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MARK1 Gene

protein-coding   GIFtS: 64
GCID: GC01P220701

MAP/Microtubule Affinity-Regulating Kinase 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
MAP/Microtubule Affinity-Regulating Kinase 11 2 3     EC 2.7.11.13 8
MARK2 3     KIAA14773 5
Par-1c2 3     Serine/Threonine-Protein Kinase MARK12
Par1c2 3     EC 2.7.11.263
PAR1 Homolog C2 3     EC 2.7.118

External Ids:    HGNC: 68961   Entrez Gene: 41392   Ensembl: ENSG000001161417   OMIM: 6065115   UniProtKB: Q9P0L23   

Export aliases for MARK1 gene to outside databases

Previous GC identifers: GC01P219297 GC01P216545 GC01P217248 GC01P217758 GC01P217757 GC01P217089 GC01P218768 GC01P191375


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for MARK1 Gene:
MARK1 (MAP/microtubule affinity-regulating kinase 1) is a protein-coding gene. Diseases associated with MARK1 include ocular hypertension, and peutz-jeghers syndrome. GO annotations related to this gene include phosphatidylinositol-4,5-bisphosphate binding and protein serine/threonine kinase activity. An important paralog of this gene is BRSK1.

UniProtKB/Swiss-Prot: MARK1_HUMAN, Q9P0L2
Function: Serine/threonine-protein kinase involved in cell polarity and microtubule dynamics regulation.
Phosphorylates DCX, MAP2, MAP4 and MAPT/TAU. Involved in cell polarity by phosphorylating the
microtubule-associated proteins MAP2, MAP4 and MAPT/TAU at KXGS motifs, causing detachment from microtubules, and
their disassembly. Involved in the regulation of neuronal migration through its dual activities in regulating
cellular polarity and microtubule dynamics, possibly by phosphorylating and regulating DCX. Also acts as a
positive regulator of the Wnt signaling pathway, probably by mediating phosphorylation of dishevelled proteins
(DVL1, DVL2 and/or DVL3)

Gene Wiki entry for MARK1 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_000001.11  NT_004487.20  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the MARK1 gene promoter:
         AP-1   ATF-2   p300   MyoD   IRF-1   MEF-2A   ARP-1   c-Jun   aMEF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMARK1 promoter sequence
   Search Chromatin IP Primers for MARK1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MARK1


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

Entrez Gene cytogenetic band: 1q41   Ensembl cytogenetic band:  1q41   HGNC cytogenetic band: 1q41

MARK1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MARK1 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P220701:  view genomic region     (about GC identifiers)

Start:
220,701,568 bp from pter      End:
220,837,803 bp from pter
Size:
136,236 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, 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, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: MARK1_HUMAN, Q9P0L2 (See protein sequence)
Recommended Name: Serine/threonine-protein kinase MARK1  
Size: 795 amino acids; 89003 Da
Cofactor: Magnesium (By similarity)
Miscellaneous: Phosphorylation of MAPT/tau by MARK1 could play a role in early steps of Alzheimer disease.
Pathological aggregation of MAPT/tau to neurofibrillary tangles, filamentous structures consisting of paired
helical filaments (PHFs), is one of the hallmarks of Alzheimer disease. Hyperphosphorylation by MARK1 could be
the initial step for this abnormal aggregation of tau in Alzheimer disease and animal models of tauopathy
(PubMed:11089574)
Sequence caution: Sequence=BAA96001.1; Type=Erroneous initiation; Sequence=BAB55152.1; Type=Frameshift;
Positions=763;
2 PDB 3D structures from and Proteopedia for MARK1:
2HAK (3D)        3OSE (3D)    
Secondary accessions: D3DTB0 D3DTB1 Q2HIY1 Q5VTF9 Q5VTG0 Q96SW9 Q9P251
Alternative splicing: 3 isoforms:  Q9P0L2-1   Q9P0L2-2   Q9P0L2-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for MARK1: NX_Q9P0L2

Explore proteomics data for MARK1 at MOPED

Post-translational modifications: 

