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MNAT1 Gene

protein-coding   GIFtS: 66
GCID: GC14P061201

MNAT CDK-Activating Kinase Assembly Factor 1

(Previous names: menage a trois 1 (CAK assembly factor), menage a trois homolog...)
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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
MNAT CDK-Activating Kinase Assembly Factor 11 2     CDK-Activating Kinase Assembly Factor1
MAT12 3 5     Menage A Trois Homolog 1, Cyclin H Assembly Factor (Xenopus Laevis)1
Menage A Trois 1 (CAK Assembly Factor)1 2     TFB32
Cyclin-G1-Interacting Protein2 3     CDK-Activating Kinase Assembly Factor MAT12
CAP352 3     Cyclin G1 Interacting Protein2
RNF662 3     Menage A Trois Homolog 1, Cyclin H Assembly Factor2
CDK7/Cyclin-H Assembly Factor2 3     Menage A Trois3
RING Finger Protein 662 3     p353
RING Finger Protein MAT12 3     p363

External Ids:    HGNC: 71811   Entrez Gene: 43312   Ensembl: ENSG000000204267   OMIM: 6026595   UniProtKB: P519483   

Export aliases for MNAT1 gene to outside databases

Previous GC identifers: GC14P058527 GC14P054995 GC14P059191 GC14P060271 GC14P041364


(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 MNAT1 Gene:
The protein encoded by this gene, along with cyclin H and CDK7, forms the CDK-activating kinase (CAK) enzymatic
complex. This complex activates several cyclin-associated kinases and can also associate with TFIIH to activate
transcription by RNA polymerase II. Two transcript variants encoding different isoforms have been found for this
gene. (provided by RefSeq, Sep 2011)

GeneCards Summary for MNAT1 Gene:
MNAT1 (MNAT CDK-activating kinase assembly factor 1) is a protein-coding gene. GO annotations related to this gene include RNA polymerase II carboxy-terminal domain kinase activity and protein N-terminus binding.

UniProtKB/Swiss-Prot: MAT1_HUMAN, P51948
Function: Stabilizes the cyclin H-CDK7 complex to form a functional CDK-activating kinase (CAK) enzymatic complex.
CAK activates the cyclin-associated kinases CDK1, CDK2, CDK4 and CDK6 by threonine phosphorylation. CAK complexed
to the core-TFIIH basal transcription factor activates RNA polymerase II by serine phosphorylation of the
repetitive C-terminus domain (CTD) of its large subunit (POLR2A), allowing its escape from the promoter and
elongation of the transcripts. Involved in cell cycle control and in RNA transcription by RNA polymerase II

Gene Wiki entry for MNAT1 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_000014.8  NT_026437.13  NC_018925.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the MNAT1 gene promoter:
         Egr-3   Lmo2   MyoD   Nkx2-5   AP-2gamma   E47   AP-2beta   AP-2alpha   AP-2alphaA   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): MNAT1 promoter sequence
   Search Chromatin IP Primers for MNAT1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MNAT1


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

Entrez Gene cytogenetic band: 14q23   Ensembl cytogenetic band:  14q23.1   HGNC cytogenetic band: 14q23

MNAT1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MNAT1 gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14P061201:  view genomic region     (about GC identifiers)

Start:
61,201,459 bp from pter      End:
61,436,671 bp from pter
Size:
235,213 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, 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: MAT1_HUMAN, P51948 (See protein sequence)
Recommended Name: CDK-activating kinase assembly factor MAT1  
Size: 309 amino acids; 35823 Da
Subunit: Associates primarily with CDK7 and cyclin H to form the CAK complex. CAK can further associate with the
core-TFIIH to form the TFIIH basal transcription factor
1 PDB 3D structure from and Proteopedia for MNAT1:
1G25 (3D)    
Secondary accessions: G3V1U8 Q15817 Q6ICQ7
Alternative splicing: 2 isoforms:  P51948-1   P51948-2   

Explore the universe of human proteins at neXtProt for MNAT1: NX_P51948

Explore proteomics data for MNAT1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys167, Lys180, Lys202
  • Modification sites at PhosphoSitePlus

