• Gene id: 11253

Gene Summary

• Gene Symbol: MAN1B1   Gene   UCSC   Ensembl
• Aliases: ERMAN1, ERManI, MANA-ER, MRT15
• Gene name: mannosidase alpha class 1B member 1
• Alternate names: endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase, ER alpha 1,2-mannosidase, Man9GlcNAc2-specific processing alpha-mannosidase, endoplasmic Reticulum Class I alpha-mannosidase, endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-ma,
• Gene location: 9q34.3 (137086926: 137109186)     Exons: 14     NC_000009.12
• Gene summary(Entrez): 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 tri
• OMIM: 604346

Protein Summary

• Protein general information: Q9UKM7  
  • Name: Endoplasmic reticulum mannosyl oligosaccharide 1,2 alpha mannosidase (EC 3.2.1.113) (ER alpha 1,2 mannosidase) (ER mannosidase 1) (ERMan1) (Man9GlcNAc2 specific processing alpha mannosidase) (Mannosidase alpha class 1B member 1)
  • Length: 699  
  • Mass: 79,580
• Sequence:

  MAACEGRRSGALGSSQSDFLTPPVGGAPWAVATTVVMYPPPPPPPHRDFISVTLSFGENYDNSKSWRRRSCWRKW
  KQLSRLQRNMILFLLAFLLFCGLLFYINLADHWKALAFRLEEEQKMRPEIAGLKPANPPVLPAPQKADTDPENLP
  EISSQKTQRHIQRGPPHLQIRPPSQDLKDGTQEEATKRQEAPVDPRPEGDPQRTVISWRGAVIEPEQGTELPSRR
  AEVPTKPPLPPARTQGTPVHLNYRQKGVIDVFLHAWKGYRKFAWGHDELKPVSRSFSEWFGLGLTLIDALDTMWI
  LGLRKEFEEARKWVSKKLHFEKDVDVNLFESTIRILGGLLSAYHLSGDSLFLRKAEDFGNRLMPAFRTPSKIPYS
  DVNIGTGVAHPPRWTSDSTVAEVTSIQLEFRELSRLTGDKKFQEAVEKVTQHIHGLSGKKDGLVPMFINTHSGLF
  THLGVFTLGARADSYYEYLLKQWIQGGKQETQLLEDYVEAIEGVRTHLLRHSEPSKLTFVGELAHGRFSAKMDHL
  VCFLPGTLALGVYHGLPASHMELAQELMETCYQMNRQMETGLSPEIVHFNLYPQPGRRDVEVKPADRHNLLRPET
  VESLFYLYRVTGDRKYQDWGWEILQSFSRFTRVPSGGYSSINNVQDPQKPEPRDKMESFFLGETLKYLFLLFSDD
  PNLLSLDAYVFNTEAHPLPIWTPA

