news about PHKA1 / KPB1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for PHKA1 gene (3 alternative transcripts):

NM_001122670.1 NM_001172436.1 NM_002637.3

Unigene Cluster for PHKA1:

Phosphorylase kinase, alpha 1 (muscle)

Hs.201379 [show with all ESTs]

Unigene Representative Sequence: NM_002637

5 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000373542(uc010nll.3) ENST00000373545(uc011mqi.2) ENST00000373539

ENST00000339490(uc004eax.4 uc004eay.4) ENST00000541944

miRNA Products:		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PHKA1
		8/39 QIAGEN miScript miRNA Assays for microRNAs that regulate PHKA1 (see all 39):
		hsa-miR-302d hsa-miR-520e hsa-miR-520f hsa-miR-136 hsa-miR-15a hsa-miR-372 hsa-miR-124 hsa-miR-424

		SwitchGear 3'UTR luciferase reporter plasmid: PHKA1 3' UTR sequence

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Clone Products:		OriGene clones in human, mouse for PHKA1 (see all 15) OriGene ORF clones in mouse, rat for PHKA1 OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PHKA1

Additional mRNA sequence:

BC104944.1 BC143499.1 BC143501.1 BX647542.1 X73874.1 X73878.1

5 DOTS entries:

DT.211310 DT.310007 DT.91748065 DT.121295709 DT.99965577

24/91 AceView cDNA sequences (see all 91):

BF222834 CK821186 BI963942 BX647542 X73878 AU125639 BI964104 BX116981

BQ576295 BX950979 AA247817 BE619283 AU125725 AA719684 R30663 BM824020

BX113174 AA989233 AI524313 AL699144 AA582145 BX499537 AW833974 BF475654

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

PHKA1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: TCTGGTGCCA

About this image

See PHKA1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for PHKA1

SOURCE GeneReport for Unigene cluster: Hs.201379

UniProtKB/Swiss-Prot: KPB1_HUMAN, P46020

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

SABiosciences Expression via Pathway-Focused PCR Array including PHKA1:

Glucose Metabolism in human mouse rat

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PHKA1

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for PHKA1 gene from 7/14 species (see all 14) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Phka1^{1 , 5}	phosphorylase kinase alpha 1^{1, 5}	91.39(n)¹ 94.85(a)¹		X (45.47 cM)⁵ 18679¹ NM_008832.2¹ NP_032858.2¹ 102513975⁵
chicken (Gallus gallus)	Aves	PHKA1¹	phosphorylase kinase, alpha 1 (muscle)	72.95(n) 78.6(a)		422181 XM_003641090.1 XP_003641138.1
lizard (Anolis carolinensis)	Reptilia	-- PHKA1⁶	phosphorylase kinase, alpha 1 (muscle)	90(a) 68(a)	possible ortholog 1 ↔ 1	GL344585.1(21-12440) GL343686.1(255036-268943)
African clawed frog (Xenopus laevis)	Amphibia	Xl.31944²	Xenopus laevis transcribed sequence with weak similarity more	75.89(n)		CF522108.1
zebrafish (Danio rerio)	Actinopterygii	wufl37h01²	wufl37h01	72.05(n)		386818 57093902
fruit fly (Drosophila melanogaster)	Insecta	CG7766³	phosphorylase kinase, regulator	45(a)		--
worm (Caenorhabditis elegans)	Secernentea	C14B9.8³	Phosphorylase kinase	40(a)		III(8211651-8216537) --

ENSEMBL Gene Tree for PHKA1 (if available)
TreeFam Gene Tree for PHKA1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for PHKA1 gene

