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PHKA1 Gene

protein-coding GIFtS: 63
GCID: GC0XM071798

Phosphorylase Kinase, Alpha 1 (Muscle)

(Previous symbol: PHKA)

See PHKA1-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 GC0XM071715 GC0XM065553

(According to Entrez Gene, GeneCards, 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 phka1-related phosphorylase kinase deficiency. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence at NCBI GenBank:

NC_000023.10 NT_011651.18 NC_018934.2

Regulatory elements:

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 Chromatin IP Primers for PHKA1

Epigenetics:

DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 GC0XM071798: 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 ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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

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:

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

not methylated (By similarity)¹

Modification sites at neXtProt

Modification sites at PhosphoSitePlus

See PHKA1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

PHKA1 Human Recombinant Protein Products:

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	Novus Biologicals PHKA1 Protein Novus Biologicals PHKA1 Lysates
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	Browse Proteins at Cloud-Clone Corp.
	Search eBioscience for Proteins for PHKA1
	antibodies-online proteins for PHKA1 (2 products)
	antibodies-online peptides for PHKA1

PHKA1 Antibody Products:

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	antibodies-online antibodies for PHKA1 (16 products)

PHKA1 Assay Products:

	Browse Kits and Assays available from EMD Millipore
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	antibodies-online kits for PHKA1 (8 products)

(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

Find genes that share domains with PHKA1 About GenesLikeMe

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 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: 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	--

Find genes that share ontologies with PHKA1 About GenesLikeMe

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

Find genes that share phenotypes with PHKA1 About GenesLikeMe

Animal Models:

genOway: Develop your customized and physiologically relevant rodent model for PHKA1

miRNA Products:		miRTarBase miRNAs that target PHKA1: hsa-mir-98-5p (MIRT027583), hsa-mir-25-3p (MIRT050362), hsa-let-7b-5p (MIRT052023), hsa-mir-103a-3p (MIRT027122), hsa-mir-421 (MIRT039366), hsa-mir-16-5p (MIRT031657), hsa-mir-769-3p (MIRT039113), hsa-let-7e-5p (MIRT051613), hsa-mir-122-5p (MIRT023317), hsa-mir-484 (MIRT042222)

		Block miRNA regulation of human, mouse, rat PHKA1 using miScript Target Protectors
		Selected qRT-PCR 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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Gene Editing
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DNA2.0 Custom Protein Engineering Service for PHKA1

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PHKA1

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
About This Section

Subcellular locations from UniProtKB/Swiss-Prot

KPB1_HUMAN, P46020: Cell membrane; Lipid-anchor; Cytoplasmic side (Potential)

Subcellular locations from COMPARTMENTS:

Compartment	Confidence
plasma membrane	5
cytosol	4
nucleus	1

About this image

Gene Ontology (GO): 2 cellular component terms: About this table

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

Find genes that share ontologies with PHKA1 About GenesLikeMe

(SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
About This Section

SuperPaths for PHKA1 About (see all 10)

See pathways by source

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by

SuperPath

Contained pathways About

Activation of cAMP-Dependent PKA

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

Glucose metabolism

Glucose metabolism

0.44

Glycogen breakdown (glycogenolysis)

0.00

MPS VI - Maroteaux-Lamy syndrome

Metabolism of carbohydrates

0.45

G Protein Signaling Pathways

Signal transduction cAMP signaling

0.44

fMLP Pathway

Alpha-Adrenergic Signaling

0.38

Find genes that share SuperPaths with PHKA1 About GenesLikeMe

Pathways by source See SuperPaths
Show all pathways

4 Downloadable PowerPoint Slides of GeneGlobe 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

1 Reactome Pathway for PHKA1

Glycogen breakdown (glycogenolysis)

2 Kegg Pathways (Kegg details for PHKA1):

	Calcium signaling pathway
	Insulin signaling pathway

UniProtKB/Swiss-Prot: KPB1_HUMAN, P46020

Pathway: Glycan biosynthesis; glycogen metabolism

Pathway & Disease-focused RT² Profiler PCR Array including PHKA1:

