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MAN1A1 Gene

protein-coding   GIFtS: 63
GCID: GC06M119540

Mannosidase, Alpha, Class 1A, Member 1

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(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 1A, Member 11 2     MAN92
Alpha-1,2-Mannosidase IA2 3     man(9)-alpha-mannosidase2
Processing Alpha-1,2-Mannosidase IA2 3     Mannosyl-Oligosaccharide 1,2-Alpha-Mannosidase IA2
Man9-mannosidase2 3     Man(9)-alpha-mannosidase3
EC 3.2.1.1133 8     Mannosidase Alpha Class 1A Member 13
HUMM32     EC 3.2.18
HUMM92     

External Ids:    HGNC: 68211   Entrez Gene: 41212   Ensembl: ENSG000001118857   OMIM: 6043445   UniProtKB: P339083   

Export aliases for MAN1A1 gene to outside databases

Previous GC identifers: GC06M119269 GC06M119456 GC06M119479 GC06M117081


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for MAN1A1 Gene:
This gene encodes a class I mammalian Golgi 1,2-mannosidase which is a type II transmembrane protein. This protein
catalyzes the hydrolysis of three terminal mannose residues from peptide-bound Man(9)-GlcNAc(2) oligosaccharides
and belongs to family 47 of glycosyl hydrolases. (provided by RefSeq, Jul 2012)

GeneCards Summary for MAN1A1 Gene:
MAN1A1 (mannosidase, alpha, class 1A, member 1) is a protein-coding gene. GO annotations related to this gene include mannosidase activity and calcium ion binding. An important paralog of this gene is MAN1C1.

UniProtKB/Swiss-Prot: MA1A1_HUMAN, P33908
Function: Involved in the maturation of Asn-linked oligosaccharides. Progressively trim alpha-1,2-linked mannose
residues from Man(9)GlcNAc(2) to produce Man(5)GlcNAc(2)

Gene Wiki entry for MAN1A1 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000006.11  NT_025741.16  NC_018917.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the MAN1A1 gene promoter:
         STAT5B   AhR   C/EBPbeta   Sp1   Pax-2   Pax-2a   E47   NRF-2   POU2F1   POU2F1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMAN1A1 promoter sequence
   Search Chromatin IP Primers for MAN1A1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MAN1A1


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

Entrez Gene cytogenetic band: 6q22   Ensembl cytogenetic band:  6q22.31   HGNC cytogenetic band: 6q22

MAN1A1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MAN1A1 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M119540:  view genomic region     (about GC identifiers)

Start:
119,498,374 bp from pter      End:
119,670,926 bp from pter
Size:
172,553 bases      Orientation:
minus 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: MA1A1_HUMAN, P33908 (See protein sequence)
Recommended Name: Mannosyl-oligosaccharide 1,2-alpha-mannosidase IA  
Size: 653 amino acids; 72969 Da
Cofactor: Calcium
Secondary accessions: Q9NU44 Q9UJI3

Explore the universe of human proteins at neXtProt for MAN1A1: NX_P33908

Explore proteomics data for MAN1A1 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn513
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for MAN1A1 (P33908) (see all 15)
     QSFFLAE  SGVLFHS  DSFYEYL  FFLPDSSK 


    See MAN1A1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_005898.2  
    ENSEMBL proteins: 
     ENSP00000357453   ENSP00000357451  
    Reactome Protein details: P33908

    MAN1A1 Human Recombinant Protein Products:

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    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. Proteins for MAN1A1

     
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    antibodies-online proteins for MAN1A1 (7 products) 

     
    Search antibodies-online for peptides for MAN1A1

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    antibodies-online kits for MAN1A1 (17 products) 


    (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 P33908

    ProtoNet protein and cluster: P33908

    1 Blocks protein domain: IPB001382 Glycosyl hydrolase family 47 signature

    UniProtKB/Swiss-Prot: MA1A1_HUMAN, P33908
    Similarity: Belongs to the glycosyl hydrolase 47 family


    Find genes that share domains with MAN1A1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MA1A1_HUMAN, P33908
    Function: Involved in the maturation of Asn-linked oligosaccharides. Progressively trim alpha-1,2-linked mannose
    residues from Man(9)GlcNAc(2) to produce Man(5)GlcNAc(2)
    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

         Genatlas biochemistry entry for MAN1A1:
    mannosyl-oligo saccharide alpha-1,2-mannosidase,class 1A,member 1,membrane type,expressed in kidney,located in
    endoplasmic reticulum,involved in processing of Asp-linked (N) glycans

         Enzyme Numbers (IUBMB): EC 3.2.1.1131 2 EC 3.2.12

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004571mannosyl-oligosaccharide 1,2-alpha-mannosidase activity IEA--
    GO:0005509calcium ion binding IEA--
    GO:0015923mannosidase activity TAS8223597
         
    Find genes that share ontologies with MAN1A1           About GenesLikeMe


    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for MAN1A1

    miRNA
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    miRTarBase miRNAs that target MAN1A1:
    hsa-mir-335-5p (MIRT017036)

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    Selected qRT-PCR Assays for microRNAs that regulate MAN1A1 (see all 30):
    hsa-miR-485-5p hsa-miR-323-3p hsa-miR-607 hsa-miR-3607-5p hsa-miR-19b-2* hsa-miR-507 hsa-miR-3125 hsa-miR-3916
    SwitchGear 3'UTR luciferase reporter plasmidMAN1A1 3' UTR sequence
    Inhib. RNA
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    (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
    MA1A1_HUMAN, P33908: Golgi apparatus membrane; Single-pass type II membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    golgi apparatus5
    endoplasmic reticulum4
    cytosol1
    extracellular1
    mitochondrion1
    peroxisome1
    plasma membrane1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane TAS--
    GO:0005783endoplasmic reticulum TAS8223597
    GO:0005793endoplasmic reticulum-Golgi intermediate compartment IDA15308636
    GO:0016020membrane TAS8223597
    GO:0016021integral component of membrane IEA--

    Find genes that share ontologies with MAN1A1           About GenesLikeMe


    (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 MAN1A1 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


    Find genes that share SuperPaths with MAN1A1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for MAN1A1
        Progressive trimming of alpha-1,2-linked mannose residues from Man9/8/7GlcNAc2 to produce Man5GlcNAc2


    3 Kegg Pathways  (Kegg details for MAN1A1):
        N-Glycan biosynthesis
    Metabolic pathways
    Protein processing in endoplasmic reticulum

    UniProtKB/Swiss-Prot: MA1A1_HUMAN, P33908
    Pathway: Protein modification; protein glycosylation

        Pathway & Disease-focused RT2 Profiler PCR Array including MAN1A1: 

              Glycosylation in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for MAN1A1

    STRING Interaction Network Preview (showing 5 interactants - click image to see more details)

    5 Interacting proteins for MAN1A1 (ENSP000003574534) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GANABENSP000003404664STRING: ENSP00000340466
    MGAT1ENSP000003118884STRING: ENSP00000311888
    RER1ENSP000003020884STRING: ENSP00000302088
    RAD54BENSP000003366064STRING: ENSP00000336606
    RAD54LENSP000003610434STRING: ENSP00000361043
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

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

    Find genes that share ontologies with MAN1A1           About GenesLikeMe



    (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 

    Browse Tocris compounds for MAN1A1 (MA1A1)

    3 HMDB Compounds for MAN1A1    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--

    1 DrugBank Compound for MAN1A1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Alpha-D-Mannose-- 3458-28-4target--10592235

    2 Novoseek inferred chemical compound relationships for MAN1A1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    swainsonine 85.8 1 7588811 (1)
    polysaccharide 32.6 1 7881169 (1)



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    (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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for MAN1A1 gene: 
    NM_005907.3  

    Unigene Cluster for MAN1A1:

    Mannosidase, alpha, class 1A, member 1
    Hs.102788  [show with all ESTs]
    Unigene Representative Sequence: NM_005907
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000368468(uc003pym.1) ENST00000368466(uc010kei.2)
    miRNA
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    hsa-miR-485-5p hsa-miR-323-3p hsa-miR-607 hsa-miR-3607-5p hsa-miR-19b-2* hsa-miR-507 hsa-miR-3125 hsa-miR-3916
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      QuantiFast Probe-based Assays in human, mouse, rat MAN1A1

    Additional mRNA sequence: 

    AK024588.1 AK025599.1 AK307383.1 BC065827.1 

    12 DOTS entries:

    DT.415434  DT.91831498  DT.95170144  DT.101983394  DT.91765816  DT.100672272  DT.91721437  DT.212672 
    DT.101961124  DT.100730562  DT.100797253  DT.70104126 

    Selected AceView cDNA sequences (see all 202):

    BI491218 AV701089 AI271872 AW074081 AA418381 AI370722 BM313391 NM_005907 
    AV701287 CB269881 BG656417 H01223 AI440055 AW074342 AA639524 AA846247 
    BC065827 AI421694 AI620106 AA976976 AV709183 AI963418 AI679505 BQ632635 

    GeneLoc Exon Structure


    (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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    MAN1A1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGGTTTTCAT
    MAN1A1 Expression
    About this image


    MAN1A1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 11) fully expand
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Midbrain tegmentum
     
     Bone (Muscoskeletal System)    fully expand to see all 2 entries
             Membranous Facial Bones
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Metencephalon
     
     Kidney (Urinary System)
             Metanephros
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
    MAN1A1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MAN1A1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.102788
        Pathway & Disease-focused RT2 Profiler PCR Array including MAN1A1: 
              Glycosylation in human mouse rat

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    QuantiFast Probe-based Assays in human, mouse, rat MAN1A1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MAN1A1

    (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 MAN1A1 gene from Selected species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Man1a1 , 5 mannosidase 1, alpha1, 5 87.85(n)1
    90.81(a)1
      10 (27.40 cM)5
    171551  NM_008548.41  NP_032574.11 
     539047885 
    chicken
    (Gallus gallus)
    Aves MAN1A11 mannosidase, alpha, class 1A, member 1 79.35(n)
    86.73(a)
      421726  XM_419762.4  XP_419762.4 
    lizard
    (Anolis carolinensis)
    Reptilia MAN1A16
    mannosidase, alpha, class 1A, member 1
    76(a)
    1 ↔ 1
    1(184543979-184602541)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.342752 Xenopus laevis transcribed sequence with moderate similarity more 82.08(n)    BJ625611.1 
    zebrafish
    (Danio rerio)
    Actinopterygii man1a11 mannosidase, alpha, class 1A, member 1 68.25(n)
    74.35(a)
      566078  XM_689343.6  XP_694435.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta alpha-Man-I3 N-linked glycosylation
    mannosyl-oligosaccharide
    more
    58(a)     --
    worm
    (Caenorhabditis elegans)
    Secernentea C52E4.53
    D2030.11
    alpha 1,2, mannosidase3
    D2030.11
    50(a)
    (best of 2)3
    54.08(n)1
    51.24(a)1
      V(11985739-11988071)3
    1725101  NM_059715.51  NP_492116.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes MNS16
    Alpha-1,2-mannosidase involved in ER quality contr...
    30(a)
    1 → many
    X(667644-669293) YJR131W
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons MNS21 MNS2 51.44(n)
    44.65(a)
      821668  NM_113010.2  NP_566675.1 
    rice
    (Oryza sativa)
    Liliopsida Os04g06064001 Os04g0606400 50.68(n)
    45.31(a)
      4336917  NM_001060335.1  NP_001053800.1 


    ENSEMBL Gene Tree for MAN1A1 (if available)
    TreeFam Gene Tree for MAN1A1 (if available)

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

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    Paralogs for MAN1A1 gene
    MAN1C12  MAN1B12  MAN1A22  
    4 SIMAP similar genes for MAN1A1 using alignment to 2 protein entries:     MA1A1_HUMAN (see all proteins):
    pp6318    MAN1C1    MAN1A2    MAN1B1

    Find genes that share paralogs with MAN1A1           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for MAN1A1
    PGOHUM00000234536


    (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)
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    Selected SNPs for MAN1A1 (see all 3745)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs350769781,2
    C--117106274(+) TCTCT-/CTGT  
            
