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MAN1C1 Gene

protein-coding   GIFtS: 60
GCID: GC01P025943

Mannosidase, Alpha, Class 1C, Member 1

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Mannosidase, Alpha, Class 1C, Member 11 2     1,2-Alpha-Mannosidase IC2
Processing Alpha-1,2-Mannosidase IC2 3     Mannosyl-Oligosaccharide 1,2-Alpha-Mannosidase IC2
HMIC2 3     pp63182
MAN1A32 3     Alpha-1,2-Mannosidase IC3
MAN1C2 3     Mannosidase Alpha Class 1C Member 13
EC 3.2.1.1133 8     

External Ids:    HGNC: 190801   Entrez Gene: 571342   Ensembl: ENSG000001176437   UniProtKB: Q9NR343   

Export aliases for MAN1C1 gene to outside databases

Previous GC identifers: GC01P025424 GC01P024964 GC01P025177 GC01P025548 GC01P025628 GC01P025816 GC01P024197


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for MAN1C1 Gene:
MAN1C1 (mannosidase, alpha, class 1C, member 1) is a protein-coding gene. Diseases associated with MAN1C1 include coccidioidomycosis, and emery-dreifuss muscular dystrophy. GO annotations related to this gene include mannosyl-oligosaccharide 1,2-alpha-mannosidase activity and calcium ion binding. An important paralog of this gene is MAN1A1.

UniProtKB/Swiss-Prot: MA1C1_HUMAN, Q9NR34
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

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).




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000001.11  NT_032977.10  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the MAN1C1 gene promoter:
         Oct-B1   C/EBPbeta   oct-B3   oct-B2   AP-4   Gfi-1   POU2F2   POU2F1   POU2F1a   RSRFC4   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): MAN1C1 promoter sequence
   Search Chromatin IP Primers for MAN1C1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MAN1C1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p35   Ensembl cytogenetic band:  1p36.11   HGNC cytogenetic band: 1p35

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

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P025943:  view genomic region     (about GC identifiers)

Start:
25,943,959 bp from pter      End:
26,112,698 bp from pter
Size:
168,740 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: MA1C1_HUMAN, Q9NR34 (See protein sequence)
Recommended Name: Mannosyl-oligosaccharide 1,2-alpha-mannosidase IC  
Size: 630 amino acids; 70911 Da
Cofactor: Calcium
Secondary accessions: A6NNE2 B2RNP2 Q9Y545

Explore the universe of human proteins at neXtProt for MAN1C1: NX_Q9NR34

Explore proteomics data for MAN1C1 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Ser128, Ser132, Asn250, Asn618
  • Modification sites at PhosphoSitePlus
  • 4 DME Specific Peptides for MAN1C1 (Q9NR34)
     QSFFLAE  DSFYEYL  FNTEAHP  LLPAFNTP 


    See MAN1C1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001275939.1  NP_065112.1  

    ENSEMBL proteins: 
     ENSP00000363452   ENSP00000263979   ENSP00000363449  
    Reactome Protein details: Q9NR34

    MAN1C1 Human Recombinant Protein Products:

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    Novus Biologicals MAN1C1 Proteins
    Novus Biologicals MAN1C1 Lysate
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    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for MAN1C1

    MAN1C1 Antibody Products:

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    Abcam antibodies for MAN1C1
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    Search LSBio for Antibodies for MAN1C1

    MAN1C1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Cloud-Clone Corp. CLIAs for MAN1C1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR001382 Glyco_hydro_47

    Graphical View of Domain Structure for InterPro Entry Q9NR34

    ProtoNet protein and cluster: Q9NR34

    1 Blocks protein domain: IPB001382 Glycosyl hydrolase family 47 signature

    UniProtKB/Swiss-Prot: MA1C1_HUMAN, Q9NR34
    Similarity: Belongs to the glycosyl hydrolase 47 family


    MAN1C1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MA1C1_HUMAN, Q9NR34
    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
    Catalytic activity: Hydrolysis of the terminal (1->2)-linked alpha-D-mannose residues in the oligo-mannose
    oligosaccharide Man(9)(GlcNAc)(2)
    Enzyme regulation: Inhibited by both 1-deoxymannojirimycin and kifunensine

         Enzyme Number (IUBMB): EC 3.2.1.1131 2

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004571mannosyl-oligosaccharide 1,2-alpha-mannosidase activity TAS10915796
    GO:0005509calcium ion binding TAS10915796
         
