Aliases for PHKA1 Gene
Aliases for PHKA1 Gene
External Ids for PHKA1 Gene
- HGNC: 8925
- Entrez Gene: 5255
- Ensembl: ENSG00000067177
- OMIM: 311870
- UniProtKB: P46020
Previous HGNC Symbols for PHKA1 Gene
- PHKA
Previous GeneCards Identifiers for PHKA1 Gene
- GC0XM067527
- GC0XM069035
- GC0XM070033
- GC0XM070667
- GC0XM071583
- GC0XM071715
- GC0XM065553
- GC0XM071798
Summaries 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 Regulatory Subunit Alpha 1) is a Protein Coding gene. Diseases associated with PHKA1 include Glycogen Storage Disease, Type Ixd and Glycogen Storage Disease Viii. Among its related pathways are Glycosaminoglycan metabolism and Glycogen Metabolism. Gene Ontology (GO) annotations related to this gene include calmodulin binding and phosphorylase kinase activity. An important paralog of this gene is PHKA2.
UniProtKB/Swiss-Prot for PHKA1 Gene
-
Phosphorylase b kinase catalyzes the phosphorylation of serine in certain substrates, including troponin I. The alpha chain may bind calmodulin.
Additional gene information for PHKA1 Gene
- Monarch Initiative
- Search for PHKA1 at DataMed
- Search for PHKA1 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PHKA1 Gene
Genomics for PHKA1 Gene
GeneHancer (GH) Regulatory Elements for PHKA1 Gene
Promoters and enhancers for PHKA1 Gene
| GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
|---|---|---|---|---|---|---|---|---|---|---|
| GH0XI072713 | Promoter/Enhancer | 1.9 | EPDnew Ensembl ENCODE | 550.8 | -0.1 | -55 | 2.7 | ATF1 ARNT SIN3A GLI4 ZNF2 GLIS2 ZNF548 SP3 RXRA SP5 | PHKA1 RTL5 CHIC1 HDAC8 GC0XM072728 ENSG00000273788 | |
| GH0XI072711 | Enhancer | 0.6 | ENCODE | 0.8 | +2.1 | 2089 | 0.7 | ZNF189 MAFG ZNF148 OSR2 MITF ZNF316 SCRT2 NFE2 ATF7 ZNF600 | PHKA1 PHKA1-AS1 | |
| GH0XI072619 | Enhancer | 1 | Ensembl ENCODE | 0.2 | +92.8 | 92828 | 3.7 | ATF1 FOXA2 INSM2 KLF17 BATF IRF4 BRCA1 RFX5 ZNF366 FOS | LOC101928380 FAM226B LOC100499496 HDAC8 PHKA1 | |
| GH0XI072684 | Enhancer | 0.5 | ENCODE | 0.3 | +28.4 | 28411 | 2.1 | SMARCE1 ZNF217 CTBP1 JUND DPF2 RCOR1 | FAM226B PHKA1-AS1 GC0XP072661 PHKA1 | |
| GH0XI072634 | Enhancer | 0.2 | ENCODE | 0.2 | +79.8 | 79813 | 0.2 | PHKA1-AS1 LOC100499496 HDAC8 PHKA1 |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around PHKA1 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the PHKA1 gene promoter:
Regulatory Element Products
Genomic Locations for PHKA1 Gene
Genomic Locations for PHKA1 Gene
- chrX:72,578,814-72,714,319
- (GRCh38/hg38)
- Size:
- 135,506 bases
- Orientation:
- Minus strand
- chrX:71,798,664-71,934,167
- (GRCh37/hg19)
Genomic View for PHKA1 Gene
Genes around PHKA1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- Xq13.1 by Ensembl
- Xq13.1 by Entrez Gene
- Xq13.1 by HGNC
PHKA1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for PHKA1 Gene
Proteins for PHKA1 Gene
-
Protein details for PHKA1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P46020-KPB1_HUMAN
- Recommended name:
- Phosphorylase b kinase regulatory subunit alpha, skeletal muscle isoform
- Protein Accession:
- P46020
- B7ZL05
- B7ZL07
- Q2M3D7
Protein attributes for PHKA1 Gene
- Size:
- 1223 amino acids
- Molecular mass:
- 137312 Da
- Quaternary structure:
-
- 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.
Protein Expression for PHKA1 Gene
Post-translational modifications for PHKA1 Gene
- Although the final Cys may be farnesylated, the terminal tripeptide is probably not removed, and the C-terminus is not methylated.
