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

MON1A Gene

protein-coding   GIFtS: 52
GCID: GC03M049946

MON1 Secretory Trafficking Family Member A

(Previous name: MON1 homolog A (yeast))
  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)
About This Section

Aliases
MON1 Secretory Trafficking Family Member A1 2
SAND12 3
MON1 Homolog A (Yeast)1
MON1 Homolog A2
Vacuolar Fusion Protein MON1 Homolog A2

External Ids:    HGNC: 282071   Entrez Gene: 843152   Ensembl: ENSG000001640777   OMIM: 6114645   UniProtKB: Q86VX93   

Export aliases for MON1A gene to outside databases

Previous GC identifer: GC03M049923


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

GeneCards Summary for MON1A Gene: 
MON1A (MON1 secretory trafficking family member A) is a protein-coding gene. Diseases associated with MON1A include space motion sickness, and syringomyelia. An important paralog of this gene is MON1B.

UniProtKB/Swiss-Prot: MON1A_HUMAN, Q86VX9
Function: Plays an important in membrane trafficking through the secretory apparatus. Not involved in endocytic
trafficking to lysosomes (By similarity)




(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NC_018914.2  NT_022517.18  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the MON1A gene promoter:
         STAT1   STAT4   STAT1beta   Tal-1beta   STAT1alpha   E47   Gfi-1   AREB6   STAT2   STAT3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMON1A promoter sequence
   Search SABiosciences Chromatin IP Primers for MON1A

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MON1A


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

Entrez Gene cytogenetic band: 3p21.31   Ensembl cytogenetic band:  3p21.31   HGNC cytogenetic band: 3p21.31

MON1A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MON1A gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M049946:  view genomic region     (about GC identifiers)

Start:
49,946,302 bp from pter      End:
49,967,606 bp from pter
Size:
21,305 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: MON1A_HUMAN, Q86VX9 (See protein sequence)
Recommended Name: Vacuolar fusion protein MON1 homolog A  
Size: 555 amino acids; 62131 Da
Sequence caution: Sequence=AAH47022.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: B2RDQ1 G5E9N1 Q8NAV7 Q9BRF3
Alternative splicing: 4 isoforms:  Q86VX9-1   Q86VX9-2   Q86VX9-3   Q86VX9-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for MON1A: NX_Q86VX9

Explore proteomics data for MON1A at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q86VX9

  • MON1A Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    MON1A Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001135973.1  NP_115731.2  

    ENSEMBL proteins: 
     ENSP00000296473   ENSP00000404793   ENSP00000399613  

    Human Recombinant Protein Products for MON1A: 
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    Cloud-Clone Corp. CLIAs for MON1A


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR004353 Vacuolar_fusion_protein_MON1

    Graphical View of Domain Structure for InterPro Entry Q86VX9

    ProtoNet protein and cluster: Q86VX9

    UniProtKB/Swiss-Prot: MON1A_HUMAN, Q86VX9
    Similarity: Belongs to the MON1/SAND family


    MON1A 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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MON1A_HUMAN, Q86VX9
    Function: Plays an important in membrane trafficking through the secretory apparatus. Not involved in endocytic
    trafficking to lysosomes (By similarity)

    Phenotypes:
         1 GenomeRNAi human phenotype for MON1A:

     Wnt reporter downregulated 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for MON1A 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MON1A 
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    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for MON1A

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

    5/70 Interacting proteins for MON1A (Q86VX92, 3 ENSP000002964734) via UniProtKB, MINT, STRING, and/or I2D (see all 70)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GFI1BQ5VTD92, 3, ENSP000003447824MINT-2877075 I2D: score=3 STRING: ENSP00000344782
    MAPK6Q166592, 3MINT-8261494 I2D: score=2 
    RGS2P412202, 3MINT-8268856 I2D: score=2 
    TAB1Q157502, 3MINT-8260207 I2D: score=2 
    MON1BQ7L1V23, ENSP000002482484I2D: score=1 STRING: ENSP00000248248
    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:0006810transport ----
    GO:0006879cellular iron ion homeostasis IEA--
    GO:0009306protein secretion IEA--
    GO:0015031protein transport ----