  • See MNAT1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001171434.1  NP_002422.1  

    ENSEMBL proteins: 
     ENSP00000261245   ENSP00000446437   ENSP00000451379   ENSP00000451017  
    Reactome Protein details: P51948

    MNAT1 Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    TFIIH: General transcription factor IIH complex subunits
    RNF: RING-type (C3HC4) zinc fingers

    Selected InterPro protein domains (see all 6):
     IPR001841 Znf_RING
     IPR004575 MAT1/Tfb3
     IPR013083 Znf_RING/FYVE/PHD
     IPR003903 Ubiquitin-int_motif
     IPR017907 Znf_RING_CS

    Graphical View of Domain Structure for InterPro Entry P51948

    ProtoNet protein and cluster: P51948

    1 Blocks protein domain: IPB001841 Zn-finger

    UniProtKB/Swiss-Prot: MAT1_HUMAN, P51948
    Similarity: Contains 1 RING-type zinc finger
    Similarity: Contains 1 UIM (ubiquitin-interacting motif) repeat


    Find genes that share domains with MNAT1           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: MAT1_HUMAN, P51948
    Function: Stabilizes the cyclin H-CDK7 complex to form a functional CDK-activating kinase (CAK) enzymatic complex.
    CAK activates the cyclin-associated kinases CDK1, CDK2, CDK4 and CDK6 by threonine phosphorylation. CAK complexed
    to the core-TFIIH basal transcription factor activates RNA polymerase II by serine phosphorylation of the
    repetitive C-terminus domain (CTD) of its large subunit (POLR2A), allowing its escape from the promoter and
    elongation of the transcripts. Involved in cell cycle control and in RNA transcription by RNA polymerase II

         Genatlas biochemistry entry for MNAT1:
    CDK activating kinase (CAK1) assembly factor MAT1 (menage a trois),36kDa,forming a ternary complex with CDK7 and
    CCNH (see symbols),associating in the multisubunit complex TFIIH (GTF2H),putatively involved in cell cycle
    control,transcription,DNA repair

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI10801852
    GO:0008094contributes to DNA-dependent ATPase activity IDA9852112
    GO:0008270zinc ion binding IEA--
    GO:0008353contributes to RNA polymerase II carboxy-terminal domain kinase activity IDA9852112
    GO:0047485protein N-terminus binding IPI11445587
         
    Find genes that share ontologies with MNAT1           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for MNAT1:
     Upregulation of Wnt/beta-caten 

         7 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Mnat1):
     behavior/neurological  embryogenesis  growth/size/body  mortality/aging  nervous system 
     normal  reproductive system 

    Find genes that share phenotypes with MNAT1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for MNAT1: Mnat1tm2.1Tpm Mnat1tm1Tpm

       genOway: Develop your customized and physiologically relevant rodent model for MNAT1

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    hsa-mir-26b-5p (MIRT029383)

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    SwitchGear 3'UTR luciferase reporter plasmidMNAT1 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
    MAT1_HUMAN, P51948: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol3

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005654nucleoplasm TAS--
    GO:0005675holo TFIIH complex IDA9852112
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--

    Find genes that share ontologies with MNAT1           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 MNAT1 About   (see all 20)  
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Formation of RNA Pol II elongation complex
    mRNA Capping0.93
    RNA Polymerase II Pre-transcription Events0.73
    RNA Pol II CTD phosphorylation and interaction with CE0.93
    Transcription of the HIV genome0.71
    RNA Pol II CTD phosphorylation and interaction with CE0.93
    RNA Polymerase II Transcription Initiation And Promoter Clearance0.67
    Formation of the Early Elongation Complex0.77
    RNA Polymerase II Transcription Initiation0.67
    2Global Genomic NER (GG-NER)
    Global Genomic NER (GG-NER)0.69
    Dual incision reaction in GG-NER0.62
    Nucleotide excision repair0.69
    Formation of incision complex in GG-NER0.62
    3E2F mediated regulation of DNA replication
    G1/S Transition0.81
    G1 to S cell cycle control0.35
    Mitotic G1-G1/S phases0.81
    4DNA Repair
    Transcription-coupled NER (TC-NER)0.90
    Formation of transcription-coupled NER (TC-NER) repair complex0.65
    Nucleotide Excision Repair0.90
    DNA Repair0.45
    Dual incision reaction in TC-NER0.65
    5RNA Polymerase I Promoter Opening
    RNA Polymerase I Transcription0.78
    RNA Polymerase I Promoter Clearance0.78
    RNA Polymerase I Chain Elongation0.78
    RNA Polymerase I, RNA Polymerase III, and Mitochondrial Transcription0.73


