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PHC1 Gene

protein-coding   GIFtS: 50
GCID: GC12P009067

Polyhomeotic Homolog 1 (Drosophila)

(Previous names: early development regulator 1 (homolog of polyhomeotic 1),...)
(Previous symbol: EDR1)
  See PHC1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Polyhomeotic Homolog 1 (Drosophila)1 2     RAE282 5
EDR11 2 3 5     Polyhomeotic-Like 1 (Drosophila)1
Early Development Regulator 1 (Homolog Of Polyhomeotic 1)1 2     Polyhomeotic-Like 12
Early Development Regulatory Protein 12 3     Polyhomeotic-Like Protein 12
HPH12 5     PH13
MCPH112 5     hPH13

External Ids:    HGNC: 31821   Entrez Gene: 19112   Ensembl: ENSG000001117527   OMIM: 6029785   UniProtKB: P783643   

Export aliases for PHC1 gene to outside databases

Previous GC identifers: GC12P009215 GC12P008967 GC12P008958 GC12P008847


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for PHC1 Gene:
This gene is a homolog of the Drosophila polyhomeotic gene, which is a member of the Polycomb group of genes. The
gene product is a component of a multimeric protein complex that contains EDR2 and the vertebrate Polycomb
protein BMH1. The gene product, the EDR2 protein, and the Drosophila polyhomeotic protein share 2 highly
conserved domains, named homology domains I and II. These domains are involved in protein-protein interactions
and may mediate heterodimerization of the protein encoded by this gene and the EDR2 protein. (provided by RefSeq,
Jul 2008)

GeneCards Summary for PHC1 Gene:
PHC1 (polyhomeotic homolog 1 (Drosophila)) is a protein-coding gene. Diseases associated with PHC1 include primary autosomal recessive microcephaly type 11, and primary autosomal recessive microcephaly type 1. GO annotations related to this gene include chromatin binding. An important paralog of this gene is PHC3.

UniProtKB/Swiss-Prot: PHC1_HUMAN, P78364
Function: Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain
the transcriptionally repressive state of many genes, including Hox genes, throughout development. PcG PRC1
complex acts via chromatin remodeling and modification of histones; it mediates monoubiquitination of histone H2A
'Lys-119', rendering chromatin heritably changed in its expressibility. Required for proper control of cellular
levels of GMNN expression

Gene Wiki entry for PHC1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Regulatory transcription factor binding sites in the PHC1 gene promoter:
         Oct-B1   oct-B2   MyoD   Nkx2-5   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPHC1 promoter sequence
   Search Chromatin IP Primers for PHC1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PHC1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 12p13   Ensembl cytogenetic band:  12p13.31   HGNC cytogenetic band: 12p13

PHC1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PHC1 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P009067:  view genomic region     (about GC identifiers)

Start:
9,066,492 bp from pter      End:
9,094,063 bp from pter
Size:
27,572 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: PHC1_HUMAN, P78364 (See protein sequence)
Recommended Name: Polyhomeotic-like protein 1  
Size: 1004 amino acids; 105534 Da
Subunit: Homodimer. Component of a PRC1-like complex
Miscellaneous: The hPRC-H complex purification reported by PubMed:12167701 probably presents a mixture of
different PRC1-like complexes
Sequence caution: Sequence=AAH17748.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
1 PDB 3D structure from and Proteopedia for PHC1:
2L8E (3D)    
Secondary accessions: D3DUV4 Q8WVM3 Q9BU63

Explore the universe of human proteins at neXtProt for PHC1: NX_P78364

Explore proteomics data for PHC1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See PHC1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_004417.2  
    ENSEMBL proteins: 
     ENSP00000437654   ENSP00000440674   ENSP00000399194   ENSP00000437659   ENSP00000437645  
     ENSP00000437459   ENSP00000444308   ENSP00000445939   ENSP00000446388   ENSP00000443676  
     ENSP00000445307   ENSP00000440488  
    Reactome Protein details: P78364

    PHC1 Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for PHC1
    OriGene Custom MassSpec
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    Novus Biologicals PHC1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for PHC1

     
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    Search antibodies-online for peptides for PHC1

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    antibodies-online antibodies for PHC1 (22 products) 

    PHC1 Assay Products:

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    Cloud-Clone Corp. ELISAs for PHC1
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    antibodies-online kits for PHC1 (4 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    SAMD: Sterile alpha motif (SAM) domain containing

    5 InterPro protein domains:
     IPR021129 SAM_type1
     IPR013761 SAM/pointed
     IPR001660 SAM
     IPR012313 Znf_FCS
     IPR010507 Znf_MYM

    Graphical View of Domain Structure for InterPro Entry P78364

    ProtoNet protein and cluster: P78364

    1 Blocks protein domain: IPB001660 Sterile alpha motif SAM

    UniProtKB/Swiss-Prot: PHC1_HUMAN, P78364
    Similarity: Contains 1 FCS-type zinc finger
    Similarity: Contains 1 SAM (sterile alpha motif) domain


    Find genes that share domains with PHC1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PHC1_HUMAN, P78364
    Function: Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain
    the transcriptionally repressive state of many genes, including Hox genes, throughout development. PcG PRC1
    complex acts via chromatin remodeling and modification of histones; it mediates monoubiquitination of histone H2A
    'Lys-119', rendering chromatin heritably changed in its expressibility. Required for proper control of cellular
    levels of GMNN expression

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0003682chromatin binding IEA--
    GO:0005515protein binding ----
    GO:0008270zinc ion binding IEA--
         
    Find genes that share ontologies with PHC1           About GenesLikeMe


    Phenotypes:
         13 MGI mutant phenotypes (inferred from 1 allele(MGI details for Phc1):
     cardiovascular system  craniofacial  digestive/alimentary  embryogenesis  endocrine/exocrine gland 
     growth/size/body  hearing/vestibular/ear  hematopoietic system  immune system  limbs/digits/tail 
     mortality/aging  skeleton  vision/eye 

    Find genes that share phenotypes with PHC1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Phc1tm1Os for PHC1

       genOway: Develop your customized and physiologically relevant rodent model for PHC1

    miRNA
    Products:
        
    miRTarBase miRNAs that target PHC1:
    hsa-mir-1229-3p (MIRT036290), hsa-mir-20a-5p (MIRT050613)

    Block miRNA regulation of human, mouse, rat PHC1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate PHC1 (see all 39):
    hsa-miR-1224-3p hsa-miR-29a hsa-let-7a-2* hsa-miR-3167 hsa-miR-1184 hsa-miR-149 hsa-miR-1243 hsa-miR-889
    SwitchGear 3'UTR luciferase reporter plasmidPHC1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for PHC1
    Predesigned siRNA for gene silencing in human, mouse, rat PHC1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for PHC1

    Clone
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    OriGene clones in human, mouse for PHC1 (see all 7)
    OriGene ORF clones in mouse, rat for PHC1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: PHC1 (NM_004426)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PHC1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PHC1

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for PHC1
    Browse ESI BIO Cell Lines and PureStem Progenitors for PHC1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PHC1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    PHC1_HUMAN, P78364: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001739sex chromatin IEA--
    GO:0005634nucleus IDA--
    GO:0005654nucleoplasm TAS--
    GO:0005730NOT nucleolus IDA--
    GO:0016604nuclear body IEA--

    Find genes that share ontologies with PHC1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for PHC1 About    
    See pathways by source

    SuperPathContained pathways About
    1Cellular Senescence
    Cellular Senescence0.81
    Oxidative Stress Induced Senescence0.64
    Cellular responses to stress0.81


    Find genes that share SuperPaths with PHC1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for PHC1
        Oxidative Stress Induced Senescence


        Pathway & Disease-focused RT2 Profiler PCR Arrays including PHC1: 
              Polycomb & Trithorax Complexes in human mouse rat
              Epigenetic Chromatin Remodeling Factors in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for PHC1

    Selected Interacting proteins for PHC1 (P783642, 3) via UniProtKB, MINT, STRING, and/or I2D (see all 51)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000206287Q065872, 3MINT-8010325 MINT-8010390 I2D: score=2 
    ENSG00000226788Q065872, 3MINT-8010325 MINT-8010390 I2D: score=2 
    ENSG00000228520Q065872, 3MINT-8010325 MINT-8010390 I2D: score=2 
    ENSG00000231115Q065872, 3MINT-8010325 MINT-8010390 I2D: score=2 
    ENSG00000235107Q065872, 3MINT-8010325 MINT-8010390 I2D: score=2 
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007275multicellular organismal development IEA--
    GO:0016574histone ubiquitination IDA--
    GO:0071300cellular response to retinoic acid IEA--

    Find genes that share ontologies with PHC1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for PHC1



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for PHC1 gene: 
    NM_004426.2  

    15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000538657 ENST00000543824(uc010sgn.1) ENST00000433847(uc001qvc.1)
    ENST00000433083 ENST00000544916 ENST00000544539 ENST00000539063 ENST00000540574
    ENST00000541181 ENST00000542346 ENST00000539928 ENST00000537610 ENST00000535510
    ENST00000540809 ENST00000536844
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat PHC1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate PHC1 (see all 39):
    hsa-miR-1224-3p hsa-miR-29a hsa-let-7a-2* hsa-miR-3167 hsa-miR-1184 hsa-miR-149 hsa-miR-1243 hsa-miR-889
    SwitchGear 3'UTR luciferase reporter plasmidPHC1 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for PHC1
    Predesigned siRNA for gene silencing in human, mouse, rat PHC1
    Clone
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    OriGene clones in human, mouse for PHC1 (see all 7)
    OriGene ORF clones in mouse, rat for PHC1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: PHC1 (NM_004426)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PHC1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PHC1
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for PHC1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PHC1
      QuantiTect SYBR Green Assays in human, mouse, rat PHC1
      QuantiFast Probe-based Assays in human, mouse, rat PHC1

    Selected AceView cDNA sequences (see all 291):

    BQ688768 AW612766 AI093186 BF432362 AA179832 BQ962826 AI300399 AA582265 
    AA091502 BM702653 BQ070998 BQ007898 BM544928 AI701124 AI278242 CA314583 
    AA338510 AA429451 AI016230 AI571509 AV702165 BM315003 BC002871 AI078497 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    PHC1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAAGCAATCA
    PHC1 Expression
    About this image


    PHC1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 2 entries
             Human embryonic stem cells (family)
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
     
     Kidney (Urinary System)
             Metanephros
     
     Neural Tube (Nervous System)
             Metencephalon
    PHC1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PHC1 Protein Expression
        Pathway & Disease-focused RT2 Profiler PCR Arrays including PHC1: 
              Polycomb & Trithorax Complexes in human mouse rat
              Epigenetic Chromatin Remodeling Factors in human mouse rat

    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for PHC1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PHC1
    QuantiTect SYBR Green Assays in human, mouse, rat PHC1
    QuantiFast Probe-based Assays in human, mouse, rat PHC1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PHC1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for PHC1 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Phc11 , 5 polyhomeotic-like 1 (Drosophila)1, 5 88.84(n)1
    92.53(a)1
      6 (57.52 cM)5
    136191  NM_007905.31  NP_031931.21 
     1223177385 
    chicken
    (Gallus gallus)
    Aves PHC11 polyhomeotic homolog 1 (Drosophila) 72.79(n)
    77.76(a)
      418252  NM_001006249.1  NP_001006249.1 
    lizard
    (Anolis carolinensis)
    Reptilia PHC16
    polyhomeotic homolog 1 (Drosophila)
    76(a)
    1 ↔ 1
    2(81549095-81590307)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.162602 Xenopus laevis transcribed sequence with moderate similarity more 74.3(n)    BJ033642.1 
    zebrafish
    (Danio rerio)
    Actinopterygii phc16
    polyhomeotic homolog 1
    35(a)
    1 ↔ 1
    16(34257008-34274819) ENSDARG00000002971
    fruit fly
    (Drosophila melanogaster)
    Insecta ph-p6
    ph-d6
    polyhomeotic distal
    16(a)
    16(a)
    many ↔ many
    many ↔ many
    X(2020243-2030888)
    X(2010899-2017164)


    ENSEMBL Gene Tree for PHC1 (if available)
    TreeFam Gene Tree for PHC1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PHC1 gene
    PHC32  PHC22  SAMD72  SAMD112  
    6 SIMAP similar genes for PHC1 using alignment to 13 protein entries:     PHC1_HUMAN (see all proteins):
    HPH1    DKFZp686A1782    SAMD13    PHC3    SAMD1    HPH2

    Find genes that share paralogs with PHC1           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for PHC1 (see all 554)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0705664
    Microcephaly 11, primary, autosomal recessive (MCPH11)4--see VAR_0705662 L F mis40--------
    rs1866270681,2
    --9065321(+) TGTACC/TCTCTT 1 -- us2k10--------
    rs18057821,2
    C,F--9065324(-) ACCAAG/AAGGGT 1 -- us2k16Minor allele frequency- A:0.12NA WA CSA 128
    rs1453873321,2
    --9065331(+) TGGTAC/TACAAG 1 -- us2k10--------
    rs18057431,2
    C,F,H--9065342(-) AGCCTA/GTGGAA 1 -- us2k112Minor allele frequency- G:0.26NA EA CSA WA 616
    rs1492135541,2
    --9065380(+) TATCTA/GCATTC 1 -- us2k10--------
    rs1179123661,2
    F--9065538(+) GGTGCT/CAGAAA 1 -- us2k11Minor allele frequency- C:0.01NA 120
    rs1433557211,2
    --9065761(+) CGTGTC/TTTCGC 1 -- us2k10--------
    rs18057421,2
    C,F,A,H--9065846(-) GAGAAC/GAATTT 1 -- us2k128Minor allele frequency- G:0.24NS EA NA CSA WA 2022
    rs18057811,2
    C,F,H--9065888(-) GGACTC/TCAAGG 1 -- us2k123Minor allele frequency- T:0.03NS MN EA NA 2474

    HapMap Linkage Disequilibrium report for PHC1 (9066492 - 9094063 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for PHC1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv52793CNV Loss16902084
    nsv832327CNV Loss17160897

    Human Gene Mutation Database (HGMD): PHC1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PHC1
    DNA2.0 Custom Variant and Variant Library Synthesis for PHC1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 602978   
    OMIM disorders: 615414  
    UniProtKB/Swiss-Prot: PHC1_HUMAN, P78364
  • Microcephaly 11, primary, autosomal recessive (MCPH11) [MIM:615414]: A form of microcephaly, a disease
    defined as a head circumference more than 3 standard deviations below the age-related mean. Brain weight is
    markedly reduced and the cerebral cortex is disproportionately small. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 3 diseases for PHC1:    
    About MalaCards
    primary autosomal recessive microcephaly type 11    primary autosomal recessive microcephaly type 1    primary autosomal recessive microcephalies and seckel syndrome spectrum disorders

    1 disease from the University of Copenhagen DISEASES database for PHC1:
    Embryonal carcinoma

    Find genes that share disorders with PHC1           About GenesLikeMe

    2 Novoseek inferred disease relationships for PHC1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hodgkin disease 50.6 1 15470680 (1)
    tumors 1.51 2 16528373 (1)

    Genetic Association Database (GAD): PHC1

    Export disorders for PHC1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for PHC1 gene, integrated from 10 sources (see all 39):
    (articles sorted by number of sources associating them with PHC1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification and characterization of interactions between the vertebrate polycomb-group protein BMI1 and human homologs of polyhomeotic. (PubMed id 9121482)1, 2, 3, 9 Gunster M.J.... Otte A.P. (Mol. Cell. Biol. 1997)
    2. RING1 is associated with the polycomb group protein complex and acts as a transcriptional repressor. (PubMed id 9199346)1, 2, 9 Satijn D.P.E.... Otte A.P. (Mol. Cell. Biol. 1997)
    3. Mutation in PHC1 implicates chromatin remodeling in primary microcephaly pathogenesis. (PubMed id 23418308)1, 2 Awad S....Poizat C. (Hum. Mol. Genet. 2013)
    4. Several distinct polycomb complexes regulate and co-localize on the INK4a tumor suppressor locus. (PubMed id 19636380)1, 2 Maertens G.N.... Peters G. (PLoS ONE 2009)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    6. The core of the polycomb repressive complex is compositionally and functionally conserved in flies and humans. (PubMed id 12167701)1, 2 Levine S.S....Kingston R.E. (Mol. Cell. Biol. 2002)
    7. Structure and chromosomal localization of the RAE28/HPH1 gene, a human homologue of the polyhomeotic gene. (PubMed id 10902910)1, 9 Ohta H.... Takihara Y. (DNA Seq. 2000)
    8. Structure of the polycomb group protein PCGF1 in complex with BCOR reveals basis for binding selectivity of PCGF homologs. (PubMed id 23523425)1 Junco S.E....Kim C.A. (Structure 2013)
    9. Protein phosphatase 1I^ isoforms linked interactions in the brain. (PubMed id 23080069)1 Esteves S.L....da Cruz e Silva E.F. (J. Mol. Neurosci. 2013)
    10. Scmh1 has E3 ubiquitin ligase activity for geminin and histone H2A and regulates geminin stability directly or indirectly via transcriptional repression of Hoxa9 and Hoxb4. (PubMed id 23207902)1 Yasunaga S....Takihara Y. (Mol. Cell. Biol. 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 1911 HGNC: 3182 AceView: PHC1 Ensembl:ENSG00000111752 euGenes: HUgn1911
    ECgene: PHC1 H-InvDB: PHC1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for PHC1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for PHC1 gene:
    Search GeneIP for patents involving PHC1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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