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P11217

- PYGM_HUMAN

UniProt

P11217 - PYGM_HUMAN

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Protein
Glycogen phosphorylase, muscle form
Gene
PYGM
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Phosphorylase is an important allosteric enzyme in carbohydrate metabolism. Enzymes from different sources differ in their regulatory mechanisms and in their natural substrates. However, all known phosphorylases share catalytic and structural properties.

Catalytic activityi

((1->4)-alpha-D-glucosyl)(n) + phosphate = ((1->4)-alpha-D-glucosyl)(n-1) + alpha-D-glucose 1-phosphate.

Cofactori

Pyridoxal phosphate.

Enzyme regulationi

Activity of phosphorylase is controlled both by allosteric means (through the noncovalent binding of metabolites) and by covalent modification. Thus AMP allosterically activates, whereas ATP, ADP, and glucose-6-phosphate allosterically inhibit, phosphorylase B.

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Binding sitei76 – 761AMP By similarity
Sitei109 – 1091Involved in the association of subunits By similarity
Sitei143 – 1431Involved in the association of subunits By similarity
Sitei156 – 1561May be involved in allosteric control By similarity

GO - Molecular functioni

  1. glycogen phosphorylase activity Source: ProtInc
  2. nucleotide binding Source: UniProtKB-KW
  3. pyridoxal phosphate binding Source: InterPro

GO - Biological processi

  1. carbohydrate metabolic process Source: Reactome
  2. glucose metabolic process Source: Reactome
  3. glycogen catabolic process Source: Reactome
  4. glycogen metabolic process Source: ProtInc
  5. small molecule metabolic process Source: Reactome
Complete GO annotation...

Keywords - Molecular functioni

Glycosyltransferase, Transferase

Keywords - Biological processi

Carbohydrate metabolism, Glycogen metabolism

Keywords - Ligandi

Nucleotide-binding, Pyridoxal phosphate

Enzyme and pathway databases

BioCyciMetaCyc:HS00949-MONOMER.
ReactomeiREACT_1008. Glycogen breakdown (glycogenolysis).

Protein family/group databases

CAZyiGT35. Glycosyltransferase Family 35.

Names & Taxonomyi

Protein namesi
Recommended name:
Glycogen phosphorylase, muscle form (EC:2.4.1.1)
Alternative name(s):
Myophosphorylase
Gene namesi
Name:PYGM
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 11

Organism-specific databases

HGNCiHGNC:9726. PYGM.

Subcellular locationi

GO - Cellular componenti

  1. cytosol Source: Reactome
Complete GO annotation...

Pathology & Biotechi

Involvement in diseasei

Glycogen storage disease 5 (GSD5) [MIM:232600]: A metabolic disorder resulting in myopathy characterized by exercise intolerance, cramps, muscle weakness and recurrent myoglobinuria.
Note: The disease is caused by mutations affecting the gene represented in this entry.13 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti116 – 1161L → P in GSD5. 2 Publications
VAR_014002
Natural varianti194 – 1941R → W in GSD5. 1 Publication
VAR_014003
Natural varianti205 – 2051G → S in GSD5. 5 Publications
Corresponds to variant rs119103251 [ dbSNP | Ensembl ].
VAR_003431
Natural varianti292 – 2921L → P in GSD5; rare mutation. 1 Publication
VAR_014004
Natural varianti349 – 3491E → K in GSD5. 1 Publication
VAR_014005
Natural varianti397 – 3971L → P in GSD5. 2 Publications
VAR_003432
Natural varianti488 – 4881T → N in GSD5. 2 Publications
VAR_014006
Natural varianti543 – 5431K → T in GSD5. 2 Publications
VAR_003433
Natural varianti602 – 6021R → W in GSD5. 1 Publication
VAR_014007
Natural varianti655 – 6551E → K in GSD5. 2 Publications
VAR_003434
Natural varianti660 – 6601A → D in GSD5. 2 Publications
VAR_014008
Natural varianti666 – 6661Q → E in GSD5. 1 Publication
VAR_014009
Natural varianti685 – 6851N → Y in GSD5. 2 Publications
VAR_014010
Natural varianti686 – 6861G → R in GSD5. 1 Publication
VAR_014011
Natural varianti687 – 6871A → P in GSD5. 1 Publication
VAR_014012
Natural varianti704 – 7041A → V in GSD5. 1 Publication
VAR_014013
Natural varianti709 – 7091Missing in GSD5; common in Japanese patients. 1 Publication
VAR_014014
Natural varianti798 – 7981W → R in GSD5. 3 Publications
VAR_014015

