MAN1B1 - mannosidase alpha class 1B member 1 Gene

Also Known as MRT15; ERMAN1; ERManI; MANA-ER

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 11253

About MAN1B1

Cytogenetic location: 9q34.3 Genomic coordinates (GRCh38): 9:137,086,985-137,109,183 (from NCBI)

This gene has 40 transcripts (splice variants), 272 orthologues, 6 paralogues and is associated with 4 phenotypes. Ubiquitous expression in testis (RPKM 13.4), thyroid (RPKM 13.1) and 25 other tissues.

Summary

This gene encodes an enzyme belonging to the glycosyl hydrolase 47 family. This enzyme functions in N-glycan biosynthesis, and is a class I alpha-1,2-mannosidase that specifically converts Man9GlcNAc to Man8GlcNAc isomer B. It is required for N-glycan trimming to Man5-6GlcNAc2 in the endoplasmic-reticulum-associated degradation pathway. Mutations in this gene cause autosomal-recessive intellectual disability. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 11. [provided by RefSeq, Dec 2011]

MAN1B1 Products (1)

mRNA	Protein	Name
NM_016219.5	NP_057303.2	endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Verweise	Source
enables mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	IDA IDA: Inferred from direct assay	10521544	GOA
enables mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	IMP IMP: Inferred from mutant phenotype	18003979	GOA

Biological Process GO Annotation	Evidence	Verweise	Source
involved in ERAD pathway	IMP IMP: Inferred from mutant phenotype	18003979	GOA
involved in mannoprotein catabolic process	IDA IDA: Inferred from direct assay	10521544	GOA
involved in mannoprotein catabolic process	IMP IMP: Inferred from mutant phenotype	18003979	GOA

Cellular Component GO Annotation	Evidence	Verweise	Source
located in cytoplasmic vesicle	IDA IDA: Inferred from direct assay	25411339	GOA
located in endoplasmic reticulum	IDA IDA: Inferred from direct assay	18003979	GOA
located in endoplasmic reticulum quality control compartment	IDA IDA: Inferred from direct assay	18003979	GOA
located in membrane	IDA IDA: Inferred from direct assay	18003979	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

MAN1B1 Protein Structure

Glyco_hydro_47

0
200
400
600
699 a.a.

Protein Preferred Names	Protein Names
endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase	ER alpha 1,2-mannosidase

