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    Tmem63a transmembrane protein 63a [ Mus musculus (house mouse) ]

    Gene ID: 208795, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Tmem63aprovided by MGI
    Official Full Name
    transmembrane protein 63aprovided by MGI
    Primary source
    MGI:MGI:2384789
    See related
    Ensembl:ENSMUSG00000026519 AllianceGenome:MGI:2384789
    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
    Tmem64a
    Summary
    Enables mechanosensitive monoatomic ion channel activity and osmolarity-sensing monoatomic cation channel activity. Involved in surfactant secretion. Located in plasma membrane. Human ortholog(s) of this gene implicated in hypomyelinating leukodystrophy 19. Orthologous to human TMEM63A (transmembrane protein 63A). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in colon adult (RPKM 42.4), stomach adult (RPKM 40.0) and 23 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Tmem63a in Genome Data Viewer
    Location:
    1 H4; 1 84.46 cM
    Exon count:
    26
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 1 NC_000067.7 (180769899..180802671)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 1 NC_000067.6 (180942286..180975106)

    Chromosome 1 - NC_000067.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 32199 Neighboring gene STARR-positive B cell enhancer ABC_E10069 Neighboring gene STARR-seq mESC enhancer starr_03222 Neighboring gene predicted gene, 39715 Neighboring gene left right determination factor 1 Neighboring gene STARR-seq mESC enhancer starr_03223 Neighboring gene epoxide hydrolase 1, microsomal Neighboring gene STARR-seq mESC enhancer starr_03226 Neighboring gene STARR-positive B cell enhancer ABC_E3344 Neighboring gene STARR-seq mESC enhancer starr_03227 Neighboring gene STARR-seq mESC enhancer starr_03228 Neighboring gene delta 4-desaturase, sphingolipid 1 like Neighboring gene predicted gene, 39716

    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. Mechanosensitive Ion Channel TMEM63A Gangs Up with Local Macrophages to Modulate Chronic Post-amputation Pain. Pu S, et al. Neurosci Bull, 2023 Feb. PMID 35821338, Free PMC Article
    2. Drosophila TMEM63 and mouse TMEM63A are lysosomal mechanosensory ion channels. Li K, et al. Nat Cell Biol, 2024 Mar. PMID 38388853, Free PMC Article
    3. Mechanosensitive channels TMEM63A and TMEM63B mediate lung inflation-induced surfactant secretion. Chen GL, et al. J Clin Invest, 2024 Dec 21. PMID 38127458, Free PMC Article
    4. TMEM63 proteins function as monomeric high-threshold mechanosensitive ion channels. Zheng W, et al. Neuron, 2023 Oct 18. PMID 37543036, Free PMC Article
    5. Co-expression of mouse TMEM63A, TMEM63B and TMEM63C confers hyperosmolarity activated ion currents in HEK293 cells. Zhao X, et al. Cell Biochem Funct, 2016 Jun. PMID 27045885

    See all (25) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Drosophila TMEM63 and mouse TMEM63A are lysosomal mechanosensory ion channels.
      Title: Drosophila TMEM63 and mouse TMEM63A are lysosomal mechanosensory ion channels.
    2. Mechanosensitive channels TMEM63A and TMEM63B mediate lung inflation-induced surfactant secretion.
      Title: Mechanosensitive channels TMEM63A and TMEM63B mediate lung inflation-induced surfactant secretion.
    3. Mechanosensitive Ion Channel TMEM63A Gangs Up with Local Macrophages to Modulate Chronic Post-amputation Pain.
      Title: Mechanosensitive Ion Channel TMEM63A Gangs Up with Local Macrophages to Modulate Chronic Post-amputation Pain.
    4. TMEM63 proteins may serve as an osmolarity sensitive ion channel for the osmoreception.
      Title: Co-expression of mouse TMEM63A, TMEM63B and TMEM63C confers hyperosmolarity activated ion currents in HEK293 cells.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (4) 
    • Gene trapped (1) 
    • Targeted (1) 

