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PIH1D1 Gene(Protein Coding)

PIH1 Domain Containing 1

GCID:
GC19M049447
GIFtS:
44
Genes Participants
UDN Logo

Aliases for PIH1D1 Gene

Aliases for PIH1D1 Gene

  • PIH1 Domain Containing 1 2 3 5
  • Nucleolar Protein 17 Homolog 3 4
  • NOP17 3 4
  • PIH1 Domain-Containing Protein 1 3

External Ids for PIH1D1 Gene

Previous HGNC Symbols for PIH1D1 Gene

  • NOP17

Previous GeneCards Identifiers for PIH1D1 Gene

  • GC19M054644
  • GC19M049949
  • GC19M046326

Summaries for PIH1D1 Gene

GeneCards Summary for PIH1D1 Gene

PIH1D1 (PIH1 Domain Containing 1) is a Protein Coding gene.

UniProtKB/Swiss-Prot for PIH1D1 Gene

  • Involved in the assembly of C/D box small nucleolar ribonucleoprotein (snoRNP) particles (PubMed:17636026). Recruits the SWI/SNF complex to the core promoter of rRNA genes and enhances pre-rRNA transcription (PubMed:22368283, PubMed:24036451). Mediates interaction of TELO2 with the R2TP complex which is necessary for the stability of MTOR and SMG1 (PubMed:20864032). Positively regulates the assembly and activity of the mTORC1 complex (PubMed:24036451).

Additional gene information for PIH1D1 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PIH1D1 Gene

Genomics for PIH1D1 Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for PIH1D1 Gene

Promoters and enhancers for PIH1D1 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH19I049450 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 562.4 +0.7 685 4.7 MLX FEZF1 DMAP1 YY1 ZNF213 E2F8 ZNF143 SP3 NFYC ZNF610 ALDH16A1 PIH1D1 BAX POLD1 IRF3 SNORD35A SNORD35B NUP62 PNKP FLT3LG
GH19I048958 Promoter/Enhancer 2.9 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 45.7 +489.5 489468 10.2 MLX ZFP64 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 ZNF263 FTL GC19P048967 GC19P048966 ENSG00000267898 NUP62 PTOV1-AS2 IRF3 PRR12 SNORD35A SNORD35B
GH19I048871 Promoter/Enhancer 2.6 EPDnew Ensembl ENCODE dbSUPER 49.4 +577.5 577482 8.8 FEZF1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 MEF2D SSRP1 GC19M048876 PPP1R15A PRR12 SNRNP70 IRF3 GRWD1 SNORD35A PTOV1-AS2 SNORD35B PIH1D1
GH19I048612 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 50.8 +836.7 836735 7.8 CLOCK ZFP64 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 RPL18 FAM83E SPHK2 PIR55128 PRR12 PIH1D1 SNORD35A SNORD35B ALDH16A1 KDELR1
GH19I048780 Enhancer 1.5 Ensembl ENCODE dbSUPER 71.3 +671.8 671787 2.9 HDGF PKNOX1 FOXA2 ARNT ZFP64 ARID4B ZNF766 ZNF213 ZNF143 FOS PRR12 SNRNP70 PIH1D1 GRWD1 SNORD35A IRF3 CYTH2 SNORD35B CPT1C ALDH16A1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PIH1D1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PIH1D1 gene promoter:

Genomic Locations for PIH1D1 Gene

Genomic Locations for PIH1D1 Gene
chr19:49,446,293-49,453,497
(GRCh38/hg38)
Size:
7,205 bases
Orientation:
Minus strand
chr19:49,949,550-49,956,754
(GRCh37/hg19)

Genomic View for PIH1D1 Gene

Genes around PIH1D1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PIH1D1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PIH1D1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for PIH1D1 Gene

Proteins for PIH1D1 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for PIH1D1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NWS0-PIHD1_HUMAN
    Recommended name:
    PIH1 domain-containing protein 1
    Protein Accession:
    Q9NWS0
    Secondary Accessions:
    • B4DGN7
    • B4E2X7
    • Q9BVL0

    Protein attributes for PIH1D1 Gene

    Size:
    290 amino acids
    Molecular mass:
    32363 Da
    Quaternary structure:
    • Component of the R2TP complex composed at least of PIHD1, RUVBL1, RUVBL2 and RPAP3 (PubMed:20864032). Interacts with phosphorylated TELO2 and mediates interaction of TELO2 with the R2TP complex (PubMed:20864032, PubMed:24656813). Interacts with phosphorylated ECD, EFTUD2/SNRP116, RPB1 and UBR5 and with RPB1 in a phosphorylation-independent manner (PubMed:24656813). Interacts with the core C/D box snoRNP particle components NOP58 and FBL and with RUVBL1/TIP49 (PubMed:17636026). Interacts with RPAP3 and WDR92 (PubMed:21078300). Interacts with histone H4 and with SWI/SNF complex member SMARCB1/SNF5 (PubMed:22368283). Interacts with the mTORC1 complex member RPTOR (PubMed:24036451).

    Three dimensional structures from OCA and Proteopedia for PIH1D1 Gene

    Alternative splice isoforms for PIH1D1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PIH1D1 Gene

Protein Expression for PIH1D1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for PIH1D1 Gene

  • Ubiquitination at isoforms=87
  • Modification sites at PhosphoSitePlus

Other Protein References for PIH1D1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PIH1D1 Gene

Domains & Families for PIH1D1 Gene

Gene Families for PIH1D1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for PIH1D1 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for PIH1D1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9NWS0

UniProtKB/Swiss-Prot:

PIHD1_HUMAN :
  • The N-terminal region is required for binding to phosphorylated substrates while the C-terminal region binds to the other R2TP complex components.
  • Belongs to the PIH1 family.
Domain:
  • The N-terminal region is required for binding to phosphorylated substrates while the C-terminal region binds to the other R2TP complex components.
Family:
  • Belongs to the PIH1 family.
genes like me logo Genes that share domains with PIH1D1: view

Function for PIH1D1 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for PIH1D1 Gene

UniProtKB/Swiss-Prot Function:
Involved in the assembly of C/D box small nucleolar ribonucleoprotein (snoRNP) particles (PubMed:17636026). Recruits the SWI/SNF complex to the core promoter of rRNA genes and enhances pre-rRNA transcription (PubMed:22368283, PubMed:24036451). Mediates interaction of TELO2 with the R2TP complex which is necessary for the stability of MTOR and SMG1 (PubMed:20864032). Positively regulates the assembly and activity of the mTORC1 complex (PubMed:24036451).

Phenotypes From GWAS Catalog for PIH1D1 Gene

Gene Ontology (GO) - Molecular Function for PIH1D1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001164 RNA polymerase I CORE element sequence-specific DNA binding IMP 22368283
GO:0001165 NOT RNA polymerase I upstream control element sequence-specific DNA binding IDA 22368283
GO:0005515 protein binding IPI 16189514
GO:0019901 protein kinase binding IPI 24036451
GO:0042393 histone binding IPI 22368283
genes like me logo Genes that share ontologies with PIH1D1: view
genes like me logo Genes that share phenotypes with PIH1D1: view

Animal Model Products

miRNA for PIH1D1 Gene

miRTarBase miRNAs that target PIH1D1

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PIH1D1 Gene

Localization for PIH1D1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PIH1D1 gene
Compartment Confidence
nucleus 5
cytosol 3

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PIH1D1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 22368283
GO:0005730 nucleolus IDA 22368283
GO:0005737 cytoplasm IDA 22368283
GO:0070761 pre-snoRNP complex IDA 17636026
GO:0097255 R2TP complex IDA 21078300
genes like me logo Genes that share ontologies with PIH1D1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for PIH1D1 Gene

Pathways & Interactions for PIH1D1 Gene

SuperPathways for PIH1D1 Gene

PathCards logo More details on SuperPathways for PIH1D1
No Data Available

Gene Ontology (GO) - Biological Process for PIH1D1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000492 box C/D snoRNP assembly IMP 17636026
GO:0006338 chromatin remodeling IMP 22368283
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006364 rRNA processing IBA --
genes like me logo Genes that share ontologies with PIH1D1: view

No data available for Pathways by source and SIGNOR curated interactions for PIH1D1 Gene

Drugs & Compounds for PIH1D1 Gene

Products:

  1. Drug
No Compound Related Data Available

Transcripts for PIH1D1 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for PIH1D1 Gene

(2) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(547) Selected AceView cDNA sequences:
(24) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for PIH1D1 Gene

PIH1 domain containing 1:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PIH1D1 Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f · 1g · 1h · 1i ^ 2 ^ 3 ^ 4a · 4b · 4c · 4d ^ 5a · 5b ^ 6 ^ 7a · 7b · 7c · 7d · 7e ^ 8 ^ 9 ^ 10 ^
SP1: - - - - - - -
SP2: - - - - - - - -
SP3: - - - -
SP4: - - - - -
SP5: - - -
SP6: - - -
SP7: - - -
SP8: - -
SP9: -
SP10:
SP11:

ExUns: 11
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:

Relevant External Links for PIH1D1 Gene

GeneLoc Exon Structure for
PIH1D1
ECgene alternative splicing isoforms for
PIH1D1

Expression for PIH1D1 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PIH1D1 Gene

mRNA expression in normal human tissues for PIH1D1 Gene
mRNA expression by GTEx for PIH1D1 GenemRNA expression by BioGPS for PIH1D1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PIH1D1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (10.6), Breast (9.9), Lymph node (9.8), and Pancreas (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PIH1D1 Gene



Protein tissue co-expression partners for PIH1D1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PIH1D1 Gene:

PIH1D1

SOURCE GeneReport for Unigene cluster for PIH1D1 Gene:

Hs.5245

mRNA Expression by UniProt/SwissProt for PIH1D1 Gene:

Q9NWS0-PIHD1_HUMAN
Tissue specificity: Expressed at low levels in normal mammary epithelial cells (at protein level) (PubMed:24036451). Highest expression in lung, leukocyte and placenta. Expressed at lower levels in brain, prostate, colon, heart, small intestine, liver, ovary, pancreas, skeletal muscle, spleen, testis and thymus (PubMed:21078300).

Evidence on tissue expression from TISSUES for PIH1D1 Gene

  • Nervous system(4.7)
  • Skin(4.6)
  • Lung(3.2)
  • Eye(3)
  • Pancreas(2.2)
genes like me logo Genes that share expression patterns with PIH1D1: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for PIH1D1 Gene

Orthologs for PIH1D1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for PIH1D1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia PIH1D1 33 34
  • 99.11 (n)
dog
(Canis familiaris)
 Mammalia PIH1D1 33 34
  • 89.08 (n)
cow
(Bos Taurus)
 Mammalia PIH1D1 33 34
  • 87.36 (n)
rat
(Rattus norvegicus)
 Mammalia Pih1d1 33
  • 81.61 (n)
mouse
(Mus musculus)
 Mammalia Pih1d1 33 16 34
  • 81.03 (n)
oppossum
(Monodelphis domestica)
 Mammalia PIH1D1 34
  • 55 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia PIH1D1 34
  • 51 (a)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia PIH1D1 34
  • 43 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia pih1d1 33
  • 53.16 (n)
zebrafish
(Danio rerio)
 Actinopterygii pih1d1 33 34
  • 52.62 (n)
fruit fly
(Drosophila melanogaster)
 Insecta CG5792 33
  • 46.69 (n)
worm
(Caenorhabditis elegans)
 Secernentea F32D8.4 34
  • 24 (a)
 OneToOne
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes PIH1 36
sea squirt
(Ciona savignyi)
 Ascidiacea -- 34
  • 30 (a)
 OneToOne
Species where no ortholog for PIH1D1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PIH1D1 Gene

ENSEMBL:
Gene Tree for PIH1D1 (if available)
TreeFam:
Gene Tree for PIH1D1 (if available)

Paralogs for PIH1D1 Gene

No data available for Paralogs for PIH1D1 Gene

Variants for PIH1D1 Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for PIH1D1 Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs1000550973 -- 49,451,804(-) G/ 5_prime_UTR_variant, genic_upstream_transcript_variant, non_coding_transcript_variant, upstream_transcript_variant
rs1000594040 -- 49,446,686(-) G/A coding_sequence_variant, non_coding_transcript_variant, synonymous_variant
rs1001046406 -- 49,447,006(-) C/T intron_variant
rs1001156061 -- 49,450,356(-) G/A intron_variant
rs1001831143 -- 49,447,613(-) C/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for PIH1D1 Gene

Variant ID Type Subtype PubMed ID
dgv52n68 CNV loss 17160897
nsv833862 CNV loss 17160897
nsv953599 CNV deletion 24416366
nsv9739 CNV gain+loss 18304495

Variation tolerance for PIH1D1 Gene

Residual Variation Intolerance Score: 62.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.09; 75.40% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PIH1D1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PIH1D1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PIH1D1 Gene

Disorders for PIH1D1 Gene

Additional Disease Information for PIH1D1

ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for PIH1D1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PIH1D1 Gene

Publications for PIH1D1 Gene

  1. Phosphorylation-dependent PIH1D1 interactions define substrate specificity of the R2TP cochaperone complex. (PMID: 24656813) Hořejší Z … Boulton SJ (Cell reports 2014) 3 4 58
  2. PIH1D1 interacts with mTOR complex 1 and enhances ribosome RNA transcription. (PMID: 24036451) Kamano Y … Kamisaki Y (FEBS letters 2013) 3 4 58
  3. Human PIH1 associates with histone H4 to mediate the glucose-dependent enhancement of pre-rRNA synthesis. (PMID: 22368283) Zhai N … Shen YF (Journal of molecular cell biology 2012) 3 4 58
  4. CK2 phospho-dependent binding of R2TP complex to TEL2 is essential for mTOR and SMG1 stability. (PMID: 20864032) Horejsí Z … Boulton SJ (Molecular cell 2010) 3 4 58
  5. PIH1D1, a subunit of R2TP complex, inhibits doxorubicin-induced apoptosis. (PMID: 21078300) Inoue M … Kamisaki Y (Biochemical and biophysical research communications 2010) 3 4 58

Products for PIH1D1 Gene

Sources for PIH1D1 Gene

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