MAN1A1 - mannosidase alpha class 1A member 1 Gene

Homo sapiens

Also known as MAN9; HUMM3; HUMM9

Gene ID: 4121 | Gene type: protein coding

About MAN1A1

Cytogenetic location: 6q22.31 Genomic coordinates (GRCh38): 6:119,177,205-119,350,605 (from NCBI)

This gene has 1 transcript (splice variant), 222 orthologues and 6 paralogues. Ubiquitous expression in fat (RPKM 62.7), liver (RPKM 46.9) and 25 other tissues.

Summary

This gene encodes a class I mammalian Golgi 1,2-mannosidase which is a type II transmembrane protein. This protein catalyzes the hydrolysis of three terminal mannose residues from peptide-bound Man(9)-GlcNAc(2) oligosaccharides and belongs to family 47 of glycosyl hydrolases. [provided by RefSeq, Jul 2012]

MAN1A1 Products(1)

mRNA	Protein	Name
NM_005907.4	NP_005898.2	mannosyl-oligosaccharide 1,2-alpha-mannosidase IA

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	IMP IMP: Inferred from mutant phenotype	27108681	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	33961781	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in ERAD pathway	IDA IDA: Inferred from direct assay	27108681	GOA
involved in mannose trimming involved in glycoprotein ERAD pathway	IDA IDA: Inferred from direct assay	27108681	GOA
involved in protein targeting to ER	IMP IMP: Inferred from mutant phenotype	27108681	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cytoplasmic vesicle	IDA IDA: Inferred from direct assay	27108681	GOA
located in endoplasmic reticulum-Golgi intermediate compartment	IDA IDA: Inferred from direct assay	15308636	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

MAN1A1 Protein Structure

Glyco_hydro_47

0
100
200
300
400
500
600
653 a.a.

Protein Preferred Names

Protein Names

mannosyl-oligosaccharide 1,2-alpha-mannosidase IA

Man9-mannosidase

Related Diseases

Diseases

Alias

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 (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-E70304	Mannosyl-oligosaccharide 1,2-α-mannosidase IA		/	Unkown
HY-RS08004	MAN1A1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS08006	MAN1B1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS08007	MAN1C1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	MAN1A1	MGD	MGI:104677
Bos taurus	MAN1A1	VGNC	VGNC:31161
Felis catus	MAN1A1	VGNC	VGNC:68144
Canis familiaris	MAN1A1	VGNC	VGNC:42942
Rattus norvegicus	MAN1A1	RGD	RGD:1310891
Macaca mulatta	MAN1A1	VGNC	VGNC:74483

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