Human Gene TMEM30A (ENST00000230461.11) from GENCODE V44
  Description: Homo sapiens transmembrane protein 30A (TMEM30A), transcript variant 1, mRNA. (from RefSeq NM_018247)
Gencode Transcript: ENST00000230461.11
Gencode Gene: ENSG00000112697.17
Transcript (Including UTRs)
   Position: hg38 chr6:75,252,924-75,284,792 Size: 31,869 Total Exon Count: 7 Strand: -
Coding Region
   Position: hg38 chr6:75,256,102-75,284,638 Size: 28,537 Coding Exon Count: 7 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr6:75,252,924-75,284,792)mRNA (may differ from genome)Protein (361 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: CC50A_HUMAN
DESCRIPTION: RecName: Full=Cell cycle control protein 50A; AltName: Full=Transmembrane protein 30A;
SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein (Potential).
SIMILARITY: Belongs to the CDC50/LEM3 family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: TMEM30A
Diseases sorted by gene-association score: intrahepatic cholestasis (3)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 56.04 RPKM in Artery - Aorta
Total median expression: 1632.92 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -82.40154-0.535 Picture PostScript Text
3' UTR -773.103178-0.243 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR005045 - DUF284_TM_euk

Pfam Domains:
PF03381 - LEM3 (ligand-effect modulator 3) family / CDC50 family

ModBase Predicted Comparative 3D Structure on Q9NV96
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserGenome BrowserGenome BrowserNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsemblEnsembl  
Protein SequenceProtein SequenceProtein SequenceProtein Sequence  
AlignmentAlignmentAlignmentAlignment  

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0015247 aminophospholipid transporter activity

Biological Process:
GO:0006855 drug transmembrane transport
GO:0006869 lipid transport
GO:0010976 positive regulation of neuron projection development
GO:0015914 phospholipid transport
GO:0015917 aminophospholipid transport
GO:0036010 protein localization to endosome
GO:0043312 neutrophil degranulation
GO:0045332 phospholipid translocation
GO:0070863 positive regulation of protein exit from endoplasmic reticulum

Cellular Component:
GO:0005783 endoplasmic reticulum
GO:0005794 Golgi apparatus
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0016324 apical plasma membrane
GO:0030658 transport vesicle membrane
GO:0031410 cytoplasmic vesicle
GO:0035577 azurophil granule membrane
GO:0035579 specific granule membrane


-  Descriptions from all associated GenBank mRNAs
  AL832815 - Homo sapiens mRNA; cDNA DKFZp667B0324 (from clone DKFZp667B0324).
AL162046 - Homo sapiens mRNA; cDNA DKFZp761K1115 (from clone DKFZp761K1115).
AL832490 - Homo sapiens mRNA; cDNA DKFZp686K1722 (from clone DKFZp686K1722).
AJ420517 - Homo sapiens mRNA full length insert cDNA clone EUROIMAGE 1893706.
AK001718 - Homo sapiens cDNA FLJ10856 fis, clone NT2RP4001547.
JD501897 - Sequence 482921 from Patent EP1572962.
JD090063 - Sequence 71087 from Patent EP1572962.
JD349298 - Sequence 330322 from Patent EP1572962.
JD289941 - Sequence 270965 from Patent EP1572962.
JD436337 - Sequence 417361 from Patent EP1572962.
JD530159 - Sequence 511183 from Patent EP1572962.
JD381492 - Sequence 362516 from Patent EP1572962.
JD350332 - Sequence 331356 from Patent EP1572962.
JD549285 - Sequence 530309 from Patent EP1572962.
BC009006 - Homo sapiens transmembrane protein 30A, mRNA (cDNA clone MGC:16987 IMAGE:4154200), complete cds.
JD284965 - Sequence 265989 from Patent EP1572962.
JD566587 - Sequence 547611 from Patent EP1572962.
JD305757 - Sequence 286781 from Patent EP1572962.
JD173184 - Sequence 154208 from Patent EP1572962.
JD273690 - Sequence 254714 from Patent EP1572962.
JD536026 - Sequence 517050 from Patent EP1572962.
AK292823 - Homo sapiens cDNA FLJ76471 complete cds, highly similar to Homo sapiens transmembrane protein 30A, mRNA.
JD283588 - Sequence 264612 from Patent EP1572962.
AK295567 - Homo sapiens cDNA FLJ55687 complete cds, highly similar to Cell cycle control protein 50A.
JD538544 - Sequence 519568 from Patent EP1572962.
AK022883 - Homo sapiens cDNA FLJ12821 fis, clone NT2RP2002740.
AK293225 - Homo sapiens cDNA FLJ53706 complete cds, highly similar to Cell cycle control protein 50A.
JD085028 - Sequence 66052 from Patent EP1572962.
HQ447873 - Synthetic construct Homo sapiens clone IMAGE:100071223; CCSB000351_01 transmembrane protein 30A (TMEM30A) gene, encodes complete protein.
KJ894255 - Synthetic construct Homo sapiens clone ccsbBroadEn_03649 TMEM30A gene, encodes complete protein.
CU679225 - Synthetic construct Homo sapiens gateway clone IMAGE:100018941 5' read TMEM30A mRNA.
JD210350 - Sequence 191374 from Patent EP1572962.
JD211259 - Sequence 192283 from Patent EP1572962.
JD411241 - Sequence 392265 from Patent EP1572962.
JD465076 - Sequence 446100 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9NV96 (Reactome details) participates in the following event(s):

R-HSA-6798739 Exocytosis of azurophil granule membrane proteins
R-HSA-6799350 Exocytosis of specific granule membrane proteins
R-HSA-6798695 Neutrophil degranulation
R-HSA-168249 Innate Immune System
R-HSA-168256 Immune System

-  Other Names for This Gene
  Alternate Gene Symbols: A8K9V8, C6orf67, CC50A_HUMAN, CDC50A, E1P539, ENST00000230461.1, ENST00000230461.10, ENST00000230461.2, ENST00000230461.3, ENST00000230461.4, ENST00000230461.5, ENST00000230461.6, ENST00000230461.7, ENST00000230461.8, ENST00000230461.9, NM_018247, Q658Z3, Q96H09, Q9NSL9, Q9NV96, uc003phw.1, uc003phw.2, uc003phw.3, uc003phw.4
UCSC ID: ENST00000230461.11
RefSeq Accession: NM_018247
Protein: Q9NV96 (aka CC50A_HUMAN)
CCDS: CCDS4983.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.