Human Gene TMEM147 (ENST00000222284.10_4) from GENCODE V47lift37
  Description: transmembrane protein 147, transcript variant 1 (from RefSeq NM_032635.4)
Gencode Transcript: ENST00000222284.10_4
Gencode Gene: ENSG00000105677.12_7
Transcript (Including UTRs)
   Position: hg19 chr19:36,036,528-36,038,428 Size: 1,901 Total Exon Count: 7 Strand: +
Coding Region
   Position: hg19 chr19:36,036,642-36,038,349 Size: 1,708 Coding Exon Count: 7 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:36,036,528-36,038,428)mRNA (may differ from genome)Protein (224 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: TM147_HUMAN
DESCRIPTION: RecName: Full=Transmembrane protein 147; AltName: Full=Protein NIFIE 14;
SUBUNIT: Forms a complex with NCLN and NOMO2, resulting in a stabilization of the 3 proteins, which are otherwise quickly degraded by the proteasome. Due to the strong similarity between NOMO1, NOMO2 and NOMO3, probably also interacts with NOMO1 and NOMO3.
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Multi-pass membrane protein.

-  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: TMEM147
Diseases sorted by gene-association score: cystinosis (12)

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

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 93.43 RPKM in Adrenal Gland
Total median expression: 2338.68 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 -59.80114-0.525 Picture PostScript Text
3' UTR -12.0079-0.152 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
IPR019164 - DUF2053_membrane

Pfam Domains:
PF09767 - Predicted membrane protein (DUF2053)

ModBase Predicted Comparative 3D Structure on Q9BVK8
FrontTopSide
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
No orthologNo orthologNo orthologNo orthologGenome BrowserNo ortholog
Gene DetailsGene Details Gene DetailsGene Details 
Gene SorterGene Sorter Gene SorterGene Sorter 
 RGDEnsembl WormBase 
    Protein Sequence 
    Alignment 

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

Cellular Component:
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0032991 macromolecular complex


-  Descriptions from all associated GenBank mRNAs
  Y18007 - Homo sapiens mRNA for putative seven transmembrane domain protein.
BC001118 - Homo sapiens transmembrane protein 147, mRNA (cDNA clone MGC:1936 IMAGE:2989840), complete cds.
JD141523 - Sequence 122547 from Patent EP1572962.
CU674562 - Synthetic construct Homo sapiens gateway clone IMAGE:100018053 5' read TMEM147 mRNA.
KJ893033 - Synthetic construct Homo sapiens clone ccsbBroadEn_02427 TMEM147 gene, encodes complete protein.
JD295661 - Sequence 276685 from Patent EP1572962.
JD512279 - Sequence 493303 from Patent EP1572962.
JD325123 - Sequence 306147 from Patent EP1572962.
JD404147 - Sequence 385171 from Patent EP1572962.
JD149728 - Sequence 130752 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: A8MWW0, ENST00000222284.1, ENST00000222284.2, ENST00000222284.3, ENST00000222284.4, ENST00000222284.5, ENST00000222284.6, ENST00000222284.7, ENST00000222284.8, ENST00000222284.9, NM_032635, O75790, Q9BVK8, TM147_HUMAN, TMEM147 , uc317dee.1, uc317dee.2
UCSC ID: ENST00000222284.10_4
RefSeq Accession: NM_032635.4
Protein: Q9BVK8 (aka TM147_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

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