Human Gene PTCHD1 (ENST00000379361.5) from GENCODE V44
  Description: Homo sapiens patched domain containing 1 (PTCHD1), mRNA. (from RefSeq NM_173495)
RefSeq Summary (NM_173495): This gene encodes a membrane protein with a patched domain. The encoded protein is similar to Drosophila proteins which act as receptors for the morphogen sonic hedgehog. Deletions in this gene, which is located on the X chromosome, are associated with intellectual disability and autism (PMID: 21091464, PMID: 20844286). [provided by RefSeq, Aug 2011]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data because no single transcript was available for the full length of the gene. The extent of this transcript is supported by transcript alignments.
Gencode Transcript: ENST00000379361.5
Gencode Gene: ENSG00000165186.12
Transcript (Including UTRs)
   Position: hg38 chrX:23,334,849-23,404,374 Size: 69,526 Total Exon Count: 3 Strand: +
Coding Region
   Position: hg38 chrX:23,334,876-23,394,185 Size: 59,310 Coding Exon Count: 3 

Page IndexSequence and LinksPrimersMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureOther SpeciesmRNA DescriptionsOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chrX:23,334,849-23,404,374)mRNA (may differ from genome)Protein (888 aa)
Gene SorterGenome BrowserOther Species FASTATable SchemaAlphaFoldBioGPS
EnsemblEntrez GeneExonPrimerGencodeGeneCardsHGNC
HPRDLynxMalacardsMGIOMIMPubMed
UniProtKBBioGrid CRISPR DB

-  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: PTCHD1
Diseases sorted by gene-association score: autism x-linked 4* (594), autism susceptibility, x-linked 4* (100), pervasive developmental disorder (9), x-linked non-specific intellectual disability* (5), intellectual disability (4), autism spectrum disorder (2)
* = Manually curated disease association

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

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 9.27 RPKM in Brain - Cerebellum
Total median expression: 48.64 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 -1.8027-0.067 Picture PostScript Text
3' UTR -2914.0710189-0.286 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.

-  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 BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsembl   
Protein SequenceProtein SequenceProtein Sequence   
AlignmentAlignmentAlignment   

-  Descriptions from all associated GenBank mRNAs
  BC062344 - Homo sapiens patched domain containing 1, mRNA (cDNA clone IMAGE:6579014), complete cds.
KR025516 - Homo sapiens PTCHD1 isoform mRNA, partial cds, alternatively spliced.
LF211712 - JP 2014500723-A/19215: Polycomb-Associated Non-Coding RNAs.
MA447289 - JP 2018138019-A/19215: Polycomb-Associated Non-Coding RNAs.
AK298796 - Homo sapiens cDNA FLJ56413 complete cds, highly similar to Homo sapiens patched domain containing 1 (PTCHD1), mRNA.
KJ534921 - Homo sapiens clone PTCHD1_iso-B_adult-A02 patched domain containing 1 isoform B (PTCHD1) mRNA, partial cds, alternatively spliced.
KJ535084 - Homo sapiens clone PTCHD1_iso-C_fetal-F09 patched domain containing 1 isoform C (PTCHD1) mRNA, complete cds, alternatively spliced.
KJ535090 - Homo sapiens clone PTCHD1_iso-A_adult-A08 patched domain containing 1 isoform A (PTCHD1) mRNA, complete cds, alternatively spliced.
KR270726 - Homo sapiens PTCHD1 isoform mRNA, complete cds, alternatively spliced.
KP940348 - Homo sapiens PTCHD1 isoform mRNA, partial cds, alternatively spliced.
LF382947 - JP 2014500723-A/190450: Polycomb-Associated Non-Coding RNAs.
MA618524 - JP 2018138019-A/190450: Polycomb-Associated Non-Coding RNAs.
AK054858 - Homo sapiens cDNA FLJ30296 fis, clone BRACE2003110, weakly similar to PATCHED PROTEIN HOMOLOG 1.
BC121061 - Homo sapiens patched domain containing 1, mRNA (cDNA clone MGC:149798 IMAGE:40118449), complete cds.
JD322711 - Sequence 303735 from Patent EP1572962.
JD400192 - Sequence 381216 from Patent EP1572962.
JD123600 - Sequence 104624 from Patent EP1572962.
JD369944 - Sequence 350968 from Patent EP1572962.
JD163330 - Sequence 144354 from Patent EP1572962.
JD091810 - Sequence 72834 from Patent EP1572962.
JD558404 - Sequence 539428 from Patent EP1572962.
JD320266 - Sequence 301290 from Patent EP1572962.
JD112111 - Sequence 93135 from Patent EP1572962.
JD488592 - Sequence 469616 from Patent EP1572962.
AK126657 - Homo sapiens cDNA FLJ44701 fis, clone BRACE3016170.

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000379361.1, ENST00000379361.2, ENST00000379361.3, ENST00000379361.4, NM_173495, uc004dal.1, uc004dal.2, uc004dal.3, uc004dal.4, uc004dal.5, uc004dal.6, X5DNX9
UCSC ID: ENST00000379361.5
RefSeq Accession: NM_173495
CCDS: CCDS35215.2

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