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MKLN1 Gene

protein-coding   GIFtS: 57
GCID: GC07P130794

Muskelin 1, Intracellular Mediator Containing Kelch Motifs

  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
Muskelin 1, Intracellular Mediator Containing Kelch Motifs1 2
TWA22
muskelin2

External Ids:    HGNC: 71091   Entrez Gene: 42892   Ensembl: ENSG000001285857   OMIM: 6056235   UniProtKB: Q9UL633   

Export aliases for MKLN1 gene to outside databases

Previous GC identifers: GC07P129355 GC07P130415 GC07P130428 GC07P130469 GC07P130663 GC07P125110


(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 MKLN1 Gene:
Muskelin is an intracellular protein that acts as a mediator of cell spreading and cytoskeletal responses to the
extracellular matrix component thrombospondin I (MIM 188060) (Adams et al., 1998 (PubMed 9724633)).(supplied by
OMIM, Mar 2008)

GeneCards Summary for MKLN1 Gene:
MKLN1 (muskelin 1, intracellular mediator containing kelch motifs) is a protein-coding gene. Diseases associated with MKLN1 include ocular albinism, and aggressive periodontitis.

UniProtKB/Swiss-Prot: MKLN1_HUMAN, Q9UL63
Function: Acts as a mediator of cell spreading and cytoskeletal responses to the extracellular matrix component
THBS1 (By similarity)

Gene Wiki entry for MKLN1 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_000007.14  NT_007933.16  NC_018918.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the MKLN1 gene promoter:
         Elk-1   MEF-2   Egr-4   Evi-1   MEF-2A   CREB   Egr-2   deltaCREB   aMEF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 7): MKLN1 promoter sequence
   Search Chromatin IP Primers for MKLN1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MKLN1


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

Entrez Gene cytogenetic band: 7q32   Ensembl cytogenetic band:  7q32.3   HGNC cytogenetic band: 7q32

MKLN1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MKLN1 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P130794:  view genomic region     (about GC identifiers)

Start:
130,794,855 bp from pter      End:
131,181,398 bp from pter
Size:
386,544 bases      Orientation:
plus strand

1 alternative location:
Chr7+,CRA_TCAG 130,134,571-130,521,037     

(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: MKLN1_HUMAN, Q9UL63 (See protein sequence)
Recommended Name: Muskelin  
Size: 735 amino acids; 84768 Da
Subunit: Interacts with the C-terminal tail of the prostaglandin EP3 receptor alpha isoform (By similarity).
Interacts with RANBP9. Part of a complex consisting of RANBP9, MKLN1 and GID8
Secondary accessions: A4D1M8 A6NG43 Q9NSK4 Q9NUS8
Alternative splicing: 2 isoforms:  Q9UL63-1   Q9UL63-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for MKLN1: NX_Q9UL63

Explore proteomics data for MKLN1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See MKLN1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001138826.1  NP_037387.2  

    ENSEMBL proteins: 
     ENSP00000398094   ENSP00000387920   ENSP00000399954   ENSP00000412815   ENSP00000323527  
     ENSP00000407705  

    MKLN1 Human Recombinant Protein Products:

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    Novus Biologicals MKLN1 Protein
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    Cloud-Clone Corp. Proteins for MKLN1

    MKLN1 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    Novus Biologicals MKLN1 Antibodies
    Search for Antibodies for MKLN1 at Abcam
    Cloud-Clone Corp. Antibodies for MKLN1
    Search ThermoFisher Antibodies for MKLN1
    LSBio Antibodies in human, mouse, rat for MKLN1

    MKLN1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Cloud-Clone Corp. ELISAs for MKLN1
    Cloud-Clone Corp. CLIAs for MKLN1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 6):
     IPR011043 Gal_Oxase/kelch_b-propeller
     IPR006594 LisH_dimerisation
     IPR008979 Galactose-bd-like
     IPR006595 CTLH_C
     IPR010565 Muskelin_N

