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MKS1 Gene

protein-coding   GIFtS: 55
GCID: GC17M056282

Meckel Syndrome, Type 1


(Previous symbol: MKS)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Meckel Syndrome, Type 11 2     POC122
MKS1 2 5     FABB Proteome-Like Protein2
BBS132 5     Meckel Syndrome Type 1 Protein2
POC12 Centriolar Protein Homolog (Chlamydomonas)1     POC12 Centriolar Protein Homolog2
MES2     

External Ids:    HGNC: 71211   Entrez Gene: 549032   Ensembl: ENSG000000111437   OMIM: 6098835   UniProtKB: Q9NXB03   

Export aliases for MKS1 gene to outside databases

Previous GC identifers: GC17U990060 GC17M053638 GC17M051643


(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 MKS1 Gene:
The protein encoded by this gene localizes to the basal body and is required for formation of the primary cilium
in ciliated epithelial cells. Mutations in this gene result in Meckel syndrome type 1 and in Bardet-Biedl
syndrome type 13. Multiple transcript variants encoding different isoforms have been found for this gene.
(provided by RefSeq, Sep 2009)

GeneCards Summary for MKS1 Gene:
MKS1 (Meckel syndrome, type 1) is a protein-coding gene. Diseases associated with MKS1 include meckel syndrome 1, and bardet-biedl syndrome 13.

UniProtKB/Swiss-Prot: MKS1_HUMAN, Q9NXB0
Function: Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and
acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes.
Involved in centrosome migration to the apical cell surface during early ciliogenesis. Required for ciliary
structure and function, including a role in regulating length and appropriate number through modulating
centrosome duplication. Required for cell branching morphology

Gene Wiki entry for MKS1 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:
NC_000017.11  NT_010783.16  NC_018928.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the MKS1 gene promoter:
         Nkx6-1   p53   STAT3   RelA   IRF-1   NF-kappaB   NF-kappaB1   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMKS1 promoter sequence
   Search Chromatin IP Primers for MKS1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MKS1


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

Entrez Gene cytogenetic band: 17q22   Ensembl cytogenetic band:  17q22   HGNC cytogenetic band: 17q21-q24

MKS1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MKS1 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M056282:  view genomic region     (about GC identifiers)

Start:
56,282,797 bp from pter      End:
56,296,966 bp from pter
Size:
14,170 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: MKS1_HUMAN, Q9NXB0 (See protein sequence)
Recommended Name: Meckel syndrome type 1 protein  
Size: 559 amino acids; 64528 Da
Subunit: Part of the tectonic-like complex (also named B9 complex) (By similarity). Interacts with TCTN3 and AHI1
(By similarity). Interacts with FLNA
Sequence caution: Sequence=AAH10061.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=BAA91105.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: B7WNX4 F5H885 Q284T0 Q96G13
Alternative splicing: 3 isoforms:  Q9NXB0-1   Q9NXB0-2   Q9NXB0-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for MKS1: NX_Q9NXB0

Explore proteomics data for MKS1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys246, Lys507
  • Modification sites at PhosphoSitePlus

  • See MKS1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001159399.1  NP_060247.2  

    ENSEMBL proteins: 
     ENSP00000376827   ENSP00000316631   ENSP00000442096   ENSP00000376828   ENSP00000462179  
     ENSP00000462460   ENSP00000463826   ENSP00000462129   ENSP00000462423   ENSP00000462411  
     ENSP00000338407   ENSP00000443012  

    MKS1 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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    1 InterPro protein domain:
     IPR010796 B9_dom

    Graphical View of Domain Structure for InterPro Entry Q9NXB0

    ProtoNet protein and cluster: Q9NXB0

    UniProtKB/Swiss-Prot: MKS1_HUMAN, Q9NXB0
    Similarity: Contains 1 B9 domain


    MKS1 for domains           About GeneDecksing


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

         UniProtKB/Swiss-Prot Summary: MKS1_HUMAN, Q9NXB0
    Function: Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and
    acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes.
    Involved in centrosome migration to the apical cell surface during early ciliogenesis. Required for ciliary
    structure and function, including a role in regulating length and appropriate number through modulating
    centrosome duplication. Required for cell branching morphology