    Find genes that share SuperPaths with MNAT1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 GeneGo (Thomson Reuters) Pathways for MNAT1
        Cell cycle Regulation of G1/S transition (part 2)
    Transcription Ligand-Dependent Transcription of Retinoid-Target genes

    4 BioSystems Pathways for MNAT1
        G1 to S cell cycle control
    Eukaryotic Transcription Initiation
    Integrated Pancreatic Cancer Pathway
    Retinoic acid receptors-mediated signaling


    Selected Reactome Pathways for MNAT1 (see all 31)
        Formation of RNA Pol II elongation complex
    Tat-mediated elongation of the HIV-1 transcript
    RNA Polymerase I Promoter Escape
    NoRC negatively regulates rRNA expression
    RNA Polymerase II Transcription Initiation And Promoter Clearance


    2 Kegg Pathways  (Kegg details for MNAT1):
        Basal transcription factors
    Nucleotide excision repair

        Pathway & Disease-focused RT2 Profiler PCR Arrays including MNAT1: 
              Cell Cycle in human mouse rat
              Ubiquitin Ligases in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for MNAT1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for MNAT1 (P519482, 3 ENSP000002612454) via UniProtKB, MINT, STRING, and/or I2D (see all 211)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HPS6Q86YV92, 3, ENSP000002992384MINT-63851 I2D: score=5 STRING: ENSP00000299238
    COPS6Q7L5N12, 3MINT-63850 I2D: score=5 
    POU5F1Q018603, ENSP000002599154I2D: score=3 STRING: ENSP00000259915
    ENSG00000235068Q018603, ENSP000004050414I2D: score=3 STRING: ENSP00000405041
    ENSG00000206454Q018603I2D: score=3 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 35):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000079regulation of cyclin-dependent protein serine/threonine kinase activity TAS8521818
    GO:0000082G1/S transition of mitotic cell cycle TAS--
    GO:0000086G2/M transition of mitotic cell cycle TAS--
    GO:0000278mitotic cell cycle TAS--
    GO:0000718nucleotide-excision repair, DNA damage removal TAS--

    Find genes that share ontologies with MNAT1           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
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      Browse compounds at ApexBio 

    Browse Tocris compounds for MNAT1 (MAT1)

    1 Novoseek inferred chemical compound relationship for MNAT1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    retinoic acid 36.5 31 15345685 (4), 12213824 (3), 19764350 (2), 15126328 (1)



    Find genes that share compounds with MNAT1           About GenesLikeMe



    (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 MNAT1 gene (2 alternative transcripts): 
    NM_001177963.1  NM_002431.3  

    Unigene Cluster for MNAT1:

    Menage a trois homolog 1, cyclin H assembly factor (Xenopus laevis)
    Hs.509523  [show with all ESTs]
    Unigene Representative Sequence: NM_002431
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000555545 ENST00000261245(uc001xfd.3 uc001xfe.3) ENST00000556764(uc010apq.2)
    ENST00000539616 ENST00000553354 ENST00000556525 ENST00000554002 ENST00000554641
    ENST00000557134
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    Additional mRNA sequence: 

    AK308701.1 BC000820.1 CR450336.1 U61835.1 X87843.1 X92669.1 

    9 DOTS entries:

    DT.445358  DT.120748962  DT.317979  DT.95376663  DT.91751656  DT.100813225  DT.91751657  DT.95378723 
    DT.95242399 

    Selected AceView cDNA sequences (see all 223):

