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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	Referencias	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	Referencias	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

PMM1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Referencias
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

Referencia número	Nombre del producto	Accession	Pureza
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)

Referencia número	Nombre del producto	Efecto	Pureza	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