    Graphical View of Domain Structure for InterPro Entry Q9UL63

    ProtoNet protein and cluster: Q9UL63

    2 Blocks protein domains:
    IPB006594 Lissencephaly type-1-like homology motif
    IPB006595 CTLH


    UniProtKB/Swiss-Prot: MKLN1_HUMAN, Q9UL63
    Similarity: Contains 1 CTLH domain
    Similarity: Contains 6 Kelch repeats
    Similarity: Contains 1 LisH domain


    MKLN1 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: MKLN1_HUMAN, Q9UL63
    Function: Acts as a mediator of cell spreading and cytoskeletal responses to the extracellular matrix component
    THBS1 (By similarity)

         Genatlas biochemistry entry for MKLN1:
    muskelin,intracellular,widely expressed,specific mediator of cell spreading and cytoskeletal response to the
    extracellular matrix macromolecule thrombospondin 1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
         
    MKLN1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for MKLN1:
     Decreased cell number 

         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Mkln1):
     integument  nervous system  pigmentation 

    MKLN1 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MKLN1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for MKLN1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MKLN1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MKLN1

    miRNA
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    miRTarBase miRNAs that target MKLN1:
    hsa-mir-128-3p (MIRT022004), hsa-mir-124-3p (MIRT022639), hsa-mir-27a-3p (MIRT028726), hsa-mir-324-5p (MIRT043148), hsa-mir-101-3p (MIRT027314), hsa-mir-320b (MIRT036235), hsa-mir-100-5p (MIRT048420)

    Block miRNA regulation of human, mouse, rat MKLN1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate MKLN1 (see all 97):
    hsa-miR-323-3p hsa-miR-548j hsa-miR-193a-3p hsa-miR-188-5p hsa-miR-106a hsa-miR-3653 hsa-miR-578 hsa-miR-3122
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for MKLN1
    Predesigned siRNA for gene silencing in human, mouse, rat MKLN1

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector (see all 2): MKLN1 (NM_001145354)
    Sino Biological Human cDNA Clone for MKLN1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MKLN1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MKLN1

    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MKLN1


    (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
    MKLN1_HUMAN, Q9UL63: Cytoplasm (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol2
    nucleus2
    cytoskeleton1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--

    MKLN1 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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for MKLN1
    Interactions:

        Search GeneGlobe Interaction Network for MKLN1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

    Selected Interacting proteins for MKLN1 (Q9UL633 ENSP000003235274) via UniProtKB, MINT, STRING, and/or I2D (see all 10)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MYCP011063, ENSP000003672074I2D: score=2 STRING: ENSP00000367207
    RANBP9Q96S593, ENSP000000116194I2D: score=1 STRING: ENSP00000011619
    SLX4Q8IY923, ENSP000002940084I2D: score=1 STRING: ENSP00000294008
    RNPS1Q152873, ENSP000003158594I2D: score=2 STRING: ENSP00000315859
    SREBF2Q127723I2D: score=2 
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007155cell adhesion ----
    GO:0007165signal transduction NAS10640805

    MKLN1 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 MKLN1



    (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 MKLN1 gene (2 alternative transcripts): 
    NM_001145354.1  NM_013255.4  

    Unigene Cluster for MKLN1:

    Muskelin 1, intracellular mediator containing kelch motifs
    Hs.44693  [show with all ESTs]
    Unigene Representative Sequence: NM_001145354
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000421797 ENST00000416992 ENST00000429546 ENST00000446815 ENST00000494286
    ENST00000352689(uc011kpl.2 uc011kpm.2 uc003vqs.3 uc003vqu.3)
    ENST00000494785(uc010lmh.2) ENST00000458153 ENST00000498778 ENST00000497746
    ENST00000496815 ENST00000468830
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat MKLN1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate MKLN1 (see all 97):
    hsa-miR-323-3p hsa-miR-548j hsa-miR-193a-3p hsa-miR-188-5p hsa-miR-106a hsa-miR-3653 hsa-miR-578 hsa-miR-3122
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat MKLN1
    Clone
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    OriGene clones in human, mouse for MKLN1 (see all 12)
    OriGene ORF clones in mouse, rat for MKLN1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): MKLN1 (NM_001145354)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MKLN1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MKLN1
    Primer
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    OriGene qPCR primer pairs and template standards for MKLN1
    OriGene qSTAR qPCR primer pairs in human, mouse for MKLN1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MKLN1
      QuantiTect SYBR Green Assays in human, mouse, rat MKLN1
      QuantiFast Probe-based Assays in human, mouse, rat MKLN1