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI17185389
         
    MKS1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for MKS1:
     Increased gamma-H2AX phosphory 

         Selected MGI mutant phenotypes (inferred from 3 alleles(MGI details for Mks1) (see all 20):
     cardiovascular system  cellular  craniofacial  digestive/alimentary  embryogenesis 
     endocrine/exocrine gland  growth/size/body  hearing/vestibular/ear  hematopoietic system  homeostasis/metabolism 
     immune system  limbs/digits/tail  liver/biliary system  mortality/aging  nervous system 

    MKS1 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MKS1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for MKS1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MKS1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MKS1

    miRNA
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    2 qRT-PCR Assays for microRNAs that regulate MKS1:
    hsa-miR-3909 hsa-miR-621
    SwitchGear 3'UTR luciferase reporter plasmidMKS1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat MKS1

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    GenScript: all cDNA clones in your preferred vector (see all 2): MKS1 (NM_017777)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MKS1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MKS1

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MKS1


    (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
    MKS1_HUMAN, Q9NXB0: Cytoplasm, cytoskeleton, cilium basal body. Cytoplasm, cytoskeleton, microtubule organizing
    center, centrosome. Note=Localizes at the transition zone, a region between the basal body and the ciliary
    axoneme (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    cytosol1
    nucleus1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA17185389
    GO:0005813centrosome IDA19208769
    GO:0016020membrane IEA--
    GO:0035869ciliary transition zone ----
    GO:0036038TCTN-B9D complex ISS--

    MKS1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Pathway & Disease-focused RT2 Profiler PCR Array including MKS1: 
              Primary Cilia in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for MKS1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 12)

    Selected Interacting proteins for MKS1 (Q9NXB02, 3 ENSP000003768274) via UniProtKB, MINT, STRING, and/or I2D (see all 14)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DDX24Q9GZR72, 3MINT-65425 I2D: score=5 
    TMEM67Q5HYA83, ENSP000003899984I2D: score=1 STRING: ENSP00000389998
    SMAD2Q157963I2D: score=1 
    CEP290ENSP000003080214STRING: ENSP00000308021
    TMEM17ENSP000003350944STRING: ENSP00000335094
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0042384cilium assembly IMP19515853
    GO:0048754branching morphogenesis of an epithelial tube IEA--
    GO:0060271cilium morphogenesis ISS--

    MKS1 for ontologies           About GeneDecksing



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

    Browse Tocris compounds for MKS1



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for MKS1 gene (2 alternative transcripts): 
    NM_001165927.1  NM_017777.3  

    Unigene Cluster for MKS1:

    Meckel syndrome, type 1
    Hs.408843  [show with all ESTs]
    Unigene Representative Sequence: NM_017777
    15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000393119(uc002ivr.2 uc010wnq.2 uc021uam.1) ENST00000313863
    ENST00000537529 ENST00000393120 ENST00000583577 ENST00000577315 ENST00000577824
    ENST00000585134 ENST00000579358 ENST00000581761 ENST00000580127 ENST00000578789
    ENST00000581180 ENST00000337050 ENST00000546108
    miRNA
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    Block miRNA regulation of human, mouse, rat MKS1 using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate MKS1:
    hsa-miR-3909 hsa-miR-621
    SwitchGear 3'UTR luciferase reporter plasmidMKS1 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for MKS1
    Predesigned siRNA for gene silencing in human, mouse, rat MKS1
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    GenScript: all cDNA clones in your preferred vector (see all 2): MKS1 (NM_017777)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MKS1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MKS1
    Primer
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    OriGene qPCR primer pairs and template standards for MKS1
    OriGene qSTAR qPCR primer pairs in human, mouse for MKS1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MKS1
      QuantiTect SYBR Green Assays in human, mouse, rat MKS1
      QuantiFast Probe-based Assays in human, mouse, rat MKS1

    Additional mRNA sequence: 

