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

Gene ID: 208795, updated on 28-Oct-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, Oct 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 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

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