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Aliases for MAN1C1 Gene

Aliases for MAN1C1 Gene

  • Mannosidase, Alpha, Class 1C, Member 1 2 3
  • Processing Alpha-1,2-Mannosidase IC 3 4
  • EC 3.2.1.113 4 63
  • MAN1A3 3 4
  • MAN1C 3 4
  • HMIC 3 4
  • Mannosyl-Oligosaccharide 1,2-Alpha-Mannosidase IC 3
  • Mannosidase Alpha Class 1C Member 1 4
  • 1,2-Alpha-Mannosidase IC 3
  • Alpha-1,2-Mannosidase IC 4
  • Pp6318 3

External Ids for MAN1C1 Gene

Previous GeneCards Identifiers for MAN1C1 Gene

  • GC01P025424
  • GC01P024964
  • GC01P025177
  • GC01P025548
  • GC01P025816
  • GC01P025943
  • GC01P024197

Summaries for MAN1C1 Gene

GeneCards Summary for MAN1C1 Gene

MAN1C1 (Mannosidase, Alpha, Class 1C, Member 1) is a Protein Coding gene. Diseases associated with MAN1C1 include mannosidosis. Among its related pathways are Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein and Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein. GO annotations related to this gene include calcium ion binding and mannosyl-oligosaccharide 1,2-alpha-mannosidase activity. An important paralog of this gene is MAN1B1.

UniProtKB/Swiss-Prot for MAN1C1 Gene

  • Involved in the maturation of Asn-linked oligosaccharides. Trim alpha-1,2-linked mannose residues from Man(9)GlcNAc(2) to produce first Man(8)GlcNAc(2) then Man(6)GlcNAc and a small amount of Man(5)GlcNAc

Tocris Summary for MAN1C1 Gene

  • Mannosidases are divided into two subtypes; I and II, (EC numbers 3.2.1.113 and 3.2.1.114 respectively) which display a wide expression pattern. Mannosidase I hydrolyzes (1,2)-linked alpha-D-mannose residues in the oligo-mannose oligosaccharide Man9(GlcNAc)2 and mannosidase II hydrolyzes (1,3)- and (1,6)-linked alpha-D-mannose residues in Man5(GlcNAc)3. Both subtypes require a divalent cation cofactor. Mutations in mannosidases can cause mannosidosis (mannosidase I deficiency).

No data available for Entrez Gene Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MAN1C1 Gene

Genomics for MAN1C1 Gene

Regulatory Elements for MAN1C1 Gene

Genomic Location for MAN1C1 Gene

Start:
25,617,468 bp from pter
End:
25,786,207 bp from pter
Size:
168,740 bases
Orientation:
Plus strand

Genomic View for MAN1C1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for MAN1C1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MAN1C1 Gene

Proteins for MAN1C1 Gene

  • Protein details for MAN1C1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NR34-MA1C1_HUMAN
    Recommended name:
    Mannosyl-oligosaccharide 1,2-alpha-mannosidase IC
    Protein Accession:
    Q9NR34
    Secondary Accessions:
    • A6NNE2
    • B2RNP2
    • Q9Y545

    Protein attributes for MAN1C1 Gene

    Size:
    630 amino acids
    Molecular mass:
    70911 Da
    Cofactor:
    Name=Ca(2+); Xref=ChEBI:CHEBI:29108;
    Quaternary structure:
    No Data Available

neXtProt entry for MAN1C1 Gene

Proteomics data for MAN1C1 Gene at MOPED

Selected DME Specific Peptides for MAN1C1 Gene

Post-translational modifications for MAN1C1 Gene

  • Glycosylation at Ser128, Ser132, Asn250, and Asn618
  • Modification sites at PhosphoSitePlus

Other Protein References for MAN1C1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for MAN1C1 Gene

Protein Domains for MAN1C1 Gene

Suggested Antigen Peptide Sequences for MAN1C1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9NR34

UniProtKB/Swiss-Prot:

MA1C1_HUMAN :
  • Q9NR34
Family:
  • Belongs to the glycosyl hydrolase 47 family.
genes like me logo Genes that share domains with MAN1C1: view