    AK000352.1 AK301020.1 AK310815.1 BC010061.2 CR457229.1 DQ185029.1 

    9 DOTS entries:

    DT.114202  DT.97791161  DT.97836893  DT.75110828  DT.40254276  DT.120962415  DT.100801416  DT.120962405 
    DT.86858279 

    Selected AceView cDNA sequences (see all 140):

    AW104082 AA873722 CD671978 AL524883 AA917619 AA478968 N42042 BQ932097 
    AI675614 BQ925243 BU148482 BE208563 BX107256 AI041746 AI075045 BE378121 
    BU848884 BG777703 AA699657 BQ953274 BX350482 BM741365 BQ014063 BX472007 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for MKS1 (see all 6)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8a · 8b ^ 9a · 9b · 9c ^ 10 ^ 11a · 11b ^ 12 ^ 13a · 13b
    SP1:                                -                       -                 -     -     -     -     -                     
    SP2:                                                        -                                                               
    SP3:                                                                                                                        
    SP4:                                                                                                                        
    SP5:                                                                                            -                           


    ECgene alternative splicing isoforms for MKS1

    (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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    MKS1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CAGGAGGCCC
    MKS1 Expression
    About this image


    MKS1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Ovary (Reproductive System)
             Oviduct
    MKS1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MKS1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.408843
        Pathway & Disease-focused RT2 Profiler PCR Array including MKS1: 
              Primary Cilia in human mouse rat

    Primer
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    OriGene qPCR primer pairs and template standards for MKS1
    OriGene qSTAR qPCR primer pairs in human, mouse for MKS1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MKS1
    QuantiTect SYBR Green Assays in human, mouse, rat MKS1
    QuantiFast Probe-based Assays in human, mouse, rat MKS1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MKS1

    (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.

    Orthologs for MKS1 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mks11 , 5 Meckel syndrome, type 11, 5 86.8(n)1
    89.43(a)1
      11 (52.24 cM)5
    3807181  NM_001039684.21  NP_001034773.21 
     878532155 
    chicken
    (Gallus gallus)
    Aves MKS11 Meckel syndrome, type 1 72.38(n)
    72.56(a)
      417457  XM_415705.4  XP_415705.3 
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.134332 Xenopus laevis transcribed sequence with weak similarity more 71.58(n)    AW640234.1 
    zebrafish
    (Danio rerio)
    Actinopterygii 570509202   -- 71.28(n)    57050920 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG157306
    --
    18(a)
    1 ↔ 1
    X(12388427-12390630)


    ENSEMBL Gene Tree for MKS1 (if available)
    TreeFam Gene Tree for MKS1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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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)
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    Selected SNPs for MKS1 (see all 406)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0622924
    Bardet-Biedl syndrome 13 (BBS13)4--see VAR_0622922 C W mis40--------
    rs353750181,2
    C--56289091(+) TTTTT-/T/TT  
            
    TTTTT
    2 -- int11NA 2
    rs358961021,2
    C--56295528(+) ATAGGG/-ACGGG 2 -- int11Minor allele frequency- -:0.50NA 2
    rs1424080691,2
    C--57297921(+) CCCTCC/TCTCAC 2 -- ds50010--------
    rs1932464911,2
    --57298033(+) CTAAGA/GGCAGG 2 -- ds50010--------
    rs23023121,2
    C,F,H--57298264(+) CCATAC/TCAGCA 2 -- ds500124Minor allele frequency- T:0.09EA NS NA WA 4026
    rs171747881,2
    C,F,H--57298469(+) AGAATG/CAGGCT 2 -- ut3116Minor allele frequency- C:0.04NA NS EA EU 1427
    rs23023131,2
    C,F,H--57298527(+) TCACCG/ATCCAC 2 -- ut31 ese324Minor allele frequency- A:0.09NS EA NA WA EU 3102
    rs352982661,2
    C--57298590(+) GAGAAC/-AGCAG 2 -- ut315Minor allele frequency- -:0.00NS 190
    rs1854059081,2
    --57298619(+) ACAAGA/CCAGAA 2 -- ut310--------

    HapMap Linkage Disequilibrium report for MKS1 (56282797 - 56296966 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for MKS1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv457858CNV Loss19166990
    nsv517229CNV Gain+Loss19592680