Glucose Metabolism in human mouse rat

Interactions:

Search GeneGlobe Interaction Network for PHKA1

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

Selected Interacting proteins for PHKA1 (P46020³ ENSP00000362643⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 39)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
PRKACA	P17612³, ENSP00000309591⁴	I2D: score=1 STRING: ENSP00000309591
PYGB	ENSP00000216962⁴	STRING: ENSP00000216962
PYGM	ENSP00000164139⁴	STRING: ENSP00000164139
GYG1	ENSP00000340736⁴	STRING: ENSP00000340736
CALM1	ENSP00000349467⁴	STRING: ENSP00000349467

About this table

Gene Ontology (GO): Selected biological process terms (see all 8): 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	--

Find genes that share ontologies with PHKA1 About GenesLikeMe

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse compounds at ApexBio

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	--

(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,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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:		Block miRNA regulation of human, mouse, rat PHKA1 using miScript Target Protectors
		Selected qRT-PCR 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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		GenScript: all cDNA clones in your preferred vector (see all 3): PHKA1 (NM_002637)
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		Addgene plasmids for PHKA1

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		Pre-validated RT² qPCR Primer Assay in human, mouse, rat PHKA1
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		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

Selected AceView cDNA sequences (see all 91):

AA719684 BM824020 BE619283 R30663 AU125725 X73878 BI963942 AU125639

BF222834 BX116981 BQ576295 AA247817 BX950979 CK821186 BI964104 BX113174

BX647542 X73874 BE909540 BU629223 BE713197 BX500341 BI962578 N79002

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™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, 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

PHKA1 Protein expression data from MOPED¹, PaxDb² and MaxQB³:

About this image

PHKA1 Protein Expression

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

Pathway & Disease-focused RT² Profiler 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 chordates.

Orthologs for PHKA1 gene from Selected 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)	72.66(n) 78.09(a)		422181 XM_004940598.1 XP_004940655.1
lizard (Anolis carolinensis)	Reptilia	-- --	Uncharacterized protein	90(a) 68(a)	1 ↔ many 1 ↔ many	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

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

Find genes that share paralogs with PHKA1 About GenesLikeMe

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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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

Site Specific Mutation Identification with PCR Assays

SeqTarget long-range PCR primers for resequencing PHKA1

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, 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

4 diseases for PHKA1:
About MalaCards

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

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

Glycogen storage disease

Find genes that share disorders with PHKA1 About GenesLikeMe

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)
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PubMed articles for PHKA1 gene, integrated from 10 sources (see all 29):
(articles sorted by number of sources associating them with PHKA1)

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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. (J. Biol. Chem. 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. (Genome Res. 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. (Eur. J. Hum. Genet. 2003)
Muscle phosphorylase b kinase deficiency revisited. (PubMed id 20080404)^{1, 9} Echaniz-Laguna A....Dimauro S. (Neuromuscul. Disord. 2010)
Interlaboratory reproducibility of large-scale human protein-complex analysis by standardized AP-MS. (PubMed id 23455922)¹ Varjosalo M....Superti-Furga G. (Nat. Methods 2013)
A census of human soluble protein complexes. (PubMed id 22939629)¹ Havugimana P.C....Emili A. (Cell 2012)
Muscle phosphorylase kinase deficiency: a neutral metabolic variant or a disease? (PubMed id 22238410)¹ Preisler N....Vissing J. (Neurology 2012)
Initial characterization of the human central proteome. (PubMed id 21269460)² Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)¹ Kim W....Gygi S.P. (Mol. Cell 2011)
Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. (PubMed id 21139048)¹ Danielsen J.M....Nielsen M.L. (amp 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)
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Entrez Gene: 5255	HGNC: 8925	AceView: PHKA1	Ensembl:ENSG00000067177	euGenes: HUgn5255
ECgene: PHKA1	Kegg: 5255	H-InvDB: PHKA1

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for PHKA1	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/books/NBK1116/?term=PHKA1[genesymbol]

Intellectual Property for PHKA1 gene
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Patent Information for PHKA1 gene:
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GeneCards and IP:
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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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