InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: PHF6

Summary

InnateDB Protein

IDBP-86811.7

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

PHF6

Protein Name

PHD finger protein 6

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000359836

InnateDB Gene

IDBG-86805 (PHF6)

Protein Structure

UniProt Annotation

Function

Transcriptional regulator that associates with ribosomal RNA promoters and suppresses ribosomal RNA (rRNA) transcription. {ECO:0000269PubMed:23229552}.

Subcellular Localization

Nucleus. Nucleus, nucleolus. Note=Nuclear, it particularly localizes to the nucleolus.

Disease Associations

Boerjeson-Forssman-Lehmann syndrome (BFLS) [MIM:301900]: A X-linked recessive disorder characterized by moderate to severe mental retardation, epilepsy, hypogonadism, hypometabolism, obesity with marked gynecomastia, swelling of subcutaneous tissue of the face, narrow palpebral fissure and large but not deformed ears. {ECO:0000269PubMed:12415272}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Ubiquitously expressed. {ECO:0000269PubMed:12415272}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 8 experimentally validated interaction(s) in this database.

Experimentally validated
Total	8 [view]
Protein-Protein	8 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003677	DNA binding
GO:0005515	protein binding
GO:0008270	zinc ion binding
GO:0015631	tubulin binding
GO:0019899	enzyme binding
GO:0042393	histone binding
GO:0042826	histone deacetylase binding
GO:0043021	ribonucleoprotein complex binding
GO:0044822	poly(A) RNA binding
GO:0051219	phosphoprotein binding
GO:0097110	scaffold protein binding