PGAM1 - phosphoglycerate mutase 1 Gene

Homo sapiens

Also known as PGAMA; PGAM-B; HEL-S-35

Gene ID: 5223 | Gene type: protein coding

About PGAM1

Cytogenetic location: 10q24.1 Genomic coordinates (GRCh38): 10:97,426,191-97,433,444 (from NCBI)

This gene has 3 transcripts (splice variants), 234 orthologues and 3 paralogues. Ubiquitous expression in esophagus (RPKM 137.6), brain (RPKM 137.2) and 25 other tissues.

Summary

The protein encoded by this gene is a mutase that catalyzes the reversible reaction of 3-phosphoglycerate (3-PGA) to 2-phosphoglycerate (2-PGA) in the glycolytic pathway. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]

PGAM1 Products(2)

mRNA	Protein	Name
NM_001317079.2	NP_001304008.1	phosphoglycerate mutase 1 isoform 2
NM_002629.4	NP_002620.1	phosphoglycerate mutase 1 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables 2,3-bisphosphoglycerate-dependent phosphoglycerate mutase activity	IDA IDA: Inferred from direct assay	23653202	GOA
enables bisphosphoglycerate mutase activity	IDA IDA: Inferred from direct assay	23653202	GOA
enables phosphoglycerate mutase activity	EXP EXP: Inferred from Experiment	4827367	GOA
enables phosphoglycerate mutase activity	IDA IDA: Inferred from direct assay	22590500	GOA
enables phosphoglycerate mutase activity	IMP IMP: Inferred from mutant phenotype	12189148	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	16049941	GOA
enables protein kinase binding	IPI IPI: Inferred from physical interaction	12189148	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in canonical glycolysis	IDA IDA: Inferred from direct assay	12189148	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	22590500	GOA
located in cytosol	IDA IDA: Inferred from direct assay	12189148	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PGAM1 Protein Structure

His_Phos_1

0
100
200
254 a.a.

Protein Preferred Names

Protein Names

phosphoglycerate mutase 1

BPG-dependent PGAM 1

PGAM1 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	PGAM1	P18669	UNC5CL	Homo sapiens	Q8IV45	Validated Y2H	32296183
Intra	PGAM1	P18669	PCNA	Homo sapiens	P12004	Far-WB	20849852

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Menkes Disease

Copper Transport Disease	Menkes Syndrome
MNK	Kinky Hair Disease
Steely Hair Disease	Menkes Kinky-Hair Syndrome
Mk	Steely Hair Syndrome
Menkea Syndrome	Md
Menkes Kinky Hair Syndrome	Hypocupremia, Congenital
Kinky Hair Syndrome	X-Linked Copper Deficiency
Menkes Kinky Hair Disease

Myoglobinuria

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (5)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-101143	PGMI-004A	Inhibitor	99.34%	Unkown
HY-148510	HKB99	Inhibitor	97.35%	Unkown
HY-128681	PGAM1-IN-1	Inhibitor	99.89%	Unkown
HY-128682	PGAM1-IN-2	Inhibitor	98.02%	Unkown
HY-RS10374	PGAM1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	PGAM1	RGD	RGD:3312
Bos taurus	PGAM1	VGNC	VGNC:55961
Mus musculus	PGAM1	MGD	MGI:97552
Canis familiaris	PGAM1	VGNC	VGNC:56113
Others	PGAM1	NCBI

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