    MON1A for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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

    Browse Tocris compounds for MON1A

    Search CenterWatch for drugs/clinical trials and news about MON1A

    (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,
    Conferences by KenesGroup, 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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for MON1A gene (2 alternative transcripts): 
    NM_001142501.1  NM_032355.3  

    Unigene Cluster for MON1A:

    MON1 homolog A (yeast)
    Hs.655014  [show with all ESTs]
    Unigene Representative Sequence: NM_032355
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000296473(uc003cxz.3 uc003cya.3) ENST00000455683 ENST00000417270
    ENST00000486107(uc003cyb.2) ENST00000484985 ENST00000483022 ENST00000493206
    ENST00000473451(uc010hlb.2)
    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MON1A
    2 QIAGEN miScript miRNA Assays for microRNAs that regulate MON1A:
    hsa-miR-2114 hsa-miR-155
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MON1A
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MON1A
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MON1A

    Additional mRNA sequence: 

    AK074404.1 AK315630.1 BC006299.2 BC009459.1 BC047022.1 

    5 DOTS entries:

    DT.444803  DT.100022801  DT.91698873  DT.95271890  DT.91698865 

    24/102 AceView cDNA sequences (see all 102):

    BC047022 CR626253 BM919930 BU624538 CR598615 BE793894 AX747314 AK092018 
    AA827387 BC009459 BM927576 BU902545 NM_032355 CD671586 BI838292 BI084332 
    BQ920648 BC006299 BG913009 BQ946394 BG474636 CB306129 BX342304 BX390047 

    GeneLoc Exon Structure

    5/7 Alternative Splicing Database (ASD) splice patterns (SP) for MON1A (see all 7)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c · 6d · 6e ^ 7 ^ 8 ^ 9
    SP1:                          -     -     -     -     -                                                         
    SP2:                          -     -     -     -     -           -     -     -     -     -                     
    SP3:                          -     -     -     -                                                               
    SP4:                                                  -                                                         
    SP5:                          -     -     -     -     -           -     -     -     -     -                     


    ECgene alternative splicing isoforms for MON1A

    (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

    MON1A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGTTACAGCC
    MON1A Expression
    About this image


    See MON1A Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MON1A

    SOURCE GeneReport for Unigene cluster: Hs.655014
        SABiosciences Custom PCR Arrays for MON1A
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MON1A

    (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 MON1A gene from 10/20 species (see all 20)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mon1a1 , 5 MON1 homolog A (yeast)1, 5 89.55(n)1
    94.23(a)1
      9 (59.07 cM)5
    728251  NM_028369.31  NP_082645.11 
     1078881295 
    chicken
    (Gallus gallus)
    Aves MON1A1 MON1 homolog A (yeast) 76.66(n)
    80.07(a)
      415929  XM_003641966.1  XP_003642014.1 
    lizard
    (Anolis carolinensis)
    Reptilia MON1A6
    Uncharacterized protein
    73(a)
    1 ↔ 1
    2(147975937-147993932)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.167682 Transcribed sequence with moderate similarity to protein more 75.33(n)    AL849442.2 
    zebrafish
    (Danio rerio)
    Actinopterygii mon1a1 MON1 homolog A (yeast) 65.24(n)
    64.91(a)
      100073333  NM_001098770.1  NP_001092240.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG119261 CG11926 53.73(n)
    46.52(a)
      33689  NM_135024.1  NP_608868.1 
    worm
    (Caenorhabditis elegans)
    Secernentea sand-11 Protein SAND-1 41.31(n)
    30.53(a)
      177318  NM_068390.5  NP_500791.2 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes MON1(YGL124C)4
    MON11
    Protein required for fusion of cvt-vesicles and autophagosomes more4
    Mon1p1
    38.94(n)1
    31.91(a)1
      7(276714-274780)4
    8527531, 4  NP_011391.21  NP_011391.14 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT2G283901 SAND family protein 42.64(n)
    31.47(a)
      817387  NM_128399.3  NP_029426.1 
    rice
    (Oryza sativa)
    Liliopsida Os01g09760001 hypothetical protein 44.5(n)
    33.5(a)
      4324304  NM_001052098.1  NP_001045563.2 


