Aliases for MAN1C1 Gene

Aliases for MAN1C1 Gene

  • Mannosidase Alpha Class 1C Member 1 2 3 4 5
  • Mannosyl-Oligosaccharide 1,2-Alpha-Mannosidase IC 3 4
  • Processing Alpha-1,2-Mannosidase IC 3 4
  • EC 3.2.1.113 4 54
  • MAN1A3 3 4
  • MAN1C 3 4
  • HMIC 3 4
  • Mannosidase, Alpha, Class 1C, Member 1 2
  • 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 Breast Abscess. Among its related pathways are Vesicle-mediated transport and Transport to the Golgi and subsequent modification. Gene Ontology (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 MAN1A1.

UniProtKB/Swiss-Prot Summary 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

  • Glycosylases are a group of enzymes that includes glucosidases, mannosidases and heparanases. There are two glucosidase subtypes, both found in the gut. They hydrolyze terminal (1,4)alpha-glucosidic linkages and (1,6)beta-glucosidic linkages, liberating alpha-glucose and beta-glucose.

Additional gene information for MAN1C1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MAN1C1 Gene

Genomics for MAN1C1 Gene

GeneHancer (GH) Regulatory Elements for MAN1C1 Gene

Promoters and enhancers for MAN1C1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J025614 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 752.4 +0.7 654 6.4 CTCF ZBTB6 MYC NFYC L3MBTL2 RAD21 MAX SP1 SP7 PRDM1 MAN1C1 SRRM1 ENSG00000207302 ENSG00000231953 ENSG00000261025 ENSG00000223624 ENSG00000225891 ENSG00000261349 LIN28A HMGN2
GH01J025030 Promoter/Enhancer 1.9 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 23.3 -584.5 -584471 5.1 ZNF24 SP1 HDAC2 MYC ETV6 RELA L3MBTL2 MAX ZNF280D NKRF LINC02793 lnc-CLIC4-2 SRRM1 SYF2 MAN1C1 RUNX3 ENSG00000261025 ENSG00000231953 ENSG00000207302 ENSG00000223624
GH01J026470 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 12.4 +855.2 855187 4.6 GTF3C2 ZNF785 ZNF24 SP1 ZBTB40 CTCF ZBTB6 FOXA1 SMARCE1 POLR2A HMGN2 NONHSAG000771.2-001 lnc-ZNF683-3 piR-56447 ARID1A ACTG1P20 ENSG00000223583 GPN2 NPM1P39 MAP3K6
GH01J024641 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 10.1 -974.1 -974132 4.3 ZNF785 ZBTB40 SP1 SREBF1 MLX SMARCE1 POLR2A USF2 ATF1 CREB1 SRRM1 SRSF10 ENSG00000261349 SYF2 ELOA NCMAP RPL11 PNRC2 FUCA1 MAN1C1
GH01J025770 Promoter/Enhancer 1.8 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 13.2 +155.6 155605 6.1 MLX TCF7L2 CTBP1 NR2F6 MIXL1 L3MBTL2 RAD21 ELF3 SP1 CEBPG ENSG00000207302 ENSG00000231953 ENSG00000261025 ENSG00000223624 MAN1C1 LIN28A SELENON LDLRAP1 MTFR1L PDIK1L
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MAN1C1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MAN1C1 gene promoter:
  • AP-4
  • C/EBPbeta
  • Gfi-1
  • Oct-B1
  • oct-B2
  • oct-B3
  • POU2F1
  • POU2F1a
  • POU2F2
  • RSRFC4

Genomic Locations for MAN1C1 Gene

Genomic Locations for MAN1C1 Gene
chr1:25,617,468-25,786,207
(GRCh38/hg38)
Size:
168,740 bases
Orientation:
Plus strand
chr1:25,943,959-26,112,698
(GRCh37/hg19)
Size:
168,740 bases
Orientation:
Plus strand

Genomic View for MAN1C1 Gene

Genes around MAN1C1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MAN1C1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Selected DME Specific Peptides for MAN1C1 Gene