    Human Gene Mutation Database (HGMD): MKS1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MKS1
    DNA2.0 Custom Variant and Variant Library Synthesis for MKS1

    (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: 609883   
    OMIM disorders: 249000  209900  
    UniProtKB/Swiss-Prot: MKS1_HUMAN, Q9NXB0
  • Meckel syndrome 1 (MKS1) [MIM:249000]: A disorder characterized by a combination of renal cysts and
    variably associated features including developmental anomalies of the central nervous system (typically
    encephalocele), hepatic ductal dysplasia and cysts, and polydactyly. Note=The disease is caused by mutations
    affecting the gene represented in this entry
  • Bardet-Biedl syndrome 13 (BBS13) [MIM:209900]: A syndrome characterized by usually severe pigmentary
    retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation.
    Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome
    inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus)
    may be required for clinical manifestation of some forms of the disease. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • Selected diseases for MKS1 (see all 24):    
    About MalaCards
    meckel syndrome 1    bardet-biedl syndrome 13    mks1-related bardet-biedl syndrome    mks1-related meckel syndrome
    meckel syndrome    bardet-biedl syndrome, modifier of    encephalocele    encephaloceles
    congenital nystagmus    senior-loken syndrome    bardet-biedl syndrome    pigmentary retinopathy
    nephronophthisis    cystic kidney    joubert syndrome    myelofibrosis
    polydactyly    mental retardation    diabetes mellitus    obesity

    4 diseases from the University of Copenhagen DISEASES database for MKS1:
    Polydactyly     Bardet-Biedl syndrome     Cystic kidney     Nephronophthisis

    MKS1 for disorders           About GeneDecksing

    GeneTests: MKS1
    GeneReviews: MKS1
    Genetic Association Database (GAD): MKS1
    Human Genome Epidemiology (HuGE) Navigator: MKS1 (3 documents)

    Export disorders for MKS1 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 MKS1 gene, integrated from 10 sources (see all 25):
    (articles sorted by number of sources associating them with MKS1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome. (PubMed id 18327255)1, 2, 3 Leitch C.C.... Katsanis N. (Nat. Genet. 2008)
    2. MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome. (PubMed id 16415886)1, 2, 3 Kyttaelae M.... Kestilae M. (Nat. Genet. 2006)
    3. A disease causing deletion of 29 base pairs in intron 15 in the MKS1 gene is highly associated with the campomelic variant of the Meckel-Gruber syndrome. (PubMed id 17935508)1, 4, 9 Auber B....Rehder H. (Clin. Genet. 2007)
    4. Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online. (PubMed id 17397051)1, 4, 9 Khaddour R....AttiAc-Bitach T. (Hum. Mutat. 2007)
    5. The Meckel-Gruber syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation. (PubMed id 17185389)1, 2, 9 Dawe H.R.... Johnson C.A. (Hum. Mol. Genet. 2007)
    6. Functional interactions between the ciliopathy-associated Meckel syndrome 1 (MKS1) protein and two novel MKS1-related (MKSR) proteins. (PubMed id 19208769)1, 2, 9 Bialas N.J.... Leroux M.R. (J. Cell Sci. 2009)
    7. Ciliary and centrosomal defects associated with mutation and depletion of the Meckel syndrome genes MKS1 and MKS3. (PubMed id 19515853)1, 2 Tammachote R.... Harris P.C. (Hum. Mol. Genet. 2009)
    8. 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)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    10. The locus for Meckel syndrome with multiple congenital anomalies maps to chromosome 17q21-q24. (PubMed id 7550354)1, 3 Paavola P....Peltonen L. (Nat. Genet. 1995)

    (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)
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    Entrez Gene: 54903 HGNC: 7121 AceView: FLJ20345 Ensembl:ENSG00000011143 euGenes: HUgn54903
    ECgene: MKS1 H-InvDB: MKS1

    (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 MKS1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=MKS1[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for MKS1 gene:
    Search GeneIP for patents involving MKS1

    GeneCards and IP:
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