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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

MAN1C1 Gene

protein-coding   GIFtS: 59
GCID: GC01P025943

mannosidase, alpha, class 1C, member 1
 Explore 6 diseases affiliated with
MAN1C1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for MAN1C1    

Aliases
for MAN1C1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Mannosidase, Alpha, Class 1C, Member 11 2     1,2-Alpha-Mannosidase IC2
HMIC1 2 3     Mannosyl-Oligosaccharide 1,2-Alpha-Mannosidase IC2
Processing Alpha-1,2-Mannosidase IC2 3     Pp63181
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


Summaries
for MAN1C1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
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:
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).




Genomic Views
for MAN1C1 gene

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.1  NT_004610.19  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for MAN1C1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for MAN1C1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
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
Subcellular location: Golgi apparatus membrane; Single-pass type II membrane protein
Secondary accessions: A6NNE2 B2RNP2 Q9Y545

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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9NR34

    • 4 DME Specific Peptides for MAN1C1 (Q9NR34)
     QSFFLAE  DSFYEYL  FNTEAHP  LLPAFNTP 

    MAN1C1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_065112.1  
    ENSEMBL proteins: 
     ENSP00000363452   ENSP00000263979   ENSP00000363449  
    Reactome Protein details: Q9NR34
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    Novus Biologicals MAN1C1 Proteins
    Novus Biologicals MAN1C1 Lysate
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    Browse ProSpec Recombinant Proteins
    Uscn Proteins for MAN1C1

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

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


    MAN1C1 for ontologies           About GeneDecksing



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    Uscn Antibodies for MAN1C1
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    Uscn ELISAs and CLIAs for MAN1C1

    Protein Domains /
    Families
    for MAN1C1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    MAN1C1 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR001382 Glyco_hydro_47

    Graphical View of Domain Structure for InterPro Entry Q9NR34

    ProtoNet protein and cluster: Q9NR34

    1 Blocks protein family: IPB001382 Glycosyl hydrolase family 47 signature

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


    Function
    for MAN1C1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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
    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

    miRNA
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    8/16 QIAGEN miScript miRNA 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 plasmid: MAN1C1 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    Search LifeMap BioReagents cell lines for MAN1C1

    In Situ Assay
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    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    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


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


    Pathways & Interactions
    for MAN1C1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Asparagine N-linked glycosylation
    		Asparagine N-linked glycosylation1.00
    		Post-translational protein modification0.44
    		N-Glycan biosynthesis0.52
    		Metabolism of proteins0.15
    2N-glycan trimming and elongation in the cis-Golgi
    		N-glycan trimming and elongation in the cis-Golgi1.00
    		Progressive trimming of alpha-1,2-linked mannose residues from Man9/8/7GlcNAc2 to produce Man5GlcNAc20.60
    3Protein processing in endoplasmic reticulum
    		Protein processing in endoplasmic reticulum1.00
    4N-glycan antennae elongation in the medial/trans-Golgi
    		Transport to the Golgi and subsequent modification0.56
    5Metabolism
    		Metabolic pathways0.38

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    5/6        Reactome Pathways for MAN1C1 (see all 6)
        Transport to the Golgi and subsequent modification
    Asparagine N-linked glycosylation
    Progressive trimming of alpha-1,2-linked mannose residues from Man9/8/7GlcNAc2 to produce Man5GlcNAc2
    Metabolism of proteins
    Post-translational protein modification


    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

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for MAN1C1

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    3 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
    About this table

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    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



    Drugs & Compounds
    for MAN1C1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for MAN1C1 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    KifunensineInhibitor of class I alpha-mannosidases[109944-15-2]
    SwainsonineInhibitor of alpha-mannosidase II[72741-87-8]
    1-Deoxymannojirimycin hydrochloridealpha-Mannosidase I inhibitor[84444-90-6]

    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--
    Search CenterWatch for drugs/clinical trials and news about MAN1C1 / MA1C1 

    Transcripts
    for MAN1C1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for MAN1C1 gene: 
    NM_020379.2  

    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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    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 plasmid: MAN1C1 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for MAN1C1 (see all 7)
    OriGene shRNA RFP: MAN1C1
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    Clone
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    Additional cDNA 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 

    24/201 AceView cDNA sequences (see all 201):

    CK819888 AW779963 F12360 BM141803 AI452427 CR624971 AA427619 AI365337 
    AA018850 AA367883 AW193121 AA897572 BQ215213 BF439113 BF593116 AF261655 
    BU680612 BM142088 AI123818 CA393149 AI928460 BQ045305 CB240941 AI494034 

