Details for: PHKA1

Gene ID: 5255

Symbol: PHKA1

Ensembl ID: ENSG00000067177

Description: phosphorylase kinase regulatory subunit alpha 1

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 115.1434
    Cell Significance Index: -17.9100
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 69.7436
    Cell Significance Index: -17.6900
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 35.8640
    Cell Significance Index: -14.5700
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 15.2711
    Cell Significance Index: -14.5800
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 14.5747
    Cell Significance Index: -17.9700
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 5.2162
    Cell Significance Index: 134.0800
  • Cell Name: type II muscle cell (CL0002212)
    Fold Change: 2.0812
    Cell Significance Index: 33.5800
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 1.3485
    Cell Significance Index: 28.8300
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: 1.1006
    Cell Significance Index: 26.8600
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.7337
    Cell Significance Index: 10.0100
  • Cell Name: hippocampal astrocyte (CL0002604)
    Fold Change: 0.6987
    Cell Significance Index: 9.7700
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.5042
    Cell Significance Index: 348.7200
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.5016
    Cell Significance Index: 49.6200
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.3426
    Cell Significance Index: 309.3500
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.3368
    Cell Significance Index: 25.8500
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.2958
    Cell Significance Index: 134.2600
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.2754
    Cell Significance Index: 5.8700
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.2541
    Cell Significance Index: 41.3300
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.2103
    Cell Significance Index: 40.0200
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.2050
    Cell Significance Index: 22.3000
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.1532
    Cell Significance Index: 30.4000
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.1477
    Cell Significance Index: 4.0200
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.1375
    Cell Significance Index: 8.2500
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.1356
    Cell Significance Index: 48.6500
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.1271
    Cell Significance Index: 6.6000
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.1186
    Cell Significance Index: 223.3300
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.1134
    Cell Significance Index: 3.1700
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.1055
    Cell Significance Index: 4.9200
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.1025
    Cell Significance Index: 5.7500
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.0951
    Cell Significance Index: 2.7400
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.0901
    Cell Significance Index: 18.0800
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.0872
    Cell Significance Index: 2.1800
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.0741
    Cell Significance Index: 13.3700
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.0627
    Cell Significance Index: 2.8400
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0606
    Cell Significance Index: 2.1300
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0531
    Cell Significance Index: 33.7100
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.0488
    Cell Significance Index: 3.3800
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 0.0390
    Cell Significance Index: 5.6800
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0382
    Cell Significance Index: 6.5200
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.0359
    Cell Significance Index: 4.4200
  • Cell Name: helper T cell (CL0000912)
    Fold Change: 0.0260
    Cell Significance Index: 0.3700
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.0218
    Cell Significance Index: 9.6600
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.0169
    Cell Significance Index: 1.9700
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.0157
    Cell Significance Index: 0.9900
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.0130
    Cell Significance Index: 7.0800
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0064
    Cell Significance Index: 9.8900
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0041
    Cell Significance Index: 7.5300
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.0023
    Cell Significance Index: -0.0500
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0093
    Cell Significance Index: -12.6300
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0189
    Cell Significance Index: -13.8900
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0227
    Cell Significance Index: -16.8200
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0241
    Cell Significance Index: -18.2600
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0291
    Cell Significance Index: -16.4200
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0347
    Cell Significance Index: -21.6700
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.0559
    Cell Significance Index: -7.1600
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0664
    Cell Significance Index: -19.1100
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.0676
    Cell Significance Index: -5.0400
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0822
    Cell Significance Index: -11.3000
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0985
    Cell Significance Index: -10.0600
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1014
    Cell Significance Index: -21.3600
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1034
    Cell Significance Index: -10.7700
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.1084
    Cell Significance Index: -7.2900
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: -0.1093
    Cell Significance Index: -1.8900
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.1155
    Cell Significance Index: -14.9200
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1287
    Cell Significance Index: -14.7500
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.1291
    Cell Significance Index: -7.9200
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.1363
    Cell Significance Index: -6.0300
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.1506
    Cell Significance Index: -2.2700
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.1510
    Cell Significance Index: -10.6800
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.1563
    Cell Significance Index: -18.4300
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.1653
    Cell Significance Index: -3.4300
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.1754
    Cell Significance Index: -10.7800
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.1793
    Cell Significance Index: -6.7900
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.1926
    Cell Significance Index: -3.3000
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.2020
    Cell Significance Index: -6.4700
  • Cell Name: epithelial cell of pancreas (CL0000083)
    Fold Change: -0.2081
    Cell Significance Index: -3.4300
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.2082
    Cell Significance Index: -16.4900
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.2182
    Cell Significance Index: -10.2600
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.2213
    Cell Significance Index: -11.5300
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.2770
    Cell Significance Index: -17.8700
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.2813
    Cell Significance Index: -5.9700
  • Cell Name: astrocyte (CL0000127)
    Fold Change: -0.3071
    Cell Significance Index: -3.5200
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.3527
    Cell Significance Index: -18.5200
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.3529
    Cell Significance Index: -5.2100
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.3535
    Cell Significance Index: -6.9000
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.3597
    Cell Significance Index: -12.5000
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.3834
    Cell Significance Index: -5.4900
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: -0.3873
    Cell Significance Index: -5.5700
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: -0.3971
    Cell Significance Index: -5.6900
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.4083
    Cell Significance Index: -14.3100
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.4113
    Cell Significance Index: -9.0100
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: -0.4120
    Cell Significance Index: -9.9800
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: -0.4358
    Cell Significance Index: -4.5100
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.4638
    Cell Significance Index: -9.1700
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.4835
    Cell Significance Index: -15.4000
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.4850
    Cell Significance Index: -24.5100
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: -0.4875
    Cell Significance Index: -7.0000
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.4924
    Cell Significance Index: -18.0800
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.4969
    Cell Significance Index: -16.2700
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.5098
    Cell Significance Index: -10.6700

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** PHKA1 is a gene that encodes a regulatory subunit of phosphorylase kinase, an enzyme critical for glycogenolysis. The PHKA1 protein is a member of the alpha subunit family of regulatory subunits, which are essential for the proper assembly and activity of phosphorylase kinase. PHKA1 is specifically expressed in various cell types, including skeletal muscle fibers, cardiac muscle cells, and astrocytes of the cerebral cortex. The gene is highly conserved across species, suggesting its importance in fundamental cellular processes. **Pathways and Functions:** PHKA1 is involved in several key pathways, including: 1. **Glycogen breakdown (glycogenolysis):** PHKA1 is essential for the proper functioning of phosphorylase kinase, which catalyzes the breakdown of glycogen into glucose-1-phosphate. This process is critical for maintaining energy homeostasis in cells. 2. **Calcium signaling:** PHKA1 interacts with calmodulin, a calcium-binding protein, to regulate calcium-dependent signaling pathways. This interaction is essential for various cellular processes, including muscle contraction and cell proliferation. 3. **Cell proliferation and differentiation:** PHKA1 is involved in the regulation of cell growth and differentiation, particularly in the context of muscle development and regeneration. 4. **Metabolism:** PHKA1 is also involved in various metabolic pathways, including the generation of precursor metabolites and energy. **Clinical Significance:** Dysregulation of PHKA1 has been implicated in several disease states, including: 1. **Glycogen storage diseases:** Mutations in PHKA1 can lead to glycogen storage diseases, such as Cori's disease, which is characterized by impaired glycogenolysis and energy metabolism. 2. **Muscular dystrophy:** PHKA1 is also involved in muscle development and regeneration, and mutations in the gene can contribute to muscular dystrophy. 3. **Cancer:** PHKA1 has been implicated in the regulation of cell proliferation and differentiation, and its dysregulation may contribute to cancer development and progression. In conclusion, PHKA1 is a critical gene that plays a pivotal role in glycogen metabolism and beyond. Its dysregulation can have significant consequences for energy homeostasis, muscle function, and cancer development. Further research is needed to fully elucidate the mechanisms by which PHKA1 regulates cellular processes and to explore its therapeutic potential.

