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MCOLN1 Gene

protein-coding   GIFtS: 64
GCID: GC19P007587

Mucolipin 1

  See MCOLN1-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 11 2     TRPM-L12
ML42 3 5     TRPML12
MG-22 3     mucolipidin2
MLIV2     Mucolipidosis Type IV Protein2
MST0802     mucolipin-12
TRP-ML12     Mucolipidin3

External Ids:    HGNC: 133561   Entrez Gene: 571922   Ensembl: ENSG000000906747   OMIM: 6052485   UniProtKB: Q9GZU13   

Export aliases for MCOLN1 gene to outside databases

Previous GC identifers: GC19P007545 GC19P007693 GC19P007482 GC19P007493 GC19P007258


(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 MCOLN1 Gene:
This gene encodes a memberof the transient receptor potential (TRP) cation channel gene family. The transmembrane
protein localizes to intracellular vesicular membranes including lysosomes, and functions in the late endocytic
pathway and in the regulation of lysosomal exocytosis. The channel is permeable to Ca(2+), Fe(2+), Na(+), K(+),
and H(+), and is modulated by changes in Ca(2+) concentration. Mutations in this gene result in mucolipidosis
type IV. (provided by RefSeq, Oct 2009)

GeneCards Summary for MCOLN1 Gene:
MCOLN1 (mucolipin 1) is a protein-coding gene. Diseases associated with MCOLN1 include mucolipidosis iv, and mucolipidosis. GO annotations related to this gene include cation channel activity. An important paralog of this gene is MCOLN2.

UniProtKB/Swiss-Prot: MCLN1_HUMAN, Q9GZU1
Function: Cation channel probably playing a role in the endocytic pathway and in the control of membrane
trafficking of proteins and lipids. Could play a major role in Ca(2+) transport regulating lysosomal exocytosis

Gene Wiki entry for MCOLN1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000019.9  NC_018930.2  NT_011295.12  
Regulatory elements:
   Regulatory transcription factor binding sites in the MCOLN1 gene promoter:
         Nkx3-1   AhR   AP-1   ATF-2   Nkx3-1 v1   Arnt   c-Ets-1   Nkx3-1 v2   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMCOLN1 promoter sequence
   Search Chromatin IP Primers for MCOLN1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MCOLN1


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

Entrez Gene cytogenetic band: 19p13.2   Ensembl cytogenetic band:  19p13.2   HGNC cytogenetic band: 19p13.2

MCOLN1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MCOLN1 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P007587:  view genomic region     (about GC identifiers)

Start:
7,587,496 bp from pter      End:
7,598,895 bp from pter
Size:
11,400 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, 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: MCLN1_HUMAN, Q9GZU1 (See protein sequence)
Recommended Name: Mucolipin-1  
Size: 580 amino acids; 65022 Da
Subunit: Forms multimeric complexes. Interacts with PDCD6
Sequence caution: Sequence=AAQ13604.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=CAC07813.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact; Sequence=EAW69031.1;
Type=Erroneous gene model prediction; Sequence=EAW69034.1; Type=Erroneous gene model prediction;
Secondary accessions: D6W647 Q7Z4F7 Q9H292 Q9H4B3 Q9H4B5

Explore the universe of human proteins at neXtProt for MCOLN1: NX_Q9GZU1

Explore proteomics data for MCOLN1 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn159, Asn179, Asn230
  • Modification sites at PhosphoSitePlus

  • See MCOLN1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_065394.1  
    ENSEMBL proteins: 
     ENSP00000264079   ENSP00000469074   ENSP00000472176  
    Reactome Protein details: Q9GZU1

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

    IUPHAR Guide to PHARMACOLOGY protein family classification: TRPML1
    Transient Receptor Potential channels

    1 InterPro protein domain:
     IPR013122 PKD1_2_channel

    Graphical View of Domain Structure for InterPro Entry Q9GZU1

    ProtoNet protein and cluster: Q9GZU1

    UniProtKB/Swiss-Prot: MCLN1_HUMAN, Q9GZU1
    Similarity: Belongs to the transient receptor (TC 1.A.4) family. Polycystin subfamily. MCOLN1 sub-subfamily


    Find genes that share domains with MCOLN1           About GenesLikeMe


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MCLN1_HUMAN, Q9GZU1
    Function: Cation channel probably playing a role in the endocytic pathway and in the control of membrane
    trafficking of proteins and lipids. Could play a major role in Ca(2+) transport regulating lysosomal exocytosis
    Enzyme regulation: Channel function is transiently modulated by changes in Ca(2+), and inhibited by a reduction of
    pH; pH changes modify the aggregation state of unitary channels