Other Protein References for PHKA1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for PHKA1
-
Abcam antibodies for PHKA1
- Invitrogen Antibodies for PHKA1
- GeneTex PHKA1 antibody for PHKA1
Protein Products
-
OriGene Purified Proteins for PHKA1
- Search Origene for MassSpec and Protein Over-expression Lysates for PHKA1
- Origene Custom Protein Services for PHKA1
- Search GeneTex for Proteins for PHKA1
-
Abcam proteins for PHKA1
Assay Products
No data available for DME Specific Peptides for PHKA1 Gene
Domains & Families for PHKA1 Gene
Gene Families for PHKA1 Gene
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted intracellular proteins
Protein Domains for PHKA1 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for PHKA1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
P46020- Family:
-
- Belongs to the phosphorylase b kinase regulatory chain family.
Function for PHKA1 Gene
Molecular function for PHKA1 Gene
- GENATLAS Biochemistry:
- phosphorylase kinase,alpha 1 subunit,muscle,glycogen catabolism
- UniProtKB/Swiss-Prot EnzymeRegulation:
- By phosphorylation of various serine residues. Allosteric regulation by calcium.
- UniProtKB/Swiss-Prot Function:
- Phosphorylase b kinase catalyzes the phosphorylation of serine in certain substrates, including troponin I. The alpha chain may bind calmodulin.
Phenotypes From GWAS Catalog for PHKA1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004689 | phosphorylase kinase activity | TAS | 8226841 |
| GO:0005516 | calmodulin binding | IEA | -- |
Phenotypes for PHKA1 Gene
- MGI mutant phenotypes for PHKA1:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for PHKA1:
-
- Increased vaccinia virus (VACV) infection
- Decreased shRNA abundance (Z-score < -2)
- Increased transferrin (TF) endocytosis
- Increased shRNA abundance (Z-score > 2)
- Decreased viability
- Increased HPV18 LCR reporter activity
- Decreased infection with West Nile virus (WNV)
- Decreased West Nile virus (WNV) infection
- Negative genetic interaction between BLM-/- and BLM+/+
- Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation
- Decreased viability after gemcitabine stimulation
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for PHKA1
-
-
ViGene Biosciences lentiviral particle packaged cDNA for PHKA1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for PHKA1 gene
- Search ViGene Biosciences for PHKA1
CRISPR Products
-
OriGene CRISPR knockouts for PHKA1
- genomics-online: gRNA clones - Search results for 103 available PHKA1 gene related products
- Overview of 103 available PHKA1 gene related products
- Applied Biological Materials CRISPR for PHKA1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for PHKA1
- GenScript: Design CRISPR guide RNA sequences for PHKA1
miRNA for PHKA1 Gene
- miRTarBase miRNAs that target PHKA1
-
- hsa-mir-122-5p (MIRT023317)
- hsa-mir-103a-3p (MIRT027122)
- hsa-mir-98-5p (MIRT027583)
- hsa-mir-16-5p (MIRT031657)
- hsa-mir-769-3p (MIRT039113)
- hsa-mir-421 (MIRT039366)
- hsa-mir-484 (MIRT042222)
- hsa-mir-25-3p (MIRT050362)
- hsa-let-7e-5p (MIRT051613)
- hsa-let-7b-5p (MIRT052023)
- hsa-mir-1272 (MIRT443272)
- hsa-mir-576-5p (MIRT506180)
- hsa-mir-302c-5p (MIRT506181)
- hsa-mir-4524b-5p (MIRT506182)
- hsa-mir-4524a-5p (MIRT506183)
- hsa-mir-107 (MIRT506184)
- hsa-mir-646 (MIRT506185)
- hsa-mir-4735-5p (MIRT506186)
- hsa-mir-503-5p (MIRT506187)
- hsa-mir-32-3p (MIRT506188)
- hsa-mir-15b-5p (MIRT506189)
- hsa-mir-497-5p (MIRT506190)
- hsa-mir-6838-5p (MIRT506191)
- hsa-mir-424-5p (MIRT506192)
- hsa-mir-195-5p (MIRT506193)
- hsa-mir-15a-5p (MIRT506194)
- hsa-mir-5571-5p (MIRT547136)
- hsa-mir-3941 (MIRT662929)
- hsa-mir-4719 (MIRT662930)
- hsa-mir-4789-3p (MIRT662931)
- hsa-mir-603 (MIRT662932)
- hsa-mir-362-3p (MIRT662933)
- hsa-mir-329-3p (MIRT662934)
- hsa-mir-8485 (MIRT662935)
- hsa-mir-511-3p (MIRT674602)
- hsa-mir-1185-2-3p (MIRT676842)
- hsa-mir-1185-1-3p (MIRT676843)
- hsa-let-7f-2-3p (MIRT676844)
- hsa-mir-4789-5p (MIRT676845)
- hsa-mir-98-3p (MIRT676846)
- hsa-let-7f-1-3p (MIRT676847)
- hsa-let-7b-3p (MIRT676848)
- hsa-let-7a-3p (MIRT676849)
- hsa-mir-1303 (MIRT707942)