    MAN1C1 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for MAN1C1:
     G0/1 arrest  Increased G1 DNA content 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MAN1C1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for MAN1C1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MAN1C1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MAN1C1

    miRNA
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    miRTarBase miRNAs that target MAN1C1:
    hsa-mir-20a-5p (MIRT050567), hsa-mir-130b-3p (MIRT020204), hsa-mir-93-5p (MIRT028164)

    Block miRNA regulation of human, mouse, rat MAN1C1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate MAN1C1 (see all 16):
    hsa-miR-328 hsa-miR-3673 hsa-miR-376b hsa-miR-885-5p hsa-miR-570 hsa-miR-3916 hsa-miR-3125 hsa-miR-613
    SwitchGear 3'UTR luciferase reporter plasmidMAN1C1 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for MAN1C1
    Predesigned siRNA for gene silencing in human, mouse, rat MAN1C1

    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector: MAN1C1 (NM_020379)
    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MAN1C1

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for MAN1C1 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MAN1C1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    MA1C1_HUMAN, Q9NR34: Golgi apparatus membrane; Single-pass type II membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    golgi apparatus5
    cytosol1
    extracellular1
    lysosome1
    mitochondrion1
    plasma membrane1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane TAS--
    GO:0016020membrane ----
    GO:0030173integral component of Golgi membrane TAS10915796

    MAN1C1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for MAN1C1 About    
    See pathways by source

    SuperPathContained pathways About
    1Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
    Asparagine N-linked glycosylation0.49
    Metabolism of proteins0.30
    N-Glycan biosynthesis0.49
    N-glycan trimming and elongation in the cis-Golgi0.00
    Post-translational protein modification0.43
    Progressive trimming of alpha-1,2-linked mannose residues from Man9/8/7GlcNAc2 to produce Man5GlcNAc20.00
    Transport to the Golgi and subsequent modification0.40
    2Metabolism
    Metabolic pathways0.38
    3Protein processing in endoplasmic reticulum
    Protein processing in endoplasmic reticulum

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for MAN1C1
        Progressive trimming of alpha-1,2-linked mannose residues from Man9/8/7GlcNAc2 to produce Man5GlcNAc2


    3 Kegg Pathways  (Kegg details for MAN1C1):
        N-Glycan biosynthesis
    Metabolic pathways
    Protein processing in endoplasmic reticulum

    UniProtKB/Swiss-Prot: MA1C1_HUMAN, Q9NR34
    Pathway: Protein modification; protein glycosylation


    MAN1C1 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including MAN1C1: 

              Glycosylation in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for MAN1C1

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    5 Interacting proteins for MAN1C1 (Q9NR342, 3 ENSP000003634524) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SMAD9O151982, 3MINT-62110 I2D: score=3 
    MGAT1ENSP000003118884STRING: ENSP00000311888
    GANABENSP000003404664STRING: ENSP00000340466
    WLSENSP000003468294STRING: ENSP00000346829
    RER1ENSP000003020884STRING: ENSP00000302088
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006487protein N-linked glycosylation TAS10915796
    GO:0018279protein N-linked glycosylation via asparagine TAS--
    GO:0043687post-translational protein modification TAS--
    GO:0044267cellular protein metabolic process TAS--

    MAN1C1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Compounds for MAN1C1 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    KifunensineInhibitor of class I alpha-mannosidases[109944-15-2]
    1-DeoxynojirimycinGlucosidase I and II inhibitor[19130-96-2]
    1-Deoxymannojirimycin hydrochloridealpha-Mannosidase I inhibitor[73465-43-7]
    Miglitolalpha-glucosidase inhibitor[72432-03-2]
    OGT 2115Antiangiogenic. Heparanase inhibitor[853929-59-6]

    3 HMDB Compounds for MAN1C1    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    D-MannoseDL-mannose (see all 13)3458-28-4--
    WaterDihydrogen oxide (see all 2)7732-18-5--



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for MAN1C1 gene (2 alternative transcripts): 
    NM_001289010.1  NM_020379.3  

    Unigene Cluster for MAN1C1:

