Version 5.4
Homo sapiens Gene: PHF6
Summary
InnateDB Gene IDBG-86805.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol PHF6
Gene Name PHD finger protein 6
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000156531
Encoded Proteins
IDBP-86807
PHD finger protein 6
IDBP-86809
PHD finger protein 6
IDBP-86811
PHD finger protein 6
IDBP-86813
PHD finger protein 6
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene is a member of the plant homeodomain (PHD)-like finger (PHF) family. It encodes a protein with two PHD-type zinc finger domains, indicating a potential role in transcriptional regulation, that localizes to the nucleolus. Mutations affecting the coding region of this gene or the splicing of the transcript have been associated with Borjeson-Forssman-Lehmann syndrome (BFLS), a disorder characterized by mental retardation, epilepsy, hypogonadism, hypometabolism, obesity, swelling of subcutaneous tissue of the face, narrow palpebral fissures, and large ears. Alternate splicing results in multiple transcript variants, encoding different isoforms. [provided by RefSeq, Jun 2010]
Gene Information
Type Protein coding
Genomic Location Chromosome X:134373253-134428790
Strand Forward strand
Band q26.2
Transcripts
ENST00000370803 ENSP00000359839
ENST00000332070 ENSP00000329097
ENST00000370800 ENSP00000359836
ENST00000370799 ENSP00000359835
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
Biological Process
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
Cellular Component
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005730 nucleolus
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000025626
View Gene Order
ENSBTAG00000015196
Not yet available
Cross-References
SwissProt Q8IWS0
TrEMBL B4E138 Q5JRC6
UniProt Splice Variant
Entrez Gene 84295
UniGene Hs.356501 Hs.597989 Hs.629209
RefSeq NM_001015877 NM_032335 NM_032458
HUGO HGNC:18145
OMIM 300414
CCDS CCDS14639 CCDS14640
HPRD
IMGT
EMBL AB058726 AC004383 AK290095 AK303369 AK303647 AL591668 AY157622 BC005994 CH471107
GenPept AAH05994 AAO13214 BAB47452 BAF82784 BAG64426 BAG64650 CAI41600 CAI41601 EAX11762 EAX11763 EAX11765 EAX11766
RNA Seq Atlas 84295

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca