PYGL cDNA ORF clone, Homo sapiens(human)
| Gene Symbol | PYGL |
| Entrez Gene ID | 5836 |
| Full Name | glycogen phosphorylase L |
| Synonyms | GSD6 |
| General protein information |
|
| Gene Type | protein-coding |
| Organism | Homo sapiens(human) |
| Genome | |
| Summary | This gene encodes a homodimeric protein that catalyses the cleavage of alpha-1,4-glucosidic bonds to release glucose-1-phosphate from liver glycogen stores. This protein switches from inactive phosphorylase B to active phosphorylase A by phosphorylation of serine residue 15. Activity of this enzyme is further regulated by multiple allosteric effectors and hormonal controls. Humans have three glycogen phosphorylase genes that encode distinct isozymes that are primarily expressed in liver, brain and muscle, respectively. The liver isozyme serves the glycemic demands of the body in general while the brain and muscle isozymes supply just those tissues. In glycogen storage disease type VI, also known as Hers disease, mutations in liver glycogen phosphorylase inhibit the conversion of glycogen to glucose and results in moderate hypoglycemia, mild ketosis, growth retardation and hepatomegaly. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Feb 2011]. |
| Disorder MIM: | |
| Disorder Html: | Glycogen storage disease VI, 232700 (3) |
mRNA and Protein(s)
| mRNA | Protein | Name |
|---|---|---|
| NM_002863.4 | NP_002854.3 | glycogen phosphorylase, liver form isoform 1 |
| NM_001163940.1 | NP_001157412.1 | glycogen phosphorylase, liver form isoform 2 |
| NM_001163940.2 | NP_001157412.1 | glycogen phosphorylase, liver form isoform 2 |
| NM_002863.5 | NP_002854.3 | glycogen phosphorylase, liver form isoform 1 |
| Homo sapiens (human) | PYGL | NP_002854.3 |
| Gallus gallus (chicken) | PYGL | NP_989723.1 |
| Pan troglodytes (chimpanzee) | PYGL | XP_001145433.2 |
| Mus musculus (house mouse) | Pygl | NP_573461.2 |
| Saccharomyces cerevisiae (baker's yeast) | GPH1 | NP_015486.1 |
| Eremothecium gossypii | AGOS_AFR547W | NP_986094.1 |
| Arabidopsis thaliana (thale cress) | AT3G29320 | NP_189578.1 |
| Magnaporthe oryzae (rice blast fungus) | MGG_01819 | XP_003714833.1 |
| Neurospora crassa | NCU07027 | XP_962166.2 |
| PYGL | XP_001102253.1 | |
| Xenopus tropicalis (tropical clawed frog) | pygl | XP_002936619.1 |
| Canis lupus familiaris (dog) | PYGL | XP_003639242.1 |
| Bos taurus (cattle) | PYGL | NP_001068671.1 |
| Rattus norvegicus (Norway rat) | Pygl | NP_071604.1 |
| Kluyveromyces lactis | KLLA0F10065g | XP_455538.1 |
Related articles in PubMed
Widespread macromolecular interaction perturbations in human genetic disorders.
Sahni N, Yi S, Taipale M, Fuxman Bass JI, Coulombe-Huntington J, Yang F, Peng J, Weile J, Karras GI, Wang Y, Kov?cs IA, Kamburov A, Krykbaeva I, Lam MH, Tucker G, Khurana V, Sharma A, Liu YY, Yachie N, Zhong Q, Shen Y, Palagi A, San-Miguel A, Fan C, Balcha D, Dricot A, Jordan DM, Walsh JM, Shah AA, Yang X, Stoyanova AK, Leighton A, Calderwood MA, Jacob Y, Cusick ME, Salehi-Ashtiani K, Whitesell LJ, Sunyaev S, Berger B, Barab?si AL, Charloteaux B, Hill DE, Hao T, Roth FP, Xia Y, Walhout AJM, Lindquist S, Vidal M
Cell161(3)647-660(2015 Apr)
Genome-wide association study of atypical psychosis.
Kanazawa T, Ikeda M, Glatt SJ, Tsutsumi A, Kikuyama H, Kawamura Y, Nishida N, Miyagawa T, Hashimoto R, Takeda M, Sasaki T, Tokunaga K, Koh J, Iwata N, Yoneda H
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics162B(7)679-86(2013 Oct)
Genome-wide association study identifies germline polymorphisms associated with relapse of childhood acute lymphoblastic leukemia.
