Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	5236
Gene name Gene Name - the full gene name approved by the HGNC.	Phosphoglucomutase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	PGM1
Synonyms (NCBI Gene) Gene synonyms aliases	CDG1T, GSD14
Chromosome Chromosome number	1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	1p31.3
Summary Summary of gene provided in NCBI Entrez Gene.	The protein encoded by this gene is an isozyme of phosphoglucomutase (PGM) and belongs to the phosphohexose mutase family. There are several PGM isozymes, which are encoded by different genes and catalyze the transfer of phosphate between the 1 and 6 posi

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SNP ID	Visualize variation	Clinical significance	Consequence
rs121918371	A>C,G	Pathogenic	5 prime UTR variant, missense variant, coding sequence variant
rs397515423	C>T	Pathogenic	Coding sequence variant, stop gained
rs398122912	G>A,C,T	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs587776801	G>C	Pathogenic	Splice acceptor variant
rs587777401	T>C,G	Pathogenic	Coding sequence variant, missense variant
rs587777402	A>T	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant, upstream transcript variant
rs587777403	G>C	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant, upstream transcript variant
rs587777404	G>T	Pathogenic	Coding sequence variant, missense variant
rs587777405	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs763428801	TC>-	Pathogenic	Frameshift variant, coding sequence variant
rs770066171	C>T	Pathogenic	Stop gained, coding sequence variant
rs1170935238	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1302961946	T>A,C	Likely-pathogenic	Synonymous variant, coding sequence variant, stop gained
rs1557437034	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1557445467	C>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1570463842	CC>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant, upstream transcript variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT005175	hsa-miR-30a-5p	pSILAC	18668040
MIRT002597	hsa-miR-124-3p	Microarray	15685193
MIRT002597	hsa-miR-124-3p	Microarray	18668037
MIRT002597	hsa-miR-124-3p	Microarray	15685193
MIRT005175	hsa-miR-30a-5p	Proteomics;Other	18668040
MIRT052231	hsa-let-7b-5p	CLASH	23622248
MIRT1227548	hsa-miR-124	CLIP-seq
MIRT1227549	hsa-miR-3125	CLIP-seq
MIRT1227550	hsa-miR-3133	CLIP-seq
MIRT1227551	hsa-miR-3147	CLIP-seq
MIRT1227552	hsa-miR-33a	CLIP-seq
MIRT1227553	hsa-miR-33b	CLIP-seq
MIRT1227554	hsa-miR-3916	CLIP-seq
MIRT1227555	hsa-miR-3940-5p	CLIP-seq
MIRT1227556	hsa-miR-4257	CLIP-seq
MIRT1227557	hsa-miR-4425	CLIP-seq
MIRT1227558	hsa-miR-4507	CLIP-seq
MIRT1227559	hsa-miR-4511	CLIP-seq
MIRT1227560	hsa-miR-4520a-3p	CLIP-seq
MIRT1227561	hsa-miR-4520b-3p	CLIP-seq
MIRT1227562	hsa-miR-4666-5p	CLIP-seq
MIRT1227563	hsa-miR-506	CLIP-seq
MIRT1227564	hsa-miR-509-3p	CLIP-seq
MIRT1227564	hsa-miR-509-3p	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0000287	Function	Magnesium ion binding	IDA	26972339
GO:0000287	Function	Magnesium ion binding	IEA
GO:0004614	Function	Phosphoglucomutase activity	IBA
GO:0004614	Function	Phosphoglucomutase activity	IDA	1530890, 25288802, 30982613
GO:0004614	Function	Phosphoglucomutase activity	IEA
GO:0004614	Function	Phosphoglucomutase activity	TAS	8257433
GO:0005515	Function	Protein binding	IPI	21044950
GO:0005576	Component	Extracellular region	TAS
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	NAS	1530890
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	TAS
GO:0005975	Process	Carbohydrate metabolic process	IBA
GO:0005975	Process	Carbohydrate metabolic process	IEA
GO:0006006	Process	Glucose metabolic process	IDA	25288802
GO:0006006	Process	Glucose metabolic process	IEA
GO:0006006	Process	Glucose metabolic process	IEA
GO:0006006	Process	Glucose metabolic process	NAS	1530890
GO:0006094	Process	Gluconeogenesis	TAS	8257433
GO:0006096	Process	Glycolytic process	TAS	8257433
GO:0016853	Function	Isomerase activity	IEA
GO:0016868	Function	Intramolecular phosphotransferase activity	IEA
GO:0033499	Process	Galactose catabolic process via UDP-galactose, Leloir pathway	IMP	30982613
GO:0046872	Function	Metal ion binding	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145
GO:1904724	Component	Tertiary granule lumen	TAS
GO:1904813	Component	Ficolin-1-rich granule lumen	TAS

MIM	HGNC	e!Ensembl
171900	8905	ENSG00000079739

Protein

UniProt ID

P36871

Protein name

Phosphoglucomutase-1 (PGM 1) (EC 5.4.2.2) (Glucose phosphomutase 1)

Protein function

Catalyzes the reversible isomerization of alpha-D-glucose 1-phosphate to alpha-D-glucose 6-phosphate (PubMed:15378030, PubMed:25288802). The mechanism proceeds via the intermediate compound alpha-D-glucose 1,6-bisphosphate (Probable) (PubMed:252

PDB

5EPC , 5F9C , 5HSH , 5JN5 , 5TR2 , 5VBI , 5VEC , 5VG7 , 5VIN , 6SNO , 6SNP , 6SNQ , 6UIQ , 6UO6 , 7S0W , 7S77

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02878	PGM_PMM_I	14 → 158	Phosphoglucomutase/phosphomannomutase, alpha/beta/alpha domain I	Domain
PF02879	PGM_PMM_II	193 → 301	Phosphoglucomutase/phosphomannomutase, alpha/beta/alpha domain II	Domain
PF02880	PGM_PMM_III	306 → 420	Phosphoglucomutase/phosphomannomutase, alpha/beta/alpha domain III	Domain
PF00408	PGM_PMM_IV	434 → 539	Phosphoglucomutase/phosphomannomutase, C-terminal domain	Family

Sequence

MVKIVTVKTQAYQDQKPGTSGLRKRVKVFQSSANYAENFIQSIISTVEPAQRQEATLVVG
GDGRFYMKEAIQLIARIAAANGIGRLVIGQNGILSTPAVSCIIRKIKAIGGIILTASHNP
GGPNGDFGIKFNISNGGPAPEAITDKIFQISKTIEEYAVCPDLKVDLGVLGKQQFDLENK
FKPFTVEIVDSVEAYATMLRSIFDFSALKELLSGPNRLKIRIDAMHGVVGPYVKKILCEE
LGAPANSAVNCVPLEDFGGHHPDPNLTYAADLVETMKSGEHDFGAAFDGDGDRNMILGKH
GFFVNPSDSVAVIAANIFSIPYFQQTGVRGFARSMPTSGALDRVASATKIALYETPTGWK
FFGNLMDASKLSLCGEESFGTGSDHIREKDGLWAVLAWLSILATRKQSVEDILKDHWQKY
GRNFFTRYDYEEVEAEGANKMMKDLEALMFDRSFVGKQFSANDKVYTVEKADNFEYSDPV
DGSISRNQGLRLIFTDGSRIVFRLSGTGSAGATIRLYIDSYEKDVAKINQDPQVMLAPLI
SIALKVSQLQERTGRTAPTVIT

Sequence length

562

Interactions

View interactions

	KEGG		Reactome
	Glycolysis / Gluconeogenesis Pentose phosphate pathway Galactose metabolism Purine metabolism Starch and sucrose metabolism Amino sugar and nucleotide sugar metabolism Metabolic pathways Biosynthesis of nucleotide sugars		Glycogen synthesis Defective PGM1 causes PGM1-CDG (CDG1t) Neutrophil degranulation

Show/Hide Unknown Diseases (2)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
congenital disorder of glycosylation	Congenital disorder of glycosylation	N/A	N/A	ClinVar
Diabetes	Type 2 diabetes	N/A	N/A	GWAS

Show/Hide Text Mining Associations (33)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Adenocarcinoma	Associate	34814273
Alzheimer Disease	Associate	24558171
Angiomyolipoma	Associate	29052596
Brain Diseases Metabolic Inborn	Associate	25288802
Cardiomyopathy Dilated	Associate	25288802
Congenital Disorder Of Glycosylation Type In	Associate	36214454
Congenital Disorders of Glycosylation	Associate	26972339, 30122451, 33342467, 35506765, 36579437
Death Sudden Cardiac	Associate	33302605
Diabetes Mellitus Type 2	Associate	19761607
Endometrial Neoplasms	Associate	508567
Genetic Diseases Inborn	Associate	28117557, 35506765
Gerstmann Straussler Scheinker Disease	Associate	36579437
Glycogen Storage Disease	Associate	22899091, 24499211, 26972339, 30122451
Glycogen Storage Disease XIV	Inhibit	24499211, 26972339, 30122451
Glycogen Storage Disease XIV	Associate	25288802, 26972339, 28117557
Hereditary Myopathy with Early Respiratory Failure	Associate	36579437
Histiocytic Sarcoma	Associate	7684194
Hypoglycemia	Associate	36579437
Leukemia Myeloid	Associate	7684194
Leukemia Myeloid Acute	Stimulate	7684194
Metabolism Inborn Errors	Associate	30122451, 35506765
Muscular Atrophy Spinal	Associate	2570155
Muscular Dystrophy Facioscapulohumeral	Associate	2570155
Myopathies Structural Congenital	Associate	33085074
Myopathy with Lactic Acidosis Hereditary	Associate	25288802
Neoplasms	Associate	5259759, 7684194
Perivascular Epithelioid Cell Neoplasms	Associate	29052596
Rhabdomyolysis	Associate	32978841
Signs and Symptoms Respiratory	Associate	33342467
Spinocerebellar Ataxias	Associate	25288802
Teratoma	Associate	6961419
Tuberculosis	Associate	36476775
Uterine Cervical Neoplasms	Associate	35924232

PGM1 (phosphoglucomutase 1)