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PHC1 polyhomeotic homolog 1 [ Homo sapiens (human) ]

Gene ID: 1911, updated on 24-Nov-2020

Summary

Official Symbol
PHC1provided by HGNC
Official Full Name
polyhomeotic homolog 1provided by HGNC
Primary source
HGNC:HGNC:3182
See related
Ensembl:ENSG00000111752 MIM:602978
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
EDR1; HPH1; RAE28; MCPH11
Summary
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]
Expression
Ubiquitous expression in testis (RPKM 40.0), endometrium (RPKM 27.7) and 25 other tissues See more
Orthologs

Genomic context

See PHC1 in Genome Data Viewer
Location:
12p13.31
Exon count:
16
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (8914509..8941467)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (9067292..9094063)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ribosomal modification protein rimK like family member B Neighboring gene ribosomal protein SA pseudogene 51 Neighboring gene alpha-2-macroglobulin like 1 Neighboring gene mannose-6-phosphate receptor, cation dependent Neighboring gene killer cell lectin like receptor G1 Neighboring gene VDAC2 pseudogene 2 Neighboring gene long intergenic non-protein coding RNA 612

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Phenotypes

Associated conditions

Description Tests
Discovery and refinement of loci associated with lipid levels.
GeneReviews: Not available
Primary autosomal recessive microcephaly 11
MedGen: C3809431 OMIM: 615414 GeneReviews: Not available
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Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding IEA
Inferred from Electronic Annotation
more info
 
chromatin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
histone binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
zinc ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
histone ubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
multicellular organism development IEA
Inferred from Electronic Annotation
more info
 
negative regulation of G0 to G1 transition TAS
Traceable Author Statement
more info
 
negative regulation of transcription, DNA-templated IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
PRC1 complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
PRC1 complex IDA
Inferred from Direct Assay
more info
PubMed 
PcG protein complex IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
polyhomeotic-like protein 1
Names
early development regulator 1 (homolog of polyhomeotic 1)
early development regulatory protein 1
polyhomeotic-like 1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_042273.1 RefSeqGene

    Range
    4790..31748
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_004426.3NP_004417.2  polyhomeotic-like protein 1

    See identical proteins and their annotated locations for NP_004417.2

    Status: REVIEWED

    Source sequence(s)
    AC006581, BC073964, BM473731, BX640639, CN388283, CN388285, CN388316, U89277
    Consensus CDS
    CCDS8597.1
    UniProtKB/Swiss-Prot
    P78364
    UniProtKB/TrEMBL
    Q6GMQ3, Q6N083
    Related
    ENSP00000437659.1, ENST00000544916.6
    Conserved Domains (4) summary
    cd09577
    Location:9351003
    SAM_Ph1,2,3; SAM domain of Ph (polyhomeotic) proteins of Polycomb group
    smart00454
    Location:9371004
    SAM; Sterile alpha motif
    pfam06467
    Location:792827
    zf-FCS; MYM-type Zinc finger with FCS sequence motif
    pfam16616
    Location:828934
    PHC2_SAM_assoc; Unstructured region on Polyhomeotic-like protein 1 and 2

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    8914509..8941467
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011520603.2XP_011518905.1  polyhomeotic-like protein 1 isoform X1

    See identical proteins and their annotated locations for XP_011518905.1

    Conserved Domains (4) summary
    cd09577
    Location:9521020
    SAM_Ph1,2,3; SAM domain of Ph (polyhomeotic) proteins of Polycomb group
    smart00454
    Location:9541021
    SAM; Sterile alpha motif
    pfam06467
    Location:809844
    zf-FCS; MYM-type Zinc finger with FCS sequence motif
    pfam16616
    Location:845951
    PHC2_SAM_assoc; Unstructured region on Polyhomeotic-like protein 1 and 2
  2. XM_005253334.3XP_005253391.1  polyhomeotic-like protein 1 isoform X3

    Related
    ENSP00000399194.2, ENST00000433083.6
    Conserved Domains (4) summary
    cd09577
    Location:927995
    SAM_Ph1,2,3; SAM domain of Ph (polyhomeotic) proteins of Polycomb group
    smart00454
    Location:929996
    SAM; Sterile alpha motif
    pfam06467
    Location:784819
    zf-FCS; MYM-type Zinc finger with FCS sequence motif
    pfam16616
    Location:820926
    PHC2_SAM_assoc; Unstructured region on Polyhomeotic-like protein 1 and 2
  3. XM_011520599.2XP_011518901.1  polyhomeotic-like protein 1 isoform X2

    Conserved Domains (4) summary
    cd09577
    Location:9441012
    SAM_Ph1,2,3; SAM domain of Ph (polyhomeotic) proteins of Polycomb group
    smart00454
    Location:9461013
    SAM; Sterile alpha motif
    pfam06467
    Location:801836
    zf-FCS; MYM-type Zinc finger with FCS sequence motif
    pfam16616
    Location:837943
    PHC2_SAM_assoc; Unstructured region on Polyhomeotic-like protein 1 and 2
  4. XM_011520600.2XP_011518902.1  polyhomeotic-like protein 1 isoform X4

    Conserved Domains (4) summary
    cd09577
    Location:902970
    SAM_Ph1,2,3; SAM domain of Ph (polyhomeotic) proteins of Polycomb group
    smart00454
    Location:904971
    SAM; Sterile alpha motif
    pfam06467
    Location:759794
    zf-FCS; MYM-type Zinc finger with FCS sequence motif
    pfam16616
    Location:795901
    PHC2_SAM_assoc; Unstructured region on Polyhomeotic-like protein 1 and 2
  5. XM_017018956.1XP_016874445.1  polyhomeotic-like protein 1 isoform X5

  6. XM_017018957.1XP_016874446.1  polyhomeotic-like protein 1 isoform X6

  7. XM_017018958.1XP_016874447.1  polyhomeotic-like protein 1 isoform X7

  8. XM_017018955.2XP_016874444.1  polyhomeotic-like protein 1 isoform X1

    Conserved Domains (4) summary
    cd09577
    Location:9521020
    SAM_Ph1,2,3; SAM domain of Ph (polyhomeotic) proteins of Polycomb group
    smart00454
    Location:9541021
    SAM; Sterile alpha motif
    pfam06467
    Location:809844
    zf-FCS; MYM-type Zinc finger with FCS sequence motif
    pfam16616
    Location:845951
    PHC2_SAM_assoc; Unstructured region on Polyhomeotic-like protein 1 and 2
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