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

Summary

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; endoplasmic reticulum calcium ion homeostasis; and ossification. Predicted to be located in endoplasmic reticulum membrane. Predicted to be part of multi-pass translocon complex. Predicted to be active in endoplasmic reticulum. Is expressed in clavicle; mandible; maxilla; and rib. Used to study craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome. Human ortholog(s) of this gene implicated in craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1. Orthologous to human TMCO1 (transmembrane and coiled-coil domains 1). [provided by Alliance of Genome Resources, Nov 2024]
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

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_000067.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (5) 1 citation
Targeted (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AU022572 (e-PCR)
- UniSTS:207245

fl05f06.x1 (e-PCR)
- UniSTS:201902

AA109065 (e-PCR), detects polymorphism
- UniSTS:143025

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 calcium channel activity	ISS Inferred from Sequence or Structural Similarity more info
enables ribosome binding	ISO Inferred from Sequence Orthology more info
enables ribosome binding	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in ER overload response	ISO Inferred from Sequence Orthology more info
involved_in ER overload response	ISS Inferred from Sequence or Structural Similarity 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
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
involved_in multi-pass transmembrane protein insertion into ER membrane	ISO Inferred from Sequence Orthology more info
involved_in multi-pass transmembrane protein insertion into ER membrane	ISS Inferred from Sequence or Structural Similarity more info
involved_in ossification	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi membrane	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 endoplasmic reticulum membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in mitochondrial membrane	IEA Inferred from Electronic Annotation more info
part_of multi-pass translocon complex	ISO Inferred from Sequence Orthology more info
part_of multi-pass translocon complex	ISS Inferred from Sequence or Structural Similarity 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)

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

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

NM_026881.2: Suppressed sequence

Description

NM_026881.2: This RefSeq was permanently suppressed because it is a nonsense-mediated decay (NMD) candidate.