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Aliases for PHC1 Gene

Aliases for PHC1 Gene

  • Polyhomeotic Homolog 1 2 3
  • Early Development Regulator 1 (Homolog Of Polyhomeotic 1) 2 3
  • Early Development Regulatory Protein 1 3 4
  • Polyhomeotic Homolog 1 (Drosophila) 2 5
  • HPH1 3 4
  • EDR1 3 4
  • Polyhomeotic-Like 1 (Drosophila) 2
  • Polyhomeotic-Like 1 3
  • MCPH11 3
  • RAE28 3
  • PH1 4

External Ids for PHC1 Gene

Previous HGNC Symbols for PHC1 Gene

  • EDR1

Previous GeneCards Identifiers for PHC1 Gene

  • GC12P009215
  • GC12P008967
  • GC12P008958
  • GC12P009067

Summaries for PHC1 Gene

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) is a Protein Coding gene. Diseases associated with PHC1 include Microcephaly 11, Primary, Autosomal Recessive and Autosomal Recessive Primary Microcephaly. Among its related pathways are Regulation of Glucokinase by Glucokinase Regulatory Protein and Cellular Senescence. GO annotations related to this gene include chromatin binding. An important paralog of this gene is SAMD7.

UniProtKB/Swiss-Prot for PHC1 Gene

  • 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PHC1 Gene

Genomics for PHC1 Gene

Regulatory Elements for PHC1 Gene

Enhancers for PHC1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around PHC1 on UCSC Golden Path with GeneCards custom track

Promoters for PHC1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PHC1 on UCSC Golden Path with GeneCards custom track

Genomic Location for PHC1 Gene

Chromosome:
12
Start:
8,913,896 bp from pter
End:
8,941,467 bp from pter
Size:
27,572 bases
Orientation:
Plus strand

Genomic View for PHC1 Gene

Genes around PHC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PHC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PHC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PHC1 Gene

Proteins for PHC1 Gene

  • Protein details for PHC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P78364-PHC1_HUMAN
    Recommended name:
    Polyhomeotic-like protein 1
    Protein Accession:
    P78364
    Secondary Accessions:
    • D3DUV4
    • Q8WVM3
    • Q9BU63

    Protein attributes for PHC1 Gene

    Size:
    1004 amino acids
    Molecular mass:
    105534 Da
    Quaternary structure:
    • 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.
    SequenceCaution:
    • Sequence=AAH17748.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for PHC1 Gene

neXtProt entry for PHC1 Gene

Proteomics data for PHC1 Gene at MOPED

Post-translational modifications for PHC1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for PHC1 (PHC1)

No data available for DME Specific Peptides for PHC1 Gene

Domains & Families for PHC1 Gene

Gene Families for PHC1 Gene

Protein Domains for PHC1 Gene

InterPro:
Blocks:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

P78364

UniProtKB/Swiss-Prot:

PHC1_HUMAN :
  • Contains 1 SAM (sterile alpha motif) domain.
  • Contains 1 FCS-type zinc finger.
Domain:
  • Contains 1 SAM (sterile alpha motif) domain.
Similarity:
  • Contains 1 FCS-type zinc finger.
genes like me logo Genes that share domains with PHC1: view

Function for PHC1 Gene

Molecular function for PHC1 Gene

UniProtKB/Swiss-Prot 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) - Molecular Function for PHC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA --
genes like me logo Genes that share ontologies with PHC1: view
genes like me logo Genes that share phenotypes with PHC1: view

Human Phenotype Ontology for PHC1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PHC1 Gene

MGI Knock Outs for PHC1:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for PHC1 Gene

Localization for PHC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PHC1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PHC1 Gene COMPARTMENTS Subcellular localization image for PHC1 gene
Compartment Confidence
nucleus 5
cytosol 2

Gene Ontology (GO) - Cellular Components for PHC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 21282530
genes like me logo Genes that share ontologies with PHC1: view

Pathways & Interactions for PHC1 Gene

genes like me logo Genes that share pathways with PHC1: view

Pathways by source for PHC1 Gene

Gene Ontology (GO) - Biological Process for PHC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016574 histone ubiquitination IDA 23418308
GO:0016925 protein sumoylation TAS --
GO:0043687 post-translational protein modification TAS --
GO:0044267 cellular protein metabolic process TAS --
genes like me logo Genes that share ontologies with PHC1: view

