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Aliases for TMEM30A Gene

Aliases for TMEM30A Gene

  • Transmembrane Protein 30A 2 3 4 5
  • P4-ATPase Flippase Complex Beta Subunit TMEM30A 3 4
  • C6orf67 3 4
  • CDC50A 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. Diseases associated with TMEM30A include Intrahepatic Cholestasis. Among its related pathways are Innate Immune System. 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.

Additional gene information for TMEM30A Gene

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

Genomics for TMEM30A Gene

GeneHancer (GH) Regulatory Elements for TMEM30A Gene

Promoters and enhancers for TMEM30A Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06I075280 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 557.1 +1.4 1362 6.1 HDGF PKNOX1 SMAD1 ARNT ARID4B SIN3A FEZF1 DMAP1 IRF4 YY1 TMEM30A LOC100506804 FILIP1 COX7A2
GH06I075242 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 20.7 +41.2 41241 2.7 PKNOX1 CLOCK SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B IRF4 COX7A2 TMEM30A LOC100506804 FILIP1 SENP6 COL12A1
GH06I075200 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 6.2 +80.0 80005 8.5 FOXA2 SIN3A FEZF1 ZNF2 ZNF213 ZNF143 FOS KLF13 DEK SP3 COL12A1 SENP6 LOC100506804 TMEM30A GC06P075070
GH06I075523 Enhancer 1.2 Ensembl ENCODE 11.2 -239.4 -239432 1.3 PKNOX1 FOXA2 MLX ARID4B NEUROD1 SIN3A FEZF1 ZNF2 ZNF213 ZNF302 SENP6 FILIP1 RPL26P20 LOC100506804 TMEM30A RNU1-34P ENSG00000237174 GC06P075549
GH06I075333 Enhancer 1.2 Ensembl ENCODE dbSUPER 10.8 -49.6 -49574 2.1 ZSCAN4 INSM2 KLF17 ZNF76 SIN3A FEZF1 ZNF2 ZNF335 ZNF366 SCRT2 FILIP1 SENP6 ENSG00000237174 TMEM30A LOC100506804 GC06P075349 HMGB1P39
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TMEM30A on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TMEM30A gene promoter:

Genomic Locations for TMEM30A Gene

Genomic Locations for TMEM30A Gene
chr6:75,252,922-75,284,968
(GRCh38/hg38)
Size:
32,047 bases
Orientation:
Minus strand
chr6:75,962,638-75,994,684
(GRCh37/hg19)

Genomic View for TMEM30A Gene

Genes around TMEM30A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TMEM30A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Post-translational modifications for TMEM30A Gene

  • N-glycosylated. Contains high mannose-type oligosaccharides (By similarity).
  • Ubiquitination at isoforms=28, posLast=2424, and posLast=213213
  • Glycosylation at posLast=180180, posLast=190190, posLast=285285, and isoforms=2, 3294

Other Protein References for TMEM30A Gene

No data available for DME Specific Peptides for TMEM30A Gene

Domains & Families for TMEM30A Gene

Gene Families for TMEM30A Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

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 :
  • The N-terminal domain seems to play a role in the reaction cycle of the catalytic subunit such as ATP8A2.
  • Belongs to the CDC50/LEM3 family.
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

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.

Phenotypes From GWAS Catalog for TMEM30A Gene

Gene Ontology (GO) - Molecular Function for TMEM30A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 19731236
GO:0015247 aminophospholipid transmembrane transporter activity IDA 20510206
genes like me logo Genes that share ontologies with TMEM30A: view

Phenotypes for TMEM30A Gene

MGI mutant phenotypes for TMEM30A:
inferred from 1 alleles
GenomeRNAi human phenotypes for TMEM30A:
genes like me logo Genes that share phenotypes with TMEM30A: view

Animal Models for TMEM30A Gene

MGI Knock Outs for TMEM30A:

Animal Model Products

miRNA for TMEM30A Gene

miRTarBase miRNAs that target TMEM30A

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TMEM30A gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 5
lysosome 4
golgi apparatus 4
mitochondrion 3
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

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 IDA,TAS --
GO:0016020 membrane HDA,IEA 19946888
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with TMEM30A: view

Pathways & Interactions for TMEM30A Gene

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

Pathways by source for TMEM30A Gene

3 Reactome pathways for TMEM30A Gene

Gene Ontology (GO) - Biological Process for TMEM30A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006855 drug transmembrane transport IDA 20510206
GO:0006869 lipid transport IEA --
GO:0010976 positive regulation of neuron projection development IEA --
GO:0015914 phospholipid transport IEA --
genes like me logo Genes that share ontologies with TMEM30A: view

No data available for SIGNOR curated interactions for TMEM30A Gene

Drugs & Compounds for TMEM30A Gene

No Compound Related Data Available

Transcripts for TMEM30A Gene

Unigene Clusters for TMEM30A Gene

Transmembrane protein 30A:
Representative Sequences:

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE for TMEM30A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for TMEM30A Gene

This gene is overexpressed in Nasal epithelium (52.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TMEM30A Gene



Protein tissue co-expression partners for TMEM30A Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TMEM30A Gene:

TMEM30A

SOURCE GeneReport for Unigene cluster for TMEM30A Gene:

Hs.108530

Evidence on tissue expression from TISSUES for TMEM30A Gene

  • Nervous system(5)
  • Liver(4.5)
  • Lymph node(4.3)
  • Skin(3)
  • Pancreas(2.5)
  • Intestine(2.2)
  • Kidney(2.2)
  • Lung(2.2)
  • Spleen(2.1)
genes like me logo Genes that share expression patterns with TMEM30A: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33 34
  • 99.63 (n)
dog
(Canis familiaris)
Mammalia TMEM30A 33 34
  • 93.35 (n)
cow
(Bos Taurus)
Mammalia TMEM30A 33 34
  • 92.34 (n)
rat
(Rattus norvegicus)
Mammalia Tmem30a 33
  • 89.03 (n)
mouse
(Mus musculus)
Mammalia Tmem30a 33 16 34
  • 88.46 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TMEM30A 34
  • 79 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TMEM30A 34
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves TMEM30A 33 34
  • 78.31 (n)
lizard
(Anolis carolinensis)
Reptilia TMEM30A 34
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tmem30a 33
  • 72.92 (n)
MGC75889 33
zebrafish
(Danio rerio)
Actinopterygii tmem30aa 34
  • 70 (a)
OneToMany
tmem30ab 34
  • 70 (a)
OneToMany
Dr.3449 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3734 33
fruit fly
(Drosophila melanogaster)
Insecta CG9947 33 34
  • 56.17 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000704 33
  • 52.41 (n)
worm
(Caenorhabditis elegans)
Secernentea chat-1 33
  • 55.15 (n)
W03G11.2 34
  • 20 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YNR048W 33
  • 49.11 (n)
-- 34
  • 32 (a)
ManyToMany
CDC50 34
  • 31 (a)
ManyToMany
LEM3 34
  • 27 (a)
ManyToMany
-- 36
thale cress
(Arabidopsis thaliana)
eudicotyledons ALIS1 33
  • 51.4 (n)
rice
(Oryza sativa)
Liliopsida Os06g0665000 33
  • 52.1 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes mug89 33
  • 51.64 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 50 (a)
OneToMany
bread mold
(Neurospora crassa)
Ascomycetes NCU01165 33
  • 42.83 (n)
Species where no ortholog for TMEM30A was found in the sources mined by GeneCards:
  • 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

(2) 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 Variation AA Info Type
rs1000013993 -- 75,256,978(-) G/A intron_variant
rs1000066275 -- 75,257,266(-) C/T intron_variant
rs1000141936 -- 75,279,634(-) A/G intron_variant
rs1000167542 -- 75,253,743(-) G/T 3_prime_UTR_variant
rs1000335368 -- 75,268,477(-) T/C intron_variant

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

Variant ID Type Subtype PubMed ID
nsv603762 CNV loss 21841781
nsv603763 CNV loss 21841781
nsv603764 CNV loss 21841781
nsv830698 CNV gain 17160897
nsv950470 CNV duplication 24416366

Variation tolerance for TMEM30A Gene

Residual Variation Intolerance Score: 20.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.65; 13.86% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TMEM30A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TMEM30A

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

Disorders for TMEM30A Gene

MalaCards: The human disease database

(1) MalaCards diseases for TMEM30A Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
intrahepatic cholestasis
  • intrahepatic cholestasis of pregnancy
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for TMEM30A

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

No data available for UniProtKB/Swiss-Prot and Genatlas 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 (Oncology reports 2004) 2 3 4 22 58
  2. Human TMEM30a promotes uptake of antitumor and bioactive choline phospholipids into mammalian cells. (PMID: 21289302) Chen R … McIntyre TM (Journal of immunology (Baltimore, Md. : 1950) 2011) 3 4 58
  3. ATP9B, a P4-ATPase (a putative aminophospholipid translocase), localizes to the trans-Golgi network in a CDC50 protein-independent manner. (PMID: 21914794) Takatsu H … Shin HW (The Journal of biological chemistry 2011) 3 4 58
  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 JA … Molday RS (The Journal of biological chemistry 2011) 3 4 58
  5. CDC50A plays a key role in the uptake of the anticancer drug perifosine in human carcinoma cells. (PMID: 20510206) Muñoz-Martínez F … Gamarro F (Biochemical pharmacology 2010) 3 4 58

Products for TMEM30A Gene

Sources for TMEM30A Gene

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