Human Gene PIH1D1 (ENST00000262265.10_7) from GENCODE V47lift37
  Description: PIH1 domain containing 1 (from RefSeq NM_017916.3)
Gencode Transcript: ENST00000262265.10_7
Gencode Gene: ENSG00000104872.12_16
Transcript (Including UTRs)
   Position: hg19 chr19:49,949,555-49,955,071 Size: 5,517 Total Exon Count: 9 Strand: -
Coding Region
   Position: hg19 chr19:49,949,639-49,954,831 Size: 5,193 Coding Exon Count: 9 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:49,949,555-49,955,071)mRNA (may differ from genome)Protein (290 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMGIOMIMPubMedUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: PIHD1_HUMAN
DESCRIPTION: RecName: Full=PIH1 domain-containing protein 1; AltName: Full=Nucleolar protein 17 homolog;
SIMILARITY: Belongs to the PIH1 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


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

+  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: 37.49 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 1149.43 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 -76.60240-0.319 Picture PostScript Text
3' UTR -15.7084-0.187 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
IPR012981 - PIH

Pfam Domains:
PF08190 - PIH1 N-terminal domain
PF18201 - PIH1 CS-like domain

ModBase Predicted Comparative 3D Structure on Q9NWS0
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 DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0001164 RNA polymerase I CORE element sequence-specific DNA binding
GO:0005515 protein binding
GO:0019901 protein kinase binding
GO:0042393 histone binding
GO:0051117 ATPase binding
GO:0051219 phosphoprotein binding
GO:0001165 RNA polymerase I upstream control element sequence-specific DNA binding

Biological Process:
GO:0000492 box C/D snoRNP assembly
GO:0001188 RNA polymerase I transcriptional preinitiation complex assembly
GO:0006338 chromatin remodeling
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006364 rRNA processing
GO:0030855 epithelial cell differentiation
GO:0031334 positive regulation of protein complex assembly
GO:0048254 snoRNA localization
GO:0051569 regulation of histone H3-K4 methylation
GO:0071169 establishment of protein localization to chromatin
GO:0071902 positive regulation of protein serine/threonine kinase activity
GO:0090240 positive regulation of histone H4 acetylation
GO:1900110 negative regulation of histone H3-K9 dimethylation
GO:1900113 negative regulation of histone H3-K9 trimethylation
GO:1901838 positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter
GO:1902661 positive regulation of glucose mediated signaling pathway
GO:1904263 positive regulation of TORC1 signaling
GO:2000617 positive regulation of histone H3-K9 acetylation
GO:2000619 negative regulation of histone H4-K16 acetylation
GO:2001268 negative regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway
GO:1903939 regulation of TORC2 signaling

Cellular Component:
GO:0005634 nucleus
GO:0005730 nucleolus
GO:0005737 cytoplasm
GO:0070761 pre-snoRNP complex
GO:0097255 R2TP complex


-  Descriptions from all associated GenBank mRNAs
  LF207661 - JP 2014500723-A/15164: Polycomb-Associated Non-Coding RNAs.
BC001108 - Homo sapiens PIH1 domain containing 1, mRNA (cDNA clone MGC:1014 IMAGE:2966990), complete cds.
AK000650 - Homo sapiens cDNA FLJ20643 fis, clone KAT02633.
HQ447246 - Synthetic construct Homo sapiens clone IMAGE:100070552; CCSB006086_01 PIH1 domain containing 1 (PIH1D1) gene, encodes complete protein.
KJ899058 - Synthetic construct Homo sapiens clone ccsbBroadEn_08452 PIH1D1 gene, encodes complete protein.
EU832754 - Synthetic construct Homo sapiens clone HAIB:100067783; DKFZo004H0932 PIH1 domain containing 1 protein (PIH1D1) gene, encodes complete protein.
AB464024 - Synthetic construct DNA, clone: pF1KB6340, Homo sapiens PIH1D1 gene for PIH1 domain containing 1, without stop codon, in Flexi system.
CU674558 - Synthetic construct Homo sapiens gateway clone IMAGE:100018079 5' read PIH1D1 mRNA.
AK304476 - Homo sapiens cDNA FLJ52063 complete cds.
JD026670 - Sequence 7694 from Patent EP1572962.
JD029010 - Sequence 10034 from Patent EP1572962.
AK294687 - Homo sapiens cDNA FLJ57486 complete cds.
LF367784 - JP 2014500723-A/175287: Polycomb-Associated Non-Coding RNAs.
JD389104 - Sequence 370128 from Patent EP1572962.
JD074615 - Sequence 55639 from Patent EP1572962.
JD394744 - Sequence 375768 from Patent EP1572962.
JD313825 - Sequence 294849 from Patent EP1572962.
MA603361 - JP 2018138019-A/175287: Polycomb-Associated Non-Coding RNAs.
MA443238 - JP 2018138019-A/15164: Polycomb-Associated Non-Coding RNAs.

-  Other Names for This Gene
  Alternate Gene Symbols: B4DGN7, B4E2X7, ENST00000262265.1, ENST00000262265.2, ENST00000262265.3, ENST00000262265.4, ENST00000262265.5, ENST00000262265.6, ENST00000262265.7, ENST00000262265.8, ENST00000262265.9, NM_017916, NOP17, PIHD1_HUMAN, Q9BVL0, Q9NWS0, uc317gyl.1, uc317gyl.2
UCSC ID: ENST00000262265.10_7
RefSeq Accession: NM_017916.3
Protein: Q9NWS0 (aka PIHD1_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.