miRNA Products
- Search ViGene Biosciences for PHKA1
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for PHKA1
- Browse OriGene Inhibitory RNA Products For PHKA1
- genomics-online: shRNA clones - Search results for 103 available PHKA1 gene related products
- Overview of 103 available PHKA1 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for PHKA1 gene
Clone Products
-
OriGene ORF clones in human for PHKA1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for PHKA1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for PHKA1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for PHKA1
- Applied Biological Materials Clones for PHKA1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for PHKA1
-
ViGene Biosciences adenoviral particle packaged cDNA for PHKA1 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for PHKA1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for PHKA1 gene
No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for PHKA1 Gene
Localization for PHKA1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for PHKA1 Gene
- Cell membrane; Lipid-anchor; Cytoplasmic side.
| Compartment | Confidence |
|---|---|
| cytosol | 5 |
| plasma membrane | 3 |
| nucleus | 1 |
- Vesicles (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005829 | cytosol | TAS | -- |
| GO:0005886 | plasma membrane | IEA | -- |
| GO:0005964 | phosphorylase kinase complex | IBA | -- |
| GO:0016020 | membrane | IEA | -- |
Pathways & Interactions for PHKA1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Activation of cAMP-Dependent PKA |
.77
|
.56
|
| 2 | Glucose metabolism | ||
| 3 | Calcium signaling pathway | ||
| 4 | Glucagon signaling pathway | ||
| 5 | Regulation of lipid metabolism Insulin signaling-generic cascades | ||
Pathways by source for PHKA1 Gene
1 BioSystems pathway for PHKA1 Gene
4 Reactome pathways for PHKA1 Gene
3 KEGG pathways for PHKA1 Gene
2 GeneGo (Thomson Reuters) pathways for PHKA1 Gene
4 Qiagen pathways for PHKA1 Gene
UniProtKB/Swiss-Prot P46020-KPB1_HUMAN
- Pathway: Glycan biosynthesis; glycogen metabolism.
Interacting Proteins for PHKA1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005975 | carbohydrate metabolic process | IEA | -- |
| GO:0005977 | glycogen metabolic process | TAS | 7874115 |
| GO:0005980 | glycogen catabolic process | TAS | -- |
| GO:0006091 | generation of precursor metabolites and energy | TAS | 7874115 |
| GO:0006468 | protein phosphorylation | IEA | -- |
No data available for SIGNOR curated interactions for PHKA1 Gene
Drugs & Compounds for PHKA1 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| calcium | Approved | Nutra | 0 |
Transcripts for PHKA1 Gene
mRNA/cDNA for PHKA1 Gene
- (4) REFSEQ mRNAs :
- (6) Additional mRNA sequences :
- (91) Selected AceView cDNA sequences:
- (5) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for PHKA1 Gene
CRISPR Products
-
OriGene CRISPR knockouts for PHKA1
- genomics-online: gRNA clones - Search results for 103 available PHKA1 gene related products
- Overview of 103 available PHKA1 gene related products
- Applied Biological Materials CRISPR for PHKA1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for PHKA1
- GenScript: Design CRISPR guide RNA sequences for PHKA1
miRNA Products
- Search ViGene Biosciences for PHKA1
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for PHKA1
- Browse OriGene Inhibitory RNA Products For PHKA1
- genomics-online: shRNA clones - Search results for 103 available PHKA1 gene related products
- Overview of 103 available PHKA1 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for PHKA1 gene
Clone Products
-
OriGene ORF clones in human for PHKA1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for PHKA1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for PHKA1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for PHKA1
- Applied Biological Materials Clones for PHKA1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression for PHKA1 Gene
mRNA differential expression in normal tissues according to GTEx for PHKA1 Gene
This gene is overexpressed in Muscle - Skeletal (x15.0).
