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Tmco1 transmembrane and coiled-coil domains 1 [ Mus musculus (house mouse) ]

Gene ID: 68944, updated on 4-May-2024

Summary

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Official Symbol
Tmco1provided by MGI
Official Full Name
transmembrane and coiled-coil domains 1provided by MGI
Primary source
MGI:MGI:1921173
See related
Ensembl:ENSMUSG00000052428 AllianceGenome:MGI:1921173
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
ESTM39; 1190006A08Rik; 4930403O06Rik
Summary
Predicted to enable calcium channel activity and ribosome binding activity. Involved in calcium ion transmembrane transport and endoplasmic reticulum calcium ion homeostasis. Predicted to be integral component of endoplasmic reticulum membrane. Predicted to be active in endoplasmic reticulum. Is expressed in clavicle; mandible; maxilla; and rib. Orthologous to human TMCO1 (transmembrane and coiled-coil domains 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in adrenal adult (RPKM 17.2), kidney adult (RPKM 12.2) and 28 other tissues See more
Orthologs
human all
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Genomic context

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Location:
1 H2.3; 1 74.69 cM
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 1 NC_000067.7 (167136239..167161547)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 1 NC_000067.6 (167308670..167333978)

Chromosome 1 - NC_000067.7Genomic Context describing neighboring genes Neighboring gene predicted gene 2453 Neighboring gene microRNA 6347 Neighboring gene STARR-positive B cell enhancer ABC_E9494 Neighboring gene STARR-positive B cell enhancer ABC_E9495 Neighboring gene STARR-positive B cell enhancer ABC_E10054 Neighboring gene STARR-positive B cell enhancer ABC_E8779 Neighboring gene STARR-positive B cell enhancer ABC_E2583 Neighboring gene predicted gene, 24182 Neighboring gene aldehyde dehydrogenase 9, subfamily A1

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. TMCO1 is essential for ovarian follicle development by regulating ER Ca(2+) store of granulosa cells. Sun Z, et al. Cell Death Differ, 2018 Sep. PMID 29467381, Free PMC Article
  2. TMCO1-mediated Ca(2+) leak underlies osteoblast functions via CaMKII signaling. Li J, et al. Nat Commun, 2019 Apr 8. PMID 30962442, Free PMC Article
  3. ER stress mediated degradation of diacylglycerol acyltransferase impairs mitochondrial functions in TMCO1 deficient cells. Wang X, et al. Biochem Biophys Res Commun, 2019 May 14. PMID 30929916
  4. Quantitative trait loci for steady-state platelet count in mice. Cheung CC, et al. Mamm Genome, 2004 Oct. PMID 15520881
  5. Ca(2+) homeostasis maintained by TMCO1 underlies corpus callosum development via ERK signaling. Yang KY, et al. Cell Death Dis, 2022 Aug 4. PMID 35927240, Free PMC Article

See all (33) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Ca(2+) homeostasis maintained by TMCO1 underlies corpus callosum development via ERK signaling.
    Title: Ca(2+) homeostasis maintained by TMCO1 underlies corpus callosum development via ERK signaling.
  2. The role of TMCO1 in regulating lipid-metabolism and mitochondrial function.
    Title: ER stress mediated degradation of diacylglycerol acyltransferase impairs mitochondrial functions in TMCO1 deficient cells.
  3. Tmco1 is required for ovarian follicle development, which is closely linked with the role of TMCO1 in maintaining normal ER Ca2+ store in GCs. Deletion of Tmco1 can cause ER Ca2+ overloaded in GCs followed by ER stress and oxidative stress.
    Title: TMCO1 is essential for ovarian follicle development by regulating ER Ca(2+) store of granulosa cells.
  4. An essential role of TMCO1 in osteogenesis mediated by local Ca(2+)/CaMKII signaling in osteoblasts.
    Title: TMCO1-mediated Ca(2+) leak underlies osteoblast functions via CaMKII signaling.
  5. TMCO1 provides a protective mechanism to prevent overfilling of endoplasmic reticulum stores with Ca(2+) ions
    Title: TMCO1 Is an ER Ca(2+) Load-Activated Ca(2+) Channel.
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 calcium channel activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables calcium channel activity ISO
Inferred from Sequence Orthology
more info
  
enables ribosome binding ISO
Inferred from Sequence Orthology
more info
  
Process Evidence Code Pubs
involved_in ER overload response ISO
Inferred from Sequence Orthology
more info
  
involved_in calcium ion transmembrane transport IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in calcium ion transmembrane transport ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within calcium ion transport IEA
Inferred from Electronic Annotation
more info
  
involved_in endoplasmic reticulum calcium ion homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in endoplasmic reticulum calcium ion homeostasis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in endoplasmic reticulum calcium ion homeostasis ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within monoatomic ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within monoatomic ion transport IEA
Inferred from Electronic Annotation
more info
  
involved_in multi-pass transmembrane protein insertion into ER membrane ISO
Inferred from Sequence Orthology
more info
  
Component Evidence Code Pubs
located_in Golgi apparatus IEA
Inferred from Electronic Annotation
more info
  
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
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 ISO
Inferred from Sequence Orthology
more info
  
located_in membrane IEA
Inferred from Electronic Annotation
more info
  
part_of multi-pass translocon complex ISO
Inferred from Sequence Orthology
more info
  

General protein information

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Preferred Names
calcium load-activated calcium channel
Names
CLAC channel
GEL complex subunit TMCO1
transmembrane and coiled-coil domain-containing 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_001039483.1 → NP_001034572.1  calcium load-activated calcium channel

    See identical proteins and their annotated locations for NP_001034572.1

    Status: VALIDATED

    Source sequence(s)
    AC113970, AK004504, AK037709
    Consensus CDS
    CCDS15456.1
    UniProtKB/Swiss-Prot
    Q3TS11, Q921L3
    UniProtKB/TrEMBL
    A0A0A6YVS2, Q3V4A0
    Related
    ENSMUSP00000142042.2, ENSMUST00000195015.6
    Conserved Domains (1) summary
    pfam01956
    Location:8 → 165
    DUF106; Integral membrane protein DUF106

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
    167136239..167161547
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_026881.2: Suppressed sequence

    Description
    NM_026881.2: This RefSeq was permanently suppressed because it is a nonsense-mediated decay (NMD) candidate.
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q921L3.1 GenPept UniProtKB/Swiss-Prot:Q921L3

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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