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005261cation channel activity NAS11030752
    GO:0072345NAADP-sensitive calcium-release channel activity IEA--
         
    Find genes that share ontologies with MCOLN1           About GenesLikeMe


    Phenotypes:
         14 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Mcoln1):
     adipose tissue  behavior/neurological  cardiovascular system  digestive/alimentary  growth/size/body 
     hematopoietic system  homeostasis/metabolism  immune system  integument  mortality/aging 
     muscle  nervous system  renal/urinary system  vision/eye 

    Find genes that share phenotypes with MCOLN1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for MCOLN1: Mcoln1tm1Asoy Mcoln1tm1Sasl

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MCOLN1
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    MCLN1_HUMAN, Q9GZU1: Cell membrane; Multi-pass membrane protein. Late endosome membrane; Multi-pass membrane
    protein. Lysosome membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endosome5
    lysosome5
    plasma membrane5
    vacuole5
    cytosol3

    Gene Ontology (GO): Selected cellular component terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA--
    GO:0005765lysosomal membrane IDA17897319
    GO:0005886plasma membrane TAS--
    GO:0005887integral component of plasma membrane NAS11013137
    GO:0010008endosome membrane TAS--

    Find genes that share ontologies with MCOLN1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for MCOLN1 About   (see all 8)  
    See pathways by source

    SuperPathContained pathways About
    1Insulin receptor recycling
    Transferrin endocytosis and recycling0.74
    Iron uptake and transport0.70
    2Ion channel transport
    Ion channel transport0.58
    Stimuli-sensing channels0.58
    3Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds
    Transmembrane transport of small molecules0.47
    4TRP channels
    TRP channels
    5Sodium channels and transporters inward current
    Sodium channels and transporters inward current


    Find genes that share SuperPaths with MCOLN1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for MCOLN1
        Iron metabolism in placenta

    2 Reactome Pathways for MCOLN1
        TRP channels
    Transferrin endocytosis and recycling


    1 Kegg Pathway  (Kegg details for MCOLN1):
        Lysosome

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for MCOLN1
    Interactions:

        Search GeneGlobe Interaction Network for MCOLN1

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    Selected Interacting proteins for MCOLN1 (Q9GZU12, 3 ENSP000002640794) via UniProtKB, MINT, STRING, and/or I2D (see all 10)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000215641P143732, 3MINT-65431 I2D: score=5 
    ENSG00000229006P143732, 3MINT-65431 I2D: score=5 
    ENSG00000234495P143732, 3MINT-65431 I2D: score=5 
    ENSG00000237071P143732, 3MINT-65431 I2D: score=5 
    TRIM27P143732, 3MINT-65431 I2D: score=5 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006812cation transport NAS11030752
    GO:0006816calcium ion transport ----
    GO:0006879cellular iron ion homeostasis TAS--
    GO:0033572transferrin transport TAS--
    GO:0034220ion transmembrane transport TAS--

    Find genes that share ontologies with MCOLN1           About GenesLikeMe



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

    Browse Tocris compounds for MCOLN1 (MCLN1)

    3 Novoseek inferred chemical compound relationships for MCOLN1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    chloroquine 34.4 4 10411915 (2), 19247216 (1)
    lipid 10.1 8 18504305 (3), 16361256 (2), 19885840 (1), 16257972 (1) (see all 5)
    calcium 0 2 15070744 (1), 16133264 (1)



    Find genes that share compounds with MCOLN1           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for MCOLN1 gene: 
    NM_020533.2  

    Unigene Cluster for MCOLN1:

    Mucolipin 1
    Hs.631858  [show with all ESTs]
    Unigene Representative Sequence: NM_020533
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000264079(uc010dvh.2 uc002mgo.3) ENST00000596390 ENST00000394321(uc002mgp.3)
    ENST00000601003 ENST00000596008 ENST00000598406 ENST00000595860 ENST00000599334
    ENST00000594692 ENST00000602227
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      QuantiFast Probe-based Assays in human, mouse, rat MCOLN1

    Additional mRNA sequence: 

    AF171088.1 AF249319.1 AF287269.1 AJ293970.1 AK026102.1 AK222673.1 AK294330.1 AK310109.1 
    AK310175.1 BC005149.2 

    15 DOTS entries:

    DT.447577  DT.95302575  DT.121456062  DT.97843550  DT.100669889  DT.100817129  DT.92423897  DT.100027296 
    DT.100771803  DT.121456035  DT.91664778  DT.92411457  DT.95257059  DT.100785643  DT.95180383 

    Selected AceView cDNA sequences (see all 317):