    ENSEMBL Gene Tree for MON1A (if available)
    TreeFam Gene Tree for MON1A (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for MON1A gene
    MON1B2  
    1 SIMAP similar gene for MON1A using alignment to 1 protein entry:     MON1A_HUMAN:
    MON1B

    MON1A 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) 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

    10/400 SNPs in MON1A are shown (see all 400)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1408673721,2
    C--49945862(+) TACCAA/GGGCTC 2 -- int10--------
    rs1431135971,2
    C--49945879(+) CCCCCA/GTTTTG 2 -- int10--------
    rs799201571,2
    F--49945950(+) CACAGC/TGAGGG 2 -- int11Minor allele frequency- T:0.02WA 118
    rs580259241,2
    C--49945996(+) AGCAGG/AGGGCC 2 -- int14Minor allele frequency- A:0.09NA WA EA 360
    rs2000084291,2
    --49946018(+) TGATA-/AGAGAGG 2 -- int10--------
    rs1886622391,2
    --49946086(+) TGCCTA/GAGAAC 2 -- int10--------
    rs2015434331,2
    --49946449(+) CCATCA/GATAGG 4 R * stop-lost0--------
    rs2009761091,2
    C--49946481(-) GGAAGA/CCCGCC 4 D A mis10--------
    rs2006193391,2
    F--49946577(+) CAAAGG/ACGCCT 4 /A /V mis11Minor allele frequency- A:0.01EU 647
    rs1928210951,2
    C--49946579(+) AAGGCA/GCCTGT 4 G syn10--------

    HapMap Linkage Disequilibrium report for MON1A (49946302 - 49967606 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for MON1A:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv876767CNV Loss21882294
    nsv876766CNV Loss21882294
    nsv834688CNV Loss17160897
    nsv834689CNV Loss17160897

    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing MON1A
    DNA2.0 Custom Variant and Variant Library Synthesis for MON1A

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 611464    OMIM disorders: --

    3 diseases for MON1A:    About MalaCards
    space motion sickness    syringomyelia    motion sickness

    1 disease from the University of Copenhagen DISEASES database for MON1A:
    Syringomyelia

    MON1A for disorders           About GeneDecksing

    Genetic Association Database (GAD): MON1A
    Human Genome Epidemiology (HuGE) Navigator: MON1A (1 document)

    Export disorders for MON1A 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)
    About This Section

    PubMed articles for MON1A gene, integrated from 9 sources (see all 12):
    (articles sorted by number of sources associating them with MON1A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (2002)
    3. Mon1a protein acts in trafficking through the secretor y apparatus. (PubMed id 22665492)1 Bagley D.C....Ward D.M. (2012)
    4. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    5. A directed protein interaction network for investigat ing intracellular signal transduction. (PubMed id 21900206)1 Vinayagam A....Wanker E.E. (2011)
    6. Single-nucleotide polymorphisms, acute rejection, and severity of tubulitis in kidney transplantation, accounting for center-to-center variation. (PubMed id 21085059)4 Israni A....Oetting W.S. (2010)
    7. Identification of the switch in early-to-late endosome transition. (PubMed id 20434987)1 Poteryaev D....Spang A. (2010)
    8. Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions. (PubMed id 19690332)2 Mayya V.... Han D.K. (2009)
    9. A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)2 Dephoure N.... Gygi S.P. (2008)
    10. The DNA sequence, annotation and analysis of human chromosome 3. (PubMed id 16641997)2 Muzny D.M....Gibbs R.A. (2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 84315 HGNC: 28207 AceView: MGC13272 Ensembl:ENSG00000164077 euGenes: HUgn84315
    ECgene: MON1A H-InvDB: MON1A

    (According to HUGE)
    About This Section
      --

    (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 MON1A Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for MON1A gene:
    Search GeneIP for patents involving MON1A

    GeneCards and IP:
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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