This gene is overexpressed in Breast (14.3), Stomach (6.9), and Neutrophil (6.5).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PHKA1 Gene
NURSA nuclear receptor signaling pathways regulating expression of PHKA1 Gene:
PHKA1SOURCE GeneReport for Unigene cluster for PHKA1 Gene:
Hs.201379mRNA Expression by UniProt/SwissProt for PHKA1 Gene:
P46020-KPB1_HUMAN
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.
Evidence on tissue expression from TISSUES for PHKA1 Gene
- Muscle(4.5)
- Nervous system(4.1)
- Liver(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for PHKA1 Gene
Germ Layers:
- mesoderm
Systems:
- nervous
- skeletal muscle
Primer Products
-
OriGene qPCR primer pairs for PHKA1
- genomics-online: primer clones - Search results for 103 available PHKA1 gene related products
- Overview of 103 available PHKA1 gene related products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for PHKA1 Gene
Orthologs for PHKA1 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | PHKA1 33 34 |
|
||
| cow (Bos Taurus) |
Mammalia | PHKA1 33 34 |
|
||
| dog (Canis familiaris) |
Mammalia | PHKA1 33 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Phka1 33 16 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Phka1 33 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 34 |
|
OneToMany | |
| -- 34 |
|
OneToMany | |||
| -- 34 |
|
OneToMany | |||
| oppossum (Monodelphis domestica) |
Mammalia | PHKA1 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | PHKA1 33 34 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | -- 34 |
|
OneToMany | |
| -- 34 |
|
OneToMany | |||
| tropical clawed frog (Silurana tropicalis) |
Amphibia | phka1 33 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.31944 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | phka1 33 |
|
||
| si:dkey-22f5.10 34 |
|
ManyToMany | |||
| wufl37h01 33 |
|
||||
| fruit fly (Drosophila melanogaster) |
Insecta | CG7766 35 |
|
|
|
| worm (Caenorhabditis elegans) |
Secernentea | C14B9.8 35 |
|
|
- Species where no ortholog for PHKA1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea squirt (Ciona intestinalis)
- sea squirt (Ciona savignyi)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
Paralogs for PHKA1 Gene
(2) SIMAP similar genes for PHKA1 Gene using alignment to 3 proteins:
Pseudogenes.org Pseudogenes for PHKA1 Gene
Variants for PHKA1 Gene
| SNP ID | Clin | Chr 0X pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1025423127 | uncertain-significance, Glycogen storage disease IXd | 72,581,043(-) | C/T | coding_sequence_variant, missense_variant, non_coding_transcript_variant | |
| rs1028190311 | uncertain-significance, Glycogen phosphorylase kinase deficiency | 72,580,328(-) | T/G | 3_prime_UTR_variant, non_coding_transcript_variant | |
| rs1060499719 | uncertain-significance, Peripheral neuropathy | 72,650,442(-) | A/T | coding_sequence_variant, missense_variant, non_coding_transcript_variant | |
| rs111688568 | uncertain-significance, benign, Glycogen phosphorylase kinase deficiency | 72,579,738(-) | ACACACACACACACACACACACACA/ACACACACACACACACACACA/ACACACACACACACACACACACA/ACACACACACACACACACACACACACA/ACACACACACACACACACACACACACACA | 3_prime_UTR_variant, non_coding_transcript_variant | |
| rs137852546 | pathogenic, Glycogen storage disease IXd | 72,582,562(-) | C/A | coding_sequence_variant, non_coding_transcript_variant, stop_gained |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv2663199 | CNV | deletion | 23128226 |
Residual Variation Intolerance Score:
11.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
5.81;
73.76% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for PHKA1 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PHKA1 Gene
Disorders for PHKA1 Gene
(5) MalaCards diseases for PHKA1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| glycogen storage disease, type ixd |
|
|
| glycogen storage disease viii |
|
|
| glycogen storage disease |
|
|
| phosphorylase kinase deficiency |
|
|
| glycogen storage disease v |
|
|
Search PHKA1 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
KPB1_HUMAN- 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. {ECO:0000269 PubMed:12825073}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for PHKA1
No data available for Genatlas for PHKA1 Gene
Publications for PHKA1 Gene
- The multiphosphorylation domain of the phosphorylase kinase alpha M and alpha L subunits is a hotspot of differential mRNA processing and of molecular evolution. (PMID: 8226841) Wüllrich A … Kilimann MW (The Journal of biological chemistry 1993) 3 4 22 58