    BQ684516 BU845789 BF434923 CB269801 AA160594 AF249319 CR603716 BC051768 
    BU542803 AA311733 AA603115 BF529860 BU617407 R89699 CB117063 BI053600 
    CA455024 AI335011 BI092192 CB306538 AI868385 AI299326 CA391526 CD368184 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for MCOLN1 (see all 9)    About this scheme

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

    ExUns: 15a · 15b
    SP1:            
    SP2:            
    SP3:            
    SP4:            
    SP5:            


    ECgene alternative splicing isoforms for MCOLN1

    (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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    MCOLN1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTGCTCAGCC
    MCOLN1 Expression
    About this image


    MCOLN1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Ovary (Reproductive System)
             Oviduct
     
     Pancreas (Endocrine System)
             Islets of Langerhans
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
    MCOLN1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MCOLN1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.631858

    UniProtKB/Swiss-Prot: MCLN1_HUMAN, Q9GZU1
    Tissue specificity: Widely expressed in adult and fetal tissues

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    (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 MCOLN1 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mcoln11 , 5 mucolipin 11, 5 86.26(n)1
    91.38(a)1
      8 (1.92 cM)5
    941781  NM_053177.11  NP_444407.11 
     35004575 
    chicken
    (Gallus gallus)
    Aves MCOLN11 mucolipin 1 75.58(n)
    72.02(a)
      426164  XM_423829.4  XP_423829.4 
    lizard
    (Anolis carolinensis)
    Reptilia MCOLN16
    mucolipin 1
    66(a)
    1 ↔ 1
    2(79978850-80000064)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.125332 Xenopus laevis transcribed sequence with moderate similarity more 79.82(n)    BJ029029.1 
    zebrafish
    (Danio rerio)
    Actinopterygii mcoln1b1 mucolipin 1b 65.2(n)
    61.61(a)
      795916  XM_001336163.2  XP_001336199.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG87433 calcium ion transport calcium channel 38(a)   76C3   --
    worm
    (Caenorhabditis elegans)
    Secernentea cup-53 Expression: coelomocytes 34(a)   III -0.650000   --


    ENSEMBL Gene Tree for MCOLN1 (if available)
    TreeFam Gene Tree for MCOLN1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MCOLN1 gene
    MCOLN22  MCOLN32  
    2 SIMAP similar genes for MCOLN1 using alignment to 3 protein entries:     MCLN1_HUMAN (see all proteins):
    MCOLN3    MCOLN2

    Find genes that share paralogs with MCOLN1           About GenesLikeMe



    (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 MCOLN1 (see all 363)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0193744
    Mucolipidosis type IV (MLIV)4--see VAR_0193742 L P mis40--------
    VAR_0193754
    Mucolipidosis type IV (MLIV)4--see VAR_0193752 F L mis40--------
    VAR_0364534
    A breast cancer sample4--see VAR_0364532 V L mis40--------
    VAR_0193734
    Mucolipidosis type IV (MLIV)4--see VAR_0193732 V L mis40--------
    VAR_0383804
    Mucolipidosis type IV (MLIV)4--see VAR_0383802 R C mis40--------
    VAR_0193714
    Mucolipidosis type IV (MLIV)4--see VAR_0193712 D Y mis40--------
    VAR_0193704
    Mucolipidosis type IV (MLIV)4--see VAR_0193702 T P mis40--------
    VAR_0193694
    Mucolipidosis type IV (MLIV)4--see VAR_0193692 L P mis40--------
    rs1048864611,2
    C,Fpathogenic17530885(+) CCCACA/GGTACC 1 -- spa11Minor allele frequency- G:0.00EU 1273
    rs3704111531,2
    C--7524776(+) GCCGGA/GCACTC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for MCOLN1 (7587496 - 7598895 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for MCOLN1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv910963CNV Loss21882294
    dgv3710n71CNV Loss21882294
    nsv910962CNV Loss21882294
    nsv910957CNV Loss21882294
    nsv833730CNV Loss17160897
    dgv3711n71CNV Loss21882294
    dgv3712n71CNV Loss21882294
    esv2751809CNV Gain17911159

    Human Gene Mutation Database (HGMD): MCOLN1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MCOLN1
    DNA2.0 Custom Variant and Variant Library Synthesis for MCOLN1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 605248   
    OMIM disorders: 252650  
    UniProtKB/Swiss-Prot: MCLN1_HUMAN, Q9GZU1
  • Mucolipidosis type IV (MLIV) [MIM:252650]: Autosomal recessive lysosomal storage disorder characterized
    by severe psychomotor retardation and ophthalmologic abnormalities, including corneal opacity, retinal
    degeneration and strabismus. Storage bodies of lipids and water-soluble substances are seen by electron
    microscopy in almost every cell type of the patients. Most patients are unable to speak or walk independently and
    reach a maximal developmental level of 1-2 years. All patients have constitutive achlorhydia associated with a
    secondary elevation of serum gastrin levels. MLIV may be due to a defect in sorting and/or transport along the
    late endocytic pathway. MLIV is found at relatively high frequency among Ashkenazi Jews. Note=The disease is
    caused by mutations affecting the gene represented in this entry

