• Gene id: 4121

Gene Summary

• Gene Symbol: MAN1A1   Gene   UCSC   Ensembl
• Aliases: HUMM3, HUMM9, MAN9
• Gene name: mannosidase alpha class 1A member 1
• Alternate names: mannosyl-oligosaccharide 1,2-alpha-mannosidase IA, Man9-mannosidase, alpha-1,2-mannosidase IA, man(9)-alpha-mannosidase, processing alpha-1,2-mannosidase IA,
• Gene location: 6q22.31 (119350618: 119177203)     Exons: 16     NC_000006.12
• Gene summary(Entrez): 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

Protein Summary

• Protein general information: P33908  
  • Name: Mannosyl oligosaccharide 1,2 alpha mannosidase IA (EC 3.2.1.113) (Man(9) alpha mannosidase) (Man9 mannosidase) (Mannosidase alpha class 1A member 1) (Processing alpha 1,2 mannosidase IA) (Alpha 1,2 mannosidase IA)
  • Length: 653  
  • Mass: 72969
• Sequence:

  MPVGGLLPLFSSPAGGVLGGGLGGGGGRKGSGPAALRLTEKFVLLLVFSAFITLCFGAIFFLPDSSKLLSGVLFH
  SSPALQPAADHKPGPGARAEDAAEGRARRREEGAPGDPEAALEDNLARIRENHERALREAKETLQKLPEEIQRDI
  LLEKKKVAQDQLRDKAPFRGLPPVDFVPPIGVESREPADAAIREKRAKIKEMMKHAWNNYKGYAWGLNELKPISK
  GGHSSSLFGNIKGATIVDALDTLFIMEMKHEFEEAKSWVEENLDFNVNAEISVFEVNIRFVGGLLSAYYLSGEEI
  FRKKAVELGVKLLPAFHTPSGIPWALLNMKSGIGRNWPWASGGSSILAEFGTLHLEFMHLSHLSGNPIFAEKVMN
  IRTVLNKLEKPQGLYPNYLNPSSGQWGQHHVSVGGLGDSFYEYLLKAWLMSDKTDLEAKKMYFDAVQAIETHLIR
  KSSSGLTYIAEWKGGLLEHKMGHLTCFAGGMFALGADAAPEGMAQHYLELGAEIARTCHESYNRTFMKLGPEAFR
  FDGGVEAIATRQNEKYYILRPEVMETYMYMWRLTHDPKYRKWAWEAVEALENHCRVNGGYSGLRDVYLLHESYDD
  VQQSFFLAETLKYLYLIFSDDDLLPLEHWIFNSEAHLLPILPKDKKEVEIREE

• Structural information:
  • Interpro: IPR012341  IPR001382  IPR036026  
  • STRING: ENSP00000357453
• Other Databases: GeneCards:  MAN1A1  Malacards:  MAN1A1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004571	mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	IBA	molecular function
GO:0000139	Golgi membrane	IBA	cellular component
GO:0005783	endoplasmic reticulum	IBA	cellular component
GO:0006491	N-glycan processing	IBA	biological process
GO:0005509	calcium ion binding	IEA	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0004571	mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0008152	metabolic process	IEA	biological process
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0016787	hydrolase activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016798	hydrolase activity, acting on glycosyl bonds	IEA	molecular function
GO:0005509	calcium ion binding	TAS	molecular function
GO:0004571	mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	TAS	molecular function
GO:0015923	mannosidase activity	TAS	molecular function
GO:0016020	membrane	TAS	cellular component
GO:0005783	endoplasmic reticulum	TAS	cellular component
GO:0004571	mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	IEA	molecular function
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:1904381	Golgi apparatus mannose trimming	TAS	biological process
GO:0000139	Golgi membrane	IEA	cellular component
GO:0000139	Golgi membrane	IEA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0006486	protein glycosylation	IEA	biological process
GO:0005793	endoplasmic reticulum-Golgi intermediate compartment	IDA	cellular component
GO:0016020	membrane	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa04141	Protein processing in endoplasmic reticulum
hsa00510	N-Glycan biosynthesis
hsa00513	Various types of N-glycan biosynthesis

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray