2. Gene
  3. PGAM1 - phosphoglycerate mutase 1 Gene

PGAM1 - phosphoglycerate mutase 1 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
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

PGAM1 Protein Structure

His_Phos_1

His_Phos_1: Histidine phosphatase superfamily (branch 1) (5 - 191)

  • 0
  • 100
  • 200
  • 254 a.a.
Protein Preferred Names Protein Names

phosphoglycerate mutase 1

BPG-dependent PGAM 1

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 / 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