    GACTC
    1 -- int11Minor allele frequency- CTGT:0.00NA 2
    rs119699051,2
    C,F,H--119497880(+) GAAAAA/GTTTCG 1 -- ds50014Minor allele frequency- G:0.00NS EA 414
    rs65690531,2
    C,F,A,H--119497884(+) AATTTC/TGGAGG 1 -- ds500127Minor allele frequency- T:0.35NA NS EA WA CSA 2898
    rs1399603301,2
    --119497978(+) ATATAG/TAATTT 1 -- ds50010--------
    rs603111771,2
    C--119498100(+) TTTGTG/TCTATT 1 -- ds50012Minor allele frequency- T:0.11WA 120
    rs1840803631,2
    --119498117(+) ATCAAA/CGCTTC 1 -- ds50010--------
    rs170808571,2
    C,F,H--119498153(+) ATATGT/CTAGAT 1 -- ds50019Minor allele frequency- C:0.05NA NS EA WA 682
    rs1435054971,2
    --119498176(+) TTATTG/TGATTA 1 -- ds50010--------
    rs1124498341,2
    C,F--119498243(+) TTTCCT/CTGTCA 1 -- ds50012Minor allele frequency- C:0.05CSA WA 119
    rs1892574341,2
    --119498265(+) GTGTGG/TTATGG 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for MAN1A1 (119498374 - 119670926 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for MAN1A1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2732626CNV Deletion23290073
    esv2732629CNV Deletion23290073
    esv2507819CNV Deletion19546169
    esv2732627CNV Deletion23290073
    esv2540099CNV Deletion19546169
    nsv522725CNV Loss19592680
    nsv886570CNV Gain21882294
    nsv886571CNV Gain21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MAN1A1
    DNA2.0 Custom Variant and Variant Library Synthesis for MAN1A1

    (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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    OMIM gene information: 604344    OMIM disorders: --


    Find genes that share disorders with MAN1A1           About GenesLikeMe

    Genetic Association Database (GAD): MAN1A1
    Human Genome Epidemiology (HuGE) Navigator: MAN1A1 (2 documents)

    Export disorders for MAN1A1 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 MAN1A1 gene, integrated from 10 sources (see all 47):
    (articles sorted by number of sources associating them with MAN1A1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning and primary structure of Man9-mannosidase from human kidney. (PubMed id 8223597)1, 2, 3, 9 Bause E.... Schmidt B. (Eur. J. Biochem. 1993)
    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 analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (Nature 2003)
    4. Man9-mannosidase from human kidney is expressed in COS cells as a Golgi-resident type II transmembrane N-glycoprotein. (PubMed id 7588811)1, 9 Bieberich E. and Bause E. (Eur. J. Biochem. 1995)
    5. Man9-mannosidase from pig liver is a type-II membrane protein that resides in the endoplasmic reticulum. cDNA cloning and expression of the enzyme in COS 1 cells. (PubMed id 9219526)1, 9 Bieberich E....Bause E. (Eur. J. Biochem. 1997)
    6. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
    7. Differential expression and function of I+-mannosidase I in stimulated naive and memory CD4+ T cells. (PubMed id 21577142)1 Gebuhr I....Sawitzki B. (J. Immunother. 2011)
    8. Large-scale proteomics and phosphoproteomics of urinary exosomes. (PubMed id 19056867)1 Gonzales P.A....Knepper M.A. (J. Am. Soc. Nephrol. 2009)
    9. The mammalian UPR boosts glycoprotein ERAD by suppressing the proteolytic downregulation of ER mannosidase I. (PubMed id 19258393)1 Termine D.J....Sifers R.N. (J. Cell. Sci. 2009)
    10. Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach. (PubMed id 19413330)2 Gauci S....Mohammed S. (Anal. Chem. 2009)

    (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)
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    Entrez Gene: 4121 HGNC: 6821 AceView: MAN1A1 Ensembl:ENSG00000111885 euGenes: HUgn4121
    ECgene: MAN1A1 Kegg: 4121 H-InvDB: MAN1A1

    (According to HUGE)
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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)
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    NameDescription
    PharmGKB entry for MAN1A1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for MAN1A1 gene:
    Search GeneIP for patents involving MAN1A1

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



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