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MCOLN3 Gene

protein-coding   GIFtS: 52
GCID: GC01M085483

Mucolipin 3

  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
Mucolipin 31 2
TRP-ML32
TRPML32
mucolipin-32

External Ids:    HGNC: 133581   Entrez Gene: 552832   Ensembl: ENSG000000557327   OMIM: 6074005   UniProtKB: Q8TDD53   

Export aliases for MCOLN3 gene to outside databases

Previous GC identifers: GC01M085879 GC01M084622 GC01M084772 GC01M084907 GC01M084906 GC01M085195 GC01M083593


(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 MCOLN3 Gene:
This gene encodes one of members of the mucolipin cation channel proteins. Mutation studies of the highly similar
protein in mice have shown that the protein is found in cochlea hair cells, and mutant mice show early-onset
hearing loss and balance problems. Multiple transcript variants encoding different isoforms have been found for
this gene. (provided by RefSeq, Nov 2011)

GeneCards Summary for MCOLN3 Gene:
MCOLN3 (mucolipin 3) is a protein-coding gene. Diseases associated with MCOLN3 include mucolipidosis, and intrahepatic cholangiocarcinoma. An important paralog of this gene is MCOLN2.

Gene Wiki entry for MCOLN3 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_032977.10  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the MCOLN3 gene promoter:
         RFX1   Sox5   Bach2   Pax-2   POU6F1 (c2)   Pax-2a   LCR-F1   AP-2gamma   Pax-2b   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for MCOLN3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MCOLN3


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

Entrez Gene cytogenetic band: 1p22.3   Ensembl cytogenetic band:  1p22.3   HGNC cytogenetic band: 1p22.3

MCOLN3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MCOLN3 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M085483:  view genomic region     (about GC identifiers)

Start:
85,483,765 bp from pter      End:
85,514,182 bp from pter
Size:
30,418 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, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: MCLN3_HUMAN, Q8TDD5 (See protein sequence)
Recommended Name: Mucolipin-3  
Size: 553 amino acids; 64248 Da
Secondary accessions: Q5T4H5 Q5T4H6 Q9NV09
Alternative splicing: 2 isoforms:  Q8TDD5-1   Q8TDD5-2   

Explore the universe of human proteins at neXtProt for MCOLN3: NX_Q8TDD5

Explore proteomics data for MCOLN3 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys536
  • Modification sites at PhosphoSitePlus

  • See MCOLN3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001240622.1  NP_060768.8  

    ENSEMBL proteins: 
     ENSP00000359621   ENSP00000342698   ENSP00000359619   ENSP00000474024  
    Reactome Protein details: Q8TDD5

    MCOLN3 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    OriGene Protein Over-expression Lysate for MCOLN3
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    Novus Biologicals MCOLN3 Lysate
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    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. Proteins for MCOLN3

    MCOLN3 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of MCOLN3
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    Search for Antibodies for MCOLN3 at Abcam
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    ThermoFisher Antibodies for MCOLN3
    LSBio Antibodies in human, mouse, rat for MCOLN3

    MCOLN3 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for MCOLN3
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for MCOLN3
    Cloud-Clone Corp. CLIAs for MCOLN3


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    TRP: Voltage-gated ion channels / Transient receptor potential cation channels

    IUPHAR Guide to PHARMACOLOGY protein family classification: TRPML3
    Transient Receptor Potential channels

    1 InterPro protein domain:
     IPR013122 PKD1_2_channel

    Graphical View of Domain Structure for InterPro Entry Q8TDD5

    ProtoNet protein and cluster: Q8TDD5

    UniProtKB/Swiss-Prot: MCLN3_HUMAN, Q8TDD5
    Similarity: Belongs to the transient receptor (TC 1.A.4) family. Polycystin subfamily. MCOLN3 sub-subfamily


    MCOLN3 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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    Phenotypes:
         10 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Mcoln3):
     behavior/neurological  growth/size/body  hearing/vestibular/ear  integument  limbs/digits/tail 
     mortality/aging  nervous system  no phenotypic analysis  pigmentation  reproductive system 

    MCOLN3 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for MCOLN3: Mcoln3tm1.1Jga Mcoln3tm1.2Hels

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MCOLN3
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MCOLN3
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MCOLN3

    miRNA
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    Block miRNA regulation of human, mouse, rat MCOLN3 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate MCOLN3 (see all 10):
    hsa-miR-137 hsa-miR-200a hsa-miR-3617 hsa-miR-373* hsa-miR-512-5p hsa-miR-141 hsa-miR-641 hsa-miR-616*
    SwitchGear 3'UTR luciferase reporter plasmidMCOLN3 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for MCOLN3
    Predesigned siRNA for gene silencing in human, mouse, rat MCOLN3

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for MCOLN3

    Clone
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    OriGene ORF clones in mouse, rat for MCOLN3
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    GenScript: all cDNA clones in your preferred vector: MCOLN3 (NM_018298)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MCOLN3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MCOLN3

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MCOLN3


    (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
    MCLN3_HUMAN, Q8TDD5: Membrane; Multi-pass membrane protein (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane3
    cytosol1
    endosome1
    nucleus1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--
    GO:0005886plasma membrane TAS--
    GO:0016021integral component of membrane IEA--

    MCOLN3 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 MCOLN3 About    
    See pathways by source

    SuperPathContained pathways About
    1Ion channel transport
    Ion channel transport0.58
    Stimuli-sensing channels0.58
    2Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds
    Transmembrane transport of small molecules0.47
    3TRP channels
    TRP channels

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for MCOLN3
        TRP channels



    MCOLN3 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for MCOLN3
    Interactions:

        Search GeneGlobe Interaction Network for MCOLN3

    Selected Interacting proteins for MCOLN3 (Q8TDD53) via UniProtKB, MINT, STRING, and/or I2D (see all 8)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000204490P013753I2D: score=1 
    ENSG00000206439P013753I2D: score=1 
    ENSG00000223952P013753I2D: score=1 
    ENSG00000228321P013753I2D: score=1 
    ENSG00000228849P013753I2D: score=1 
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006811ion transport ----
    GO:0007626locomotory behavior IEA--
    GO:0034220ion transmembrane transport TAS--
    GO:0042491auditory receptor cell differentiation IEA--
    GO:0055085transmembrane transport TAS--

    MCOLN3 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 MCOLN3 (MCLN3)

    1 IUPHAR Ligand for MCOLN3 (TRPML3)    About this table
    LigandTypeActionAffinityPubmed IDs
    Gd3+
    Channel blockerNone--



    (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 MCOLN3 gene (2 alternative transcripts): 
    NM_001253693.1  NM_018298.10  

    Unigene Cluster for MCOLN3:

    Mucolipin 3
    Hs.535239  [show with all ESTs]
    Unigene Representative Sequence: BC060765
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000370589 ENST00000474447(uc001dko.3) ENST00000341115 ENST00000370587(uc001dkr.3)
    ENST00000490600(uc001dks.4) ENST00000475312
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat MCOLN3 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate MCOLN3 (see all 10):
    hsa-miR-137 hsa-miR-200a hsa-miR-3617 hsa-miR-373* hsa-miR-512-5p hsa-miR-141 hsa-miR-641 hsa-miR-616*
    SwitchGear 3'UTR luciferase reporter plasmidMCOLN3 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for MCOLN3
    Predesigned siRNA for gene silencing in human, mouse, rat MCOLN3
    Clone
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    OriGene clones in human, mouse for MCOLN3 (see all 6)
    OriGene ORF clones in mouse, rat for MCOLN3
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: MCOLN3 (NM_018298)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MCOLN3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MCOLN3
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for MCOLN3
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MCOLN3
      QuantiTect SYBR Green Assays in human, mouse, rat MCOLN3
      QuantiFast Probe-based Assays in human, mouse, rat MCOLN3

    Additional mRNA sequence: 

    AF475085.1 AK001868.1 AK093948.1 AK095148.1 AK292206.1 AK314354.1 BC060765.1 BX647497.1 
    CR749858.1 

    6 DOTS entries:

    DT.97823593  DT.309807  DT.91749755  DT.100752033  DT.99935962  DT.100646501 

    Selected AceView cDNA sequences (see all 52):

    BU634119 BM127587 AI868460 C01230 CK906184 AI802103 AA724373 NM_018298 
    BE219997 BC060765 AF475085 BQ006750 AW271980 AA171718 AA843790 AK001868 
    AW665790 BF792564 AA171814 W38833 AW194465 CB159774 BX498031 BV203284 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for MCOLN3    About this scheme

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


    ECgene alternative splicing isoforms for MCOLN3

    (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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    MCOLN3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAATTAAAGC
    MCOLN3 Expression
    About this image


    MCOLN3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 8) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     NULL (Uncategorized)
             Vascular endothelial growth factor-induced cells
     
     Bone (Muscoskeletal System)
             Zeugopod Growth Plate
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Pancreas (Endocrine System)
             Islets of Langerhans
    MCOLN3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MCOLN3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.535239
        Custom PCR Arrays for MCOLN3
    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for MCOLN3
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    QuantiFast Probe-based Assays in human, mouse, rat MCOLN3
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MCOLN3