Genular Protein ID: 2836888485

Symbol: KPB1_HUMAN

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

UniProtKB Accession Codes:

P46020 B7ZL05 B7ZL07 Q2M3D7

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 3 CORUM 1 CTD 1 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 6 EMDB 2 Ensembl 3 ExpressionAtlas 1 GO 8 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 5 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 MetOSite 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 5 PDBsum 5 PIR 1 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 3 Pumba 1 RNAct 1 Reactome 1 RefSeq 3 SIGNOR 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TopDownProteomics 1 TreeFam 1 UCSC 1 UniPathway 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 8226841

Title: 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

DOI: 10.1016/s0021-9258(19)49449-0

PubMed ID: 15772651

Title: The DNA sequence of the human X chromosome.

PubMed ID: 15772651

DOI: 10.1038/nature03440

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 18691976

Title: Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.

PubMed ID: 18691976

DOI: 10.1016/j.molcel.2008.07.007

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 19690332

Title: Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.

PubMed ID: 19690332

DOI: 10.1126/scisignal.2000007

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 12825073

Title: 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

DOI: 10.1038/sj.ejhg.5200996

Sequence Information:

  • Length: 1223
  • Mass: 137312
  • Checksum: 48511719C0BFE40F
  • Sequence:
    • MRSRSNSGVR LDGYARLVQQ TILCHQNPVT GLLPASYDQK DAWVRDNVYS ILAVWGLGLA 
YRKNADRDED KAKAYELEQS VVKLMRGLLH CMIRQVDKVE SFKYSQSTKD SLHAKYNTKT 
CATVVGDDQW GHLQLDATSV YLLFLAQMTA SGLHIIHSLD EVNFIQNLVF YIEAAYKTAD 
FGIWERGDKT NQGISELNAS SVGMAKAALE ALDELDLFGV KGGPQSVIHV LADEVQHCQS 
ILNSLLPRAS TSKEVDASLL SVVSFPAFAV EDSQLVELTK QEIITKLQGR YGCCRFLRDG 
YKTPKEDPNR LYYEPAELKL FENIECEWPL FWTYFILDGV FSGNAEQVQE YKEALEAVLI 
KGKNGVPLLP ELYSVPPDRV DEEYQNPHTV DRVPMGKLPH MWGQSLYILG SLMAEGFLAP 
GEIDPLNRRF STVPKPDVVV QVSILAETEE IKTILKDKGI YVETIAEVYP IRVQPARILS 
HIYSSLGCNN RMKLSGRPYR HMGVLGTSKL YDIRKTIFTF TPQFIDQQQF YLALDNKMIV 
EMLRTDLSYL CSRWRMTGQP TITFPISHSM LDEDGTSLNS SILAALRKMQ DGYFGGARVQ 
TGKLSEFLTT SCCTHLSFMD PGPEGKLYSE DYDDNYDYLE SGNWMNDYDS TSHARCGDEV 
ARYLDHLLAH TAPHPKLAPT SQKGGLDRFQ AAVQTTCDLM SLVTKAKELH VQNVHMYLPT 
KLFQASRPSF NLLDSPHPRQ ENQVPSVRVE IHLPRDQSGE VDFKALVLQL KETSSLQEQA 
DILYMLYTMK GPDWNTELYN ERSATVRELL TELYGKVGEI RHWGLIRYIS GILRKKVEAL 
DEACTDLLSH QKHLTVGLPP EPREKTISAP LPYEALTQLI DEASEGDMSI SILTQEIMVY 
LAMYMRTQPG LFAEMFRLRI GLIIQVMATE LAHSLRCSAE EATEGLMNLS PSAMKNLLHH 
ILSGKEFGVE RSVRPTDSNV SPAISIHEIG AVGATKTERT GIMQLKSEIK QVEFRRLSIS 
AESQSPGTSM TPSSGSFPSA YDQQSSKDSR QGQWQRRRRL DGALNRVPVG FYQKVWKVLQ 
KCHGLSVEGF VLPSSTTREM TPGEIKFSVH VESVLNRVPQ PEYRQLLVEA ILVLTMLADI 
EIHSIGSIIA VEKIVHIAND LFLQEQKTLG ADDTMLAKDP ASGICTLLYD SAPSGRFGTM 
TYLSKAAATY VQEFLPHSIC AMQ

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.