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

Gene ID: 289318, updated on 2-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 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
  
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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