  • Phosphorylation at Thr-613 by PRKCZ/aPKC in polarized epithelial cells inhibits the kinase activity (By
    similarity). Phosphorylated at Thr-215 by STK11/LKB1 in complex with STE20-related adapter-alpha (STRADA) pseudo
    kinase and CAB39. Phosphorylation at Thr-215 by TAOK1 activates the kinase activity, leading to phosphorylation
    and detachment of MAPT/TAU from microtubules. Phosphorylation at Ser-219 by GSK3-beta (GSK3B) inhibits the kinase
    activity1
  • Ubiquitination2 at Lys783
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for MARK1 (Q9P0L2) (see all 27)
     FRQIVSA  FAKVKLA  EYASGGE  LVAHGRM 


    See MARK1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (5 alternative transcripts): 
    NP_001273053.1  NP_001273055.1  NP_001273057.1  NP_001273058.1  NP_061120.3  

    ENSEMBL proteins: 
     ENSP00000355885   ENSP00000355884   ENSP00000386017  

    MARK1 Human Recombinant Protein Products:

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    Novus Biologicals MARK1 Protein
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    MARK1 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    Novus Biologicals MARK1 Antibodies
    Abcam antibodies for MARK1 (Q9P0L2, Q96L34)
    Cloud-Clone Corp. Antibodies for MARK1
    ThermoFisher Antibodies for MARK1
    LSBio Antibodies in human, mouse, rat for MARK1

    MARK1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for MARK1
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    Cloud-Clone Corp. ELISAs for MARK1
    Cloud-Clone Corp. CLIAs for MARK1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    IUPHAR Guide to PHARMACOLOGY protein family classification: MAP/microtubule affinity-regulating kinase 1
    MARK subfamily

    Selected InterPro protein domains (see all 8):
     IPR017441 Protein_kinase_ATP_BS
     IPR001772 KA1_dom
     IPR002290 Ser/Thr_dual-sp_kinase_dom
     IPR011009 Kinase-like_dom
     IPR008271 Ser/Thr_kinase_AS

    Graphical View of Domain Structure for InterPro Entry Q9P0L2

    ProtoNet protein and cluster: Q9P0L2

    2 Blocks protein domains:
    IPB000449 Ubiquitin-associated domain
    IPB001772 Kinase-associated


    UniProtKB/Swiss-Prot: MARK1_HUMAN, Q9P0L2
    Domain: The UBA domain does not seem to bind ubiquitin and ubiquitin-like and might play a role in regulating the
    enzyme conformation and localization. Activation of the kinase activity following phosphorylation at Thr-208 is
    accompanied by a conformational change that alters the orientation of the UBA domain with respect to the
    catalytic domain (By similarity)
    Domain: The KA1 domain mediates binding to phospholipids and targeting to membranes. Binds phosphatidic acid (PA),
    phosphatidylserine (PtdSer) and phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2)
    Similarity: Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. SNF1 subfamily
    Similarity: Contains 1 KA1 (kinase-associated) domain
    Similarity: Contains 1 protein kinase domain
    Similarity: Contains 1 UBA domain


    MARK1 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: MARK1_HUMAN, Q9P0L2
    Function: Serine/threonine-protein kinase involved in cell polarity and microtubule dynamics regulation.
    Phosphorylates DCX, MAP2, MAP4 and MAPT/TAU. Involved in cell polarity by phosphorylating the
    microtubule-associated proteins MAP2, MAP4 and MAPT/TAU at KXGS motifs, causing detachment from microtubules, and
    their disassembly. Involved in the regulation of neuronal migration through its dual activities in regulating
    cellular polarity and microtubule dynamics, possibly by phosphorylating and regulating DCX. Also acts as a
    positive regulator of the Wnt signaling pathway, probably by mediating phosphorylation of dishevelled proteins
    (DVL1, DVL2 and/or DVL3)
    Catalytic activity: ATP + a protein = ADP + a phosphoprotein
    Catalytic activity: ATP + [tau protein] = ADP + [tau protein] phosphate
    Enzyme regulation: Inhibited by phosphorylation at Ser-219 (By similarity). Activated by phosphorylation on
    Thr-215

         Enzyme Numbers (IUBMB): EC 2.7.11.11 2 EC 2.7.112 EC 2.7.11.261

         Gene Ontology (GO): Selected molecular function terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000287magnesium ion binding IDA14976552
    GO:0001786phosphatidylserine binding IDA--
    GO:0004672protein kinase activity ----
    GO:0004674protein serine/threonine kinase activity IDA14976552
    GO:0004713protein tyrosine kinase activity ----
         
    MARK1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for MARK1:
     Decreased viability with pacli 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MARK1
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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MARK1

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    Selected qRT-PCR Assays for microRNAs that regulate MARK1 (see all 62):
    hsa-miR-140-5p hsa-miR-549 hsa-miR-3607-3p hsa-miR-300 hsa-miR-513a-5p hsa-miR-200a hsa-miR-4305 hsa-miR-25
    SwitchGear 3'UTR luciferase reporter plasmidMARK1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for MARK1
    Predesigned siRNA for gene silencing in human, mouse, rat MARK1

    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector: MARK1 (NM_018650)
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MARK1


    (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
    MARK1_HUMAN, Q9P0L2: Cell membrane; Peripheral membrane protein. Cytoplasm, cytoskeleton (By similarity).
    Note=Appears to localize to an intracellular network (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    cytoskeleton4
    cytosol3
    nucleus3

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ISS--
    GO:0005856cytoskeleton ISS--
    GO:0005886plasma membrane IDA--
    GO:0015630microtubule cytoskeleton TAS9108484

    MARK1 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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    SuperPaths for MARK1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Cytoplasmic microtubules
    Cytoplasmic microtubules0.32
    2Regulation of Microtubule Cytoskeleton
    Regulation of Microtubule Cytoskeleton
    3Glucose / Energy Metabolism
    Glucose / Energy Metabolism
    4Cytoskeletal Signaling
    Cytoskeletal Signaling

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 Cell Signaling Technology (CST) Pathways for MARK1
        Cytoskeletal Signaling
    Glucose / Energy Metabolism

    1 BioSystems Pathway for MARK1
        Regulation of Microtubule Cytoskeleton



    MARK1 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including MARK1: 
              Notch Signaling Targets in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for MARK1

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

    Selected Interacting proteins for MARK1 (Q9P0L22, 3 ENSP000003558844) via UniProtKB, MINT, STRING, and/or I2D (see all 67)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SFNP319472, 3MINT-3975066 I2D: score=2 
    USP21Q9UK803, ENSP000002898654I2D: score=2 STRING: ENSP00000289865
    YWHAEP622583, ENSP000002643354I2D: score=2 STRING: ENSP00000264335
    STK11Q158313, ENSP000003248564I2D: score=1 STRING: ENSP00000324856
    MARK2Q7KZI73, ENSP000003891844I2D: score=2 STRING: ENSP00000389184
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000226microtubule cytoskeleton organization IEA--
    GO:0001764neuron migration ISS--
    GO:0006468protein phosphorylation IDA14976552
    GO:0007010cytoskeleton organization ISS--
    GO:0016055Wnt signaling pathway IEA--

    MARK1 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 MARK1

    3 HMDB Compounds for MARK1    About this table
    CompoundSynonyms CAS #PubMed Ids
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    MagnesiumMagnesium (see all 2)7439-95-4--



    (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,
    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 MARK1 gene (5 alternative transcripts): 
    NM_001286124.1  NM_001286126.1  NM_001286128.1  NM_001286129.1  NM_018650.4  

    Unigene Cluster for MARK1:

    MAP/microtubule affinity-regulating kinase 1
    Hs.497806  [show with all ESTs]
    Unigene Representative Sequence: NM_018650
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000366918(uc001hmm.4) ENST00000366917 ENST00000485104 ENST00000402574(uc001hmn.4 uc009xdw.3 uc010pun.2)