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC11687, MGC25803

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables calcium-activated cation channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables calcium-activated cation channel activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables mechanosensitive monoatomic ion channel activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables mechanosensitive monoatomic ion channel activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables nucleic acid binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables osmolarity-sensing monoatomic cation channel activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in monoatomic cation transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in surfactant secretion IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in centriolar satellite IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in centriolar satellite ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in early endosome membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in early endosome membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in intracellular membrane-bounded organelle ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in lysosomal membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in lysosomal membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    CSC1-like protein 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_001417552.1 → NP_001404481.1  CSC1-like protein 1 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC117673
      UniProtKB/Swiss-Prot
      Q3TCS5, Q69ZZ1, Q91YT8

    2. NM_001417553.1 → NP_001404482.1  CSC1-like protein 1 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC117673
      UniProtKB/Swiss-Prot
      Q3TCS5, Q69ZZ1, Q91YT8

    3. NM_001417554.1 → NP_001404483.1  CSC1-like protein 1 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC117673
      UniProtKB/Swiss-Prot
      Q3TCS5, Q69ZZ1, Q91YT8
      Related
      ENSMUSP00000124021.2, ENSMUST00000161523.8

    4. NM_001417555.1 → NP_001404484.1  CSC1-like protein 1 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC117673

    5. NM_001417556.1 → NP_001404485.1  CSC1-like protein 1 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC117673

    6. NM_001417557.1 → NP_001404486.1  CSC1-like protein 1 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC117673

    7. NM_144794.3 → NP_659043.1  CSC1-like protein 1 isoform 1

      See identical proteins and their annotated locations for NP_659043.1

      Status: VALIDATED

      Source sequence(s)
      AC117673
      Consensus CDS
      CCDS15578.1
      UniProtKB/Swiss-Prot
      Q3TCS5, Q69ZZ1, Q91YT8
      Related
      ENSMUSP00000027800.9, ENSMUST00000027800.15
      Conserved Domains (3) summary
      pfam02714
      Location:420 → 655
      RSN1_7TM; Calcium-dependent channel, 7TM region, putative phosphate
      pfam13967
      Location:61 → 213
      RSN1_TM; Late exocytosis, associated with Golgi transport
      pfam14703
      Location:228 → 409
      PHM7_cyt; Cytosolic domain of 10TM putative phosphate transporter

    RNA

    1. NR_184529.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC117673

    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_000067.7 Reference GRCm39 C57BL/6J

      Range
      180769899..180802671
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006496722.4 → XP_006496785.1  CSC1-like protein 1 isoform X2

      See identical proteins and their annotated locations for XP_006496785.1

      UniProtKB/Swiss-Prot
      Q3TCS5, Q69ZZ1, Q91YT8
      Conserved Domains (3) summary
      pfam02714
      Location:420 → 655
      RSN1_7TM; Calcium-dependent channel, 7TM region, putative phosphate
      pfam13967
      Location:61 → 213
      RSN1_TM; Late exocytosis, associated with Golgi transport
      pfam14703
      Location:228 → 409
      PHM7_cyt; Cytosolic domain of 10TM putative phosphate transporter

    2. XM_036163148.1 → XP_036019041.1  CSC1-like protein 1 isoform X1

      Conserved Domains (3) summary
      pfam02714
      Location:437 → 672
      RSN1_7TM; Calcium-dependent channel, 7TM region, putative phosphate
      pfam13967
      Location:78 → 230
      RSN1_TM; Late exocytosis, associated with Golgi transport
      pfam14703
      Location:245 → 426
      PHM7_cyt; Cytosolic domain of 10TM putative phosphate transporter

    RNA

    1. XR_004941349.1 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q91YT8.1 GenPept UniProtKB/Swiss-Prot:Q91YT8

    Gene LinkOut

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