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    Clcc1 chloride channel CLIC-like 1 [ Mus musculus (house mouse) ]

    Gene ID: 229725, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Clcc1provided by MGI
    Official Full Name
    chloride channel CLIC-like 1provided by MGI
    Primary source
    MGI:MGI:2385186
    See related
    Ensembl:ENSMUSG00000027884 AllianceGenome:MGI:2385186
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Mclc; ERAC1
    Summary
    Enables chloride channel activity and identical protein binding activity. Involved in endoplasmic reticulum calcium ion homeostasis. Located in endoplasmic reticulum membrane. Is expressed in several structures, including alimentary system; brain; cardiovascular system; genitourinary system; and integumental system. Human ortholog(s) of this gene implicated in retinitis pigmentosa 32. Orthologous to human CLCC1 (chloride channel CLIC like 1). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in bladder adult (RPKM 9.9), limb E14.5 (RPKM 9.7) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Clcc1 in Genome Data Viewer
    Location:
    3 F3; 3 47.49 cM
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 3 NC_000069.7 (108561194..108586156)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 3 NC_000069.6 (108653878..108678840)

    Chromosome 3 - NC_000069.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E1629 Neighboring gene STARR-positive B cell enhancer ABC_E6105 Neighboring gene TATA-box binding protein associated factor 13 Neighboring gene WD repeat domain 47 Neighboring gene 40S ribosomal protein S23 pseudogene Neighboring gene G-protein signalling modulator 2 (AGS3-like, C. elegans) Neighboring gene STARR-positive B cell enhancer ABC_E4575 Neighboring gene AKNA domain containing 1 Neighboring gene syntaxin binding protein 3 Neighboring gene STARR-positive B cell enhancer mm9_chr3:108642483-108642783 Neighboring gene STARR-positive B cell enhancer mm9_chr3:108643371-108643672

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Loss of Clcc1 results in ER stress, misfolded protein accumulation, and neurodegeneration. Jia Y, et al. J Neurosci, 2015 Feb 18. PMID 25698737, Free PMC Article
    2. Altered tongue muscle contractile properties coincide with altered swallow function in the adult Ts65Dn mouse model of down syndrome. Glass TJ, et al. Front Neurol, 2024. PMID 38585362, Free PMC Article
    3. The Borrelia burgdorferi VlsE Lipoprotein Prevents Antibody Binding to an Arthritis-Related Surface Antigen. Lone AG, et al. Cell Rep, 2020 Mar 17. PMID 32187539, Free PMC Article
    4. Disruption of ER ion homeostasis maintained by an ER anion channel CLCC1 contributes to ALS-like pathologies. Guo L, et al. Cell Res, 2023 Jul. PMID 37142673, Free PMC Article
    5. Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa. Li L, et al. PLoS Genet, 2018 Aug. PMID 30157172, Free PMC Article

    See all (24) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Disruption of ER ion homeostasis maintained by an ER anion channel CLCC1 contributes to ALS-like pathologies.
      Title: Disruption of ER ion homeostasis maintained by an ER anion channel CLCC1 contributes to ALS-like pathologies.
    2. Clcc1+/- KO mice showed decreased electroretinogram and photoreceptor number. Intracellular chloride transport by CLCC1 is a critical process in maintaining retinal integrity, and CLCC1 is crucial for survival and function of retinal cells.
      Title: Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa.
    3. This study demonistrated that Loss of Clcc1 results in ER stress, misfolded protein accumulation, and neurodegeneration.
      Title: Loss of Clcc1 results in ER stress, misfolded protein accumulation, and neurodegeneration.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables chloride channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables chloride channel activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables chloride channel activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables identical protein binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in chloride transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in chloride transport ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in endoplasmic reticulum calcium ion homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in Golgi apparatus ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of chloride channel complex IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in endoplasmic reticulum membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in intracellular membrane-bounded organelle ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in mitochondria-associated endoplasmic reticulum membrane contact site ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in mitochondria-associated endoplasmic reticulum membrane contact site ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    chloride channel CLIC-like protein 1
    Names
    ER anion channel 1
    Mid-1-related chloride channel 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_001177770.2 → NP_001171241.1  chloride channel CLIC-like protein 1 isoform 1 precursor

      See identical proteins and their annotated locations for NP_001171241.1

      Status: VALIDATED

      Source sequence(s)
      AL671917, AL683823
      Consensus CDS
      CCDS51047.1
      UniProtKB/TrEMBL
      A2AEM2
      Related
      ENSMUSP00000102224.2, ENSMUST00000106613.2
      Conserved Domains (1) summary
      pfam05934
      Location:19 → 544
      MCLC; Mid-1-related chloride channel (MCLC)

    2. NM_001177771.2 → NP_001171242.1  chloride channel CLIC-like protein 1 isoform 2 precursor

      See identical proteins and their annotated locations for NP_001171242.1

      Status: VALIDATED

      Source sequence(s)
      AL671917, AL683823, CF723950
      Consensus CDS
      CCDS17766.1
      UniProtKB/Swiss-Prot
      A2AEK9, Q99LI2
      Related
      ENSMUSP00000029483.9, ENSMUST00000029483.15
      Conserved Domains (1) summary
      pfam05934
      Location:14 → 539
      MCLC; Mid-1-related chloride channel (MCLC)

    3. NM_001355632.1 → NP_001342561.1  chloride channel CLIC-like protein 1 isoform 2 precursor

      Status: VALIDATED

      Source sequence(s)
      AL671917, AL683823
      Consensus CDS
      CCDS17766.1
      UniProtKB/Swiss-Prot
      A2AEK9, Q99LI2
      Conserved Domains (1) summary
      pfam05934
      Location:14 → 539
      MCLC; Mid-1-related chloride channel (MCLC)

    4. NM_145543.2 → NP_663518.1  chloride channel CLIC-like protein 1 isoform 2 precursor

      See identical proteins and their annotated locations for NP_663518.1

      Status: VALIDATED

      Source sequence(s)
      AL671917, BB848444, CF723950
      Consensus CDS
      CCDS17766.1
      UniProtKB/Swiss-Prot
      A2AEK9, Q99LI2
      Related
      ENSMUSP00000102220.2, ENSMUST00000106609.8
      Conserved Domains (1) summary
      pfam05934
      Location:14 → 539
      MCLC; Mid-1-related chloride channel (MCLC)

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000069.7 Reference GRCm39 C57BL/6J

      Range
      108561194..108586156
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_030252596.2 → XP_030108456.1  chloride channel CLIC-like protein 1 isoform X2

      UniProtKB/Swiss-Prot
      A2AEK9, Q99LI2
      Conserved Domains (1) summary
      pfam05934
      Location:14 → 539
      MCLC; Mid-1-related chloride channel (MCLC)

    2. XM_036163077.1 → XP_036018970.1  chloride channel CLIC-like protein 1 isoform X1

      UniProtKB/TrEMBL
      A2AEM2
      Conserved Domains (1) summary
      pfam05934
      Location:19 → 544
      MCLC; Mid-1-related chloride channel (MCLC)

    RNA

    1. XR_001783688.1 RNA Sequence

    2. XR_004941315.1 RNA Sequence

    3. XR_001783687.3 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q99LI2.1 GenPept UniProtKB/Swiss-Prot:Q99LI2

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Other Literature Sources
    Chemical Information
    Molecular Biology Databases
    Research Materials
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