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PIH1D1 (PIH1 domain containing 1)

Identity

Alias_namesNOP17
Alias_symbol (synonym)FLJ20643
Other alias
HGNC (Hugo) PIH1D1
LocusID (NCBI) 55011
Atlas_Id 71913
Location 19q13.33  [Link to chromosome band 19q13]
Location_base_pair Starts at 49446293 and ends at 49451858 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
PIH1D1 (19q13.33) / ALDH16A1 (19q13.33)PIH1D1 (19q13.33) / CD44 (11p13)POLR2F (22q13.1) / PIH1D1 (19q13.33)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)PIH1D1   26075
Cards
Entrez_Gene (NCBI)PIH1D1  55011  PIH1 domain containing 1
AliasesNOP17
GeneCards (Weizmann)PIH1D1
Ensembl hg19 (Hinxton)ENSG00000104872 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000104872 [Gene_View]  chr19:49446293-49451858 [Contig_View]  PIH1D1 [Vega]
ICGC DataPortalENSG00000104872
TCGA cBioPortalPIH1D1
AceView (NCBI)PIH1D1
Genatlas (Paris)PIH1D1
WikiGenes55011
SOURCE (Princeton)PIH1D1
Genetics Home Reference (NIH)PIH1D1
Genomic and cartography
GoldenPath hg38 (UCSC)PIH1D1  -     chr19:49446293-49451858 -  19q13.33   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PIH1D1  -     19q13.33   [Description]    (hg19-Feb_2009)
EnsemblPIH1D1 - 19q13.33 [CytoView hg19]  PIH1D1 - 19q13.33 [CytoView hg38]
Mapping of homologs : NCBIPIH1D1 [Mapview hg19]  PIH1D1 [Mapview hg38]
OMIM611480   
Gene and transcription
Genbank (Entrez)AA018444 AK000650 AK294687 AK304476 BC001108
RefSeq transcript (Entrez)NM_017916
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PIH1D1
Cluster EST : UnigeneHs.5245 [ NCBI ]
CGAP (NCI)Hs.5245
Alternative Splicing GalleryENSG00000104872
Gene ExpressionPIH1D1 [ NCBI-GEO ]   PIH1D1 [ EBI - ARRAY_EXPRESS ]   PIH1D1 [ SEEK ]   PIH1D1 [ MEM ]
Gene Expression Viewer (FireBrowse)PIH1D1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)55011
GTEX Portal (Tissue expression)PIH1D1
Human Protein AtlasENSG00000104872-PIH1D1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NWS0   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9NWS0  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9NWS0
Splice isoforms : SwissVarQ9NWS0
PhosPhoSitePlusQ9NWS0
Domains : Interpro (EBI)PIH1   
Domain families : Pfam (Sanger)PIH1 (PF08190)   
Domain families : Pfam (NCBI)pfam08190   
Conserved Domain (NCBI)PIH1D1
DMDM Disease mutations55011
Blocks (Seattle)PIH1D1
PDB (SRS)4PSF    4PSI   
PDB (PDBSum)4PSF    4PSI   
PDB (IMB)4PSF    4PSI   
PDB (RSDB)4PSF    4PSI   
Structural Biology KnowledgeBase4PSF    4PSI   
SCOP (Structural Classification of Proteins)4PSF    4PSI   
CATH (Classification of proteins structures)4PSF    4PSI   
SuperfamilyQ9NWS0
Human Protein Atlas [tissue]ENSG00000104872-PIH1D1 [tissue]
Peptide AtlasQ9NWS0
HPRD07938
IPIIPI00550995   IPI00910997   
Protein Interaction databases
DIP (DOE-UCLA)Q9NWS0
IntAct (EBI)Q9NWS0
FunCoupENSG00000104872
BioGRIDPIH1D1
STRING (EMBL)PIH1D1
ZODIACPIH1D1
Ontologies - Pathways
QuickGOQ9NWS0
Ontology : AmiGObox C/D snoRNP assembly  RNA polymerase I CORE element sequence-specific DNA binding  RNA polymerase I upstream control element sequence-specific DNA binding  protein binding  nucleus  nucleolus  cytoplasm  chromatin remodeling  transcription, DNA-templated  rRNA processing  protein kinase binding  epithelial cell differentiation  positive regulation of protein complex assembly  positive regulation of protein complex assembly  histone binding  snoRNA localization  ATPase binding  phosphoprotein binding  regulation of histone H3-K4 methylation  pre-snoRNP complex  establishment of protein localization to chromatin  positive regulation of protein serine/threonine kinase activity  positive regulation of histone H4 acetylation  R2TP complex  negative regulation of histone H3-K9 dimethylation  negative regulation of histone H3-K9 trimethylation  positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter  positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter  positive regulation of glucose mediated signaling pathway  regulation of TORC2 signaling  positive regulation of TORC1 signaling  positive regulation of histone H3-K9 acetylation  negative regulation of histone H4-K16 acetylation  negative regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway  