    Additional mRNA sequence: 

    AF047489.1 AF086386.1 AK002024.1 AK025088.1 AK057978.1 AK074367.1 AK130754.1 AK294384.1 
    AK310452.1 AL162071.1 AL833458.1 BC002834.2 BC013938.1 BC016007.1 BC067825.1 BX537433.1 
    BX538253.1 

    16 DOTS entries:

    DT.92419835  DT.218476  DT.214121  DT.95157286  DT.86848680  DT.102832723  DT.121094149  DT.97805327 
    DT.40109772  DT.95365561  DT.99959582  DT.121094294  DT.97825272  DT.121094139  DT.121094264  DT.95277277 

    Selected AceView cDNA sequences (see all 309):

    CA432875 AI339676 BP336489 AA844169 AI375632 AA781987 AU133802 BQ030233 
    BM716777 AA894683 AI654320 AA478739 AW236456 BU735680 AW271856 N50359 
    R96047 BP336446 AI804289 BC002834 BQ023801 NM_013255 AI348249 AI269004 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for MKLN1 (see all 6)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b · 13c ^ 14a · 14b ^ 15a · 15b · 15c ^ 16 ^ 17a · 17b ^
    SP1:                                                                                                              -                       -                 -   
    SP2:                                                                                                              -                       -                 -   
    SP3:                                                                                                              -                       -                 -   
    SP4:                    -     -     -                                                                                                                           
    SP5:                                                                                                                                      -                     

    ExUns: 18 ^ 19a · 19b
    SP1:                  
    SP2:                  
    SP3:  -               
    SP4:                  
    SP5:                  


    ECgene alternative splicing isoforms for MKLN1

    (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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    MKLN1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATCTCTGGCT
    MKLN1 Expression
    About this image

    MKLN1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MKLN1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.44693
        Custom PCR Arrays for MKLN1
    Primer
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    QuantiTect SYBR Green Assays in human, mouse, rat MKLN1
    QuantiFast Probe-based Assays in human, mouse, rat MKLN1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MKLN1

    (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 MKLN1 gene from Selected species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mkln11 , 5 muskelin 1, intracellular mediator containing kelch more1, 5 93.06(n)1
    99.18(a)1
      6 (12.57 cM)5
    274181  NM_013791.21  NP_038819.11 
     313987355 
    chicken
    (Gallus gallus)
    Aves MKLN11 muskelin 1, intracellular mediator containing kelch more 85.75(n)
    96.83(a)
      418250  NM_001030773.1  NP_001025944.1 
    lizard
    (Anolis carolinensis)
    Reptilia MKLN16
    muskelin 1, intracellular mediator containing kelc...
    95(a)
    1 ↔ 1
    5(1217864-1310173)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.297332 Xenopus laevis transcribed sequence with strong similarity more 79.29(n)    BJ063891.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.115232 Danio rerio muskelin mRNA, complete cds 77.96(n)    AF418017.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta muskelin1 , 3 muskelin1 46(a)3
    54.15(n)1
    49.25(a)1
      49B103
    363861  NM_136957.31  NP_610801.11 


    ENSEMBL Gene Tree for MKLN1 (if available)
    TreeFam Gene Tree for MKLN1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MKLN1 gene
    1 SIMAP similar gene for MKLN1 using alignment to 6 protein entries:     MKLN1_HUMAN (see all proteins):
    DKFZp686K2366

