PMM1 - phosphomannomutase 1 Gene

Homo sapiens

Also known as PMM 1; Sec53; PMMH-22

Gene ID: 5372 | Gene type: protein coding

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	Reference	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	Reference	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

0
100
200
262 a.a.

Protein Preferred Names

Protein Names

phosphomannomutase 1

brain glucose-1,6-bisphosphatase

Recombinant PMM1 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P71216	PMM1 Protein, Human (His)	Q92871 (M1-A262)	≥95%

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10766	PMM1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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