Ontology : EGO-EBIbox C/D snoRNP assembly  RNA polymerase I CORE element sequence-specific DNA binding  RNA polymerase I upstream control element sequence-specific DNA binding  protein binding  nucleus  nucleolus  cytoplasm  chromatin remodeling  transcription, DNA-templated  rRNA processing  protein kinase binding  epithelial cell differentiation  positive regulation of protein complex assembly  positive regulation of protein complex assembly  histone binding  snoRNA localization  ATPase binding  phosphoprotein binding  regulation of histone H3-K4 methylation  pre-snoRNP complex  establishment of protein localization to chromatin  positive regulation of protein serine/threonine kinase activity  positive regulation of histone H4 acetylation  R2TP complex  negative regulation of histone H3-K9 dimethylation  negative regulation of histone H3-K9 trimethylation  positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter  positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter  positive regulation of glucose mediated signaling pathway  regulation of TORC2 signaling  positive regulation of TORC1 signaling  positive regulation of histone H3-K9 acetylation  negative regulation of histone H4-K16 acetylation  negative regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway  
NDEx NetworkPIH1D1
Atlas of Cancer Signalling NetworkPIH1D1
Wikipedia pathwaysPIH1D1
Orthology - Evolution
OrthoDB55011
GeneTree (enSembl)ENSG00000104872
Phylogenetic Trees/Animal Genes : TreeFamPIH1D1
HOVERGENQ9NWS0
HOGENOMQ9NWS0
Homologs : HomoloGenePIH1D1
Homology/Alignments : Family Browser (UCSC)PIH1D1
Gene fusions - Rearrangements
Tumor Fusion PortalPIH1D1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPIH1D1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PIH1D1
dbVarPIH1D1
ClinVarPIH1D1
1000_GenomesPIH1D1 
Exome Variant ServerPIH1D1
ExAC (Exome Aggregation Consortium)ENSG00000104872
GNOMAD BrowserENSG00000104872
Genetic variants : HAPMAP55011
Genomic Variants (DGV)PIH1D1 [DGVbeta]
DECIPHERPIH1D1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPIH1D1 
Mutations
ICGC Data PortalPIH1D1 
TCGA Data PortalPIH1D1 
Broad Tumor PortalPIH1D1
OASIS PortalPIH1D1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPIH1D1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPIH1D1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch PIH1D1
DgiDB (Drug Gene Interaction Database)PIH1D1
DoCM (Curated mutations)PIH1D1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PIH1D1 (select a term)
intoGenPIH1D1
Cancer3DPIH1D1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM611480   
Orphanet
DisGeNETPIH1D1
MedgenPIH1D1
Genetic Testing Registry PIH1D1
NextProtQ9NWS0 [Medical]
TSGene55011
GENETestsPIH1D1
Target ValidationPIH1D1
Huge Navigator PIH1D1 [HugePedia]
snp3D : Map Gene to Disease55011
BioCentury BCIQPIH1D1
ClinGenPIH1D1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD55011
Chemical/Pharm GKB GenePA162399535
Clinical trialPIH1D1
Miscellaneous
canSAR (ICR)PIH1D1 (select the gene name)
Probes
Litterature
PubMed35 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePIH1D1
EVEXPIH1D1
GoPubMedPIH1D1
iHOPPIH1D1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Nov 20 20:07:08 CET 2017

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