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    Mcoln1 mucolipin TRP cation channel 1 [ Rattus norvegicus (Norway rat) ]

    Gene ID: 288371, updated on 2-Nov-2024

    Summary

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    Official Symbol
    Mcoln1provided by RGD
    Official Full Name
    mucolipin TRP cation channel 1provided by RGD
    Primary source
    RGD:1308953
    See related
    EnsemblRapid:ENSRNOG00000000975 AllianceGenome:RGD:1308953
    Gene type
    protein coding
    RefSeq status
    PROVISIONAL
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Summary
    Enables NAADP-sensitive calcium-release channel activity. Involved in release of sequestered calcium ion into cytosol. Located in lysosomal membrane. Human ortholog(s) of this gene implicated in Lisch epithelial corneal dystrophy; glycoproteinosis; and mucolipidosis type IV. Orthologous to human MCOLN1 (mucolipin TRP cation channel 1). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in Kidney (RPKM 197.5), Brain (RPKM 83.1) and 9 other tissues See more
    Orthologs
    human mouse all
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    Genomic context

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    See Mcoln1 in Genome Data Viewer
    Location:
    12p12
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 12 NC_086030.1 (6357851..6372151)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 12 NC_051347.1 (1560341..1574252)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 12 NC_005111.4 (2054629..2068682)

    Chromosome 12 - NC_086030.1Genomic Context describing neighboring genes Neighboring gene peroxisomal biogenesis factor 11 gamma Neighboring gene stabilizer of axonemal microtubules 5 Neighboring gene zinc finger protein 358 Neighboring gene uncharacterized LOC120095868 Neighboring gene patatin-like phospholipase domain containing 6 Neighboring gene calmodulin regulated spectrin-associated protein family, member 3

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
    • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
    • BioProject: PRJNA238328
    • Publication: PMID 24510058
    • Analysis date: Mon Jun 6 17:44:12 2016

    Bibliography

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    Related articles in PubMed

    1. Transient Receptor Potential Mucolipin-1 Participates in Intracerebral Hemorrhage-Induced Secondary Brain Injury by Inducing Neuroinflammation and Neuronal Cell Death. Shi J, et al. Neuromolecular Med, 2023 Jun. PMID 36737508
    2. Reconstitution and characterization of a nicotinic acid adenine dinucleotide phosphate (NAADP)-sensitive Ca2+ release channel from liver lysosomes of rats. Zhang F, et al. J Biol Chem, 2007 Aug 31. PMID 17613490
    3. The inhibition of TRPML1/TFEB leads to lysosomal biogenesis disorder, contributes to developmental fluoride neurotoxicity. Zhang J, et al. Ecotoxicol Environ Saf, 2023 Jan 15. PMID 36608573
    4. Lysosomal calcium is modulated by STIM1/TRPML1 interaction which participates to neuronal survival during ischemic preconditioning. Tedeschi V, et al. FASEB J, 2021 Feb. PMID 33484198
    5. Human TRPML1 channel structures in open and closed conformations. Schmiege P, et al. Nature, 2017 Oct 19. PMID 29019983, Free PMC Article

    See all (15) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Transient Receptor Potential Mucolipin-1 Participates in Intracerebral Hemorrhage-Induced Secondary Brain Injury by Inducing Neuroinflammation and Neuronal Cell Death.
      Title: Transient Receptor Potential Mucolipin-1 Participates in Intracerebral Hemorrhage-Induced Secondary Brain Injury by Inducing Neuroinflammation and Neuronal Cell Death.
    2. The inhibition of TRPML1/TFEB leads to lysosomal biogenesis disorder, contributes to developmental fluoride neurotoxicity.
      Title: The inhibition of TRPML1/TFEB leads to lysosomal biogenesis disorder, contributes to developmental fluoride neurotoxicity.
    3. Lysosomal calcium is modulated by STIM1/TRPML1 interaction which participates to neuronal survival during ischemic preconditioning.
      Title: Lysosomal calcium is modulated by STIM1/TRPML1 interaction which participates to neuronal survival during ischemic preconditioning.
    Submit: New GeneRIF Correction

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by RGD

    Function Evidence Code Pubs
    enables NAADP-sensitive calcium-release channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables NAADP-sensitive calcium-release channel activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables calcium channel activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables identical protein binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables intracellularly phosphatidylinositol-3,5-bisphosphate-gated monatomic cation channel activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables iron ion transmembrane transporter activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables ligand-gated calcium channel activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables monoatomic anion channel activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables potassium channel activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables sodium channel activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within autophagosome maturation ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in calcium ion export ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in calcium ion transmembrane transport ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in calcium-mediated signaling IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cellular response to calcium ion ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in cellular response to pH ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in iron ion transmembrane transport ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in monoatomic anion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in monoatomic cation transmembrane transport ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in phagosome maturation ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of lysosome organization ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in potassium ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein homotetramerization ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in release of sequestered calcium ion into cytosol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in sodium ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in Golgi apparatus IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in Golgi apparatus ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in endosome membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in intracellular membrane-bounded organelle ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in intracellular vesicle ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in late endosome ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in lysosomal membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in lysosomal membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in lysosomal membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in lysosome ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of receptor complex ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    mucolipin-1
    Names
    mucolipin 1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001105903.1 → NP_001099373.1  mucolipin-1

      See identical proteins and their annotated locations for NP_001099373.1

      Status: PROVISIONAL

      Source sequence(s)
      CH474084
      UniProtKB/TrEMBL
      A0A8I6AQ69, A6KQ06
      Related
      ENSRNOP00000096156.2, ENSRNOT00000095810.2
      Conserved Domains (1) summary
      pfam08016
      Location:388 → 524
      PKD_channel; Polycystin cation channel

    RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCr8

    Genomic

    1. NC_086030.1 Reference GRCr8

      Range
      6357851..6372151
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_063271109.1 → XP_063127179.1  mucolipin-1 isoform X8

    2. XM_063271108.1 → XP_063127178.1  mucolipin-1 isoform X5

    3. XM_039089143.2 → XP_038945071.1  mucolipin-1 isoform X4

      UniProtKB/TrEMBL
      A0A8I6AQ69, A0A8I6G3L4
      Conserved Domains (2) summary
      PLN03223
      Location:388 → 496
      PLN03223; Polycystin cation channel protein; Provisional
      cl41763
      Location:127 → 274
      ELD_TRPML; extracytosolic/lumenal domain (ELD) found in transient receptor potential channel mucolipins (TRPMLs)

    4. XM_006248754.5 → XP_006248816.1  mucolipin-1 isoform X1

      UniProtKB/TrEMBL
      A0A8I6AQ69, A0A8I6G3L4
      Conserved Domains (1) summary
      PLN03223
      Location:457 → 565
      PLN03223; Polycystin cation channel protein; Provisional

    5. XM_006248755.5 → XP_006248817.1  mucolipin-1 isoform X2

      UniProtKB/TrEMBL
      A0A8I6AQ69, D3ZRF9
      Related
      ENSRNOP00000001290.5, ENSRNOT00000001290.7
      Conserved Domains (1) summary
      PLN03223
      Location:442 → 550
      PLN03223; Polycystin cation channel protein; Provisional

    6. XM_006248756.5 → XP_006248818.1  mucolipin-1 isoform X3

      UniProtKB/TrEMBL
      A0A8I6AQ69, A0A8I6G3L4
      Conserved Domains (1) summary
      pfam08016
      Location:403 → 539
      PKD_channel; Polycystin cation channel

    7. XM_039089145.2 → XP_038945073.1  mucolipin-1 isoform X7

      Conserved Domains (2) summary
      PLN03223
      Location:148 → 256
      PLN03223; Polycystin cation channel protein; Provisional
      cl41763
      Location:3 → 34
      ELD_TRPML; extracytosolic/lumenal domain (ELD) found in transient receptor potential channel mucolipins (TRPMLs)

    8. XM_039089144.2 → XP_038945072.1  mucolipin-1 isoform X6

      Conserved Domains (2) summary
      PLN03223
      Location:217 → 325
      PLN03223; Polycystin cation channel protein; Provisional
      cl41763
      Location:3 → 67
      ELD_TRPML; extracytosolic/lumenal domain (ELD) found in transient receptor potential channel mucolipins (TRPMLs)

    RNA

    1. XR_010056365.1 RNA Sequence

    2. XR_005491602.2 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version

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