Q9NR34:
  • DSFYEYL
  • FNTEAHP
  • LLPAFNTP
  • QSFFLAE

Post-translational modifications for MAN1C1 Gene

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

Other Protein References for MAN1C1 Gene

Domains & Families for MAN1C1 Gene

Gene Families for MAN1C1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins
  • Predicted membrane proteins

Suggested Antigen Peptide Sequences for MAN1C1 Gene

GenScript: Design optimal peptide antigens:
  • Processing alpha-1,2-mannosidase IC (MA1C1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9NR34

UniProtKB/Swiss-Prot:

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

Function for MAN1C1 Gene

Molecular function for MAN1C1 Gene

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.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=Hydrolysis of the terminal (1->2)-linked alpha-D-mannose residues in the oligo-mannose oligosaccharide Man(9)(GlcNAc)(2).; EC=3.2.1.113; Evidence=. ;.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by both 1-deoxymannojirimycin and kifunensine.

Enzyme Numbers (IUBMB) for MAN1C1 Gene

Phenotypes From GWAS Catalog for MAN1C1 Gene

Gene Ontology (GO) - Molecular Function for MAN1C1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0004571 mannosyl-oligosaccharide 1,2-alpha-mannosidase activity TAS,IEA 10915796
GO:0005509 calcium ion binding TAS,IEA 10915796
GO:0016787 hydrolase activity IEA --
GO:0016798 hydrolase activity, acting on glycosyl bonds IEA --
genes like me logo Genes that share ontologies with MAN1C1: view
genes like me logo Genes that share phenotypes with MAN1C1: view

Animal Model Products

  • Taconic Biosciences Mouse Models for MAN1C1

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MAN1C1

Clone Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MAN1C1 gene
Compartment Confidence
golgi apparatus 5
endoplasmic reticulum 3
plasma membrane 1
extracellular 1
mitochondrion 1
cytosol 1
lysosome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleus (1)
  • Vesicles (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MAN1C1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005783 endoplasmic reticulum IBA 21873635
GO:0005794 Golgi apparatus IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with MAN1C1: view

Pathways & Interactions 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.

Gene Ontology (GO) - Biological Process for MAN1C1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006486 protein glycosylation IEA --
GO:0006487 protein N-linked glycosylation TAS 10915796
GO:0006491 N-glycan processing IBA 21873635
GO:0008152 metabolic process IEA --
GO:1904381 Golgi apparatus mannose trimming TAS --
genes like me logo Genes that share ontologies with MAN1C1: view

No data available for SIGNOR curated interactions for MAN1C1 Gene

Drugs & Compounds for MAN1C1 Gene

(8) Drugs for MAN1C1 Gene - From: ApexBio, HMDB, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
Calcium Approved Nutra 7773
Acarbose Approved, Investigational Pharma Alpha-glucosidase inhibitor, Glucosidase alpha inhibitor (intestinal) 97
Kifunensine Experimental Pharma 0
Castanospermine Experimental Pharma Glucosidases alpha and beta inhibitor 0

(1) Additional Compounds for MAN1C1 Gene - From: Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Miglustat hydrochloride
210110-90-0

(5) Tocris Compounds for MAN1C1 Gene

Compound Action Cas Number
1-Deoxymannojirimycin hydrochloride alpha-Mannosidase I inhibitor 73465-43-7
1-Deoxynojirimycin Glucosidase I and II inhibitor 19130-96-2
Acarbose Glucosidase alpha inhibitor (intestinal) 56180-94-0
Castanospermine Glucosidases alpha and beta inhibitor 79831-76-8
Miglustat hydrochloride alpha-glucosidase I and II inhibitor. Also inhibits ceramide-specific glycosyltransferases 210110-90-0

(2) ApexBio Compounds for MAN1C1 Gene

Compound Action Cas Number
1-Deoxymannojirimycin hydrochloride 73465-43-7
Kifunensine 109944-15-2
genes like me logo Genes that share compounds with MAN1C1: view

Drug Products

Transcripts for MAN1C1 Gene

mRNA/cDNA for MAN1C1 Gene

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MAN1C1

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE for MAN1C1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for MAN1C1 Gene

This gene is overexpressed in Uterus (15.2), Cardia (14.7), Placenta (11.3), Esophagus (7.2), and Colon (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MAN1C1 Gene



NURSA nuclear receptor signaling pathways regulating expression of MAN1C1 Gene:

MAN1C1

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.

Evidence on tissue expression from TISSUES for MAN1C1 Gene

  • Liver(4.2)
  • Nervous system(4.2)
  • Eye(4.1)
genes like me logo Genes that share expression patterns with MAN1C1: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33 32
  • 99.47 (n)
OneToOne
dog
(Canis familiaris)
Mammalia MAN1C1 33 32
  • 90.92 (n)
OneToOne
cow
(Bos Taurus)
Mammalia MAN1C1 33 32
  • 89.7 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Man1c1 32
  • 85.65 (n)
mouse
(Mus musculus)
Mammalia Man1c1 17 33 32
  • 85.36 (n)
oppossum
(Monodelphis domestica)
Mammalia MAN1C1 33
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MAN1C1 33
  • 57 (a)
OneToOne
chicken
(Gallus gallus)
Aves MAN1C1 33 32
  • 73.94 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MAN1C1 33
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia man1c1 32
  • 60.87 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG31202 33
  • 39 (a)
ManyToMany
alpha-Man-I 33
  • 38 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea mans-1 33
  • 44 (a)
ManyToMany
mans-2 33
  • 38 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MNS1 33
  • 30 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 32 (a)
OneToMany
Species where no ortholog for MAN1C1 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for MAN1C1: view image

Paralogs for MAN1C1 Gene

Paralogs for MAN1C1 Gene

(6) SIMAP similar genes for MAN1C1 Gene using alignment to 3 proteins:

  • MA1C1_HUMAN
  • A6NGN6_HUMAN
  • B1AJZ5_HUMAN
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 Variation AA Info Type
rs1000013016 -- 25,710,070(+) C/T intron_variant
rs1000027293 -- 25,769,586(+) T/C genic_downstream_transcript_variant, intron_variant
rs1000046062 -- 25,622,149(+) T/C intron_variant
rs1000057079 -- 25,624,998(+) A/T intron_variant
rs1000059828 -- 25,769,445(+) C/A/T genic_downstream_transcript_variant, intron_variant

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

Variant ID Type Subtype PubMed ID
esv2116011 CNV deletion 18987734
esv2671844 CNV deletion 23128226
esv2745619 CNV deletion 23290073
esv2745630 CNV deletion 23290073
esv3357351 CNV duplication 20981092
esv3358130 CNV insertion 20981092
esv3381476 CNV duplication 20981092
esv3585533 CNV loss 21293372
nsv460884 CNV loss 19166990
nsv545882 CNV loss 21841781
nsv545883 CNV loss 21841781
nsv819900 CNV gain 19587683
nsv834491 CNV loss 17160897
nsv947417 CNV duplication 23825009
nsv950335 CNV deletion 24416366

Variation tolerance for MAN1C1 Gene

Residual Variation Intolerance Score: 14.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.17; 51.84% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MAN1C1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MAN1C1

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

Disorders for MAN1C1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for MAN1C1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
breast abscess
  • abscess of breast
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for MAN1C1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with MAN1C1: view

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

Publications for MAN1C1 Gene

  1. Characterization of a cDNA encoding a novel human Golgi alpha 1, 2-mannosidase (IC) involved in N-glycan biosynthesis. (PMID: 10915796) Tremblay LO … Herscovics A (The Journal of biological chemistry 2000) 2 3 4 56
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 43 56
  3. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 56
  4. Genome-wide CRISPR screen identifies HNRNPL as a prostate cancer dependency regulating RNA splicing. (PMID: 28611215) Fei T … Brown M (Proceedings of the National Academy of Sciences of the United States of America 2017) 3 56
  5. An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome. (PMID: 24275569) Bian Y … Zou H (Journal of proteomics 2014) 4 56

Products for MAN1C1 Gene

Sources for MAN1C1 Gene