PHF6: Difference between revisions

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{{Infobox_gene}}
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'''PHD finger protein 6''' is a [[protein]] that in humans is encoded by the ''PHF6'' [[gene]].<ref name="pmid12415272">{{cite journal |vauthors=Lower KM, Turner G, Kerr BA, Mathews KD, Shaw MA, Gedeon AK, Schelley S, Hoyme HE, White SM, Delatycki MB, Lampe AK, Clayton-Smith J, Stewart H, van Ravenswaay CM, de Vries BB, Cox B, Grompe M, Ross S, Thomas P, Mulley JC, Gecz J | title = Mutations in PHF6 are associated with Borjeson-Forssman-Lehmann syndrome | journal = Nat Genet | volume = 32 | issue = 4 | pages = 661–665 |date=Nov 2002 | pmid = 12415272 | pmc =  | doi = 10.1038/ng1040 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: PHF6 PHD finger protein 6| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=84295| accessdate = }}</ref>
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<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
{{GNF_Protein_box
| image = 
| image_source = 
| PDB =
| Name = PHD finger protein 6
| HGNCid = 18145
| Symbol = PHF6
| AltSymbols =; BORJ; MGC14797
| OMIM = 300414
| ECnumber = 
| Homologene = 12375
| MGIid = 1918248
| GeneAtlas_image1 = PBB_GE_PHF6_gnf1h00721_at_tn.png
| Function = {{GNF_GO|id=GO:0005515 |text = protein binding}} {{GNF_GO|id=GO:0008270 |text = zinc ion binding}} {{GNF_GO|id=GO:0046872 |text = metal ion binding}}
| Component = {{GNF_GO|id=GO:0005634 |text = nucleus}}
| Process = {{GNF_GO|id=GO:0006350 |text = transcription}} {{GNF_GO|id=GO:0006355 |text = regulation of transcription, DNA-dependent}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 84295
    | Hs_Ensembl = ENSG00000156531
    | Hs_RefseqProtein = NP_001015877
    | Hs_RefseqmRNA = NM_001015877
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = X
    | Hs_GenLoc_start = 133334949
    | Hs_GenLoc_end = 133390486
    | Hs_Uniprot = Q8IWS0
    | Mm_EntrezGene = 70998
    | Mm_Ensembl = ENSMUSG00000025626
    | Mm_RefseqmRNA = NM_027642
    | Mm_RefseqProtein = NP_081918
    | Mm_GenLoc_db =   
    | Mm_GenLoc_chr = X
    | Mm_GenLoc_start = 49161226
    | Mm_GenLoc_end = 49198205
    | Mm_Uniprot = Q3UXP1
  }}
}}
'''PHD finger protein 6''', also known as '''PHF6''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: PHF6 PHD finger protein 6| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=84295| accessdate = }}</ref>


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
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{{PBB_Summary
{{PBB_Summary
| section_title =  
| section_title =  
| summary_text = 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 transcriptional splice variants, encoding different isoforms, have been characterized.<ref name="entrez">{{cite web | title = Entrez Gene: PHF6 PHD finger protein 6| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=84295| accessdate = }}</ref>
| summary_text = This gene is a member of the [[PHD finger|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 transcriptional splice variants, encoding different isoforms, have been characterized.<ref name="entrez" />
}}
}}


==References==
==References==
{{reflist|2}}
{{reflist}}
 
==Further reading==
==Further reading==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading  
{{PBB_Further_reading  
| citations =  
| citations =  
*{{cite journal  | author=Nagase T, Nakayama M, Nakajima D, ''et al.'' |title=Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. |journal=DNA Res. |volume=8 |issue= 2 |pages= 85-95 |year= 2001 |pmid= 11347906 |doi=  }}
*{{cite journal  | author=Nagase T |title=Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro |journal=DNA Res. |volume=8 |issue= 2 |pages= 85–95 |year= 2001 |pmid= 11347906 |doi=10.1093/dnares/8.2.85 |name-list-format=vanc| author2=Nakayama M  | author3=Nakajima D  | display-authors=3  | last4=Kikuno  | first4=R  | last5=Ohara  | first5=O  }}
*{{cite journal  | author=Lower KM, Turner G, Kerr BA, ''et al.'' |title=Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome. |journal=Nat. Genet. |volume=32 |issue= 4 |pages= 661-5 |year= 2003 |pmid= 12415272 |doi= 10.1038/ng1040 }}
*{{cite journal  | author=Strausberg RL |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–16903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241  |name-list-format=vanc| author2=Feingold EA  | author3=Grouse LH  | display-authors=3  | last4=Derge  | first4=JG  | last5=Klausner  | first5=RD  | last6=Collins  | first6=FS  | last7=Wagner  | first7=L  | last8=Shenmen  | first8=CM  | last9=Schuler  | first9=GD }}
*{{cite journal  | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
*{{cite journal  | author=Baumstark A |title=Novel PHF6 mutation p.D333del causes Börjeson-Forssman-Lehmann syndrome |journal=J. Med. Genet. |volume=40 |issue= 4 |pages= 50e–50 |year= 2003 |pmid= 12676923 |doi=10.1136/jmg.40.4.e50  | pmc=1735415  |name-list-format=vanc| author2=Lower KM  | author3=Sinkus A  | display-authors=3  | last4=Andriuskeviciute  | first4=I  | last5=Jurkeniene  | first5=L  | last6=Gécz  | first6=J  | last7=Just  | first7=W }}
*{{cite journal  | author=Baumstark A, Lower KM, Sinkus A, ''et al.'' |title=Novel PHF6 mutation p.D333del causes Börjeson-Forssman-Lehmann syndrome. |journal=J. Med. Genet. |volume=40 |issue= 4 |pages= e50 |year= 2003 |pmid= 12676923 |doi=  }}
*{{cite journal  | author=Dattani MT |title=Borjeson-Forssman-Lehmann syndrome: a novel pituitary phenotype due to mutation in a novel gene |journal=J. Pediatr. Endocrinol. Metab. |volume=16 |issue= 9 |pages= 1207–9 |year= 2004 |pmid= 14714741 |doi=  10.1515/jpem.2003.16.9.1207}}
*{{cite journal  | author=Dattani MT |title=Borjeson-Forssman-Lehmann syndrome: a novel pituitary phenotype due to mutation in a novel gene. |journal=J. Pediatr. Endocrinol. Metab. |volume=16 |issue= 9 |pages= 1207-9 |year= 2004 |pmid= 14714741 |doi=  }}
*{{cite journal  | author=Birrell G |title=Borjeson-Forssman-Lehmann syndrome and multiple pituitary hormone deficiency |journal=J. Pediatr. Endocrinol. Metab. |volume=16 |issue= 9 |pages= 1295–300 |year= 2004 |pmid= 14714754 |doi= |name-list-format=vanc| author2=Lampe A  | author3=Richmond S  | display-authors=3  | last4=Bruce  | first4=SN  | last5=Gécz  | first5=J  | last6=Lower  | first6=K  | last7=Wright  | first7=M  | last8=Cheetham  | first8=TD }}
*{{cite journal  | author=Birrell G, Lampe A, Richmond S, ''et al.'' |title=Borjeson-Forssman-Lehmann syndrome and multiple pituitary hormone deficiency. |journal=J. Pediatr. Endocrinol. Metab. |volume=16 |issue= 9 |pages= 1295-300 |year= 2004 |pmid= 14714754 |doi=  }}