    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate MARK1 (see all 62):
    hsa-miR-140-5p hsa-miR-549 hsa-miR-3607-3p hsa-miR-300 hsa-miR-513a-5p hsa-miR-200a hsa-miR-4305 hsa-miR-25
    SwitchGear 3'UTR luciferase reporter plasmidMARK1 3' UTR sequence
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    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat MARK1
      QuantiFast Probe-based Assays in human, mouse, rat MARK1

    Additional mRNA sequence: 

    AB040910.1 AF154845.1 AK027493.1 AK098103.1 AK295506.1 AK314614.1 AL512724.1 BC068608.1 
    BC113869.1 BC114478.1 

    7 DOTS entries:

    DT.112495  DT.95164015  DT.102836206  DT.100752193  DT.121445764  DT.75117389  DT.121290240 

    Selected AceView cDNA sequences (see all 77):

    BG680272 CK904215 N99718 AW664146 CK904214 BQ890987 AK098103 BM021078 
    NM_018650 CK299559 R52660 BC068608 AI864143 CB216691 BM695949 AL512724 
    AW304703 AB040910 AI740480 AW079096 F09467 AW271968 AF154845 BM927241 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for MARK1    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16 ^ 17 ^ 18 ^ 19a · 19b · 19c
    SP1:                                -                                                                                                                     
    SP2:                                -           -                                                                             -                           
    SP3:                                                                                                                                                      
    SP4:                                                                                                                                                      


    ECgene alternative splicing isoforms for MARK1

    (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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    MARK1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATTGCTTAAA
    MARK1 Expression
    About this image

    MARK1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MARK1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.497806

    UniProtKB/Swiss-Prot: MARK1_HUMAN, Q9P0L2
    Tissue specificity: Highly expressed in heart, skeletal muscle, brain, fetal brain and fetal kidney

        Pathway & Disease-focused RT2 Profiler PCR Array including MARK1: 
              Notch Signaling Targets in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MARK1

    (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 MARK1 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mark11 , 5 MAP/microtubule affinity-regulating kinase 11, 5 87(n)1
    94.34(a)1
      1 (89.26 cM)5
    2267781  NM_145515.21  NP_663490.21 
     1848964435 
    chicken
    (Gallus gallus)
    Aves MARK11 MAP/microtubule affinity-regulating kinase 1 84.21(n)
    92.32(a)
      421342  XM_004935311.1  XP_004935368.1 
    lizard
    (Anolis carolinensis)
    Reptilia MARK16
    MAP/microtubule affinity-regulating kinase 1
    89(a)
    1 ↔ 1
    1(243423526-243521999)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia mark11 MAP/microtubule affinity-regulating kinase 1 76.36(n)
    88.87(a)
      100490022  XM_002936023.2  XP_002936069.2 
    zebrafish
    (Danio rerio)
    Actinopterygii mark11 MAP/microtubule affinity-regulating kinase 1 71.05(n)
    83.98(a)
      100003170  NM_001114476.1  NP_001107948.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta KP78a3 protein amino acid phosphorylation
    protein kinase
    60(a)
    (best of 5)
      86E4   --
    worm
    (Caenorhabditis elegans)
    Secernentea kin-293 serine/threonine-protein kinase 42(a)
    (best of 6)
      X(2880113-2887689)   --


    ENSEMBL Gene Tree for MARK1 (if available)
    TreeFam Gene Tree for MARK1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MARK1 gene
    BRSK12  BRSK22  SNRK2  SIK32  SIK22  MARK22  NIM1K2  SIK12  
    MARK42  MARK32  
    Selected SIMAP similar genes for MARK1 using alignment to 2 protein entries:     MARK1_HUMAN (see all proteins) (see all similar genes):
    DKFZp547M202    MARK4    MARK2    KIAA0999    Par1b    SIK3
    MARK3    PRKAA2    NUAK1    PRKAA1    NUAK2    PRKACA
    TSSK3    PRKACB    AURKC    CAMK1G    CAMK2B    KIN27

    MARK1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for MARK1
    PGOHUM00000261259