• Structural information:
  • Interpro: IPR012341  IPR001382  IPR036026  
  • PDB: 1FMI 1FO2 1FO3 1X9D 5KIJ 5KK7
  • PDBsum: 1FMI 1FO2 1FO3 1X9D 5KIJ 5KK7
  • STRING: ENSP00000360645
• Other Databases: GeneCards:  MAN1B1  Malacards:  MAN1B1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004559	alpha-mannosidase activity	TAS	molecular function
GO:0004559	alpha-mannosidase activity	TAS	molecular function
GO:0004559	alpha-mannosidase activity	TAS	molecular function
GO:0004559	alpha-mannosidase activity	TAS	molecular function
GO:0004571	mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	TAS	molecular function
GO:0004571	mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	IDA	molecular function
GO:0004571	mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	IMP	molecular function
GO:0004571	mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	IDA	molecular function
GO:0005509	calcium ion binding	TAS	molecular function
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005783	endoplasmic reticulum	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005794	Golgi apparatus	TAS	cellular component
GO:0006491	N-glycan processing	IBA	biological process
GO:0009311	oligosaccharide metabolic process	TAS	biological process
GO:0016020	membrane	IDA	cellular component
GO:0016020	membrane	IDA	cellular component
GO:0016021	integral component of membrane	TAS	cellular component
GO:0030433	ER-associated ubiquitin-dependent protein catabolic process	IMP	biological process
GO:0036508	protein alpha-1,2-demannosylation	NAS	biological process
GO:0036508	protein alpha-1,2-demannosylation	IDA	biological process
GO:0036509	trimming of terminal mannose on B branch	IDA	biological process
GO:0036509	trimming of terminal mannose on B branch	IMP	biological process
GO:0044322	endoplasmic reticulum quality control compartment	IDA	cellular component
GO:0044322	endoplasmic reticulum quality control compartment	TAS	cellular component
GO:0044322	endoplasmic reticulum quality control compartment	TAS	cellular component
GO:0044322	endoplasmic reticulum quality control compartment	TAS	cellular component
GO:0044322	endoplasmic reticulum quality control compartment	TAS	cellular component
GO:0044322	endoplasmic reticulum quality control compartment	TAS	cellular component
GO:1903561	extracellular vesicle	IDA	cellular component
GO:1904380	endoplasmic reticulum mannose trimming	IMP	biological process
GO:1904380	endoplasmic reticulum mannose trimming	TAS	biological process
GO:1904382	mannose trimming involved in glycoprotein ERAD pathway	IMP	biological process
GO:1904382	mannose trimming involved in glycoprotein ERAD pathway	IMP	biological process
GO:1904382	mannose trimming involved in glycoprotein ERAD pathway	TAS	biological process
GO:0004559	alpha-mannosidase activity	TAS	molecular function
GO:0004559	alpha-mannosidase activity	TAS	molecular function
GO:0004559	alpha-mannosidase activity	TAS	molecular function
GO:0004559	alpha-mannosidase activity	TAS	molecular function
GO:0004571	mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	IEA	molecular function
GO:0004571	mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	IEA	molecular function
GO:0004571	mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	IEA	molecular function
GO:0004571	mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	TAS	molecular function
GO:0004571	mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	TAS	molecular function
GO:0004571	mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	IDA	molecular function
GO:0004571	mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	IMP	molecular function
GO:0004571	mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	IDA	molecular function
GO:0005509	calcium ion binding	IEA	molecular function
GO:0005509	calcium ion binding	TAS	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005783	endoplasmic reticulum	TAS	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005783	endoplasmic reticulum	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005794	Golgi apparatus	TAS	cellular component
GO:0006486	protein glycosylation	IEA	biological process
GO:0006491	N-glycan processing	IBA	biological process
GO:0008152	metabolic process	IEA	biological process
GO:0009311	oligosaccharide metabolic process	TAS	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	IDA	cellular component
GO:0016020	membrane	IDA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016021	integral component of membrane	TAS	cellular component
GO:0016787	hydrolase activity	IEA	molecular function
GO:0016798	hydrolase activity, acting on glycosyl bonds	IEA	molecular function
GO:0030433	ER-associated ubiquitin-dependent protein catabolic process	IEA	biological process
