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Aliases for TMEM30A Gene

Aliases for TMEM30A Gene

  • Transmembrane Protein 30A 2 3 4
  • CDC50A 3 4 6
  • P4-ATPase Flippase Complex Beta Subunit TMEM30A 3 4
  • C6orf67 3 4
  • Chromosome 6 Open Reading Frame 67 2
  • Cell Cycle Control Protein 50A 3

External Ids for TMEM30A Gene

Previous HGNC Symbols for TMEM30A Gene

  • C6orf67

Previous GeneCards Identifiers for TMEM30A Gene

  • GC06M075959
  • GC06M076019
  • GC06M075962
  • GC06M073161

Summaries for TMEM30A Gene

GeneCards Summary for TMEM30A Gene

TMEM30A (Transmembrane Protein 30A) is a Protein Coding gene. An important paralog of this gene is TMEM30B.

UniProtKB/Swiss-Prot for TMEM30A Gene

  • Accessory component of a P4-ATPase flippase complex which catalyzes the hydrolysis of ATP coupled to the transport of aminophospholipids from the outer to the inner leaflet of various membranes and ensures the maintenance of asymmetric distribution of phospholipids. Phospholipid translocation seems also to be implicated in vesicle formation and in uptake of lipid signaling molecules. The beta subunit may assist in binding of the phospholipid substrate. Required for the proper folding, assembly and ER to Golgi exit of the ATP8A2:TMEM30A flippase complex. ATP8A2:TMEM30A may be involved in regulation of neurite outgrowth, and, reconstituted to liposomes, predomiminantly transports phosphatidylserine (PS) and to a lesser extent phosphatidylethanolamine (PE). The ATP8A1:TMEM30A flippase complex seems to play a role in regulation of cell migration probably involving flippase-mediated translocation of phosphatidylethanolamine (PE) at the plasma membrane. Required for the formation of the ATP8A2, ATP8B1 and ATP8B2 P-type ATPAse intermediate phosphoenzymes. Involved in uptake of platelet-activating factor (PAF), synthetic drug alkylphospholipid edelfosine, and, probably in association with ATP8B1, of perifosine. Also mediate the export of alpha subunits ATP8A1, ATP8B1, ATP8B2, ATP8B4, ATP10A, ATP10B, ATP10D, ATP11A, ATP11B and ATP11C from the ER to other membrane localizations.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TMEM30A Gene

Genomics for TMEM30A Gene

Regulatory Elements for TMEM30A Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for TMEM30A Gene

Start:
75,252,922 bp from pter
End:
75,284,968 bp from pter
Size:
32,047 bases
Orientation:
Minus strand

Genomic View for TMEM30A Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TMEM30A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TMEM30A Gene

Proteins for TMEM30A Gene

  • Protein details for TMEM30A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NV96-CC50A_HUMAN
    Recommended name:
    Cell cycle control protein 50A
    Protein Accession:
    Q9NV96
    Secondary Accessions:
    • A8K9V8
    • E1P539
    • Q658Z3
    • Q96H09
    • Q9NSL9

    Protein attributes for TMEM30A Gene

    Size:
    361 amino acids
    Molecular mass:
    40684 Da
    Quaternary structure:
    • Component of various P4-ATPase flippase complexes which consists of a catalytic alpha subunit and an accessory beta subunit. The ATP8A2:TMEM30A flippase complex has been purified, and ATP8B1:TMEM30A and ATP8B2:TMEM30A flippase complexes have been shown to form intermediate phosphoenzymes in vitro. Interacts with alpha subunits ATP8A1, ATP8B1, ATP8B2, ATP8B4, ATP11A, ATP11B and ATP11C.

    Alternative splice isoforms for TMEM30A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TMEM30A Gene

Proteomics data for TMEM30A Gene at MOPED

Post-translational modifications for TMEM30A Gene

  • N-glycosylated. Contains high mannose-type oligosaccharides (By similarity).
  • Ubiquitination at Lys8, Lys24, Lys210, and Lys213
  • Glycosylation at Asn180, Asn190, Thr285, and Asn294
  • Modification sites at PhosphoSitePlus

Other Protein References for TMEM30A Gene

No data available for DME Specific Peptides for TMEM30A Gene

Domains for TMEM30A Gene

Protein Domains for TMEM30A Gene

Suggested Antigen Peptide Sequences for TMEM30A Gene

Graphical View of Domain Structure for InterPro Entry

Q9NV96

UniProtKB/Swiss-Prot:

CC50A_HUMAN :
  • Q9NV96
Domain:
  • The N-terminal domain seems to play a role in the reaction cycle of the catalytic subunit such as ATP8A2.
Family:
  • Belongs to the CDC50/LEM3 family.
genes like me logo Genes that share domains with TMEM30A: view

No data available for Gene Families for TMEM30A Gene

Function for TMEM30A Gene

Molecular function for TMEM30A Gene

UniProtKB/Swiss-Prot Function: Accessory component of a P4-ATPase flippase complex which catalyzes the hydrolysis of ATP coupled to the transport of aminophospholipids from the outer to the inner leaflet of various membranes and ensures the maintenance of asymmetric distribution of phospholipids. Phospholipid translocation seems also to be implicated in vesicle formation and in uptake of lipid signaling molecules. The beta subunit may assist in binding of the phospholipid substrate. Required for the proper folding, assembly and ER to Golgi exit of the ATP8A2:TMEM30A flippase complex. ATP8A2:TMEM30A may be involved in regulation of neurite outgrowth, and, reconstituted to liposomes, predomiminantly transports phosphatidylserine (PS) and to a lesser extent phosphatidylethanolamine (PE). The ATP8A1:TMEM30A flippase complex seems to play a role in regulation of cell migration probably involving flippase-mediated translocation of phosphatidylethanolamine (PE) at the plasma membrane. Required for the formation of the ATP8A2, ATP8B1 and ATP8B2 P-type ATPAse intermediate phosphoenzymes. Involved in uptake of platelet-activating factor (PAF), synthetic drug alkylphospholipid edelfosine, and, probably in association with ATP8B1, of perifosine. Also mediate the export of alpha subunits ATP8A1, ATP8B1, ATP8B2, ATP8B4, ATP10A, ATP10B, ATP10D, ATP11A, ATP11B and ATP11C from the ER to other membrane localizations.

Gene Ontology (GO) - Molecular Function for TMEM30A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 19731236
genes like me logo Genes that share ontologies with TMEM30A: view

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , Transcription Factor Targeting and HOMER Transcription for TMEM30A Gene

Localization for TMEM30A Gene

Subcellular locations from UniProtKB/Swiss-Prot for TMEM30A Gene

Membrane; Multi-pass membrane protein. Cell membrane. Golgi apparatus. Cytoplasmic vesicle, secretory vesicle membrane. Apical cell membrane.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TMEM30A Gene COMPARTMENTS Subcellular localization image for TMEM30A gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 3
mitochondrion 1

Gene Ontology (GO) - Cellular Components for TMEM30A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IDA 21914794
GO:0005794 Golgi apparatus IEA --
GO:0005886 plasma membrane --
GO:0016020 membrane IDA 19946888
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with TMEM30A: view

Pathways for TMEM30A Gene

SuperPathways for TMEM30A Gene

No Data Available

Gene Ontology (GO) - Biological Process for TMEM30A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006855 drug transmembrane transport IDA 20510206
GO:0010976 positive regulation of neuron projection development IEA --
GO:0036010 protein localization to endosome IMP 21914794
GO:0045332 phospholipid translocation IDA 20510206
GO:0070863 positive regulation of protein exit from endoplasmic reticulum IDA 21914794
genes like me logo Genes that share ontologies with TMEM30A: view

No data available for Pathways by source for TMEM30A Gene

Transcripts for TMEM30A Gene

Unigene Clusters for TMEM30A Gene

Transmembrane protein 30A:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for TMEM30A

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for TMEM30A Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7
SP1: -
SP2:
SP3: - -

Relevant External Links for TMEM30A Gene

GeneLoc Exon Structure for
TMEM30A
ECgene alternative splicing isoforms for
TMEM30A

Expression for TMEM30A Gene

mRNA expression in normal human tissues for TMEM30A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for TMEM30A Gene

SOURCE GeneReport for Unigene cluster for TMEM30A Gene Hs.108530

genes like me logo Genes that share expressions with TMEM30A: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for TMEM30A Gene

Orthologs for TMEM30A Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for TMEM30A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TMEM30A 35
  • 99.63 (n)
  • 100 (a)
TMEM30A 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TMEM30A 35
  • 92.34 (n)
  • 93.07 (a)
TMEM30A 36
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TMEM30A 35
  • 93.35 (n)
  • 93.91 (a)
TMEM30A 36
  • 75 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tmem30a 35
  • 88.46 (n)
  • 89.2 (a)
Tmem30a 16
Tmem30a 36
  • 88 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TMEM30A 36
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TMEM30A 36
  • 79 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tmem30a 35
  • 89.03 (n)
  • 90.46 (a)
chicken
(Gallus gallus)
Aves TMEM30A 35
  • 78.31 (n)
  • 84.08 (a)
TMEM30A 36
  • 79 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TMEM30A 36
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia MGC75889 35
tmem30a 35
  • 72.92 (n)
  • 77.31 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3734 35
zebrafish
(Danio rerio)
Actinopterygii Dr.3449 35
tmem30aa 36
  • 70 (a)
OneToMany
tmem30ab 36
  • 70 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000704 35
  • 52.41 (n)
  • 54.82 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG9947 35
  • 56.17 (n)
  • 58.95 (a)
CG9947 36
  • 52 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea chat-1 35
  • 55.15 (n)
  • 52.63 (a)
W03G11.2 36
  • 20 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 36
  • 32 (a)
ManyToMany
-- 38
CDC50 36
  • 31 (a)
ManyToMany
LEM3 36
  • 27 (a)
ManyToMany
YNR048W 35
  • 49.11 (n)
  • 40.06 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons ALIS1 35
  • 51.4 (n)
  • 44.44 (a)
rice
(Oryza sativa)
Liliopsida Os06g0665000 35
  • 52.1 (n)
  • 43.04 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU01165 35
  • 42.83 (n)
  • 36.89 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes mug89 35
  • 51.64 (n)
  • 45.09 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 50 (a)
OneToMany
Species with no ortholog for TMEM30A:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TMEM30A Gene

ENSEMBL:
Gene Tree for TMEM30A (if available)
TreeFam:
Gene Tree for TMEM30A (if available)

Paralogs for TMEM30A Gene

Paralogs for TMEM30A Gene

Selected SIMAP similar genes for TMEM30A Gene using alignment to 2 proteins:

Pseudogenes.org Pseudogenes for TMEM30A Gene

genes like me logo Genes that share paralogs with TMEM30A: view

Variants for TMEM30A Gene

Sequence variations from dbSNP and Humsavar for TMEM30A Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type MAF
rs15616 -- 75,254,926(+) TATAC(A/G)TATTA utr-variant-3-prime
rs117512 -- 75,253,532(+) CTGAC(C/G)CTGTG utr-variant-3-prime
rs147523 -- 75,259,004(+) GGGGA(A/G)GGGAT intron-variant
rs173274 -- 75,268,493(+) tagaa(A/C)ctcta intron-variant
rs187067 -- 75,268,417(+) ggaaa(C/G)tgggg intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TMEM30A Gene

Variant ID Type Subtype PubMed ID
nsv830698 CNV Gain 17160897

Relevant External Links for TMEM30A Gene

HapMap Linkage Disequilibrium report
TMEM30A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TMEM30A Gene

Disorders for TMEM30A Gene

No disorders were found for TMEM30A Gene.

No data available for UniProtKB/Swiss-Prot for TMEM30A Gene

Publications for TMEM30A Gene

  1. Identification and characterization of CDC50A, CDC50B and CDC50C genes in silico. (PMID: 15375526) Katoh Y. … Katoh M. (Oncol. Rep. 2004) 2 3 4 23
  2. CDC50A plays a key role in the uptake of the anticancer drug perifosine in human carcinoma cells. (PMID: 20510206) MuA+oz-MartA-nez F. … Gamarro F. (Biochem. Pharmacol. 2010) 3 4
  3. Human TMEM30a promotes uptake of antitumor and bioactive choline phospholipids into mammalian cells. (PMID: 21289302) Chen R. … McIntyre T.M. (J. Immunol. 2011) 3 4
  4. Critical role of the beta-subunit CDC50A in the stable expression, assembly, subcellular localization, and lipid transport activity of the P4-ATPase ATP8A2. (PMID: 21454556) Coleman J.A. … Molday R.S. (J. Biol. Chem. 2011) 3 4
  5. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall A.J. … Beck S. (Nature 2003) 3 4

Products for TMEM30A Gene

Sources for TMEM30A Gene

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