  • 3 diseases for MCOLN1:    
    About MalaCards
    mucolipidosis iv    mucolipidosis    strabismus

    1 disease from the University of Copenhagen DISEASES database for MCOLN1:
    Mucolipidosis

    Find genes that share disorders with MCOLN1           About GenesLikeMe

    8 Novoseek inferred disease relationships for MCOLN1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    type iv mucolipidosis 99.5 74 18258208 (2), 12459486 (2), 11013137 (2), 11317355 (2) (see all 47)
    lysosomal storage diseases 82.7 14 15070744 (1), 10352940 (1), 19041749 (1), 17988215 (1) (see all 7)
    achlorhydria 81 3 15070744 (1), 18326692 (1), 17924347 (1)
    retinal degeneration 63.2 3 11461186 (1), 11013137 (1), 10973263 (1)
    strabismus 47.4 3 11461186 (1), 11013137 (1), 10973263 (1)
    visual impairment 46.2 3 15570434 (1), 18258208 (1), 10411915 (1)
    neurodegenerative diseases 41.1 6 17989217 (1), 19041749 (1), 19638346 (1), 11030752 (1)
    congenital malformation 11.1 2 14749347 (1), 16133264 (1)

    GeneTests: MCOLN1
    GeneReviews: MCOLN1
    Genetic Association Database (GAD): MCOLN1
    Human Genome Epidemiology (HuGE) Navigator: MCOLN1 (5 documents)

    Export disorders for MCOLN1 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 MCOLN1 gene, integrated from 10 sources (see all 93):
    (articles sorted by number of sources associating them with MCOLN1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mucolipidosis type IV: novel MCOLN1 mutations in Jewish and non- Jewish patients and the frequency of the disease in the Ashkenazi Jewish population. (PubMed id 11317355)1, 2, 4, 9 Bargal R.... Bach G. (Hum. Mutat. 2001)
    2. Identification of the penta-EF-hand protein ALG-2 as a Ca2+-dependent interactor of mucolipin-1. (PubMed id 19864416)1, 2, 9 Vergarajauregui S....Puertollano R. (J. Biol. Chem. 2009)
    3. Cloning of the gene encoding a novel integral membrane protein, mucolipidin, and identification of the two major founder mutations causing mucolipidosis type IV. (PubMed id 11013137)1, 2, 9 Bassi M.T.... Borsani G. (Am. J. Hum. Genet. 2000)
    4. Identification of the gene causing mucolipidosis type IV. (PubMed id 10973263)1, 2, 9 Bargal R.... Bach G. (Nat. Genet. 2000)
    5. Molecular pathophysiology of mucolipidosis type IV: pH dysregulation of the mucolipin-1 cation channel. (PubMed id 14749347)1, 2, 9 Raychowdhury M.K.... Cantiello H.F. (Hum. Mol. Genet. 2004)
    6. The neurogenetics of mucolipidosis type IV. (PubMed id 12182165)1, 2, 9 Altarescu G.... Schiffmann R. (Neurology 2002)
    7. Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channel. (PubMed id 11030752)1, 2, 9 Sun M.... Slaugenhaupt S.A. (Hum. Mol. Genet. 2000)
    8. Identification and characterization of the single channel function of human mucolipin-1 implicated in mucolipidosis type IV, a disorder affecting the lysosomal pathway. (PubMed id 12459486)1, 2, 9 LaPlante J.M.... Vassilev P.M. (FEBS Lett. 2002)
    9. The frequency of mucolipidosis type IV in the Ashkenazi Jewish population and the identification of 3 novel MCOLN1 mutations. (PubMed id 16287144)1, 4, 9 Bach G....Ekstein J. (Hum. Mutat. 2005)
    10. Overexpression of wild-type and mutant mucolipin proteins in mammalian cells: effects on the late endocytic compartment organization. (PubMed id 15178326)1, 2, 9 Manzoni M.... Borsani G. (FEBS Lett. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 57192 HGNC: 13356 AceView: NTEandMCOLN1 Ensembl:ENSG00000090674 euGenes: HUgn57192
    ECgene: MCOLN1 Kegg: 57192 H-InvDB: MCOLN1

    (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 MCOLN1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=MCOLN1[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 MCOLN1 gene:
    Search GeneIP for patents involving MCOLN1

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



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