    MKLN1 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), 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 MKLN1 (see all 7008)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs720685211,2
    C--130271668(+) TTTTC-/T/T   
      TTTTTT
    TTTTT
    1 -- int11CSA 2
    rs573997241,2
    C--130464325(+) ACACA-/CA/CACACA
    CACACACACACA
    GTCTC
    2 -- int12NA 4
    rs18665981,2
    C,F,A,H--130795611(-) GAGAGG/AAGCGG 1 -- int118Minor allele frequency- A:0.06NS NA WA CSA EA 1266
    rs1436278151,2
    --130795688(+) TGAAAC/TTCTGA 1 -- int10--------
    rs753313441,2
    F--130795778(+) TGGCAC/TGTAGG 1 -- int11Minor allele frequency- T:0.01NA 120
    rs14397951,2
    C,A,H--130795834(+) AATTAC/TGATTA 1 -- int110Minor allele frequency- T:0.31NA WA CSA EA 371
    rs14397961,2
    C,A,H--130795897(+) TTTTTA/TATGTC 1 -- int19Minor allele frequency- T:0.31NA WA CSA EA 369
    rs1807201761,2
    --130795947(+) GAAAGG/TCTAAT 1 -- int10--------
    rs1480580331,2
    --130796006(+) GCTCTC/TTAATC 1 -- int10--------
    rs1416439601,2
    --130796075(+) GGTTAA/GAGGCA 1 -- int10--------

    HapMap Linkage Disequilibrium report for MKLN1 (130794855 - 131044855 bp, first 250kb of MKLN1)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for MKLN1 (see all 15):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2675097CNV Deletion23128226
    esv2673252CNV Deletion23128226
    esv2035982CNV Deletion18987734
    esv2661967CNV Deletion23128226
    esv2656854CNV Deletion23128226
    esv2572412CNV Deletion19546169
    esv2539523CNV Insertion19546169
    nsv5951CNV Loss18451855
    nsv523877CNV Loss19592680
    nsv824306CNV Loss20364138

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    (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: 605623    OMIM disorders: --

    8 diseases for MKLN1:    
    About MalaCards
    ocular albinism    aggressive periodontitis    albinism    lissencephaly
    periodontitis    brain cancer    neuronitis    malaria

    2 diseases from the University of Copenhagen DISEASES database for MKLN1:
    Lissencephaly     Ocular albinism

    MKLN1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): MKLN1
    Human Genome Epidemiology (HuGE) Navigator: MKLN1 (1 document)

    Export disorders for MKLN1 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 MKLN1 gene, integrated from 10 sources (see all 32):
    (articles sorted by number of sources associating them with MKLN1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. cDNA cloning of human muskelin and localisation of the muskelin (MKLN1) gene to human chromosome 7q32 and mouse chromosome 6 B1/B2 by physical mapping and FISH. (PubMed id 10640805)1, 2, 3, 9 Adams J.C. and Zhang L. (Cytogenet. Cell Genet. 1999)
    2. A novel nuclear protein, Twa1, and Muskelin comprise a complex with RanBPM. (PubMed id 12559565)1, 2, 9 Umeda M.... Nishimoto T. (Gene 2003)
    3. Novel loci for major depression identified by genome-wide association study of Sequenced Treatment Alternatives to Relieve Depression and meta-analysis of three studies. (PubMed id 20038947)1, 4 Shyn S.I....Hamilton S.P. (Mol. Psychiatry 2011)
    4. 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)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    6. 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)
    7. Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)1, 2 Scherer S.W.... Tsui L.-C. (Science 2003)
    8. Molecular analysis of muskelin identifies a conserved discoidin-like domain that contributes to protein self-association. (PubMed id 15084145)1, 9 Prag S....Adams J.C. (Biochem. J. 2004)
    9. Muskelin, a novel intracellular mediator of cell adhesive and cytoskeletal responses to thrombospondin-1. (PubMed id 9724633)1, 9 Adams J.C....Lawler J. (EMBO J. 1998)
    10. Novel role of the muskelin-RanBP9 complex as a nucleocytoplasmic mediator of cell morphology regulation. (PubMed id 18710924)1, 9 Valiyaveettil M....Adams J.C. (J. Cell Biol. 2008)

    (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: 4289 HGNC: 7109 AceView: MKLN1 Ensembl:ENSG00000128585 euGenes: HUgn4289
    ECgene: MKLN1 H-InvDB: MKLN1

    (According to HUGE)
    About This Section

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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)
    About This Section

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    NameDescription
    PharmGKB entry for MKLN1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for MKLN1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for MKLN1 gene:
    Search GeneIP for patents involving MKLN1

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



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