No data available for Gene Families for MAN1C1 Gene

Function for MAN1C1 Gene

Molecular function for MAN1C1 Gene

UniProtKB/Swiss-Prot CatalyticActivity: Hydrolysis of the terminal (1->2)-linked alpha-D-mannose residues in the oligo-mannose oligosaccharide Man(9)(GlcNAc)(2)
UniProtKB/Swiss-Prot EnzymeRegulation: Inhibited by both 1-deoxymannojirimycin and kifunensine
UniProtKB/Swiss-Prot Function: Involved in the maturation of Asn-linked oligosaccharides. Trim alpha-1,2-linked mannose residues from Man(9)GlcNAc(2) to produce first Man(8)GlcNAc(2) then Man(6)GlcNAc and a small amount of Man(5)GlcNAc

Enzyme Numbers (IUBMB) for MAN1C1 Gene

Gene Ontology (GO) - Molecular Function for MAN1C1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004571 mannosyl-oligosaccharide 1,2-alpha-mannosidase activity TAS 10915796
GO:0005509 calcium ion binding TAS 10915796
genes like me logo Genes that share ontologies with MAN1C1: view

Phenotypes for MAN1C1 Gene

GenomeRNAi human phenotypes for MAN1C1:
genes like me logo Genes that share phenotypes with MAN1C1: view

miRNA for MAN1C1 Gene

miRTarBase miRNAs that target MAN1C1

No data available for Animal Models , Transcription Factor Targeting and HOMER Transcription for MAN1C1 Gene

Localization for MAN1C1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MAN1C1 Gene

Golgi apparatus membrane; Single-pass type II membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MAN1C1 Gene COMPARTMENTS Subcellular localization image for MAN1C1 gene
Compartment Confidence
golgi apparatus 5
cytosol 1
extracellular 1
lysosome 1
mitochondrion 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for MAN1C1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0016020 membrane --
GO:0030173 integral component of Golgi membrane TAS 10915796
GO:0070062 extracellular exosome IDA 23533145
genes like me logo Genes that share ontologies with MAN1C1: view

Pathways for MAN1C1 Gene

genes like me logo Genes that share pathways with MAN1C1: view

UniProtKB/Swiss-Prot Q9NR34-MA1C1_HUMAN

  • Pathway: Protein modification; protein glycosylation

Interacting Proteins for MAN1C1 Gene

Gene Ontology (GO) - Biological Process for MAN1C1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006487 protein N-linked glycosylation TAS 10915796
GO:0008152 metabolic process --
GO:0018279 protein N-linked glycosylation via asparagine TAS --
GO:0043687 post-translational protein modification TAS --
GO:0044267 cellular protein metabolic process TAS --
genes like me logo Genes that share ontologies with MAN1C1: view

Compounds for MAN1C1 Gene

(5) Tocris Compounds for MAN1C1 Gene

Compound Action Cas Number
1-Deoxynojirimycin Glucosidase I and II inhibitor [19130-96-2]
Castanospermine Glucosidases alpha and beta inhibitor [79831-76-8]
Kifunensine Inhibitor of class I alpha-mannosidases [109944-15-2]
Miglustat hydrochloride alpha-glucosidase I and II inhibitor. Also inhibits ceramide-specific glycosyltransferases [210110-90-0]
Voglibose Orally active alpha-glucosidase inhibitor [83480-29-9]

(3) HMDB Compounds for MAN1C1 Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2
D-Mannose
  • DL-mannose
3458-28-4
Water
  • Dihydrogen oxide
7732-18-5
genes like me logo Genes that share compounds with MAN1C1: view

Transcripts for MAN1C1 Gene

Unigene Clusters for MAN1C1 Gene

Mannosidase, alpha, class 1C, member 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for MAN1C1 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15a · 15b
SP1: - - - - -
SP2: - - - - - -
SP3:
SP4: -
SP5: -
SP6:

Relevant External Links for MAN1C1 Gene

GeneLoc Exon Structure for
MAN1C1
ECgene alternative splicing isoforms for
MAN1C1

Expression for MAN1C1 Gene

mRNA expression in normal human tissues for MAN1C1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for MAN1C1 Gene

SOURCE GeneReport for Unigene cluster for MAN1C1 Gene Hs.197043

mRNA Expression by UniProt/SwissProt for MAN1C1 Gene

Q9NR34-MA1C1_HUMAN
Tissue specificity: Expressed in most tissues with the exception of lung, muscle and pancreas. Highly expressed in placenta
genes like me logo Genes that share expressions with MAN1C1: view

No data available for mRNA differential expression in normal tissues for MAN1C1 Gene

Orthologs for MAN1C1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for MAN1C1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MAN1C1 35
  • 99.47 (n)
  • 99.64 (a)
MAN1C1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MAN1C1 35
  • 89.7 (n)
  • 90.13 (a)
MAN1C1 36
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MAN1C1 35
  • 90.92 (n)
  • 90.91 (a)
MAN1C1 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Man1c1 35
  • 85.36 (n)
  • 89.79 (a)
Man1c1 16
Man1c1 36
  • 89 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MAN1C1 36
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MAN1C1 36
  • 57 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Man1c1 35
  • 85.65 (n)
  • 89.44 (a)
chicken
(Gallus gallus)
Aves MAN1C1 35
  • 73.94 (n)
  • 79.06 (a)
MAN1C1 36
  • 69 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MAN1C1 36
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia man1c1 35
  • 60.87 (n)
  • 63.93 (a)
fruit fly
(Drosophila melanogaster)
Insecta alpha-Man-I 36
  • 38 (a)
ManyToMany
CG31202 36
  • 39 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea mans-1 36
  • 44 (a)
ManyToMany
mans-2 36
  • 38 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MNS1 36
  • 30 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 32 (a)
OneToMany
Species with no ortholog for MAN1C1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • zebrafish (Danio rerio)

Evolution for MAN1C1 Gene

ENSEMBL:
Gene Tree for MAN1C1 (if available)
TreeFam:
Gene Tree for MAN1C1 (if available)

Paralogs for MAN1C1 Gene

Paralogs for MAN1C1 Gene

Selected SIMAP similar genes for MAN1C1 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with MAN1C1: view

Variants for MAN1C1 Gene

Sequence variations from dbSNP and Humsavar for MAN1C1 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs719686 -- 25,764,638(+) GTCTC(A/G)AACTC intron-variant
rs719687 -- 25,764,824(+) GCAGG(C/T)GGATC intron-variant
rs734328 -- 25,747,238(-) TCCAC(A/G)CCCAC intron-variant
rs742357 -- 25,704,470(-) CCCAG(A/G)TGTCG intron-variant
rs760599 -- 25,779,741(-) TCTAA(C/T)CTTTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MAN1C1 Gene

Variant ID Type Subtype PubMed ID
nsv834491 CNV Loss 17160897
nsv871186 CNV Gain 21882294
nsv819900 CNV Gain 19587683
esv2745619 CNV Deletion 23290073
esv2116011 CNV Deletion 18987734
esv2671844 CNV Deletion 23128226
esv2745630 CNV Deletion 23290073
nsv460884 CNV Loss 19166990

Relevant External Links for MAN1C1 Gene

HapMap Linkage Disequilibrium report
MAN1C1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MAN1C1 Gene

Disorders for MAN1C1 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (1) Diseases for MAN1C1 Gene including...

Search for MAN1C1 Gene in MalaCards »

(1) University of Copenhagen DISEASES for MAN1C1 Gene

Relevant External Links for MAN1C1

Genetic Association Database (GAD)
MAN1C1
Human Genome Epidemiology (HuGE) Navigator
MAN1C1
genes like me logo Genes that share disorders with MAN1C1: view

No data available for UniProtKB/Swiss-Prot for MAN1C1 Gene

Publications for MAN1C1 Gene

  1. Characterization of a cDNA encoding a novel human Golgi alpha 1,2- mannosidase involved in N-glycan biosynthesis. (PMID: 10915796) Tremblay L.O. … Herscovics A. (J. Biol. Chem. 2000) 2 3 4
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 48
  3. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory S.G. … Bentley D.R. (Nature 2006) 3 4
  4. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PMID: 16964243) Beausoleil S.A. … Gygi S.P. (Nat. Biotechnol. 2006) 3
  5. Stimulation of ERAD of misfolded null Hong Kong alpha1-antitrypsin by Golgi alpha1,2-mannosidases. (PMID: 17727818) Hosokawa N. … Herscovics A. (Biochem. Biophys. Res. Commun. 2007) 3

Products for MAN1C1 Gene

Sources for MAN1C1 Gene

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