• Gene id: 57134

Gene Summary

• Gene Symbol: MAN1C1   Gene   UCSC   Ensembl
• Aliases: HMIC, MAN1A3, MAN1C, pp6318
• Gene name: mannosidase alpha class 1C member 1
• Alternate names: mannosyl-oligosaccharide 1,2-alpha-mannosidase IC, 1,2-alpha-mannosidase IC, processing alpha-1,2-mannosidase IC,
• Gene location: 1p36.11 (25616819: 25786206)     Exons: 13     NC_000001.11
• OMIM: 149750

Protein Summary

• Protein general information: Q9NR34  
  • Name: Mannosyl oligosaccharide 1,2 alpha mannosidase IC (EC 3.2.1.113) (HMIC) (Mannosidase alpha class 1C member 1) (Processing alpha 1,2 mannosidase IC) (Alpha 1,2 mannosidase IC)
  • Length: 630  
  • Mass: 70911
  • Tissue specificity: Expressed in most tissues with the exception of lung, muscle and pancreas. Highly expressed in placenta.
• Sequence:

  MLMRKVPGFVPASPWGLRLPQKFLFLLFLSGLVTLCFGALFLLPHSSRLKRLFLAPRTQQPGLEVVAEIAGHAPA
  REQEPPPNPAPAAPAPGEDDPSSWASPRRRKGGLRRTRPTGPREEATAARGNSIPASRPGDEGVPFRFDFNAFRS
  RLRHPVLGTRADESQEPQSQVRAQREKIKEMMQFAWQSYKRYAMGKNELRPLTKDGYEGNMFGGLSGATVIDSLD
  TLYLMELKEEFQEAKAWVGESFHLNVSGEASLFEVNIRYIGGLLSAFYLTGEEVFRIKAIRLGEKLLPAFNTPTG
  IPKGVVSFKSGNWGWATAGSSSILAEFGSLHLEFLHLTELSGNQVFAEKVRNIRKVLRKIEKPFGLYPNFLSPVS
  GNWVQHHVSVGGLGDSFYEYLIKSWLMSGKTDMEAKNMYYEALEAIETYLLNVSPGGLTYIAEWRGGILDHKMGH
  LACFSGGMIALGAEDAKEEKRAHYRELAAQITKTCHESYARSDTKLGPEAFWFNSGREAVATQLSESYYILRPEV
  VESYMYLWRQTHNPIYREWGWEVVLALEKYCRTEAGFSGIQDVYSSTPNHDNKQQSFFLAETLKYLYLLFSEDDL
  LSLEDWVFNTEAHPLPVNHSDSSGRAWGRH

• Structural information:
  • Interpro: IPR012341  IPR001382  IPR036026  
  • STRING: ENSP00000363452
• Other Databases: GeneCards:  MAN1C1  Malacards:  MAN1C1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006491	N-glycan processing	IBA	biological process
GO:0005783	endoplasmic reticulum	IBA	cellular component
GO:0000139	Golgi membrane	IBA	cellular component
GO:0004571	mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	IBA	molecular function
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:0046872	metal ion binding	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016798	hydrolase activity, acting on glycosyl bonds	IEA	molecular function
GO:0016021	integral component of membrane	IEA	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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000139	Golgi membrane	IEA	cellular component
GO:0006486	protein glycosylation	IEA	biological process
GO:0006487	protein N-linked glycosylation	TAS	biological process
GO:0004571	mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	TAS	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0030173	integral component of Golgi membrane	TAS	cellular component
GO:0005509	calcium ion binding	TAS	molecular function

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
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq