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PHC1 (polyhomeotic homolog 1)

Identity

Alias (NCBI)EDR1
HPH1
MCPH11
RAE28
HGNC (Hugo) PHC1
HGNC Alias symbHPH1
RAE28
HGNC Previous nameEDR1
HGNC Previous nameearly development regulator 1 (homolog of polyhomeotic 1)
 polyhomeotic-like 1 (Drosophila)
 polyhomeotic homolog 1 (Drosophila)
LocusID (NCBI) 1911
Atlas_Id 71878
Location 12p13.31  [Link to chromosome band 12p13]
Location_base_pair Starts at 8914509 and ends at 8941464 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)
A2ML1 (12p13.31) / PHC1 (12p13.31)PHC1 (12p13.31) / SEC63 (6q21)ZNF207 (17q11.2) / PHC1 (12p13.31)

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)PHC1   3182
Cards
Entrez_Gene (NCBI)PHC1    polyhomeotic homolog 1
AliasesEDR1; HPH1; MCPH11; RAE28
GeneCards (Weizmann)PHC1
Ensembl hg19 (Hinxton)ENSG00000111752 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000111752 [Gene_View]  ENSG00000111752 [Sequence]  chr12:8914509-8941464 [Contig_View]  PHC1 [Vega]
ICGC DataPortalENSG00000111752
TCGA cBioPortalPHC1
AceView (NCBI)PHC1
Genatlas (Paris)PHC1
SOURCE (Princeton)PHC1
Genetics Home Reference (NIH)PHC1
Genomic and cartography
GoldenPath hg38 (UCSC)PHC1  -     chr12:8914509-8941464 +  12p13.31   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PHC1  -     12p13.31   [Description]    (hg19-Feb_2009)
GoldenPathPHC1 - 12p13.31 [CytoView hg19]  PHC1 - 12p13.31 [CytoView hg38]
ImmunoBaseENSG00000111752
Genome Data Viewer NCBIPHC1 [Mapview hg19]  
OMIM602978   615414   
Gene and transcription
Genbank (Entrez)AB209063 AK293893 BC002871 BC017748 BC073964
RefSeq transcript (Entrez)NM_004426
Consensus coding sequences : CCDS (NCBI)PHC1
Gene ExpressionPHC1 [ NCBI-GEO ]   PHC1 [ EBI - ARRAY_EXPRESS ]   PHC1 [ SEEK ]   PHC1 [ MEM ]
Gene Expression Viewer (FireBrowse)PHC1 [ Firebrowse - Broad ]
GenevisibleExpression of PHC1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1911
GTEX Portal (Tissue expression)PHC1
Human Protein AtlasENSG00000111752-PHC1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP78364   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP78364  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP78364
PhosPhoSitePlusP78364
Domaine pattern : Prosite (Expaxy)SAM_DOMAIN (PS50105)    ZF_FCS (PS51024)   
Domains : Interpro (EBI)SAM    SAM/pointed_sf    Znf_FCS    Znf_FCS_sf   
Domain families : Pfam (Sanger)SAM_1 (PF00536)   
Domain families : Pfam (NCBI)pfam00536   
Domain families : Smart (EMBL)SAM (SM00454)  
Conserved Domain (NCBI)PHC1
PDB (RSDB)2L8E   
PDB Europe2L8E   
PDB (PDBSum)2L8E   
PDB (IMB)2L8E   
Structural Biology KnowledgeBase2L8E   
SCOP (Structural Classification of Proteins)2L8E   
CATH (Classification of proteins structures)2L8E   
SuperfamilyP78364
AlphaFold pdb e-kbP78364   
Human Protein Atlas [tissue]ENSG00000111752-PHC1 [tissue]
HPRD16009
Protein Interaction databases
DIP (DOE-UCLA)P78364
IntAct (EBI)P78364
BioGRIDPHC1
STRING (EMBL)PHC1
ZODIACPHC1
Ontologies - Pathways
QuickGOP78364
Ontology : AmiGODNA binding  chromatin binding  protein binding  nucleus  nucleus  nucleoplasm  nucleoplasm  multicellular organism development  zinc ion binding  histone ubiquitination  PcG protein complex  PRC1 complex  PRC1 complex  histone binding  negative regulation of transcription, DNA-templated  negative regulation of G0 to G1 transition  
Ontology : EGO-EBIDNA binding  chromatin binding  protein binding  nucleus  nucleus  nucleoplasm  nucleoplasm  multicellular organism development  zinc ion binding  histone ubiquitination  PcG protein complex  PRC1 complex  PRC1 complex  histone binding  negative regulation of transcription, DNA-templated  negative regulation of G0 to G1 transition  
Pathways : BIOCARTAThe PRC2 Complex Sets Long-term Gene Silencing Through Modification of Histone Tails [Genes]   
NDEx NetworkPHC1
Atlas of Cancer Signalling NetworkPHC1
Wikipedia pathwaysPHC1
Orthology - Evolution
OrthoDB1911
GeneTree (enSembl)ENSG00000111752
Phylogenetic Trees/Animal Genes : TreeFamPHC1
Homologs : HomoloGenePHC1
Homology/Alignments : Family Browser (UCSC)PHC1
Gene fusions - Rearrangements
Fusion : QuiverPHC1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPHC1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PHC1
dbVarPHC1
ClinVarPHC1
MonarchPHC1
1000_GenomesPHC1 
Exome Variant ServerPHC1
GNOMAD BrowserENSG00000111752
Varsome BrowserPHC1
ACMGPHC1 variants
VarityP78364
Genomic Variants (DGV)PHC1 [DGVbeta]
DECIPHERPHC1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPHC1 
Mutations
ICGC Data PortalPHC1 
TCGA Data PortalPHC1 
Broad Tumor PortalPHC1
OASIS PortalPHC1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPHC1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DPHC1
Mutations and Diseases : HGMDPHC1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaPHC1
DgiDB (Drug Gene Interaction Database)PHC1
DoCM (Curated mutations)PHC1
CIViC (Clinical Interpretations of Variants in Cancer)PHC1
Cancer3DPHC1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM602978    615414   
Orphanet732   
DisGeNETPHC1
MedgenPHC1
Genetic Testing Registry PHC1
NextProtP78364 [Medical]
GENETestsPHC1
Target ValidationPHC1
Huge Navigator PHC1 [HugePedia]
ClinGenPHC1
Clinical trials, drugs, therapy
MyCancerGenomePHC1
Protein Interactions : CTDPHC1
Pharm GKB GenePA27619
PharosP78364
Clinical trialPHC1
Miscellaneous
canSAR (ICR)PHC1
HarmonizomePHC1
DataMed IndexPHC1
Probes
Litterature
PubMed41 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXPHC1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 16:16:04 CEST 2021

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