No data available for SIGNOR curated interactions for PHC1 Gene

Drugs & Compounds for PHC1 Gene

No Compound Related Data Available

Transcripts for PHC1 Gene

Unigene Clusters for PHC1 Gene

Polyhomeotic homolog 1 (Drosophila):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PHC1 Gene

No ASD Table

Relevant External Links for PHC1 Gene

GeneLoc Exon Structure for
PHC1
ECgene alternative splicing isoforms for
PHC1

Expression for PHC1 Gene

mRNA expression in normal human tissues for PHC1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PHC1 Gene

This gene is overexpressed in Fetal testis (22.6), Testis (19.5), Peripheral blood mononuclear cells (12.4), and Blymphocyte (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for PHC1 Gene



SOURCE GeneReport for Unigene cluster for PHC1 Gene Hs.744902

genes like me logo Genes that share expression patterns with PHC1: view

Protein tissue co-expression partners for PHC1 Gene

- Elite partner

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for PHC1 Gene

Orthologs for PHC1 Gene

This gene was present in the common ancestor of animals.

Orthologs for PHC1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia PHC1 35
  • 88.41 (n)
  • 94.09 (a)
PHC1 36
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Phc1 35
  • 88.84 (n)
  • 92.53 (a)
Phc1 16
Phc1 36
  • 92 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PHC1 35
  • 99.24 (n)
  • 99.6 (a)
PHC1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Phc1 35
  • 89.07 (n)
  • 92.82 (a)
dog
(Canis familiaris)
Mammalia PHC1 36
  • 93 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PHC1 36
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PHC1 36
  • 55 (a)
OneToOne
chicken
(Gallus gallus)
Aves PHC1 35
  • 72.79 (n)
  • 77.76 (a)
PHC1 36
  • 79 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PHC1 36
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100488113 35
  • 64.54 (n)
  • 69.39 (a)
Str.2700 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.16260 35
zebrafish
(Danio rerio)
Actinopterygii phc1 36
  • 35 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta ph-d 36
  • 16 (a)
ManyToMany
ph-p 36
  • 16 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 27 (a)
OneToMany
Species with no ortholog for PHC1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for PHC1 Gene

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

Paralogs for PHC1 Gene

Paralogs for PHC1 Gene

genes like me logo Genes that share paralogs with PHC1: view

Variants for PHC1 Gene

Sequence variations from dbSNP and Humsavar for PHC1 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs1049925 - 8,934,302(-) TGGAG(C/T)ATTAG reference, missense
VAR_070566 Microcephaly 11, primary, autosomal recessive (MCPH11)
rs7297194 -- 8,926,462(+) acata(C/G)aaaaa intron-variant
rs7297711 -- 8,926,902(+) gaggg(C/T)gaaac intron-variant
rs7302417 -- 8,938,520(+) CAAGA(G/T)ATCCT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PHC1 Gene

Variant ID Type Subtype PubMed ID
nsv832327 CNV Loss 17160897
nsv52793 CNV Loss 16902084

Variation tolerance for PHC1 Gene

Residual Variation Intolerance Score: 25.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.76; 78.92% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PHC1 Gene

Human Gene Mutation Database (HGMD)
PHC1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PHC1 Gene

Disorders for PHC1 Gene

MalaCards: The human disease database

(6) MalaCards diseases for PHC1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search PHC1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PHC1_HUMAN
  • 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. {ECO:0000269 PubMed:23418308}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for PHC1

Genetic Association Database (GAD)
PHC1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PHC1
genes like me logo Genes that share disorders with PHC1: view

No data available for Genatlas for PHC1 Gene

Publications for PHC1 Gene

  1. Identification and characterization of interactions between the vertebrate polycomb-group protein BMI1 and human homologs of polyhomeotic. (PMID: 9121482) Gunster M.J. … Otte A.P. (Mol. Cell. Biol. 1997) 2 3 4 23 67
  2. Structure and chromosomal localization of the RAE28/HPH1 gene, a human homologue of the polyhomeotic gene. (PMID: 10902910) Ohta H. … Takihara Y. (DNA Seq. 2000) 3 23
  3. RING1 is associated with the polycomb group protein complex and acts as a transcriptional repressor. (PMID: 9199346) Satijn D.P.E. … Otte A.P. (Mol. Cell. Biol. 1997) 3 23
  4. Proximity biotinylation and affinity purification are complementary approaches for the interactome mapping of chromatin-associated protein complexes. (PMID: 25281560) Lambert J.P. … Gingras A.C. (J Proteomics 2015) 3
  5. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3

Products for PHC1 Gene

Sources for PHC1 Gene

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