1. Gene
  2. PGM5 - phosphoglucomutase 5 Gene

PGM5 - phosphoglucomutase 5 Gene

Homo sapiens

Also known as PGMRP

Gene ID: 5239 | Gene type: protein coding

About PGM5

Cytogenetic location: 9q21.11 Genomic coordinates (GRCh38): 9:68,356,611-68,531,061 (from NCBI)

This gene has 7 transcripts (splice variants), 208 orthologues and 6 paralogues. Broad expression in prostate (RPKM 50.4), esophagus (RPKM 35.1) and 15 other tissues.

Summary

Phosphoglucomutases (EC 5.2.2.2.), such as PGM5, are phosphotransferases involved in interconversion of glucose-1-phosphate and glucose-6-phosphate. PGM activity is essential in formation of carbohydrates from glucose-6-phosphate and in formation of glucose-6-phosphate from galactose and glycogen (Edwards et al., 1995 [PubMed 8586438]).[supplied by OMIM, Mar 2008]

PGM5 Products(1)

mRNA Protein Name
NM_021965.4 NP_068800.2 phosphoglucomutase-like protein 5

PGM5 Protein Structure

PGM_PMM_I

PGM_PMM_I: Phosphoglucomutase/phosphomannomutase, alpha/beta/alpha domain I (23 - 162)

PGM_PMM_II

PGM_PMM_II: Phosphoglucomutase/phosphomannomutase, alpha/beta/alpha domain II (218 - 305)

PGM_PMM_III

PGM_PMM_III: Phosphoglucomutase/phosphomannomutase, alpha/beta/alpha domain III (312 - 425)

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  • 567 a.a.
Protein Preferred Names Protein Names

phosphoglucomutase-like protein 5

PGM-RP

Related Diseases

Diseases Alias
Noonan Syndrome 10

NS10

Noonan Syndrome, Type 10

Breast Angiosarcoma

Angiosarcoma Of The Breast

Hemangiosarcoma Of The Breast

Primary Angiosarcoma Of Breast

Myopathy, Myofibrillar, 5

Myofibrillar Myopathy 5

MFM5

Myopathy, Myofibrillar, Filamin C-Related

Filaminopathy, Autosomal Dominant

Filaminopathy

Muscle Filaminopathy

Autosomal Dominant Filaminopathy

Mfm Filamin C-Related

Myopathy Myofibrillar Filamin C-Related

Myopathy, Myofibrillar, Type 5

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

Orthologs Information

Species Symbol Source ID
Felis catus PGM5 VGNC VGNC:68820
Rattus norvegicus PGM5 RGD RGD:1307969
Mus musculus PGM5 MGD MGI:1925668
Canis familiaris PGM5 VGNC VGNC:49942
Macaca mulatta PGM5 VGNC VGNC:75971
Bos taurus PGM5 VGNC VGNC:32797