PHKA2² PHKB²

2 SIMAP similar genes for PHKA1 using alignment to 3 protein entries: KPB1_HUMAN (see all proteins):

PHKA2 PHKB

PHKA1 for paralogs About GeneDecksing

1 Pseudogenes.org Pseudogene for PHKA1
PGOHUM00000244096

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr X pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
VAR_020856⁴		Glycogen storage disease 9D (GSD9D)⁴	--	see VAR_020856	2	D V	mis⁴		0	--	--	--	--
rs186195357^1,2		--	71803968(+)	`GGTGGC/TGCATG`	3	--	ds500¹		0	--	--	--	--
rs189002772^1,2		--	71804181(+)	`AAAATA/GTTCCC`	3	--	ds500¹		0	--	--	--	--
rs182287866^1,2		--	71804811(+)	`TAAAAA/GTGACC`	3	--	ut3¹		0	--	--	--	--
rs138901379^1,2		--	71804895(+)	`CTGTCA/CTCTCT`	3	--	ut3¹		0	--	--	--	--
rs187366909^1,2		--	71805078(+)	`GTAGGA/GAGTTA`	3	--	ut3¹		0	--	--	--	--
rs142925152^1,2	C	--	71805248(+)	`TCACAC/TCCCTT`	3	--	ut3¹		0	--	--	--	--
rs190794568^1,2		--	71805366(+)	`ACACAC/TACACA`	3	--	ut3¹		0	--	--	--	--
rs182643550^1,2		--	71805745(+)	`ATTCCC/TTCTCT`	3	--	ut3¹		0	--	--	--	--
rs144538626^1,2		--	71805819(+)	`GCTCCA/GGGCTC`	3	--	ut3¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for PHKA1 (71798664 - 71934167 bp)

Structural Variations
Database of Genomic Variants (DGV) 1 variation for PHKA1: About this table

Variant ID	Type	Subtype	PubMed ID
esv2663199	CNV	Deletion	23128226

Human Gene Mutation Database (HGMD): PHKA1

Locus Specific Mutation Databases (LSDB): PHKA1

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 311870
OMIM disorders: 300559
UniProtKB/Swiss-Prot: KPB1_HUMAN, P46020

Glycogen storage disease 9D (GSD9D) [MIM:300559]: A metabolic disorder characterized by slowly

progressive, predominantly distal muscle weakness and atrophy. Clinical features include exercise intolerance

with early fatigability, pain, cramps and occasionally myoglobinuria. Note=The disease is caused by mutations

affecting the gene represented in this entry

7 diseases for PHKA1: About MalaCards

muscle glycogenosis muscle phosphorylase kinase deficiency phka1-related phosphorylase kinase deficiency phosphorylase kinase deficiency

glycogen storage disease hepatitis metabolic disorders

1 disease from the University of Copenhagen DISEASES database for PHKA1:

Glycogen storage disease

PHKA1 for disorders About GeneDecksing

Export disorders for PHKA1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for PHKA1 gene, integrated from 9 sources (see all 28):
(articles sorted by number of sources associating them with PHKA1)

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world of online information

The multiphosphorylation domain of the phosphorylase kinase alpha M and alpha L subunits is a hotspot of differential mRNA processing and of molecular evolution. (PubMed id 8226841)^{1, 2, 9} Wuellrich A.... Kilimann M.W. (1993)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Muscle glycogenosis with low phosphorylase kinase activity: mutations in PHKA1, PHKG1 or six other candidate genes explain only a minority of cases. (PubMed id 12825073)^{1, 2} Burwinkel B.... Kilimann M.W. (2003)
Muscle phosphorylase b kinase deficiency revisited. (PubMed id 20080404)^{1, 9} Echaniz-Laguna A....Dimauro S. (2010)
Interlaboratory reproducibility of large-scale human p rotein-complex analysis by standardized AP-MS. (PubMed id 23455922)¹ Varjosalo M....Superti-Furga G. (2013)
A census of human soluble protein complexes. (PubMed id 22939629)¹ Havugimana P.C....Emili A. (2012)
Muscle phosphorylase kinase deficiency: a neutral meta bolic variant or a disease? (PubMed id 22238410)¹ Preisler N....Vissing J. (2012)
Initial characterization of the human central proteome. (PubMed id 21269460)² Burkard T.R.... Colinge J. (2011)
Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)¹ Kim W....Gygi S.P. (2011)
Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)¹ Danielsen J.M....Nielsen M.L. (2011)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 5255	HGNC: 8925	AceView: PHKA1	Ensembl:ENSG00000067177	euGenes: HUgn5255
ECgene: PHKA1	Kegg: 5255	H-InvDB: PHKA1

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for PHKA1	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PHKA1

Intellectual Property for PHKA1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for PHKA1 gene:
Search GeneIP for patents involving PHKA1

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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PHKA1 Gene

Phosphorylase Kinase, Alpha 1 (Muscle)

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PHKA1 Gene

Phosphorylase Kinase, Alpha 1 (Muscle)

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