*{{cite journal  | author=Turner G |title=The clinical picture of the Börjeson-Forssman-Lehmann syndrome in males and heterozygous females with PHF6 mutations |journal=Clin. Genet. |volume=65 |issue= 3 |pages= 226–232 |year= 2004 |pmid= 14756673 |doi=10.1111/j.0009-9163.2004.00215.x  |name-list-format=vanc| author2=Lower KM  | author3=White SM  | display-authors=3  | last4=Delatycki  | first4=M  | last5=Lampe  | first5=AK  | last6=Wright  | first6=M  | last7=Smith  | first7=J Clayton-  | last8=Kerr  | first8=B  | last9=Schelley  | first9=S }}
*{{cite journal  | author=Turner G, Lower KM, White SM, ''et al.'' |title=The clinical picture of the Börjeson-Forssman-Lehmann syndrome in males and heterozygous females with PHF6 mutations. |journal=Clin. Genet. |volume=65 |issue= 3 |pages= 226-32 |year= 2004 |pmid= 14756673 |doi=  }}
*{{cite journal  | author=Lower KM |title=1024C> T (R342X) is a recurrent PHF6 mutation also found in the original Börjeson-Forssman-Lehmann syndrome family |journal=Eur. J. Hum. Genet. |volume=12 |issue= 10 |pages= 787–789 |year= 2005 |pmid= 15241480 |doi= 10.1038/sj.ejhg.5201228 |name-list-format=vanc| author2=Solders G  | author3=Bondeson ML  | display-authors=3  | last4=Nelson  | first4=John  | last5=Brun  | first5=Arne  | last6=Crawford  | first6=Joanna  | last7=Malm  | first7=Gunilla  | last8=Börjeson  | first8=Mats  | last9=Turner  | first9=Gillian }}
*{{cite journal  | author=Lower KM, Solders G, Bondeson ML, ''et al.'' |title=1024C> T (R342X) is a recurrent PHF6 mutation also found in the original Börjeson-Forssman-Lehmann syndrome family. |journal=Eur. J. Hum. Genet. |volume=12 |issue= 10 |pages= 787-9 |year= 2005 |pmid= 15241480 |doi= 10.1038/sj.ejhg.5201228 }}
*{{cite journal  | author=Vallée D |title=A novel PHF6 mutation results in enhanced exon skipping and mild Börjeson-Forssman-Lehmann syndrome |journal=J. Med. Genet. |volume=41 |issue= 10 |pages= 778–783 |year= 2005 |pmid= 15466013 |doi= 10.1136/jmg.2004.020370 | pmc=1735599  |name-list-format=vanc| author2=Chevrier E  | author3=Graham GE  | display-authors=3  | last4=Lazzaro  | first4=MA  | last5=Lavigne  | first5=PA  | last6=Hunter  | first6=AG  | last7=Picketts  | first7=DJ }}
*{{cite journal  | author=Vallée D, Chevrier E, Graham GE, ''et al.'' |title=A novel PHF6 mutation results in enhanced exon skipping and mild Börjeson-Forssman-Lehmann syndrome. |journal=J. Med. Genet. |volume=41 |issue= 10 |pages= 778-83 |year= 2005 |pmid= 15466013 |doi= 10.1136/jmg.2004.020370 }}
*{{cite journal  | author=Gerhard DS |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC) |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–2127 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 | pmc=528928  |name-list-format=vanc| author2=Wagner L  | author3=Feingold EA  | display-authors=3  | last4=Shenmen  | first4=CM  | last5=Grouse  | first5=LH  | last6=Schuler  | first6=G  | last7=Klein  | first7=SL  | last8=Old  | first8=S  | last9=Rasooly  | first9=R }}
*{{cite journal  | author=Gerhard DS, Wagner L, Feingold EA, ''et al.'' |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121-7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 }}
*{{cite journal  | author=Andersen JS |title=Nucleolar proteome dynamics |journal=Nature |volume=433 |issue= 7021 |pages= 77–83 |year= 2005 |pmid= 15635413 |doi= 10.1038/nature03207 |name-list-format=vanc| author2=Lam YW  | author3=Leung AK  | display-authors=3  | last4=Ong  | first4=Shao-En  | last5=Lyon  | first5=Carol E.  | last6=Lamond  | first6=Angus I.  | last7=Mann  | first7=Matthias }}
*{{cite journal  | author=Andersen JS, Lam YW, Leung AK, ''et al.'' |title=Nucleolar proteome dynamics. |journal=Nature |volume=433 |issue= 7021 |pages= 77-83 |year= 2005 |pmid= 15635413 |doi= 10.1038/nature03207 }}
*{{cite journal  | author=Ross MT |title=The DNA sequence of the human X chromosome |journal=Nature |volume=434 |issue= 7031 |pages= 325–337 |year= 2005 |pmid= 15772651 |doi= 10.1038/nature03440 | pmc=2665286  |name-list-format=vanc| author2=Grafham DV  | author3=Coffey AJ  | display-authors=3  | last4=Scherer  | first4=Steven  | last5=McLay  | first5=Kirsten  | last6=Muzny  | first6=Donna  | last7=Platzer  | first7=Matthias  | last8=Howell  | first8=Gareth R.  | last9=Burrows  | first9=Christine }}
*{{cite journal  | author=Ross MT, Grafham DV, Coffey AJ, ''et al.'' |title=The DNA sequence of the human X chromosome. |journal=Nature |volume=434 |issue= 7031 |pages= 325-37 |year= 2005 |pmid= 15772651 |doi= 10.1038/nature03440 }}
*{{cite journal  | author=Crawford J |title=Mutation screening in Borjeson-Forssman-Lehmann syndrome: identification of a novel de novo PHF6 mutation in a female patient |journal=J. Med. Genet. |volume=43 |issue= 3 |pages= 238–243 |year= 2006 |pmid= 15994862 |doi= 10.1136/jmg.2005.033084 | pmc=2563250  |name-list-format=vanc| author2=Lower KM  | author3=Hennekam RC  | display-authors=3  | last4=Van Esch  | first4=H  | last5=Mégarbané  | first5=A  | last6=Lynch  | first6=SA  | last7=Turner  | first7=G  | last8=Gécz  | first8=J }}
*{{cite journal  | author=Crawford J, Lower KM, Hennekam RC, ''et al.'' |title=Mutation screening in Borjeson-Forssman-Lehmann syndrome: identification of a novel de novo PHF6 mutation in a female patient. |journal=J. Med. Genet. |volume=43 |issue= 3 |pages= 238-43 |year= 2006 |pmid= 15994862 |doi= 10.1136/jmg.2005.033084 }}
*{{cite journal  | author=Olsen JV |title=Global, in vivo, and site-specific phosphorylation dynamics in signaling networks |journal=Cell |volume=127 |issue= 3 |pages= 635–648 |year= 2006 |pmid= 17081983 |doi= 10.1016/j.cell.2006.09.026 |name-list-format=vanc| author2=Blagoev B  | author3=Gnad F  | display-authors=3  | last4=Macek  | first4=Boris  | last5=Kumar  | first5=Chanchal  | last6=Mortensen  | first6=Peter  | last7=Mann  | first7=Matthias }}
*{{cite journal  | author=Olsen JV, Blagoev B, Gnad F, ''et al.'' |title=Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. |journal=Cell |volume=127 |issue= 3 |pages= 635-48 |year= 2006 |pmid= 17081983 |doi= 10.1016/j.cell.2006.09.026 }}
}}
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* {{MeshName|PHF6+protein,+human}}
* {{MeshName|PHF6+protein,+human}}


{{NLM content}}
{{Transcription factors|g3}}
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[[Category:Transcription factors]]
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Revision as of 18:03, 7 September 2017

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

PHD finger protein 6 is a protein that in humans is encoded by the PHF6 gene.[1][2]

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 transcriptional splice variants, encoding different isoforms, have been characterized.[2]

References

  1. ↑ Lower KM, Turner G, Kerr BA, Mathews KD, Shaw MA, Gedeon AK, Schelley S, Hoyme HE, White SM, Delatycki MB, Lampe AK, Clayton-Smith J, Stewart H, van Ravenswaay CM, de Vries BB, Cox B, Grompe M, Ross S, Thomas P, Mulley JC, Gecz J (Nov 2002). "Mutations in PHF6 are associated with Borjeson-Forssman-Lehmann syndrome". Nat Genet. 32 (4): 661–665. doi:10.1038/ng1040. PMID 12415272.
  2. ↑ 2.0 2.1 "Entrez Gene: PHF6 PHD finger protein 6".

Further reading

External links

This article incorporates text from the United States National Library of Medicine, which is in the public domain.


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