- Muscle phosphorylase b kinase deficiency revisited. (PMID: 20080404) Echaniz-Laguna A … Dimauro S (Neuromuscular disorders : NMD 2010) 3 22 58
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
- Muscle glycogenosis with low phosphorylase kinase activity: mutations in PHKA1, PHKG1 or six other candidate genes explain only a minority of cases. (PMID: 12825073) Burwinkel B … Kilimann MW (European journal of human genetics : EJHG 2003) 3 4 58
- Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
Products for PHKA1 Gene
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- Origene Custom Protein Services for PHKA1
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PHKA1
- Browse OriGene Inhibitory RNA Products For PHKA1
- OriGene qPCR primer pairs for PHKA1
- OriGene CRISPR knockouts for PHKA1
- OriGene ORF clones in human for PHKA1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For PHKA1
- GenScript: Next-day shipping of latest version cDNA ORF clones for PHKA1 in any vector
- GenScript Custom Purified and Recombinant Proteins Services for PHKA1
- GenScript Custom Assay Services for PHKA1
- GenScript Custom overexpressing Cell Line Services for PHKA1
- GenScript: Design CRISPR guide RNA sequences for PHKA1
- Design optimal peptide antigens
- CloneReady with Over 120,000 Genes
- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
- Plasmid Preparation
- GenScript Custom Peptide Services for PHKA1
- Browse Sino Biological cDNA Clones
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse Sino Biological ELISA Kits
- Browse Sino Biological ELISA Pair Sets
- Browse Sino Biological CRO Services
- Browse Sino Biological Control Vectors
- Sino Biological Transfection Reagent
- Sino Biological Anti-His Tag Antibody
- Novus Biologicals Antibodies for PHKA1
- Novus Biologicals lysates and proteins for PHKA1
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Abcam antibodies for PHKA1
- Abcam proteins for PHKA1
- Find your target
- Browse Primary Antibodies
- Browse Conjugated Primary Antibodies
- Browse Secondary Antibodies
- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- Browse Antibodies at Cloud-Clone Corp.
- Browse Proteins at Cloud-Clone Corp.
- Browse Assay Kits at Cloud-Clone Corp.
- Browse Knockouts at Cloud-Clone Corp.
- Browse Knockins at Cloud-Clone Corp.
- Cloud-Clone Corp. disease models service
- Browse cDNA clones at Cloud-Clone Corp.
- Browse primers at Cloud-Clone Corp.
- Cloud-Clone Corp. primary cells service
- Invitrogen Antibodies for PHKA1
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Cyagen custom Knockout/knockin (KOKI) mouse models for PHKA1
- VectorBuilder custom plasmid, inducible vectors for PHKA1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for PHKA1
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for PHKA1
- antibodies-online: Search results for 13 available PHKA1 Antibodies ranked by validation data
- Compare Top PHKA1 Antibodies
- antibodies-online: Search results for 3 available PHKA1 Elisa Kits ranked by validation data
- Compare Top PHKA1 Elisa Kits
- antibodies-online: Search results for 5 available PHKA1 Proteins ranked by validation data
- Compare Top PHKA1 Proteins
- GeneTex PHKA1 antibody for PHKA1
- Search GeneTex for Proteins for PHKA1
- ViGene Biosciences adenoviral particle packaged cDNA for PHKA1 gene
- ViGene Biosciences lentiviral particle packaged cDNA for PHKA1 gene
- ViGene Biosciences ready-to-package AAV shRNAs for PHKA1 gene
- Search ViGene Biosciences for PHKA1
- Horizon Cell Lines for PHKA1
- genomics-online: cdna clones - Search results for 103 available PHKA1 gene related products
- Overview of 103 available PHKA1 gene related products
- orf clones - Search results for 103 available PHKA1 gene related products
- Overview of 103 available PHKA1 gene related products
- genomics-online: gRNA clones - Search results for 103 available PHKA1 gene related products
- Overview of 103 available PHKA1 gene related products
- genomics-online: primer clones - Search results for 103 available PHKA1 gene related products
- Overview of 103 available PHKA1 gene related products
- genomics-online: shRNA clones - Search results for 103 available PHKA1 gene related products
- Overview of 103 available PHKA1 gene related products
Sources for PHKA1 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew