• Gene id: 1911

Gene Summary

• Gene Symbol: PHC1   Gene   UCSC   Ensembl
• Aliases: EDR1, HPH1, MCPH11, RAE28
• Gene name: polyhomeotic homolog 1
• Alternate names: polyhomeotic-like protein 1, early development regulator 1 (homolog of polyhomeotic 1), early development regulatory protein 1, polyhomeotic-like 1,
• Gene location: 12p13.31 (8914508: 8941466)     Exons: 16     NC_000012.12
• Gene summary(Entrez): 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, th
• OMIM: 602978

Protein Summary

• Protein general information: P78364  
  • Name: Polyhomeotic like protein 1 (hPH1) (Early development regulatory protein 1)
  • Length: 1004  
  • Mass: 105534
• Sequence:

  METESEQNSNSTNGSSSSGGSSRPQIAQMSLYERQAVQALQALQRQPNAAQYFHQFMLQQQLSNAQLHSLAAVQQ
  ATIAASRQASSPNTSTTQQQTTTTQASINLATTSAAQLISRSQSVSSPSATTLTQSVLLGNTTSPPLNQSQAQMY
  LRPQLGNLLQVNRTLGRNVPLASQLILMPNGAVAAVQQEVPSAQSPGVHADADQVQNLAVRNQQASAQGPQMQGS
  TQKAIPPGASPVSSLSQASSQALAVAQASSGATNQSLNLSQAGGGSGNSIPGSMGPGGGGQAHGGLGQLPSSGMG
  GGSCPRKGTGVVQPLPAAQTVTVSQGSQTEAESAAAKKAEADGSGQQNVGMNLTRTATPAPSQTLISSATYTQIQ
  PHSLIQQQQQIHLQQKQVVIQQQIAIHHQQQFQHRQSQLLHTATHLQLAQQQQQQQQQQQQQQQPQATTLTAPQP
  PQVPPTQQVPPSQSQQQAQTLVVQPMLQSSPLSLPPDAAPKPPIPIQSKPPVAPIKPPQLGAAKMSAAQQPPPHI
  PVQVVGTRQPGTAQAQALGLAQLAAAVPTSRGMPGTVQSGQAHLASSPPSSQAPGALQECPPTLAPGMTLAPVQG
  TAHVVKGGATTSSPVVAQVPAAFYMQSVHLPGKPQTLAVKRKADSEEERDDVSTLGSMLPAKASPVAESPKVMDE
  KSSLGEKAESVANVNANTPSSELVALTPAPSVPPPTLAMVSRQMGDSKPPQAIVKPQILTHIIEGFVIQEGAEPF
  PVGCSQLLKESEKPLQTGLPTGLTENQSGGPLGVDSPSAELDKKANLLKCEYCGKYAPAEQFRGSKRFCSMTCAK
  RYNVSCSHQFRLKRKKMKEFQEANYARVRRRGPRRSSSDIARAKIQGKCHRGQEDSSRGSDNSSYDEALSPTSPG
  PLSVRAGHGERDLGNPNTAPPTPELHGINPVFLSSNPSRWSVEEVYEFIASLQGCQEIAEEFRSQEIDGQALLLL
  KEEHLMSAMNIKLGPALKICAKINVLKET

• Structural information:
  • Protein Domains: (940..100-)
    (/note="SAM-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00184"-)
  • Interpro: IPR001660  IPR013761  IPR012313  IPR038603  
  • Prosite: PS50105 PS51024
  • PDB: 2L8E
  • PDBsum: 2L8E
  • DIP: 44567
  • STRING: ENSP00000440674
• Other Databases: GeneCards:  PHC1  Malacards:  PHC1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0045892	negative regulation of transcription, DNA-templated	IBA	biological process
GO:0042393	histone binding	IBA	molecular function
GO:0035102	PRC1 complex	IBA	cellular component
GO:0003682	chromatin binding	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0035102	PRC1 complex	IDA	cellular component
GO:0035102	PRC1 complex	IDA	cellular component
GO:0016574	histone ubiquitination	IDA	biological process
GO:0031519	PcG protein complex	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0008270	zinc ion binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0007275	multicellular organism development	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0070317	negative regulation of G0 to G1 transition	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component

Diseases

Associated diseases	References
Primary microcephaly	KEGG:H00269
Primary microcephaly	KEGG:H00269
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881