    (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 MARK1 (see all 2432)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0407604
    A gastric adenocarcinoma sample4--see VAR_0407602 Y C mis40--------
    VAR_0407614
    An ovarian serous carcinoma sample4--see VAR_0407612 N T mis40--------
    rs1817063191,2
    --191373842(+) TCTTCC/TGTATC 1 -- us2k10--------
    rs3734478981,2
    C--191463870(+) TTTTTT/-AAAAA 1 -- int12Minor allele frequency- -:0.25NA 4
    rs75163931,2
    C,F,H--220699644(+) CCACGA/TTTATA 1 -- us2k15Minor allele frequency- T:0.01NS EA NA 540
    rs1424769041,2
    --220699927(+) AATGTA/GTCTTG 1 -- us2k10--------
    rs618301921,2
    F--220699961(+) GGCACG/ATAAAT 1 -- us2k11Minor allele frequency- A:0.50NA 2
    rs1909157241,2
    --220699975(+) TGACAG/TTCTCA 1 -- us2k10--------
    rs38203461,2
    C--220700071(+) TTGTTT/GTTTTT 1 -- us2k11Minor allele frequency- G:0.00NA 2
    rs2019601791,2
    C--220700085(-) CAAATA/GANNNN 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for MARK1 (220701568 - 220837803 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for MARK1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2470287CNV Insertion19546169
    nsv508061CNV Loss20534489

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MARK1
    DNA2.0 Custom Variant and Variant Library Synthesis for MARK1

    (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.)
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    OMIM gene information: 606511    OMIM disorders: --

    UniProtKB/Swiss-Prot: MARK1_HUMAN, Q9P0L2
  • Note=Genetic variations in MARK1 may be associated with susceptibility to autism. MARK1 is overexpressed
    in the prefrontal cortex of patients with autism and causes changes in the function of cortical dendrites

  • 9 diseases for MARK1:    About MalaCards
    ocular hypertension    peutz-jeghers syndrome    tauopathy    alcohol dependence
    hypertension    alzheimer's disease    multiple myeloma    myeloma
    neuronitis


    MARK1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015
    Genetic Association Database (GAD): MARK1
    Human Genome Epidemiology (HuGE) Navigator: MARK1 (2 documents)

    Export disorders for MARK1 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 MARK1 gene, integrated from 10 sources (see all 64):
    (articles sorted by number of sources associating them with MARK1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Convergent evidence identifying MAP/microtubule affinity-regulating kinase 1 (MARK1) as a susceptibility gene for autism. (PubMed id 18492799)1, 2, 4, 9 Maussion G....Simonneau M. (Hum. Mol. Genet. 2008)
    2. MARK - a novel family of protein kinases that phosphorylate microtubule-associated proteins and trigger microtubule disruption. (PubMed id 9108484)1, 2, 3 Drewes G.... Mandelkow E. (Cell 1997)
    3. 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)
    4. Structural variations in the catalytic and ubiquitin-associated domains of microtubule-associated protein/microtubule affinity regulating kinase (MARK) 1 and MARK2. (PubMed id 16803889)1, 2 Marx A.... Mandelkow E. (J. Biol. Chem. 2006)
    5. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (Nature 2006)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    7. LKB1 is a master kinase that activates 13 kinases of the AMPK subfamily, including MARK/PAR-1. (PubMed id 14976552)1, 2 Lizcano J.M....Alessi D.R. (EMBO J. 2004)
    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. Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10819331)1, 2 Nagase T.... Ohara O. (DNA Res. 2000)
    10. A genetic screen identifies an LKB1-MARK signalling axis controlling the Hippo-YAP pathway. (PubMed id 24362629)1 Mohseni M....Camargo F.D. (Nat. Cell Biol. 2014)

    (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: 4139 HGNC: 6896 AceView: MARK1 Ensembl:ENSG00000116141 euGenes: HUgn4139
    ECgene: MARK1 H-InvDB: MARK1

    (According to HUGE)
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    HUGE: KIAA1477

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for MARK1 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 MARK1 gene:
    Search GeneIP for patents involving MARK1

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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