Yang JJ, Cheng C, Devidas M, Cao X, Campana D, Yang W, Fan Y, Neale G, Cox N, Scheet P, Borowitz MJ, Winick NJ, Martin PL, Bowman WP, Camitta B, Reaman GH, Carroll WL, Willman CL, Hunger SP, Evans WE, Pui CH, Loh M, Relling MV
Blood120(20)4197-204(2012 Nov)
Acetylation negatively regulates glycogen phosphorylase by recruiting protein phosphatase 1.
Zhang T, Wang S, Lin Y, Xu W, Ye D, Xiong Y, Zhao S, Guan KL
Cell metabolism15(1)75-87(2012 Jan)
Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.
Flachsbart F, Franke A, Kleindorp R, Caliebe A, Blanch? H, Schreiber S, Nebel A
Mutation research694(1-2)13-9(2010 Dec)
GeneRIFs: Gene References Into Functions What's a GeneRIF?
Observational study of gene-disease association. (HuGE Navigator)
Title: Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Deficiency of liver glycogen phosphorylase is predominantly the result of missense mutations affecting enzyme activity. There are no common mutations and the severity of clinical symptoms varies significantly.
Title: High frequency of missense mutations in glycogen storage disease type VI.
Susceptibility to excessive liver glycogen storage in patients with type 1 diabetes.
Title: Intermittent and recurrent hepatomegaly due to glycogen storage in a patient with type 1 diabetes: genetic analysis of the liver glycogen phosphorylase gene (PYGL).
The following PYGL gene cDNA ORF clone sequences were retrieved from the NCBI Reference Sequence Database (RefSeq). These sequences represent the protein coding region of the PYGL cDNA ORF which is encoded by the open reading frame (ORF) sequence. ORF sequences can be delivered in our standard vector, pcDNA3.1+/C-(K)DYK or the vector of your choice as an expression/transfection-ready ORF clone. Not the clone you want? Click here to find your clone.
| CloneID | OHu19505 |
|
| Clone ID Related Accession (Same CDS sequence) | NM_002863.4 , NM_002863.5 | |
| Accession Version | NM_002863.4 | Documents for ORF clone product in default vector |
| Sequence Information | ORF Nucleotide Sequence (Length: 2544bp) Protein sequence SNP |
|
| Vector | pcDNA3.1+/C-(K)DYK or customized vector |  User Manual |
| Clone information | Clone Map | MSDS |
| Tag on pcDNA3.1+/C-(K)DYK | C terminal DYKDDDDK tags | |
| ORF Insert Method | CloneEZ™ Seamless cloning technology | |
| Insert Structure | linear | |
| Update Date | 2017-10-01 | |
| Organism | Homo sapiens(human) | |
| Product | glycogen phosphorylase, liver form isoform 1 | |
| Comment | Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from DA287767.1, BC095850.1 and AA523002.1. This sequence is a reference standard in the RefSeqGene project. On Aug 7, 2009 this sequence version replaced NM_002863.3. Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1). Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803615.106036.1, M14636.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. | |
1 | ATGGCGAAGC CCCTGACGGA CCAGGAGAAG CGGCGGCAGA TCAGCATCCG CGGCATCGTG |
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
| RefSeq | NP_002854.3 |
| CDS | 128..2671 |
| Translation |
Target ORF information:
Target ORF information:
|
 NM_002863.4 |
ORF Insert Sequence:
1 | ATGGCGAAGC CCCTGACGGA CCAGGAGAAG CGGCGGCAGA TCAGCATCCG CGGCATCGTG |
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
| CloneID | OHu19505 |
|
| Clone ID Related Accession (Same CDS sequence) | NM_002863.4 , NM_002863.5 | |
| Accession Version | NM_002863.5 Latest version! | Documents for ORF clone product in default vector |
| Sequence Information | ORF Nucleotide Sequence (Length: 2544bp) Protein sequence SNP |
|
| Vector | pcDNA3.1+/C-(K)DYK or customized vector | User Manual |
| Clone information | Clone Map | MSDS |
| Tag on pcDNA3.1+/C-(K)DYK | C terminal DYKDDDDK tags | |
| ORF Insert Method | CloneEZ™ Seamless cloning technology | |
| Insert Structure | linear | |
| Update Date | 2019-07-05 | |
| Organism | Homo sapiens(human) | |
| Product | glycogen phosphorylase, liver form isoform 1 | |
