LOCUS       NM_001015877            4430 bp    mRNA    linear   PRI 03-SEP-2024
DEFINITION  Homo sapiens PHD finger protein 6 (PHF6), transcript variant 1,
            mRNA.
ACCESSION   NM_001015877
VERSION     NM_001015877.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4430)
  AUTHORS   Mittal,P., Myers,J.A., Carter,R.D., Radko-Juettner,S., Malone,H.A.,
            Rosikiewicz,W., Robertson,A.N., Zhu,Z., Narayanan,I.V.,
            Hansen,B.S., Parrish,M., Bhanu,N.V., Mobley,R.J., Rehg,J.E., Xu,B.,
            Drosos,Y., Pruett-Miller,S.M., Ljungman,M., Garcia,B.A., Wu,G.,
            Partridge,J.F. and Roberts,C.W.M.
  TITLE     PHF6 cooperates with SWI/SNF complexes to facilitate
            transcriptional progression
  JOURNAL   Nat Commun 15 (1), 7303 (2024)
   PUBMED   39181868
  REMARK    GeneRIF: PHF6 cooperates with SWI/SNF complexes to facilitate
            transcriptional progression.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 4430)
  AUTHORS   Kubota,Y., Gu,X., Terkawi,L., Bodo,J., Przychodzen,B.P., Awada,H.,
            Williams,N., Gurnari,C., Kawashima,N., Aly,M., Durmaz,A., Mori,M.,
            Ponvilawan,B., Kewan,T., Bahaj,W., Meggendorfer,M., Jha,B.K.,
            Visconte,V., Rogers,H.J., Haferlach,T. and Maciejewski,J.P.
  TITLE     Molecular and clinical analyses of PHF6 mutant myeloid neoplasia
            provide their pathogenesis and therapeutic targeting
  JOURNAL   Nat Commun 15 (1), 1832 (2024)
   PUBMED   38418452
  REMARK    GeneRIF: Molecular and clinical analyses of PHF6 mutant myeloid
            neoplasia provide their pathogenesis and therapeutic targeting.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 4430)
  AUTHORS   Erdogan,G., Ozes,O.N., Kupesiz,A. and Yoldas,S.B.
  TITLE     Investigating the physiological role of S199A and S199D mutants of
            PHF6 protein in T-cell acute lymphoblastic leukemia
  JOURNAL   Turk J Med Sci 53 (5), 1234-1243 (2023)
   PUBMED   38812997
  REMARK    GeneRIF: Investigating the physiological role of S199A and S199D
            mutants of PHF6 protein in T-cell acute lymphoblastic leukemia.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 4430)
  AUTHORS   Gao,S., Zhang,W., Ma,J. and Ni,X.
  TITLE     PHF6 recruits BPTF to promote HIF-dependent pathway and progression
            in YAP-high breast cancer
  JOURNAL   J Transl Med 21 (1), 220 (2023)
   PUBMED   36967443
  REMARK    GeneRIF: PHF6 recruits BPTF to promote HIF-dependent pathway and
            progression in YAP-high breast cancer.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 4430)
  AUTHORS   Wang,X., Fang,A., Peng,Y., Yu,J., Yu,C., Xie,J., Zheng,Y., Song,L.,
            Li,P., Li,J., Kang,X., Lin,Y. and Li,W.
  TITLE     PHF6 promotes the progression of endometrial carcinoma by
            increasing cancer cells growth and decreasing T-cell infiltration
  JOURNAL   J Cell Mol Med 27 (5), 609-621 (2023)
   PUBMED   36756714
  REMARK    GeneRIF: PHF6 promotes the progression of endometrial carcinoma by
            increasing cancer cells growth and decreasing T-cell infiltration.
REFERENCE   6  (bases 1 to 4430)
  AUTHORS   Turner,G., Lower,K.M., White,S.M., Delatycki,M., Lampe,A.K.,
            Wright,M., Smith,J.C., Kerr,B., Schelley,S., Hoyme,H.E., De
            Vries,B.B., Kleefstra,T., Grompe,M., Cox,B., Gecz,J. and
            Partington,M.
  TITLE     The clinical picture of the Borjeson-Forssman-Lehmann syndrome in
            males and heterozygous females with PHF6 mutations
  JOURNAL   Clin Genet 65 (3), 226-232 (2004)
   PUBMED   14756673
  REMARK    GeneRIF: A study of 9 families with PHF6 muations revealed that the
            phenotype is milder and more variable than previously described and
            evolves with age; seven missense mutations and two truncation
            mutations were identifed
REFERENCE   7  (bases 1 to 4430)
  AUTHORS   Birrell,G., Lampe,A., Richmond,S., Bruce,S.N., Gecz,J., Lower,K.,
            Wright,M. and Cheetham,T.D.
  TITLE     Borjeson-Forssman-Lehmann syndrome and multiple pituitary hormone
            deficiency
  JOURNAL   J Pediatr Endocrinol Metab 16 (9), 1295-1300 (2003)
   PUBMED   14714754
  REMARK    GeneRIF: 'The gene, PHF6, implicated in the
            Borjeson-Forssman-Lehmann syndrome has recently been identified.'
            p. 1295
REFERENCE   8  (bases 1 to 4430)
  AUTHORS   Dattani,M.T.
  TITLE     Borjeson-Forssman-Lehmann syndrome: a novel pituitary phenotype due
            to mutation in a novel gene
  JOURNAL   J Pediatr Endocrinol Metab 16 (9), 1207-1209 (2003)
   PUBMED   14714741
  REMARK    GeneRIF: '...mutations within a novel widely expressed zinc-finger
            gene (PHF6) have been described in nine families with
            Borjesson-Forssman-Lehmann syndrome...' p. 1208
REFERENCE   9  (bases 1 to 4430)
  AUTHORS   Baumstark,A., Lower,K.M., Sinkus,A., Andriuskeviciute,I.,
            Jurkeniene,L., Gecz,J. and Just,W.
  TITLE     Novel PHF6 mutation p.D333del causes Borjeson-Forssman-Lehmann
            syndrome
  JOURNAL   J Med Genet 40 (4), e50 (2003)
   PUBMED   12676923
REFERENCE   10 (bases 1 to 4430)
  AUTHORS   Lower,K.M., Turner,G., Kerr,B.A., Mathews,K.D., Shaw,M.A.,
            Gedeon,A.K., Schelley,S., Hoyme,H.E., White,S.M., Delatycki,M.B.,
            Lampe,A.K., