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

Gene ID: 55754, updated on 3-Nov-2024

Summary

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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
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Genomic context

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See TMEM30A in Genome Data Viewer
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_000006.12Genomic Context describing neighboring genes Neighboring gene collagen type XII alpha 1 chain Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24756 Neighboring gene small nucleolar RNA, C/D box 156 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:75918738-75918943 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24757 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24758 Neighboring gene cytochrome c oxidase subunit 7A2 Neighboring gene uncharacterized LOC124901344 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr6:75981645-75982844 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:75994172-75994744 Neighboring gene TMEM30A divergent transcript Neighboring gene filamin A interacting protein 1 Neighboring gene high mobility group box 1 pseudogene 39

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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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Related articles in PubMed

  1. Deletion of the TMEM30A gene enables leukemic cell evasion of NK cell cytotoxicity. Kristenson L, et al. Proc Natl Acad Sci U S A, 2024 Apr 9. PMID 38557174, Free PMC Article
  2. TMEM30A loss-of-function mutations drive lymphomagenesis and confer therapeutically exploitable vulnerability in B-cell lymphoma. Ennishi D, et al. Nat Med, 2020 Apr. PMID 32094924, Free PMC Article
  3. CDC50A is required for aminophospholipid transport and cell fusion in mouse C2C12 myoblasts. Grifell-Junyent M, et al. J Cell Sci, 2022 Mar 1. PMID 34664668, Free PMC Article
  4. Expression and functional characterization of missense mutations in ATP8A2 linked to severe neurological disorders. Choi H, et al. Hum Mutat, 2019 Dec. PMID 31397519
  5. Human TMEM30a promotes uptake of antitumor and bioactive choline phospholipids into mammalian cells. Chen R, et al. J Immunol, 2011 Mar 1. PMID 21289302, Free PMC Article

See all (77) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. Crystal structure of a human plasma membrane phospholipid flippase.
    Title: Crystal structure of a human plasma membrane phospholipid flippase.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. 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)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ10856

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 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)

  1. 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

  2. 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

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    75252924..75284792 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    76429754..76461614 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9NV96.1 GenPept UniProtKB/Swiss-Prot:Q9NV96

Gene LinkOut

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