PMM1 - phosphomannomutase 1 Gene

Also Known as PMM 1; Sec53; PMMH-22

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 5372

About PMM1

Cytogenetic location: 22q13.2 Genomic coordinates (GRCh38): 22:41,576,900-41,589,840 (from NCBI)

This gene has 9 transcripts (splice variants), 212 orthologues and 1 paralogue. Ubiquitous expression in kidney (RPKM 25.6), ovary (RPKM 25.1) and 25 other tissues.

Summary

Phosphomannomutase catalyzes the conversion between D-mannose 6-phosphate and D-mannose 1-phosphate which is a substrate for GDP-mannose synthesis. GDP-mannose is used for synthesis of dolichol-phosphate-mannose, which is essential for N-linked glycosylation and thus the secretion of several glycoproteins as well as for the synthesis of glycosyl-phosphatidyl-inositol (GPI) anchored proteins. [provided by RefSeq, Jul 2008]

PMM1 Products (1)

mRNA Protein Name
NM_002676.3 NP_002667.2 phosphomannomutase 1

Gene Ontology

  • Molecular Function
  • Biological Process
Molecular Function GO Annotation Evidence References Source
enables phosphomannomutase activity EXP
EXP: Inferred from Experiment
16540464 GOA
enables phosphomannomutase activity IDA
IDA: Inferred from direct assay
16540464 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
16189514 GOA
Biological Process GO Annotation Evidence References Source
involved in mannose metabolic process IDA
IDA: Inferred from direct assay
16540464 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

PMM1 Protein Structure

PMM

PMM: Eukaryotic phosphomannomutase (36 - 255)

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

phosphomannomutase 1

  • brain glucose-1,6-bisphosphatase

PMM1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
PMM1 Q92871 RAB6A Homo sapiens P20340
Y2H Pooling
16189514
Intra
PMM1 Q92871 RAB6A Homo sapiens P20340
Y2H Prey Pooling
25416956
Intra
PMM1 Q92871 RAB6A Homo sapiens P20340
Validated Y2H
25416956
Intra
PMM1 Q92871 RAB6B Homo sapiens Q9NRW1
Validated Y2H
32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant PMM1 Proteins

Cat. No. Product Name Accession Purity
HY-P71216 PMM1 Protein, Human (His) Q92871 (M1-A262) ≥ 95%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases Alias
Immunodeficiency 24

  • Severe Combined Immunodeficiency Due To Ctps1 Deficiency

  • IMD24

  • Scid Due To Ctps1 Deficiency

  • Immunodeficiency, Type 24
Non-Syndromic X-Linked Intellectual Disability 14

  • Mrx14
Congenital Disorder Of Glycosylation, Type Ia

  • CDG1A

  • Cdg Ia

  • Phosphomannomutase 2 Deficiency

  • Jaeken Syndrome

  • Pmm2-Congenital Disorder Of Glycosylation

  • Congenital Disorder Of Glycosylation Type Ia

  • Cdgia

  • Congenital Disorder Of Glycosylation Ia

  • Congenital Disorder Of Glycosylation 1a

  • Carbohydrate-Deficient Glycoprotein Syndrome Type Ia

  • Cdgs1a

  • Pmm2-Cdg

  • Cdg-Ia

  • Congenital Disorder Of Glycosylation Type 1a

  • Carbohydrate-Deficient Glycoprotein Syndrome, Type Ia, Formerly

  • Pmm Deficiency

  • Cdg Syndrome Type Ia

  • Carbohydrate Deficient Glycoprotein Syndrome Type Ia

  • Cdg Syndrome Type 1a

  • Jaeken'S Syndrome

  • Pmm2 Deficiency

  • Glycosylation, Congenital Disorder Of, Type Ia
Wrinkly Skin Syndrome

  • WSS

  • Wrinkled Skin Syndrome
Congenital Disorder Of Glycosylation, Type In

  • Congenital Disorder Of Glycosylation

  • CDG1N

  • Congenital Disorders Of Glycosylation

  • Cdg In

  • Cdgin

  • Congenital Disorder Of Glycosylation 1n

  • Carbohydrate-Deficient Glycoprotein Syndrome

  • Cdg

  • Rft1-Cdg

  • Cdg-In

  • Congenital Disorder Of Glycosylation Type In

  • Carbohydrate Deficient Glycoprotein Syndrome

  • Cdg Syndrome

  • Congenital Disorder Of Glycosylation In

  • Carbohydrate-Deficient Glycoprotein Syndromes

  • Cdg Syndrome Type In

  • Carbohydrate Deficient Glycoprotein Syndrome Type In

  • Congenital Disorder Of Glycosylation Type 1n

  • Man5glcnac2-Pp-Dol Flippase Deficiency

  • Glycosylation, Congenital Disorder Of

  • Glycosylation, Congenital Disorder Of, Type In
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

Pre-clinical Phase

Bioactive Molecules (3)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS10766 PMM1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS19630 Pmm1 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS26125 Pmm1 Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Bos taurus PMM1 VGNC VGNC:33072
Felis catus PMM1 VGNC VGNC:68921
Canis familiaris PMM1 VGNC VGNC:44733
Rattus norvegicus PMM1 RGD RGD:1310897
Macaca mulatta PMM1 VGNC VGNC:76192
Mus musculus PMM1 MGD MGI:1353418
Others PMM1 NCBI