Tmem30a transmembrane protein 30A [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Tmem30aprovided by MGI
Official Full Name: transmembrane protein 30Aprovided by MGI
Primary source: MGI:MGI:106402
See related: Ensembl:ENSMUSG00000032328 AllianceGenome:MGI:106402
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: Cdc50a; D9Wsu20e; 2010200I23Rik
Summary: Predicted to enable aminophospholipid flippase activity. Involved in positive regulation of neuron projection development. Acts upstream of or within phospholipid translocation. Predicted to be located in cytoplasmic vesicle and membrane. Predicted to be integral component of membrane. Predicted to be part of phospholipid-translocating ATPase complex. Predicted to be active in Golgi apparatus; endoplasmic reticulum; and plasma membrane. Is expressed in extraembryonic component. Orthologous to human TMEM30A (transmembrane protein 30A). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in frontal lobe adult (RPKM 34.3), cerebellum adult (RPKM 30.8) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 9 E1; 9 43.82 cM

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
109	current	GRCm39 (GCF_000001635.27)	9	NC_000075.7 (79676223..79700712, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	9	NC_000075.6 (79768941..79793430, complement)

Chromosome 9 - NC_000075.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

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?

The phosphatidylserine flippase beta-subunit Tmem30a is essential for normal insulin maturation and secretion.
Title: The phosphatidylserine flippase β-subunit Tmem30a is essential for normal insulin maturation and secretion.
Phospholipid-flippase chaperone CDC50A is required for synapse maintenance by regulating phosphatidylserine exposure.
Title: Phospholipid-flippase chaperone CDC50A is required for synapse maintenance by regulating phosphatidylserine exposure.
findings demonstrate that Tmem30a plays a critical role in erythropoiesis by regulating the EPOR signaling pathway through the formation of membrane rafts in erythroid cells.
Title: Deletion of a flippase subunit Tmem30a in hematopoietic cells impairs mouse fetal liver erythropoiesis.
Mechanistically, deletion of TMEM30A caused reduced endothelial cell proliferation by inhibiting VEGF-induced signaling. The findings reveal essential roles of TMEM30A in angiogenesis, providing a potential therapeutic target.
Title: TMEM30A deficiency in endothelial cells impairs cell proliferation and angiogenesis.
An essential role of Tmem30a in the cerebellum PCs.
Title: Disruption of Tmem30a results in cerebellar ataxia and degeneration of Purkinje cells.
our studies demonstrate an essential role for Tmem30a in the retinal bipolar cells
Title: Tmem30a deficiency leads to retinal rod bipolar cell degeneration.
Tmem30a deficiency caused severe pancytopenia.
Title: Tmem30a Plays Critical Roles in Ensuring the Survival of Hematopoietic Cells and Leukemia Cells in Mice.
These data demonstrated that loss of Tmem30a in mouse cone cells leads to mislocalization of cone opsin, loss of photopic electroretinogram (ERG) responses and loss of cone cells.
Title: Loss of Tmem30a leads to photoreceptor degeneration.
TMEM30A may be a novel genetic determinant of intrahepatic cholestasis.
Title: Hepatic Tmem30a Deficiency Causes Intrahepatic Cholestasis by Impairing Expression and Localization of Bile Salt Transporters.
CDC50A is present as a fully glycosylated protein in vivo, which presumes interaction with distinct P4 ATPases.
Title: Cellular localization and biochemical analysis of mammalian CDC50A, a glycosylated β-subunit for P4 ATPases.

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Variation

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Alleles

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

Targeted (3) 1 citation
Endonuclease-mediated (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D17878 (e-PCR)
- UniSTS:124735

RH124602 (e-PCR)
- UniSTS:161424

RH143617 (e-PCR)
- UniSTS:232863

D9Wsu20e (e-PCR), detects polymorphism
- UniSTS:142821

AW540225 (e-PCR)
- UniSTS:179944

Homology

Homologs of the Tmem30a gene: The Tmem30a gene is conserved in human, chimpanzee, Rhesus monkey, dog, cow, rat, chicken, fruit fly, mosquito, C.elegans, S.cerevisiae, S.pombe, M.oryzae, N.crassa, A.thaliana, rice, and frog.
Orthologs from Annotation Pipeline: 347 organisms have orthologs with human gene Tmem30a
Orthologs

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables aminophospholipid flippase activity	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables structural molecule activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in aminophospholipid transport	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within lipid transport	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within neuron projection development	ISO Inferred from Sequence Orthology more info
involved_in phospholipid translocation	IBA Inferred from Biological aspect of Ancestor more info	PubMed
acts_upstream_of_or_within phospholipid translocation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in phospholipid translocation	ISO Inferred from Sequence Orthology more info
involved_in phospholipid transport	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of neuron projection development	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of phospholipid translocation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of protein exit from endoplasmic reticulum	ISO Inferred from Sequence Orthology more info
involved_in protein localization to endosome	ISO Inferred from Sequence Orthology more info
involved_in xenobiotic transmembrane transport	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
is_active_in Golgi apparatus	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in cytoplasmic vesicle	IEA Inferred from Electronic Annotation more info
located_in early endosome membrane	ISO Inferred from Sequence Orthology more info
is_active_in endoplasmic reticulum	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in endoplasmic reticulum	ISO Inferred from Sequence Orthology more info
located_in late endosome membrane	ISO Inferred from Sequence Orthology more info
located_in membrane	IEA Inferred from Electronic Annotation more info
part_of phospholipid-translocating ATPase complex	ISO Inferred from Sequence Orthology more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in plasma membrane	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: cell cycle control protein 50A

Names: P4-ATPase flippase complex beta subunit TMEM30A

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.