Human Gene PET117 (uc021wba.1)
  Description: Homo sapiens PET117 homolog (S. cerevisiae) (PET117), mRNA.
Transcript (Including UTRs)
   Position: hg19 chr20:18,118,499-18,123,812 Size: 5,314 Total Exon Count: 2 Strand: +
Coding Region
   Position: hg19 chr20:18,118,600-18,123,001 Size: 4,402 Coding Exon Count: 2 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr20:18,118,499-18,123,812)mRNA (may differ from genome)Protein (81 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsHGNC
LynxMalacardsMGIneXtProtOMIMPubMed
UniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: PT117_HUMAN
DESCRIPTION: RecName: Full=Protein PET117 homolog, mitochondrial; Flags: Precursor;
SUBCELLULAR LOCATION: Mitochondrion.
SIMILARITY: Belongs to the PET117 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: PET117
Diseases sorted by gene-association score: mitochondrial complex iv deficiency* (78)
* = Manually curated disease association

+  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: 4.49 RPKM in Adrenal Gland
Total median expression: 148.22 RPKM



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

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -47.40101-0.469 Picture PostScript Text
3' UTR -246.66811-0.304 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:
PF15786 - PET assembly of cytochrome c oxidase, mitochondrial

ModBase Predicted Comparative 3D Structure on Q6UWS5
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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
No orthologNo orthologGenome BrowserGenome BrowserNo orthologGenome Browser
   Gene Details Gene Details
   Gene Sorter Gene Sorter
  EnsemblFlyBase SGD
  Protein SequenceProtein Sequence Protein Sequence
  AlignmentAlignment Alignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Biological Process:
GO:0033617 mitochondrial respiratory chain complex IV assembly

Cellular Component:
GO:0005739 mitochondrion


-  Descriptions from all associated GenBank mRNAs
  JD408548 - Sequence 389572 from Patent EP1572962.
JD064134 - Sequence 45158 from Patent EP1572962.
AY358666 - Homo sapiens clone DNA57841 CSRP2BP (UNQ607) mRNA, complete cds.
JD523908 - Sequence 504932 from Patent EP1572962.
JD193293 - Sequence 174317 from Patent EP1572962.
JD289392 - Sequence 270416 from Patent EP1572962.
BC007537 - Homo sapiens CSRP2 binding protein, mRNA (cDNA clone MGC:15388 IMAGE:3350378), complete cds.
JD565832 - Sequence 546856 from Patent EP1572962.
JD432976 - Sequence 414000 from Patent EP1572962.
JD060047 - Sequence 41071 from Patent EP1572962.
KJ894417 - Synthetic construct Homo sapiens clone ccsbBroadEn_03811 CSRP2BP gene, encodes complete protein.
CU675693 - Synthetic construct Homo sapiens gateway clone IMAGE:100020573 5' read CSRP2BP mRNA.
AB527817 - Synthetic construct DNA, clone: pF1KB5707, Homo sapiens CSRP2BP gene for CSRP2 binding protein, without stop codon, in Flexi system.
DQ893510 - Synthetic construct clone IMAGE:100006140; FLH194995.01X; RZPDo839H0380D CSRP2 binding protein (CSRP2BP) gene, encodes complete protein.
DQ896507 - Synthetic construct Homo sapiens clone IMAGE:100010967; FLH194991.01L; RZPDo839H0370D CSRP2 binding protein (CSRP2BP) gene, encodes complete protein.

-  Other Names for This Gene
  Alternate Gene Symbols: NM_001164811, NP_001158283, PT117_HUMAN, Q6UWS5, UNQ607/PRO1194
UCSC ID: uc021wba.1
RefSeq Accession: NM_001164811
Protein: Q6UWS5 (aka PT117_HUMAN)
CCDS: CCDS54450.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001164811.1
exon count: 2CDS single in 3' UTR: no RNA size: 1174
ORF size: 246CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 692.00frame shift in genome: no % Coverage: 98.64
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.