TMEM30A transmembrane protein 30A [Homo sapiens (human)] - Gene

Summary

Official Symbol: TMEM30Aprovided by HGNC
Official Full Name: transmembrane protein 30Aprovided by HGNC
Primary source: HGNC:HGNC:16667
See related: Ensembl:ENSG00000112697 MIM:611028; AllianceGenome:HGNC:16667
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CDC50A; C6orf67
Summary: Enables aminophospholipid flippase activity and structural molecule activity. Involved in several processes, including phospholipid transport; positive regulation of transport; and xenobiotic transmembrane transport. Located in endoplasmic reticulum and plasma membrane. Part of early endosome membrane; late endosome membrane; and phospholipid-translocating ATPase complex. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in brain (RPKM 71.6), lung (RPKM 58.3) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 6q14.1

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (75252924..75284792, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (76429754..76461614, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (75962640..75994508, complement)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Deletion of the TMEM30A gene enables leukemic cell evasion of NK cell cytotoxicity.
Title: Deletion of the TMEM30A gene enables leukemic cell evasion of NK cell cytotoxicity.
CircTMEM30A/hsa-miR-130a-3p regulates TNFalpha and promotes the malignant progression of COPD with primary lung cancer.
Title: CircTMEM30A/hsa-miR-130a-3p regulates TNFα and promotes the malignant progression of COPD with primary lung cancer.
Loss of phosphatidylserine flippase beta-subunit Tmem30a in podocytes leads to albuminuria and glomerulosclerosis.
Title: Loss of phosphatidylserine flippase β-subunit Tmem30a in podocytes leads to albuminuria and glomerulosclerosis.
CDC50A is required for aminophospholipid transport and cell fusion in mouse C2C12 myoblasts.
Title: CDC50A is required for aminophospholipid transport and cell fusion in mouse C2C12 myoblasts.
Crystal structure of a human plasma membrane phospholipid flippase.
Title: Crystal structure of a human plasma membrane phospholipid flippase.
Highlights on a multifaceted role for TMEM30A in B-cell lymphomagenesis, and characterization of intrinsic and extrinsic vulnerabilities of cancer cells that can be therapeutically exploited.
Title: TMEM30A loss-of-function mutations drive lymphomagenesis and confer therapeutically exploitable vulnerability in B-cell lymphoma.
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.
Identified TMEM30A as a candidate partner for beta-carboxyl-terminal fragment (betaCTF) of amyloid-beta precursor protein (APP). TMEM30A physically interacts with betaCTF in endosomes and may impair vesicular traffic, leading to abnormally enlarged endosomes. Data suggested that TMEM30A is involved in betaCTF-dependent endosome abnormalities that are related to Abeta overproduction.
Title: TMEM30A is a candidate interacting partner for the β-carboxyl-terminal fragment of amyloid-β precursor protein in endosomes.
results indicated that the extracellular domain of CDC50A has important roles both in CDC50A's ability to chaperone ATP11C to the plasma membrane and in inducing ATP11C's ATP hydrolysis-coupled flippase activity.
Title: The CDC50A extracellular domain is required for forming a functional complex with and chaperoning phospholipid flippases to the plasma membrane.
Data indicate that the lipid flippase (ATP8B1)-transmembrane protein 30A (CDC50A) heterodimer is essential for the apical localization of sodium-dependent bile acid transporter (SLC10A2/ASBT) in Caco-2 cells.
Title: The lipid flippase heterodimer ATP8B1-CDC50A is essential for surface expression of the apical sodium-dependent bile acid transporter (SLC10A2/ASBT) in intestinal Caco-2 cells.

Submit: New GeneRIF Correction See all GeneRIFs (16)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH12901 (e-PCR)
- UniSTS:42285

D6S1531E (e-PCR)
- UniSTS:153966

HUMHM01G09 (e-PCR)
- UniSTS:39805

RH78510 (e-PCR)
- UniSTS:59574

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables aminophospholipid flippase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables structural molecule activity	IDA Inferred from Direct Assay more info	PubMed

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

Component	Evidence Code	Pubs
is_active_in Golgi apparatus	IBA Inferred from Biological aspect of Ancestor more info
located_in apical plasma membrane	IEA Inferred from Electronic Annotation more info
located_in azurophil granule membrane	TAS Traceable Author Statement more info
located_in early endosome membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in endoplasmic reticulum	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
located_in late endosome membrane	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	HDA more info	PubMed
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	IPI Inferred from Physical Interaction more info	PubMed
located_in membrane	NAS Non-traceable Author Statement more info	PubMed
part_of phospholipid-translocating ATPase complex	IDA Inferred from Direct Assay more info	PubMed
part_of phospholipid-translocating ATPase complex	IPI Inferred from Physical Interaction more info	PubMed
part_of phospholipid-translocating ATPase complex	NAS Non-traceable Author Statement more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
located_in specific granule membrane	TAS Traceable Author Statement more info
located_in transport vesicle membrane	IEA Inferred from Electronic Annotation 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.

mRNA and Protein(s)

NM_001143958.2 → NP_001137430.1 cell cycle control protein 50A isoform 2

See identical proteins and their annotated locations for NP_001137430.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an in-frame exon in the coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.

Source sequence(s)

AA599967, AK292823, AL080250, AL832490, DB239737

Consensus CDS

CCDS47453.1

UniProtKB/TrEMBL

A0A669KBF5

Related

ENSP00000431007.1, ENST00000475111.6

Conserved Domains (1) summary

pfam03381
Location:77 → 313

CDC50; LEM3 (ligand-effect modulator 3) family / CDC50 family
NM_018247.4 → NP_060717.1 cell cycle control protein 50A isoform 1

See identical proteins and their annotated locations for NP_060717.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AA599967, AJ420517, AK001718, AL080250, DB239737

Consensus CDS

CCDS4983.1

UniProtKB/Swiss-Prot

A8K9V8, E1P539, Q658Z3, Q96H09, Q9NSL9, Q9NV96

UniProtKB/TrEMBL

B4DIF5

Related

ENSP00000230461.6, ENST00000230461.11

Conserved Domains (1) summary

pfam03381
Location:70 → 349

CDC50; LEM3 (ligand-effect modulator 3) family / CDC50 family