GO:0030433	ER-associated ubiquitin-dependent protein catabolic process	IMP	biological process
GO:0036508	protein alpha-1,2-demannosylation	NAS	biological process
GO:0036508	protein alpha-1,2-demannosylation	IDA	biological process
GO:0036509	trimming of terminal mannose on B branch	IDA	biological process
GO:0036509	trimming of terminal mannose on B branch	IMP	biological process
GO:0044322	endoplasmic reticulum quality control compartment	IDA	cellular component
GO:0044322	endoplasmic reticulum quality control compartment	TAS	cellular component
GO:0044322	endoplasmic reticulum quality control compartment	TAS	cellular component
GO:0044322	endoplasmic reticulum quality control compartment	TAS	cellular component
GO:0044322	endoplasmic reticulum quality control compartment	TAS	cellular component
GO:0044322	endoplasmic reticulum quality control compartment	TAS	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:1903561	extracellular vesicle	IDA	cellular component
GO:1904380	endoplasmic reticulum mannose trimming	IMP	biological process
GO:1904380	endoplasmic reticulum mannose trimming	TAS	biological process
GO:1904382	mannose trimming involved in glycoprotein ERAD pathway	IMP	biological process
GO:1904382	mannose trimming involved in glycoprotein ERAD pathway	IMP	biological process
GO:1904382	mannose trimming involved in glycoprotein ERAD pathway	TAS	biological process
GO:0004559	alpha-mannosidase activity	TAS	molecular function
GO:0004559	alpha-mannosidase activity	TAS	molecular function
GO:0004559	alpha-mannosidase activity	TAS	molecular function
GO:0004559	alpha-mannosidase activity	TAS	molecular function
GO:0004571	mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	TAS	molecular function
GO:0004571	mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	TAS	molecular function
GO:0004571	mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	IDA	molecular function
GO:0004571	mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	IMP	molecular function
GO:0004571	mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	IDA	molecular function
GO:0005509	calcium ion binding	TAS	molecular function
GO:0005783	endoplasmic reticulum	TAS	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005783	endoplasmic reticulum	TAS	cellular component
GO:0005794	Golgi apparatus	TAS	cellular component
GO:0006491	N-glycan processing	IBA	biological process
GO:0009311	oligosaccharide metabolic process	TAS	biological process
GO:0016020	membrane	IDA	cellular component
GO:0016020	membrane	IDA	cellular component
GO:0016021	integral component of membrane	TAS	cellular component
GO:0030433	ER-associated ubiquitin-dependent protein catabolic process	IMP	biological process
GO:0036508	protein alpha-1,2-demannosylation	NAS	biological process
GO:0036508	protein alpha-1,2-demannosylation	IDA	biological process
GO:0036509	trimming of terminal mannose on B branch	IDA	biological process
GO:0036509	trimming of terminal mannose on B branch	IMP	biological process
GO:0044322	endoplasmic reticulum quality control compartment	IDA	cellular component
GO:0044322	endoplasmic reticulum quality control compartment	TAS	cellular component
GO:0044322	endoplasmic reticulum quality control compartment	TAS	cellular component
GO:0044322	endoplasmic reticulum quality control compartment	TAS	cellular component
GO:0044322	endoplasmic reticulum quality control compartment	TAS	cellular component
GO:0044322	endoplasmic reticulum quality control compartment	TAS	cellular component
GO:1903561	extracellular vesicle	IDA	cellular component
GO:1904380	endoplasmic reticulum mannose trimming	IMP	biological process
GO:1904380	endoplasmic reticulum mannose trimming	TAS	biological process
GO:1904382	mannose trimming involved in glycoprotein ERAD pathway	IMP	biological process
GO:1904382	mannose trimming involved in glycoprotein ERAD pathway	IMP	biological process
GO:1904382	mannose trimming involved in glycoprotein ERAD pathway	TAS	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways

Diseases

Associated diseases	References
Mental retardation	OMIM: 604346
Male factor infertility	MIK: 1530367
Azoospermia	MIK: 1530367
Alpha 1-antitrypsin deficiency	GAD: 19444872
Nonsyndromic autosomal recessive mental retardation	KEGG: H00768
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Azoopsermia	MIK: 1530367
Azoospermia	MIK: 1530367
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
1530367	Azoopsermia			69 (8 normozoospermic controls, 7 secretory, and 54 excretory azoospermic subjects)	Male infertility
1530367	Azoospermia			69 subjects (8 normozoospermic controls, 7 secretory, and 54 excretory azoospermic subjects)	Male infertility	alpha-glucosidase alpha-mannosidase N-acetyl-beta-D-glucosaminidase
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq