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

Gene ID: 229725, updated on 2-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 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.

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