MAN1B1 - mannosidase alpha class 1B member 1 Gene

Homo sapiens

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

Gene ID: 11253 | Gene type: protein coding

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

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

Cat. No.	Product Name	Accession	Purity
HY-P70957	MAN1B1 Protein, Human (HEK293, His)	Q9UKM7 (D106-A699)	≥95%

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS08006	MAN1B1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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