    (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 MCOLN3 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mcoln31 , 5 mucolipin 31, 5 84.87(n)1
    91.14(a)1
      3 (71.03 cM)5
    1711661  NM_134160.11  NP_598921.11 
     1461174595 
    chicken
    (Gallus gallus)
    Aves MCOLN31 mucolipin 3 76.23(n)
    81.85(a)
      429091  XM_004936643.1  XP_004936700.1 
    lizard
    (Anolis carolinensis)
    Reptilia MCOLN36
    mucolipin 3
    84(a)
    1 ↔ 1
    GL343194.1(10082522-10096746)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia AL898576.22   -- 77.3(n)    AL898576.2 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1000011131 mucolipin-3-like 62.24(n)
    61.42(a)
      100001113  XM_001341146.6  XP_001341182.5 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG87433
    trpml1
    calcium ion transport calcium channel3
    transient receptor potential mucolipin1
    41(a)3
    50.42(n)1
    44.03(a)1
      76C33
    401521  NM_140888.41  NP_649145.11 
    worm
    (Caenorhabditis elegans)
    Secernentea cup-51 , 3 Expression: coelomocytes3
    cup-51
    36(a)3
    48.74(n)1
    37.31(a)1
      III -0.6500003
    1760741  NM_066263.41  NP_498664.31 


    ENSEMBL Gene Tree for MCOLN3 (if available)
    TreeFam Gene Tree for MCOLN3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MCOLN3 gene
    MCOLN22  MCOLN12  
    2 SIMAP similar genes for MCOLN3 using alignment to 4 protein entries:     MCLN3_HUMAN (see all proteins):
    MCOLN2    MCOLN1

    MCOLN3 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 MCOLN3 (see all 623)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1840616351,2
    --85483277(+) TTTAAG/TCATAA 2 -- int10--------
    rs1465087481,2
    --85483432(+) GCTGCA/GACTAT 2 -- int10--------
    rs1896984011,2
    --85483442(+) TAGGCA/GTGTAC 2 -- int10--------
    rs1156308941,2
    C,F--85483499(+) TCACTA/GTGTTG 2 -- int11Minor allele frequency- G:0.06WA 118
    rs345342861,2
    C--85483560(+) TCCCAG/AAGTGA 2 -- int11Minor allele frequency- A:0.00NA 2
    rs677545701,2
    C--85483565(+) AGTGA-/CGGTAT 2 -- int10--------
    rs1467706481,2
    C--85483642(+) TAAAA-/CCACAG
    CCTCTCACC
    CCAAA
    2 -- int10--------
    rs773100921,2
    C,F--85483669(+) ACTTCG/ACTGTG 2 -- int11Minor allele frequency- A:0.04NA 120
    rs1408969691,2
    C--85483706(+) AGTACA/GTCACT 2 -- int10--------
    rs1923528391,2
    --85483724(+) ACAGGC/GTGCTC 2 -- int10--------

    HapMap Linkage Disequilibrium report for MCOLN3 (85483765 - 85514182 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for MCOLN3:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv830448CNV Loss17160897
    nsv470724CNV Gain18288195
    nsv462383CNV Gain19166990

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MCOLN3
    DNA2.0 Custom Variant and Variant Library Synthesis for MCOLN3

    (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: 607400    OMIM disorders: --

    4 diseases for MCOLN3:    
    About MalaCards
    mucolipidosis    intrahepatic cholangiocarcinoma    cholangiocarcinoma    malaria

    1 disease from the University of Copenhagen DISEASES database for MCOLN3:
    Mucolipidosis

    MCOLN3 for disorders           About GeneDecksing


    Export disorders for MCOLN3 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 MCOLN3 gene, integrated from 10 sources (see all 24):
    (articles sorted by number of sources associating them with MCOLN3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (Nature 2006)
    2. International Union of Pharmacology. XLIX. Nomenclature and structure-function relationships of transient receptor potential channels. (PubMed id 16382100)1, 3 Clapham D.E....Schultz G. (Pharmacol. Rev. 2005)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    4. The calcium channel mucolipin-3 is a novel regulator of trafficking along the endosomal pathway. (PubMed id 19497048)1, 9 Martina J.A....Puertollano R. (Traffic 2009)
    5. Functional multimerization of mucolipin channel proteins. (PubMed id 19885840)1, 9 Curcio-Morelli C....Slaugenhaupt S.A. (J. Cell. Physiol. 2010)
    6. A novel ion channel formed by interaction of TRPML3 with TRPV5. (PubMed id 23469151)1 Guo Z....Heller S. (PLoS ONE 2013)
    7. The protein interaction landscape of the human CMGC kinase group. (PubMed id 23602568)1 Varjosalo M....Gstaiger M. (Cell Rep 2013)
    8. Constitutive activity of TRPML2 and TRPML3 channels versus activation by low extracellular sodium and small molecules. (PubMed id 22753890)1 Grimm C....Heller S. (J. Biol. Chem. 2012)
    9. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)
    10. Heteromultimeric TRPML channel assemblies play a crucial role in the regulation of cell viability models and starvation-induced autophagy. (PubMed id 20736310)1 Zeevi D.A....Bach G. (J. Cell. Sci. 2010)

    (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: 55283 HGNC: 13358 AceView: MCOLN3 Ensembl:ENSG00000055732 euGenes: HUgn55283
    ECgene: MCOLN3 H-InvDB: MCOLN3

    (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 MCOLN3 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 MCOLN3 gene:
    Search GeneIP for patents involving MCOLN3

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



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