Recombinant MAN1B1 Proteins

Art. -Nr.	Produktname	Accession	Reinheit
HY-P70957	MAN1B1 Protein, Human (HEK293, His)	Q9UKM7 (D106-A699)	≥ 95%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases	Alias
Rafiq Syndrome	RAFQS Cdg2u Mental Retardation, Autosomal Recessive 15, Formerly Mrt15, Formerly Mrt15
Man1b1-Cdg	Carbohydrate Deficient Glycoprotein Syndrome Type Ii Due To Man1b1 Deficiency Congenital Disorder Of Glycosylation Type 2 Due To Man1b1 Deficiency Congenital Disorder Of Glycosylation Type Ii Due To Man1b1 Deficiency Intellectual Disability-Truncal Obesity Syndrome
Autosomal Recessive Non-Syndromic Intellectual Disability	Ar-Nsid Ns-Arid
Congenital Disorder Of Glycosylation, Type Iib	CDG2B CDGIIB Glucosidase I Deficiency Congenital Disorder Of Glycosylation Type Iib Cdg Iib Mogs-Cdg Cdg Syndrome Type Iib Cdg-Iib Carbohydrate Deficient Glycoprotein Syndrome Type Iib Congenital Disorder Of Glycosylation Type 2b Glucosidase 1 Deficiency Type Iib Congenital Disorder Of Glycosylation Glycosylation, Congenital Disorder Of, Type Iib
Immunodeficiency 47	Congenital Disorder Of Glycosylation Type Ii CDG2E Congenital Disorder Of Glycosylation Type Iie IMD47 Cdg2s Cdg Iis Cdgiis Immunodeficiency And Hepatopathy With Or Without Neurologic Features Congenital Disorder Of Glycosylation, Type Ii CDG1I Congenital Disorder Of Glycosylation, Type Iie Cdg Iie Congenital Disorder Of Glycosylation Type 2e Congenital Disorder Of Glycosylation, Type Iis Cdg Ii Cdgii Cdgiie Carbohydrate Deficient Glycoprotein Syndrome Type Iie Cdg Syndrome Type Iie Congenital Disorder Of Glycosylation Ii Congenital Disorder Of Glycosylation 1i Cdg-Iie Alg2-Cdg Cdg-Ii Glycosylation, Congenital Disorder Of, Type Ii Cdgiide Congenital Disorder Of Glycosylation Type Iis Cog7-Cdg Cdg Syndrome Type Ii Carbohydrate Deficient Glycoprotein Syndrome Type Ii Congenital Disorder Of Glycosylation Type 1i Mannosyltransferase 2 Deficiency Congenital Disorder Of Glycosylation 2e Congenital Disorder Of Glycosylation 2s Congenital Disorders Of Glycosylation Type Ii Glycosylation, Congenital Disorder Of, Type Iie Immunodeficiency, Type 47 Congenital Disorder Of Glycosylation Type 2a
Camptodactyly-Tall Stature-Scoliosis-Hearing Loss Syndrome	Catshl Syndrome Camptodactyly-Tall Stature-Scoliosis-Deafness Syndrome
Alpha-1-Antitrypsin Deficiency	Alpha 1-Antitrypsin Deficiency Alpha-1 Antitrypsin Deficiency Aat Deficiency Aatd A1ATD Emphysema Due To Aat Deficiency A1at Deficiency Emphysema-Cirrhosis, Due To Aat Deficiency Hemorrhagic Diathesis Due To Antithrombin Pittsburgh Alpha-1 Antiprotease Deficiency Alpha 1 Antitrypsin Deficiency Aat Alpha-1 Protease Inhibitor Deficiency Alpha-1 Related Emphysema Genetic Emphysema Hereditary Pulmonary Emphysema Inherited Emphysema Alpha-1-Proteinase Inhibitor Deficiency Alpha1-Antitrypsin Deficiency Alpha-1-Antitrypsin Deficiency, Autosomal Recessive Emphysema, Hereditary Pulmonary Aatd - [Alpha-1-Antitrypsin] Deficiency
Congenital Disorder Of Glycosylation, Type Iif	CDG2F Congenital Disorder Of Glycosylation Type Iif Cdg Iif Cdgiif Carbohydrate Deficient Glycoprotein Syndrome Type Iif Cmp-Sialic Acid Transporter Deficiency Slc35a1-Cdg Cdg-Iif Cdgiidf Cdg Syndrome Type Iif Congenital Disorder Of Glycosylation Type 2f Congenital Disorder Of Glycosylation 2f Glycosylation, Congenital Disorder Of, Type Iif
Fructose Intolerance, Hereditary	Hereditary Fructose Intolerance Fructose Intolerance Fructose-1-Phosphate Aldolase Deficiency Fructose-1,6-Bisphosphate Aldolase B Deficiency Aldolase B Deficiency Fructosemia Aldob Deficiency Hereditary Fructose Intolerance Syndrome HFI Fructosaemia Hereditary Fructose-1-Phosphate Aldolase Deficiency Fructose Aldolase B Deficiency Fructose-1,6-Biphosphate Aldolase Deficiency Hereditary Fructosemia Fructosemia, Hereditary Hereditary Fructosaemia Fructose-Biphosphate Aldolase B Deficiency Fructose Intolerance Of Newborn Aldb - [Aldolase B] Deficiency Deficiency Of Fructose-Bisphosphate Aldolase
Bartter Syndrome, Type 1, Antenatal	Hyperprostaglandin E Syndrome 1 Bartter Disease Type 1 BARTS1 Bartter Syndrome, Type 1 Bartter Syndrome Type 1 Hypokalemic Alkalosis With Hypercalciuria Antenatal 1 Hypokalemic Alkalosis With Hypercalciuria 1, Antenatal Bartter Syndrome Type 1 Antenatal Hypokalemic Alkalosis With Hypercalciuria 1 Antenatal Bartter Syndrome Antenatal Type 1 Antenatal Bartter Syndrome Type 1 Bartter Syndrome Type I Bartter Syndrome 1, Antenatal Abs1 Antenatal Bartter Syndrome 1 Bs1 Bartter Syndrome, Antenatal Type 1 Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
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)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS08006	MAN1B1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS19789	Man1b1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26285	Man1b1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	MAN1B1	VGNC	VGNC:74484
Bos taurus	MAN1B1	VGNC	VGNC:81193
Mus musculus	MAN1B1	MGD	MGI:2684954
Rattus norvegicus	MAN1B1	RGD	RGD:1563595
Others	MAN1B1	NCBI