Keywords - Diseasei

Disease mutation, Glycogen storage disease

Organism-specific databases

MIMi232600. phenotype.
Orphaneti368. Glycogen storage disease due to muscle glycogen phosphorylase deficiency.
PharmGKBiPA34069.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Initiator methioninei1 – 11Removed By similarity
Chaini2 – 842841Glycogen phosphorylase, muscle form
PRO_0000188529Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei2 – 21N-acetylserine By similarity
Modified residuei15 – 151Phosphoserine; by PHK; in form phosphorylase A1 Publication
Modified residuei473 – 4731Phosphotyrosine By similarity
Modified residuei681 – 6811N6-(pyridoxal phosphate)lysine By similarity

Post-translational modificationi

Phosphorylation of Ser-15 converts phosphorylase B (unphosphorylated) to phosphorylase A.1 Publication

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

MaxQBiP11217.
PaxDbiP11217.
PRIDEiP11217.

PTM databases

PhosphoSiteiP11217.

Expressioni

Gene expression databases

BgeeiP11217.
CleanExiHS_PYGM.
GenevestigatoriP11217.

Organism-specific databases

HPAiHPA056003.

Interactioni

Subunit structurei

Homodimer. Dimers associate into a tetramer to form the enzymatically active phosphorylase A.

Protein-protein interaction databases

BioGridi111795. 8 interactions.
IntActiP11217. 21 interactions.
MINTiMINT-1134630.
STRINGi9606.ENSP00000164139.

Structurei

Secondary structure

Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi7 – 104
Helixi11 – 133
Helixi25 – 3814
Turni44 – 463
Helixi49 – 7830
Beta strandi82 – 865
Helixi96 – 1027
Helixi106 – 1149
Turni115 – 1173
Helixi120 – 1267
Helixi136 – 15015
Beta strandi155 – 1606
Beta strandi168 – 1725
Beta strandi175 – 1795
Turni183 – 1864
Helixi195 – 1973
Beta strandi199 – 2046
Beta strandi206 – 2105
Beta strandi213 – 2186
Beta strandi220 – 23213
Beta strandi234 – 2363
Beta strandi239 – 24810
Helixi263 – 2708
Helixi271 – 2777
Helixi291 – 31323
Helixi330 – 3334
Beta strandi334 – 3418
Turni342 – 3454
Helixi346 – 35611
Helixi362 – 37211
Beta strandi373 – 3764
Helixi382 – 3843
Beta strandi387 – 3893
Helixi390 – 3967
Helixi398 – 41821
Helixi423 – 4297
Beta strandi431 – 4333
Beta strandi435 – 4373
Beta strandi439 – 4413
Helixi442 – 4487
Beta strandi451 – 4577
Helixi458 – 4669
Turni467 – 4693
Helixi470 – 4756
Helixi477 – 4793
Beta strandi480 – 4823
Helixi490 – 4956
Helixi498 – 50811
Helixi511 – 5144
Helixi516 – 52510
Helixi529 – 55325
Beta strandi562 – 5698
Turni573 – 5764
Helixi577 – 59317
Beta strandi602 – 6076
Helixi615 – 63117
Turni635 – 6373
Helixi638 – 6403
Beta strandi641 – 6466
Helixi651 – 6577
Helixi658 – 6603
Beta strandi662 – 6665
Turni670 – 6723
Helixi678 – 6847
Beta strandi688 – 6914
Helixi697 – 7048
Helixi706 – 7083
Beta strandi709 – 7113
Helixi716 – 72510
Helixi730 – 7334
Helixi737 – 74812
Turni749 – 7513
Turni756 – 7594
Helixi760 – 7689
Helixi774 – 79219
Helixi795 – 80612
Helixi810 – 8123
Helixi814 – 82411

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
1Z8DX-ray2.30A1-842[»]
ProteinModelPortaliP11217.
SMRiP11217. Positions 3-837.

Miscellaneous databases

EvolutionaryTraceiP11217.

Family & Domainsi

Sequence similaritiesi

Phylogenomic databases

eggNOGiCOG0058.
HOGENOMiHOG000278444.
HOVERGENiHBG006848.
InParanoidiP11217.
KOiK00688.
OMAiCHTVNGV.
OrthoDBiEOG7JQBMK.
PhylomeDBiP11217.
TreeFamiTF300309.

Family and domain databases

InterProiIPR011833. Glycg_phsphrylas.
IPR000811. Glyco_trans_35.
[Graphical view]
PANTHERiPTHR11468. PTHR11468. 1 hit.
PfamiPF00343. Phosphorylase. 1 hit.
[Graphical view]
PIRSFiPIRSF000460. Pprylas_GlgP. 1 hit.
TIGRFAMsiTIGR02093. P_ylase. 1 hit.
PROSITEiPS00102. PHOSPHORYLASE. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: P11217-1) [UniParc]FASTAAdd to Basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

MSRPLSDQEK RKQISVRGLA GVENVTELKK NFNRHLHFTL VKDRNVATPR    50
DYYFALAHTV RDHLVGRWIR TQQHYYEKDP KRIYYLSLEF YMGRTLQNTM 100
VNLALENACD EATYQLGLDM EELEEIEEDA GLGNGGLGRL AACFLDSMAT 150
LGLAAYGYGI RYEFGIFNQK ISGGWQMEEA DDWLRYGNPW EKARPEFTLP 200
VHFYGHVEHT SQGAKWVDTQ VVLAMPYDTP VPGYRNNVVN TMRLWSAKAP 250
NDFNLKDFNV GGYIQAVLDR NLAENISRVL YPNDNFFEGK ELRLKQEYFV 300
VAATLQDIIR RFKSSKFGCR DPVRTNFDAF PDKVAIQLND THPSLAIPEL 350
MRILVDLERM DWDKAWDVTV RTCAYTNHTV LPEALERWPV HLLETLLPRH 400
LQIIYEINQR FLNRVAAAFP GDVDRLRRMS LVEEGAVKRI NMAHLCIAGS 450
HAVNGVARIH SEILKKTIFK DFYELEPHKF QNKTNGITPR RWLVLCNPGL 500
AEVIAERIGE DFISDLDQLR KLLSFVDDEA FIRDVAKVKQ ENKLKFAAYL 550
EREYKVHINP NSLFDIQVKR IHEYKRQLLN CLHVITLYNR IKREPNKFFV 600
PRTVMIGGKA APGYHMAKMI IRLVTAIGDV VNHDPAVGDR LRVIFLENYR 650
VSLAEKVIPA ADLSEQISTA GTEASGTGNM KFMLNGALTI GTMDGANVEM 700
AEEAGEENFF IFGMRVEDVD KLDQRGYNAQ EYYDRIPELR QVIEQLSSGF 750
FSPKQPDLFK DIVNMLMHHD RFKVFADYED YIKCQEKVSA LYKNPREWTR 800
MVIRNIATSG KFSSDRTIAQ YAREIWGVEP SRQRLPAPDE AI 842
Length:842
Mass (Da):97,092
Last modified:January 23, 2007 - v6
Checksum:iEBDB7D80D740B68F
GO
Isoform 2 (identifier: P11217-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     82-169: Missing.

Note: No experimental confirmation available.

Show »
Length:754
Mass (Da):87,317
Checksum:iF5C64CA460DA3FC9
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti116 – 1161L → P in GSD5. 2 Publications
VAR_014002
Natural varianti194 – 1941R → W in GSD5. 1 Publication
VAR_014003
Natural varianti205 – 2051G → S in GSD5. 5 Publications
Corresponds to variant rs119103251 [ dbSNP | Ensembl ].
VAR_003431
Natural varianti292 – 2921L → P in GSD5; rare mutation. 1 Publication
VAR_014004
Natural varianti349 – 3491E → K in GSD5. 1 Publication
VAR_014005
Natural varianti397 – 3971L → P in GSD5. 2 Publications
VAR_003432
Natural varianti414 – 4141R → G.
Corresponds to variant rs11231866 [ dbSNP | Ensembl ].
VAR_061198
Natural varianti488 – 4881T → N in GSD5. 2 Publications
VAR_014006
Natural varianti543 – 5431K → T in GSD5. 2 Publications
VAR_003433
Natural varianti602 – 6021R → W in GSD5. 1 Publication
VAR_014007
Natural varianti655 – 6551E → K in GSD5. 2 Publications
VAR_003434
Natural varianti660 – 6601A → D in GSD5. 2 Publications
VAR_014008
Natural varianti666 – 6661Q → E in GSD5. 1 Publication
VAR_014009
Natural varianti685 – 6851N → Y in GSD5. 2 Publications
VAR_014010
Natural varianti686 – 6861G → R in GSD5. 1 Publication
VAR_014011
Natural varianti687 – 6871A → P in GSD5. 1 Publication
VAR_014012
Natural varianti704 – 7041A → V in GSD5. 1 Publication
VAR_014013
Natural varianti709 – 7091Missing in GSD5; common in Japanese patients. 1 Publication
VAR_014014
Natural varianti798 – 7981W → R in GSD5. 3 Publications
VAR_014015

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei82 – 16988Missing in isoform 2.
VSP_043047Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti791 – 7911L → W in AAA60231. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
M32598
, M32579, M32580, M32581, M32582, M32583, M32584, M32585, M32586, M32587, M32588, M32589, M32590, M32591, M32592, M32593, M32594, M32595, M32596, M32597 Genomic DNA. Translation: AAA60231.1.
U94777
, U94774, U94775, U94776 Genomic DNA. Translation: AAC52081.1.
AF066859 mRNA. Translation: AAC17451.1.
AK056607 mRNA. Translation: BAG51762.1.
AP001462 Genomic DNA. No translation available.
CH471076 Genomic DNA. Translation: EAW74284.1.
BC126392 mRNA. Translation: AAI26393.1.
BC130514 mRNA. Translation: AAI30515.1.
X03031 mRNA. Translation: CAA26834.1.
M16013 mRNA. Translation: AAA36216.1.
CCDSiCCDS53659.1. [P11217-2]
CCDS8079.1. [P11217-1]
PIRiA27335.
RefSeqiNP_001158188.1. NM_001164716.1. [P11217-2]
NP_005600.1. NM_005609.2. [P11217-1]
UniGeneiHs.154084.

Genome annotation databases

EnsembliENST00000164139; ENSP00000164139; ENSG00000068976. [P11217-1]
ENST00000377432; ENSP00000366650; ENSG00000068976. [P11217-2]
GeneIDi5837.
KEGGihsa:5837.
UCSCiuc001oax.4. human. [P11217-1]
uc001oay.4. human. [P11217-2]

Polymorphism databases

DMDMi3041717.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
M32598
, M32579 , M32580 , M32581 , M32582 , M32583 , M32584 , M32585 , M32586 , M32587 , M32588 , M32589 , M32590 , M32591 , M32592 , M32593 , M32594 , M32595 , M32596 , M32597 Genomic DNA. Translation: AAA60231.1 .
U94777
, U94774 , U94775 , U94776 Genomic DNA. Translation: AAC52081.1 .
AF066859 mRNA. Translation: AAC17451.1 .
AK056607 mRNA. Translation: BAG51762.1 .
AP001462 Genomic DNA. No translation available.
CH471076 Genomic DNA. Translation: EAW74284.1 .
BC126392 mRNA. Translation: AAI26393.1 .
BC130514 mRNA. Translation: AAI30515.1 .
X03031 mRNA. Translation: CAA26834.1 .
M16013 mRNA. Translation: AAA36216.1 .
CCDSi CCDS53659.1. [P11217-2 ]
CCDS8079.1. [P11217-1 ]
PIRi A27335.
RefSeqi NP_001158188.1. NM_001164716.1. [P11217-2 ]
NP_005600.1. NM_005609.2. [P11217-1 ]
UniGenei Hs.154084.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
1Z8D X-ray 2.30 A 1-842 [» ]
ProteinModelPortali P11217.
SMRi P11217. Positions 3-837.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 111795. 8 interactions.
IntActi P11217. 21 interactions.
MINTi MINT-1134630.
STRINGi 9606.ENSP00000164139.

Chemistry

BindingDBi P11217.
ChEMBLi CHEMBL3526.
DrugBanki DB00114. Pyridoxal Phosphate.

Protein family/group databases

CAZyi GT35. Glycosyltransferase Family 35.

PTM databases

PhosphoSitei P11217.

Polymorphism databases

DMDMi 3041717.

Proteomic databases

MaxQBi P11217.
PaxDbi P11217.
PRIDEi P11217.

Protocols and materials databases

DNASUi 5837.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000164139 ; ENSP00000164139 ; ENSG00000068976 . [P11217-1 ]
ENST00000377432 ; ENSP00000366650 ; ENSG00000068976 . [P11217-2 ]
GeneIDi 5837.
KEGGi hsa:5837.
UCSCi uc001oax.4. human. [P11217-1 ]
uc001oay.4. human. [P11217-2 ]

Organism-specific databases

CTDi 5837.
GeneCardsi GC11M064513.
GeneReviewsi PYGM.
HGNCi HGNC:9726. PYGM.
HPAi HPA056003.
MIMi 232600. phenotype.
608455. gene.
neXtProti NX_P11217.
Orphaneti 368. Glycogen storage disease due to muscle glycogen phosphorylase deficiency.
PharmGKBi PA34069.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0058.
HOGENOMi HOG000278444.
HOVERGENi HBG006848.
InParanoidi P11217.
KOi K00688.
OMAi CHTVNGV.
OrthoDBi EOG7JQBMK.
PhylomeDBi P11217.
TreeFami TF300309.

Enzyme and pathway databases

BioCyci MetaCyc:HS00949-MONOMER.
Reactomei REACT_1008. Glycogen breakdown (glycogenolysis).

Miscellaneous databases

EvolutionaryTracei P11217.
GenomeRNAii 5837.
NextBioi 22746.
PROi P11217.
SOURCEi Search...

Gene expression databases

Bgeei P11217.
CleanExi HS_PYGM.
Genevestigatori P11217.

Family and domain databases

InterProi IPR011833. Glycg_phsphrylas.
IPR000811. Glyco_trans_35.
[Graphical view ]
PANTHERi PTHR11468. PTHR11468. 1 hit.
Pfami PF00343. Phosphorylase. 1 hit.
[Graphical view ]
PIRSFi PIRSF000460. Pprylas_GlgP. 1 hit.
TIGRFAMsi TIGR02093. P_ylase. 1 hit.
PROSITEi PS00102. PHOSPHORYLASE. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Intron/exon structure of the human gene for the muscle isozyme of glycogen phosphorylase."
    Burke J., Hwang P.K., Anderson L., Lebo R., Gorin F., Fletterick R.J.
    Proteins 2:177-187(1987) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  2. "Molecular diagnosis of McArdle disease: revised genomic structure of the myophosphorylase gene and identification of a novel mutation."
    Kubisch C., Wicklein E.M., Jentsch T.J.
    Hum. Mutat. 12:27-32(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  3. Carty M.D., Clancy Y.C., Soeller W.C.
    Submitted (MAY-1998) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    Tissue: Muscle.
  4. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    Tissue: Tongue.
  5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  7. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
  8. "Comparative sequence analysis of rat, rabbit, and human muscle glycogen phosphorylase cDNAs."
    Hwang P.K., See Y.P., Vincentini A.M., Powers M.A., Fletterick R.J., Crerar M.M.
    Eur. J. Biochem. 152:267-274(1985) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 676-842 (ISOFORM 1).
  9. "Molecular mechanisms of McArdle's disease (muscle glycogen phosphorylase deficiency). RNA and DNA analysis."
    Gautron S., Daegelen D., Mennecier F., Dubocq D., Kahn A., Dreyfus J.-C.
    J. Clin. Invest. 79:275-281(1987) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 455-676 (ISOFORM 1).
  10. "Regulation of glycogen phosphorylase. Role of the peptide region surrounding the phosphoserine residue in determining enzyme properties."
    Carty T.J., Tu J., Graves D.J.
    J. Biol. Chem. 250:4980-4985(1975) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION AT SER-15.
  11. "Molecular genetic heterogeneity of myophosphorylase deficiency (McArdle's disease)."
    Tsujino S., Shanske S., Dimauro S.
    N. Engl. J. Med. 329:241-245(1993) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS GSD5 SER-205 AND THR-543.
  12. "Two novel missense mutations (E654K, L396P) in Caucasian patients with myophosphorylase deficiency (McArdle's disease)."
    Tsujino S., Shanske S., Martinuzzi A., Heiman-Patterson T., Dimauro S.
    Hum. Mutat. 6:276-277(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS GSD5 PRO-397 AND LYS-655.
  13. "The molecular genetic basis of myophosphorylase deficiency (McArdle's disease)."
    Tsujino S., Shanske S., Nonaka I., DiMauro S.
    Muscle Nerve 3:S23-S27(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS GSD5 SER-205; PRO-292; PRO-397; THR-543; LYS-655 AND PHE-709 DEL.
  14. Cited for: VARIANTS GSD5 GLU-666 AND ARG-686.
  15. "A new mutation in the regulatory domain of the myophosphorylase gene affecting protein dimer contact."
    Gamez J., Fernandez R., Bruno C., Andreu A.L., Cervera C., Navarro C., Schwartz S., Dimauro S.
    Muscle Nerve 22:1136-1138(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT GSD5 PRO-116.
  16. "A new mutation in the myophosphorylase gene (Asn684Tyr) in a Spanish patient with McArdle's disease."
    Andreu A.L., Bruno C., Tamburino L., Gamez J., Shanske S., Cervera C., Navarro C., DiMauro S.
    Neuromuscul. Disord. 9:171-173(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS GSD5 SER-205 AND TYR-685.
  17. "McArdle's disease associated with homozygosity for the missense mutation Gly204Ser of the myophosphorylase gene in a Spanish patient."
    Rubio J.C., Martin M.A., Garcia A., Campos Y., Cabello A., Culebras J.M., Arenas J.
    Neuromuscul. Disord. 9:174-175(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT GSD5 SER-205.
  18. "A novel missense mutation (W797R) in the myophosphorylase gene in Spanish patients with McArdle disease."
    Fernandez R., Navarro C., Andreu A.L., Bruno C., Shanske S., Gamez J., Teijeira S., Hernandez I., Teijeiro A., Fernandez J.M., Musumeci O., DiMauro S.
    Arch. Neurol. 57:217-219(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT GSD5 ARG-798.
  19. "A missense mutation W797R in the myophosphorylase gene in a Spanish patient with McArdle's disease."
    Rubio J.C., Martin M.A., Campos Y., Auciello R., Cabello A., Arenas J.
    Muscle Nerve 23:129-131(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT GSD5 ARG-798.
  20. "A missense mutation T487N in the myophosphorylase gene in a Spanish patient with McArdle's disease."
    Rubio J.C., Martin M.A., Campos Y., Cabello A., Arenas J.
    Neuromuscul. Disord. 10:138-140(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT GSD5 ASN-488.
  21. "A homozygous missense mutation (A659D) in the myophosphorylase gene in a Spanish patient with McArdle's disease."
    Martin M.A., Rubio J.C., Campos Y., Ricoy J.R., Cabello A., Arenas J.
    Neuromuscul. Disord. 10:447-449(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT GSD5 ASP-660.
  22. Cited for: VARIANTS GSD5 PRO-116; TRP-194; SER-205; LYS-349; ASN-488; TRP-602; ASP-660; TYR-685; VAL-704 AND ARG-798.
  23. "Two new mutations in the myophosphorylase gene in Italian patients with McArdle's disease."
    Bruno C., Lanzillo R., Biedi C., Iadicicco L., Minetti C., Santoro L.
    Neuromuscul. Disord. 12:498-500(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT GSD5 PRO-687.

Entry informationi

Entry nameiPYGM_HUMAN
AccessioniPrimary (citable) accession number: P11217
Secondary accession number(s): A0AVK1, A6NDY6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 1, 1989
Last sequence update: January 23, 2007
Last modified: September 3, 2014
This is version 176 of the entry and version 6 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Allosteric enzyme, Complete proteome, Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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