    Mannosidase, alpha, class 1C, member 1
    Hs.197043  [show with all ESTs]
    Unigene Representative Sequence: AB209275
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000374332(uc001bkm.2 uc009vry.1) ENST00000263979 ENST00000473891
    ENST00000374329 ENST00000496532 ENST00000475314 ENST00000487493
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate MAN1C1 (see all 16):
    hsa-miR-328 hsa-miR-3673 hsa-miR-376b hsa-miR-885-5p hsa-miR-570 hsa-miR-3916 hsa-miR-3125 hsa-miR-613
    SwitchGear 3'UTR luciferase reporter plasmidMAN1C1 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for MAN1C1
    Predesigned siRNA for gene silencing in human, mouse, rat MAN1C1
    Clone
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    OriGene clones in human, mouse for MAN1C1 (see all 7)
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: MAN1C1 (NM_020379)
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      QuantiTect SYBR Green Assays in human, mouse, rat MAN1C1
      QuantiFast Probe-based Assays in human, mouse, rat MAN1C1

    Additional mRNA sequence: 

    AB209275.1 AF261655.1 AK128560.1 AL049274.1 BC038959.1 BC137017.1 

    12 DOTS entries:

    DT.100770912  DT.95363312  DT.447172  DT.75110270  DT.115399  DT.101966548  DT.100746631  DT.75101420 
    DT.92422892  DT.121418521  DT.40191348  DT.92422893 

    Selected AceView cDNA sequences (see all 201):

    AI452427 AW003901 BQ367265 AW236772 AW779963 AA897572 AA427619 AI494034 
    BU675226 AI565998 BF940093 AI088764 BU680612 BF223095 AI189726 AI985361 
    AA045567 AW193121 BM801248 CK819888 AI123818 H87606 BU752185 CK819889 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for MAN1C1 (see all 6)    About this scheme

    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:                                                                                -                                       


    ECgene alternative splicing isoforms for MAN1C1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    MAN1C1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CACTTTCTAA
    MAN1C1 Expression
    About this image


    MAN1C1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Blood (Cardiovascular System)    fully expand to see all 5 entries
             T-Cytotoxic Cells Peripheral Blood
     
     Thymus (Hematopoietic System)    fully expand to see all 3 entries
             T Helper Cells Thymus
     
     Placenta (Extraembryonic Tissues)
    MAN1C1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MAN1C1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.197043

    UniProtKB/Swiss-Prot: MA1C1_HUMAN, Q9NR34
    Tissue specificity: Expressed in most tissues with the exception of lung, muscle and pancreas. Highly expressed in
    placenta

        Pathway & Disease-focused RT2 Profiler PCR Array including MAN1C1: 
              Glycosylation in human mouse rat

    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for MAN1C1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MAN1C1
    QuantiTect SYBR Green Assays in human, mouse, rat MAN1C1
    QuantiFast Probe-based Assays in human, mouse, rat MAN1C1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MAN1C1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for MAN1C1 gene from Selected species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Man1c11 , 5 mannosidase, alpha, class 1C, member 11, 5 85.36(n)1
    89.79(a)1
      4 (66.88 cM)5
    2308151  NM_207237.31  NP_997120.11 
     1345616905 
    chicken
    (Gallus gallus)
    Aves MAN1C11 mannosidase, alpha, class 1C, member 1 73.94(n)
    79.06(a)
      419588  XM_417735.3  XP_417735.3 
    lizard
    (Anolis carolinensis)
    Reptilia MAN1C16
    mannosidase, alpha, class 1C, member 1
    73(a)
    1 ↔ 1
    GL343480.1(38069-103476)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia man1c11 mannosidase, alpha, class 1C, member 1 60.87(n)
    63.93(a)
      100485889  XM_002936598.2  XP_002936644.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG312026
    alpha-Man-I6
    alpha Mannosidase I
    39(a)
    38(a)
    many ↔ many
    many ↔ many
    3R(25754423-25756108)
    X(10170088-10219990)
    worm
    (Caenorhabditis elegans)
    Secernentea mans-16
    mans-26
    Protein MANS-1 (mans-1) mRNA, complete cds
    Protein MANS-2, isoform b (mans-2) mRNA, complete ...
    44(a)
    38(a)
    many ↔ many
    many ↔ many
    I(7567821-7571250) WBGene00008411
    V(11982621-11986115) WBGene00008258
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes MNS16
    Alpha-1,2-mannosidase involved in ER quality contr...
    30(a)
    1 → many
    X(667644-669293) YJR131W
    soybean
    (Glycine max)
    eudicotyledons 467370792   -- 80.05(n)  
    rice
    (Oryza sativa)
    Liliopsida AK060852.12   -- 74.67(n)    AK060852.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MAN1C1 gene
    MAN1A12  MAN1B12  MAN1A22  
    6 SIMAP similar genes for MAN1C1 using alignment to 3 protein entries:     MA1C1_HUMAN (see all proteins):
    pp6318    MAN1A2    MAN1A1    DKFZp434I213    MAN1B1    EDEM3

    MAN1C1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

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    Selected SNPs for MAN1C1 (see all 2978)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1926217061,2
    --25941976(+) TTCTGC/TCTCGT 1 -- us2k10--------
    rs37541671,2
    C,F,H--25942020(-) AAATAT/CCTACT 1 -- us2k17Minor allele frequency- C:0.01NS EA NA 752
    rs1148985161,2
    F--25942070(+) CTCTGC/TTGTTA 1 -- us2k11Minor allele frequency- T:0.01WA 118
    rs1844663921,2
    --25942335(+) ACTGTA/GGTATA 1 -- us2k10--------
    rs1121106221,2
    F--25942360(+) CATACC/ACAAAT 1 -- us2k11Minor allele frequency- A:0.50CSA 2
    rs1814177051,2
    --25942427(+) GATCTA/GTGCCC 1 -- us2k10--------
    rs786688901,2
    C--25942678(+) CCGCGA/GTCACA 1 -- us2k10--------
    rs37541661,2
    C,F,H--25942685(-) AGAGAG/TCTGTG 1 -- us2k111Minor allele frequency- T:0.29EA NS NA WA CSA 2252
    rs752193291,2
    F--25942896(+) CCTCGC/GGGGCG 1 -- us2k11Minor allele frequency- G:0.03NA 120
    rs1486732521,2
    C--25942906(+) GGGCT-/GGGGGG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for MAN1C1 (25943959 - 26112698 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for MAN1C1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2745630CNV Deletion23290073
    esv2671844CNV Deletion23128226
    esv2745619CNV Deletion23290073
    esv2116011CNV Deletion18987734
    nsv834491CNV Loss17160897
    nsv460884CNV Loss19166990
    nsv819900CNV Gain19587683
    nsv871186CNV Gain21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MAN1C1
    DNA2.0 Custom Variant and Variant Library Synthesis for MAN1C1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    6 diseases for MAN1C1:    
    About MalaCards
    coccidioidomycosis    emery-dreifuss muscular dystrophy    candidiasis    muscular dystrophy
    hiv-1    endotheliitis

    1 disease from the University of Copenhagen DISEASES database for MAN1C1:
    Emery-Dreifuss muscular dystrophy

    MAN1C1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): MAN1C1
    Human Genome Epidemiology (HuGE) Navigator: MAN1C1 (1 document)

    Export disorders for MAN1C1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for MAN1C1 gene, integrated from 10 sources (see all 28):
    (articles sorted by number of sources associating them with MAN1C1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterization of a cDNA encoding a novel human Golgi alpha 1,2- mannosidase involved in N-glycan biosynthesis. (PubMed id 10915796)1, 2, 3 Tremblay L.O. and Herscovics A. (J. Biol. Chem. 2000)
    2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    3. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (Nature 2006)
    4. Stimulation of ERAD of misfolded null Hong Kong alpha1-antitrypsin by Golgi alpha1,2-mannosidases. (PubMed id 17727818)1 Hosokawa N....Herscovics A. (Biochem. Biophys. Res. Commun. 2007)
    5. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PubMed id 16964243)1 Beausoleil S.A.... Gygi S.P. (Nat. Biotechnol. 2006)
    6. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (Genome Res. 2006)
    7. Functional proteomics mapping of a human signaling pathway. (PubMed id 15231748)1 Colland F....Gauthier J.M. (Genome Res. 2004)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    9. Glycosylation inhibitors and neuraminidase enhance human immunodeficiency virus type 1 binding and neutralization by mannose-binding lectin. (PubMed id 12560567)1 Hart M.L....Spear G.T. (J. Gen. Virol. 2003)
    10. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

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    Entrez Gene: 57134 HGNC: 19080 AceView: MAN1C1 Ensembl:ENSG00000117643 euGenes: HUgn57134
    ECgene: MAN1C1 Kegg: 57134 H-InvDB: MAN1C1

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for MAN1C1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for MAN1C1 gene:
    Search GeneIP for patents involving MAN1C1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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