    AA699720 BQ575860 BM692465 BG941159 Z40102 AI468151 BE465464 CA415303 
    AI359689 AI090028 CR601430 BM557882 AI275781 BM705044 AA485028 AA707136 
    AI360907 BU681521 AA491119 BG941507 BQ221792 CR602764 CA417702 AI732615 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for MNAT1    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8
    SP1:                                                      
    SP2:                                      -               


    ECgene alternative splicing isoforms for MNAT1

    (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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    MNAT1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCAGAGCTGC
    MNAT1 Expression
    About this image


    MNAT1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Brain (Nervous System)
             Cerebellum
     
     Thyroid (Endocrine System)
     
     Esophagus (Gastrointestinal Tract)
     
     Gall Bladder (Hepatobiliary System)
     
     Uterus (Reproductive System)
    MNAT1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MNAT1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.509523

    UniProtKB/Swiss-Prot: MAT1_HUMAN, P51948
    Tissue specificity: Highest levels in colon and testis. Moderate levels are present thymus, prostate, ovary, and
    small intestine. The lowest levels are found in spleen and leukocytes

        Pathway & Disease-focused RT2 Profiler PCR Arrays including MNAT1: 
              Cell Cycle in human mouse rat
              Ubiquitin Ligases in human mouse rat

    Primer
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    QuantiFast Probe-based Assays in human, mouse, rat MNAT1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MNAT1

    (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 animals and fungi.

    Orthologs for MNAT1 gene from Selected species (see all 21)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mnat11 , 5 menage a trois 11, 5 87.01(n)1
    95.78(a)1
      12 (30.37 cM)5
    174201  NM_008612.21  NP_032638.21 
     731237175 
    chicken
    (Gallus gallus)
    Aves MNAT11 menage a trois homolog 1, cyclin H assembly factor more 81.12(n)
    90.61(a)
      423521  XM_421420.4  XP_421420.2 
    lizard
    (Anolis carolinensis)
    Reptilia MNAT16
    MNAT CDK-activating kinase assembly factor 1
    87(a)
    1 ↔ 1
    GL343261.1(534306-663480)
    African clawed frog
    (Xenopus laevis)
    Amphibia mnat1-prov2 menage a trois 1 77.99(n)    BC054267.1 
    zebrafish
    (Danio rerio)
    Actinopterygii mnat11 menage a trois homolog 1 66.99(n)
    75.41(a)
      450080  NM_001006100.1  NP_001006100.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Mat11 , 3 transcription initiation from Pol II
    promoter more3
    Mat11
    52(a)3
    54.93(n)1
    55.26(a)1
      47B93
    361301  NM_136761.21  NP_610605.11 
    worm
    (Caenorhabditis elegans)
    Secernentea mnat-11 mnat-1 47.32(n)
    34.56(a)
      173602  NM_061879.8  NP_494280.3 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes TFB3(YDR460W)4
    TFB31
    Subunit of TFIIH and nucleotide excision repair factor more4
    TFB31
    47.87(n)1
    33.69(a)1
      4(1383811-1384776)4
    8520711, 4  NP_010748.31  NP_010748.14 


    ENSEMBL Gene Tree for MNAT1 (if available)
    TreeFam Gene Tree for MNAT1 (if available)

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

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    (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 MNAT1 (see all 4038)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1178640931,2
    C,F--61199586(+) TAATCT/CTAAGT 2 -- us2k11Minor allele frequency- C:0.02EA 120
    rs759705551,2
    C,F--61199621(+) ACTTCG/ACAACG 2 -- us2k11Minor allele frequency- A:0.08EA 120
    rs1382648771,2
    C--61199651(+) AAAGAC/TGTAAT 2 -- us2k10--------
    rs1143686181,2
    F--61199936(+) CTAGCC/TTGGGC 2 -- us2k11Minor allele frequency- T:0.04WA 118
    rs1833970091,2
    --61200021(+) CCATCC/TGAGTG 2 -- us2k10--------
    rs41511471,2
    C,F,H--61200068(+) TGCACA/TTATGA 2 -- us2k1 tfbs36Minor allele frequency- T:0.01NS EA NA 718
    rs1427409091,2
    --61200189(+) AGTACC/TAGAGT 2 -- us2k10--------
    rs41511481,2
    C,F,H--61200391(+) TATGGT/CTTATT 2 -- us2k111Minor allele frequency- C:0.03NS EA NA WA 1148
    rs1871736121,2
    --61200537(+) TTTTGA/GGTTTT 2 -- us2k10--------
    rs20573211,2
    C,H--61200585(-) AGTAAC/TATTCA 2 -- us2k111Minor allele frequency- T:0.10NA WA CSA EA 375

    HapMap Linkage Disequilibrium report for MNAT1 (61201459 - 61436671 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for MNAT1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2748755CNV Deletion23290073
    esv2482420CNV Deletion19546169
    esv2540729CNV Deletion19546169
    esv268846CNV Insertion20981092
    nsv507754CNV Insertion20534489
    nsv510637CNV Loss20534489
    nsv902001CNV Loss21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MNAT1
    DNA2.0 Custom Variant and Variant Library Synthesis for MNAT1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 602659    OMIM disorders: --


    Find genes that share disorders with MNAT1           About GenesLikeMe

    4 Novoseek inferred disease relationships for MNAT1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    paratuberculosis 53.8 4 11118734 (2), 11930899 (1), 12353858 (1)
    ovarian carcinoma 22.2 2 12903788 (2)
    retinoblastoma 20.4 1 11113200 (1)
    tumors 0 2 2026354 (1), 11113200 (1)

    Genetic Association Database (GAD): MNAT1
    Human Genome Epidemiology (HuGE) Navigator: MNAT1 (5 documents)

    Export disorders for MNAT1 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 MNAT1 gene, integrated from 10 sources (see all 131):
    (articles sorted by number of sources associating them with MNAT1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. In vitro assembly of a functional human CDK7-cyclin H complex requires MAT1, a novel 36 kDa RING finger protein. (PubMed id 8521818)1, 2, 9 Tassan J.-P....Nigg E.A. (EMBO J. 1995)
    2. Molecular cloning of CDK7-associated human MAT1, a cyclin-dependent kinase-activating kinase (CAK) assembly factor. (PubMed id 8521393)1, 2, 9 Yee A.... Xiong Y. (Cancer Res. 1995)
    3. Mapping of the human genes encoding cyclin H (CCNH) and the CDK-activating kinase (CAK) assembly factor MAT1 (MNAT1) to chromosome bands 5q13.3-q14 and 14q23, respectively. (PubMed id 9465303)1, 3, 9 Eki T....Hanaoka F. (Genomics 1998)
    4. Polymorphisms of CAK genes and risk for lung cancer: a case-control study in Chinese population. (PubMed id 17707548)1, 4, 9 Li Y....Lu D. (Lung Cancer 2007)
    5. Solution structure of the N-terminal domain of the human TFIIH MAT1 subunit: new insights into the RING finger family. (PubMed id 11056162)1, 2, 9 Gervais V.... Kieffer B. (J. Biol. Chem. 2001)
    6. 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)
    7. Variation within DNA repair pathway genes and risk of multiple sclerosis. (PubMed id 20522537)1, 4 Briggs F.B....Barcellos L.F. (Am. J. Epidemiol. 2010)
    8. Novel susceptibility loci for second primary tumors/recurrence in head and neck cancer patients: large-scale evaluation of genetic variants. (PubMed id 19584075)1, 4 Wu X....Hong W.K. (Cancer Prev Res (Phila) 2009)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    10. Reconstitution of the transcription factor TFIIH: assignment of functions for the three enzymatic subunits, XPB, XPD, and cdk7. (PubMed id 10024882)1, 2 Tirode F.... Egly J.-M. (Mol. Cell 1999)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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: 4331 HGNC: 7181 AceView: MNAT1 Ensembl:ENSG00000020426 euGenes: HUgn4331
    ECgene: MNAT1 Kegg: 4331 H-InvDB: MNAT1

    (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 MNAT1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for MNAT1 Genetics and Cytogenetics in Oncology and Haematology
    NIEHS-SNPshttp://egp.gs.washington.edu/data/mnat1/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for MNAT1 gene:
    Search GeneIP for patents involving MNAT1

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



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