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    Tmem63a transmembrane protein 63a [ Rattus norvegicus (Norway rat) ]

    Gene ID: 289318, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Tmem63aprovided by RGD
    Official Full Name
    transmembrane protein 63aprovided by RGD
    Primary source
    RGD:1306829
    See related
    EnsemblRapid:ENSRNOG00000003310 AllianceGenome:RGD:1306829
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Also known as
    Tmem6; RGD1306829
    Summary
    Predicted to enable calcium-activated cation channel activity; mechanosensitive monoatomic ion channel activity; and osmolarity-sensing monoatomic cation channel activity. Predicted to be involved in monoatomic cation transmembrane transport and surfactant secretion. Predicted to be located in centriolar satellite; early endosome membrane; and lysosomal membrane. Predicted to be active 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
    Biased expression in Lung (RPKM 62.9), Liver (RPKM 54.2) and 9 other tissues See more
    Orthologs
    human mouse all
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    Genomic context

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    See Tmem63a in Genome Data Viewer
    Location:
    13q26
    Exon count:
    27
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 13 NC_086031.1 (95194323..95227944)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 13 NC_051348.1 (92662872..92696186)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 13 NC_005112.4 (99219585..99253176)

    Chromosome 13 - NC_086031.1Genomic Context describing neighboring genes Neighboring gene pyrroline-5-carboxylate reductase 2 Neighboring gene uncharacterized LOC134481606 Neighboring gene left right determination factor 1 Neighboring gene uncharacterized LOC120096328 Neighboring gene epoxide hydrolase 1 Neighboring gene epoxide hydrolase 1-like Neighboring gene delta(4)-desaturase, sphingolipid 1 like 1

    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
    • 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. Heterozygous Variants in the Mechanosensitive Ion Channel TMEM63A Result in Transient Hypomyelination during Infancy. Yan H, et al. Am J Hum Genet, 2019 Nov 7. PMID 31587869, Free PMC Article
    2. The proteome of lysosomes. Schröder BA, et al. Proteomics, 2010 Nov. PMID 20957757
    3. 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
    4. OSCA/TMEM63 are an Evolutionarily Conserved Family of Mechanically Activated Ion Channels. Murthy SE, et al. Elife, 2018 Nov 1. PMID 30382938, Free PMC Article
    5. Integral and associated lysosomal membrane proteins. Schröder B, et al. Traffic, 2007 Dec. PMID 17897319

    See all (8) citations in PubMed

    GeneRIFs: Gene References Into Functions

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by RGD

    Function Evidence Code Pubs
    enables calcium-activated cation channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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 ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in monoatomic cation transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in surfactant secretion IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in surfactant secretion ISO
    Inferred from Sequence Orthology
    more info
    		  
    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 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
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    CSC1-like protein 1
    Names
    transmembrane protein 6

    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_001134496.2 → NP_001127968.2  CSC1-like protein 1

      See identical proteins and their annotated locations for NP_001127968.2

      Status: VALIDATED

      Source sequence(s)
      JAXUCZ010000013
      UniProtKB/TrEMBL
      D4A2I3
      Related
      ENSRNOP00000106891.1, ENSRNOT00000150426.1
      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

    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_086031.1 Reference GRCr8

      Range
      95194323..95227944
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017598727.3 → XP_017454216.1  CSC1-like protein 1 isoform X2

      UniProtKB/TrEMBL
      D4A2I3
      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_006250365.4 → XP_006250427.1  CSC1-like protein 1 isoform X2

      See identical proteins and their annotated locations for XP_006250427.1

      UniProtKB/TrEMBL
      D4A2I3
      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

    3. XM_006250364.5 → XP_006250426.1  CSC1-like protein 1 isoform X1

      UniProtKB/TrEMBL
      A0A0G2JVY4
      Related
      ENSRNOP00000069668.1, ENSRNOT00000083608.3
      Conserved Domains (3) summary
      pfam02714
      Location:355 → 659
      RSN1_7TM; Calcium-dependent channel, 7TM region, putative phosphate
      pfam13967
      Location:67 → 219
      RSN1_TM; Late exocytosis, associated with Golgi transport
      pfam14703
      Location:267 → 330
      PHM7_cyt; Cytosolic domain of 10TM putative phosphate transporter

    4. XM_063272167.1 → XP_063128237.1  CSC1-like protein 1 isoform X2

    5. XM_039090560.2 → XP_038946488.1  CSC1-like protein 1 isoform X2

      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

    6. XM_063272168.1 → XP_063128238.1  CSC1-like protein 1 isoform X3

      UniProtKB/TrEMBL
      A6JGI4
    Nucleotide Protein Strain
    Heading Accession and Version

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