    GeneLoc Exon Structure

    5/6 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

    Expression
    for MAN1C1 gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    MAN1C1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CACTTTCTAA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    MAN1C1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 9 LifeMap Cells 
    NameCategory
    PureStem™ endothelial progenitor 30-MV2-12 (Embryonic Progenitor Cell)Blood, Endothelium
    PureStem™ endothelial Progenitor 30-SM2-3 (Embryonic Progenitor Cell)Blood, Endothelium
    PureStem™ endothelial progenitor 30-SM2-1 (Embryonic Progenitor Cell)Endothelium
    PureStem™ mesenchymal Progenitor SK11 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage
    PureStem™ mesenchymal progenitor SM30 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage
    PureStem™ mesenchymal progenitor 7SMOO32 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage
    PureStem™ mesenchymal progenitor 7PEND24 (Embryonic Progenitor Cell)Cartilage, Neural Crest
    PureStem™ endothelial progenitor 30-MV2-14 (Embryonic Progenitor Cell)Endothelium
    PureStem™ progenitor Z1 (Embryonic Progenitor Cell)
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See MAN1C1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MAN1C1

    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

        SABiosciences Expression via Pathway-Focused PCR Array including MAN1C1: 
              Glycosylation in human mouse rat

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    In Situ
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    Orthologs
    for MAN1C1 gene

    (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)
    About This Section
    This gene was present in the common ancestor of eukaryotes.

    Orthologs for MAN1C1 gene from 6/24 species (see all 24)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves MAN1C11 mannosidase, alpha, class 1C, member 1 70.07(n)
    72.26(a)    		   419588  XM_417735.2  XP_417735.2 
    lizard
    (Anolis carolinensis)    		 Reptilia MAN1C16
    		 --
    		 74(a)
    		 1 ↔ 1
    		 GL343480.1(71850-104696)
    fruit fly
    (Drosophila melanogaster)    		 Insecta alpha-Man-I6
    CG312026
    		 --
    		 38(a)
    37(a)
    		 possible ortholog
    possible ortholog
    		 X(10170088-10219990)
    3R(25754423-25756108)
    worm
    (Caenorhabditis elegans)    		 Secernentea D2030.16
    C52E4.56
    		 --
    Mannosyl-oligosaccharide 1,2-alpha-mannosidase C52...
    		 45(a)
    37(a)
    		 many ↔ many
    many ↔ many
    		 I(7567817-7571246)
    V(11982602-11986096)
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons MANIB6
    MNS26
    		 mannosyl-oligosaccharide 1,2-alpha-mannosidase MNS...
    mannosyl-oligosaccharide 1,2-alpha-mannosidase MNS...
    		 36(a)
    35(a)
    		 many ↔ many
    many ↔ many
    		 1(19128144-19132318)
    3(7413847-7418410)
    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
    for MAN1C1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    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



    Genomic Variants
    for MAN1C1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/2681 NCBI SNPs in MAN1C1 are shown (see all 2681)     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
    		--25942070(+) CTCTGC/TTGTTA 1 -- us2k11Minor allele frequency- T:0.01WA 118
    rs1844663921,2
    		--25942335(+) ACTGTA/GGTATA 1 -- us2k10--------
    rs1121106221,2
    		--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 (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for MAN1C1
         1 CNV: 58380
         1 Indel: 44558

    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for MAN1C1

    Disorders / Diseases
    for MAN1C1 gene

    (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.)
    About This Section
    MAN1C1 for disorders           About GeneDecksing

    6 diseases for MAN1C1:    About MalaCards
    mannosidosis    emery-dreifuss muscular dystrophy    coccidioidomycosis    muscular dystrophy
    candidiasis    immunodeficiency

    1 disease from the University of Copenhagen DISEASES database for MAN1C1:
    Emery-Dreifuss muscular dystrophy
    Human Genome Epidemiology (HuGE) Navigator: MAN1C1 (1 document)

    Export disorders for MAN1C1 gene to outside databases

    Publications
    for MAN1C1 gene

    (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)
    About This Section

    PubMed articles for MAN1C1 gene, integrated from 9 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. (2000)
    2. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
    3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
    4. Stimulation of ERAD of misfolded null Hong Kong alpha1-antitrypsin by Golgi alpha1,2-mannosidases. (PubMed id 17727818)1 Hosokawa N....Herscovics A. (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. (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. (2006)
    7. Functional proteomics mapping of a human signaling pathway. (PubMed id 15231748)1 Colland F....Gauthier J.M. (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. (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. (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. (2002)

    External Searches for MAN1C1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing MAN1C1 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 57134 HGNC: 19080 AceView: MAN1C1 Ensembl:ENSG00000117643 euGenes: HUgn57134
    ECgene: MAN1C1 Kegg: 57134 H-InvDB: MAN1C1

    Other Databases showing MAN1C1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing MAN1C1 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for MAN1C1 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for MAN1C1 gene

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



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