Human Gene PTCD1 (ENST00000292478.9) from GENCODE V44
  Description: Homo sapiens pentatricopeptide repeat domain 1 (PTCD1), mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_015545)
RefSeq Summary (NM_015545): This gene encodes a mitochondrial protein that binds leucine tRNAs and other mitochondrial RNAs and plays a role in the regulation of translation. Increased expression of this gene results in decreased mitochondrial leucine tRNA levels. Naturally occurring read-through transcription exists between upstream ATP5J2 (ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F2) and this gene. [provided by RefSeq, Aug 2015].
Gencode Transcript: ENST00000292478.9
Gencode Gene: ENSG00000106246.18
Transcript (Including UTRs)
   Position: hg38 chr7:99,416,739-99,438,798 Size: 22,060 Total Exon Count: 8 Strand: -
Coding Region
   Position: hg38 chr7:99,419,967-99,435,242 Size: 15,276 Coding Exon Count: 7 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
Other NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr7:99,416,739-99,438,798)mRNA (may differ from genome)Protein (700 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: PTCD1_HUMAN
DESCRIPTION: RecName: Full=Pentatricopeptide repeat-containing protein 1, mitochondrial;
FUNCTION: Mitochondrial protein implicated in negative regulation of leucine tRNA levels, as well as negative regulation of mitochondria-encoded proteins and COX activity. Affects also the 3' processing of mitochondrial tRNAs.
SUBUNIT: Associates with mitochondrial leucine tRNAs. Interacts with ELAC2.
SUBCELLULAR LOCATION: Mitochondrion. Mitochondrion matrix (By similarity).
TISSUE SPECIFICITY: Abundant in testes, skeletal muscle and heart.
SIMILARITY: Belongs to the PTCD1 family.
SIMILARITY: Contains 9 PPR (pentatricopeptide) repeats.
SEQUENCE CAUTION: Sequence=BAA31607.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;

-  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


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 1.58 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 38.99 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 -50.60133-0.380 Picture PostScript Text
3' UTR -1259.003228-0.390 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
IPR002885 - Pentatricopeptide_repeat

Pfam Domains:
PF01535 - PPR repeat

ModBase Predicted Comparative 3D Structure on O75127
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-  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:0000049 tRNA binding
GO:0003723 RNA binding

Biological Process:
GO:0008033 tRNA processing
GO:0042780 tRNA 3'-end processing

Cellular Component:
GO:0005739 mitochondrion
GO:0005759 mitochondrial matrix


-  Descriptions from all associated GenBank mRNAs
  CU692727 - Synthetic construct Homo sapiens gateway clone IMAGE:100021852 3' read BUD31 mRNA.
AB014532 - Homo sapiens KIAA0632 mRNA for KIAA0632 protein.
LF384072 - JP 2014500723-A/191575: Polycomb-Associated Non-Coding RNAs.
MA619649 - JP 2018138019-A/191575: Polycomb-Associated Non-Coding RNAs.
AB073644 - Homo sapiens primary neuroblastoma cDNA, clone:Nbla00100, full insert sequence.
JD517620 - Sequence 498644 from Patent EP1572962.
JD366462 - Sequence 347486 from Patent EP1572962.
JD517619 - Sequence 498643 from Patent EP1572962.
JD105919 - Sequence 86943 from Patent EP1572962.
JD179060 - Sequence 160084 from Patent EP1572962.
JD421443 - Sequence 402467 from Patent EP1572962.
JD179059 - Sequence 160083 from Patent EP1572962.
JD199449 - Sequence 180473 from Patent EP1572962.
JD047557 - Sequence 28581 from Patent EP1572962.
JD238518 - Sequence 219542 from Patent EP1572962.
JD249883 - Sequence 230907 from Patent EP1572962.
JD148326 - Sequence 129350 from Patent EP1572962.
JD463837 - Sequence 444861 from Patent EP1572962.
JD478591 - Sequence 459615 from Patent EP1572962.
JD543277 - Sequence 524301 from Patent EP1572962.
BC080580 - Homo sapiens pentatricopeptide repeat domain 1, mRNA (cDNA clone MGC:99605 IMAGE:6645909), complete cds.
BC024042 - Homo sapiens pentatricopeptide repeat domain 1, mRNA (cDNA clone IMAGE:3356434), partial cds.
BC003688 - Homo sapiens pentatricopeptide repeat domain 1, mRNA (cDNA clone IMAGE:3453948), partial cds.
AK001615 - Homo sapiens cDNA FLJ10753 fis, clone NT2RP3004539, highly similar to Pentatricopeptide repeat protein 1.
JD461246 - Sequence 442270 from Patent EP1572962.
JD049173 - Sequence 30197 from Patent EP1572962.
JD287441 - Sequence 268465 from Patent EP1572962.
JD167429 - Sequence 148453 from Patent EP1572962.
AK295912 - Homo sapiens cDNA FLJ56092 complete cds, highly similar to Pentatricopeptide repeat protein 1.
BC103495 - Homo sapiens pentatricopeptide repeat domain 1, mRNA (cDNA clone MGC:119682 IMAGE:40011658), complete cds.
BC103502 - Homo sapiens pentatricopeptide repeat domain 1, mRNA (cDNA clone MGC:119684 IMAGE:40011661), complete cds.
BC103661 - Homo sapiens pentatricopeptide repeat domain 1, mRNA (cDNA clone IMAGE:40011663), partial cds.
JD381151 - Sequence 362175 from Patent EP1572962.
JD456506 - Sequence 437530 from Patent EP1572962.
JD532805 - Sequence 513829 from Patent EP1572962.
JD317502 - Sequence 298526 from Patent EP1572962.
JD210920 - Sequence 191944 from Patent EP1572962.
JD334813 - Sequence 315837 from Patent EP1572962.
JD442675 - Sequence 423699 from Patent EP1572962.
JD399812 - Sequence 380836 from Patent EP1572962.
AK291004 - Homo sapiens cDNA FLJ76276 complete cds, highly similar to Homo sapiens pentatricopeptide repeat domain 1 (PTCD1), mRNA.
JD338959 - Sequence 319983 from Patent EP1572962.
JD385232 - Sequence 366256 from Patent EP1572962.
JD475330 - Sequence 456354 from Patent EP1572962.
JD485505 - Sequence 466529 from Patent EP1572962.
JD057630 - Sequence 38654 from Patent EP1572962.
AB383927 - Synthetic construct DNA, clone: pF1KSDA0632, Homo sapiens PTCD1 gene for pentatricopeptide repeat protein 1, complete cds, without stop codon, in Flexi system.
KJ898585 - Synthetic construct Homo sapiens clone ccsbBroadEn_07979 PTCD1 gene, encodes complete protein.
KJ904709 - Synthetic construct Homo sapiens clone ccsbBroadEn_14103 PTCD1 gene, encodes complete protein.
LF360136 - JP 2014500723-A/167639: Polycomb-Associated Non-Coding RNAs.
MA595713 - JP 2018138019-A/167639: Polycomb-Associated Non-Coding RNAs.
LF360137 - JP 2014500723-A/167640: Polycomb-Associated Non-Coding RNAs.
MA595714 - JP 2018138019-A/167640: Polycomb-Associated Non-Coding RNAs.
AK307981 - Homo sapiens cDNA, FLJ97929.
LF360138 - JP 2014500723-A/167641: Polycomb-Associated Non-Coding RNAs.
MA595715 - JP 2018138019-A/167641: Polycomb-Associated Non-Coding RNAs.
JD535377 - Sequence 516401 from Patent EP1572962.
JD428680 - Sequence 409704 from Patent EP1572962.
JD310970 - Sequence 291994 from Patent EP1572962.
JD396400 - Sequence 377424 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000292478.1, ENST00000292478.2, ENST00000292478.3, ENST00000292478.4, ENST00000292478.5, ENST00000292478.6, ENST00000292478.7, ENST00000292478.8, KIAA0632, NM_015545, O75127, PTCD1_HUMAN, Q3ZB78, Q66K60, Q9UDV2, uc003uqh.1, uc003uqh.2, uc003uqh.3, uc003uqh.4, uc003uqh.5
UCSC ID: ENST00000292478.9
RefSeq Accession: NM_015545
Protein: O75127 (aka PTCD1_HUMAN)
CCDS: CCDS34691.1

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