Human Gene TMEM54 (uc001bwk.1)
  Description: Homo sapiens transmembrane protein 54 (TMEM54), mRNA.
Transcript (Including UTRs)
   Position: hg19 chr1:33,360,196-33,366,953 Size: 6,758 Total Exon Count: 5 Strand: -
Coding Region
   Position: hg19 chr1:33,360,406-33,366,839 Size: 6,434 Coding Exon Count: 5 

Page IndexSequence and LinksPrimersMalaCardsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesmRNA Descriptions
Other NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:33,360,196-33,366,953)mRNA (may differ from genome)Protein (202 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblExonPrimerGeneCardsGeneNetwork
H-INVHGNCLynxMalacardsMGIPubMed
TreefamUniProtKB

-  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: TMEM54
Diseases sorted by gene-association score: cleft palate, isolated (4), orofacial cleft (2), physical disorder (2), hard palate cancer (2), tooth agenesis (1)

-  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: 147.86 RPKM in Colon - Transverse
Total median expression: 1102.32 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 -65.20114-0.572 Picture PostScript Text
3' UTR -68.30210-0.325 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
  Pfam Domains:
PF12304 - Beta-casein like protein

ModBase Predicted Comparative 3D Structure on Q969K7-2
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 orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
      
      
      

-  Descriptions from all associated GenBank mRNAs
  BC020497 - Homo sapiens transmembrane protein 54, mRNA (cDNA clone IMAGE:3902890), **** WARNING: chimeric clone ****.
BC001418 - Homo sapiens transmembrane protein 54, mRNA (cDNA clone MGC:2583 IMAGE:3140820), complete cds.
BC013953 - Homo sapiens transmembrane protein 54, mRNA (cDNA clone MGC:2853 IMAGE:2987806), complete cds.
BC023260 - Homo sapiens transmembrane protein 54, mRNA (cDNA clone MGC:25002 IMAGE:4213210), complete cds.
AY027543 - Homo sapiens beta-casein-like protein (BCLP) mRNA, complete cds.
JD485247 - Sequence 466271 from Patent EP1572962.
JD544229 - Sequence 525253 from Patent EP1572962.
JD498753 - Sequence 479777 from Patent EP1572962.
AB012692 - Homo sapiens CAC-1 mRNA, partial cds.
JD443662 - Sequence 424686 from Patent EP1572962.
AY359883 - Homo sapiens CAC1 (CAC1) mRNA, complete cds; alternatively spliced.
KJ904959 - Synthetic construct Homo sapiens clone ccsbBroadEn_14353 TMEM54 gene, encodes complete protein.
JD173609 - Sequence 154633 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: AY359883, BCLP, CAC1, Q969K7-2
UCSC ID: uc001bwk.1
RefSeq Accession: NM_033504
Protein: Q969K7-2, splice isoform of Q969K7

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: AY359883.1
exon count: 5CDS single in 3' UTR: no RNA size: 609
ORF size: 609CDS single in intron: no Alignment % ID: 99.84
txCdsPredict score: 1101.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
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.