| Comment | Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from BC095850.1 and AA523002.1. On Nov 22, 2018 this sequence version replaced NM_002863.4. Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1). Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK225904.1, BC095850.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000216392.8/ ENSP00000216392.7 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## COMPLETENESS: full length. | |
1 | ATGGCGAAGC CCCTGACGGA CCAGGAGAAG CGGCGGCAGA TCAGCATCCG CGGCATCGTG |
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
| RefSeq | NP_002854.3 |
| CDS | 81..2624 |
| Translation |
Target ORF information:
Target ORF information:
|
NM_002863.5 |
ORF Insert Sequence:
1 | ATGGCGAAGC CCCTGACGGA CCAGGAGAAG CGGCGGCAGA TCAGCATCCG CGGCATCGTG |
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
| CloneID | OHu16439 | |
| Clone ID Related Accession (Same CDS sequence) | NM_001163940.1 , NM_001163940.2 | |
| Accession Version | NM_001163940.1 | Documents for ORF clone product in default vector |
| Sequence Information | ORF Nucleotide Sequence (Length: 2442bp) Protein sequence SNP |
|
| Vector | pcDNA3.1+/C-(K)DYK or customized vector | User Manual |
| Clone information | Clone Map | MSDS |
| Tag on pcDNA3.1+/C-(K)DYK | C terminal DYKDDDDK tags | |
| ORF Insert Method | CloneEZ™ Seamless cloning technology | |
| Insert Structure | linear | |
| Update Date | 2019-02-21 | |
| Organism | Homo sapiens(human) | |
| Product | glycogen phosphorylase, liver form isoform 2 | |
| Comment | Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from DA287767.1, BC095850.1 and AA523002.1. Transcript Variant: This variant (2) lacks in an in-frame exon in the 5' coding region, compared to variant 1, which results in a shorter isoform (2), compared to isoform 1. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK300580.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. | |
1 | ATGGCGAAGC CCCTGACGGA CCAGGAGAAG CGGCGGCAGA TCAGCATCCG CGGCATCGTG |
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
| RefSeq | NP_001157412.1 |
| CDS | 128..2569 |
| Translation |
Target ORF information:
Target ORF information:
|
NM_001163940.1 |
ORF Insert Sequence:
1 | ATGGCGAAGC CCCTGACGGA CCAGGAGAAG CGGCGGCAGA TCAGCATCCG CGGCATCGTG |
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
| CloneID | OHu16439 | |
| Clone ID Related Accession (Same CDS sequence) | NM_001163940.1 , NM_001163940.2 | |
| Accession Version | NM_001163940.2 Latest version! | Documents for ORF clone product in default vector |
| Sequence Information | ORF Nucleotide Sequence (Length: 2442bp) Protein sequence SNP |
|
| Vector | pcDNA3.1+/C-(K)DYK or customized vector | User Manual |
| Clone information | Clone Map | MSDS |
| Tag on pcDNA3.1+/C-(K)DYK | C terminal DYKDDDDK tags | |
| ORF Insert Method | CloneEZ™ Seamless cloning technology | |
| Insert Structure | linear | |
| Update Date | 2019-05-30 | |
| Organism | Homo sapiens(human) | |
| Product | glycogen phosphorylase, liver form isoform 2 | |
| Comment | Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from BC095850.1 and AA523002.1. On May 31, 2019 this sequence version replaced NM_001163940.1. Transcript Variant: This variant (2) lacks in an in-frame exon in the 5' coding region, compared to variant 1, which results in a shorter isoform (2), compared to isoform 1. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK300580.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. | |
1 | ATGGCGAAGC CCCTGACGGA CCAGGAGAAG CGGCGGCAGA TCAGCATCCG CGGCATCGTG |
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
| RefSeq | NP_001157412.1 |
| CDS | 81..2522 |
| Translation |
Target ORF information:
Target ORF information:
|
NM_001163940.2 |
ORF Insert Sequence:
1 | ATGGCGAAGC CCCTGACGGA CCAGGAGAAG CGGCGGCAGA TCAGCATCCG CGGCATCGTG |
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
 |
Widespread macromolecular interaction perturbations in human genetic disorders. |
|
Genome-wide association study of atypical psychosis. |
|
Genome-wide association study identifies germline polymorphisms associated with relapse of childhood acute lymphoblastic leukemia. |
|
Acetylation negatively regulates glycogen phosphorylase by recruiting protein phosphatase 1. |
|
Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. |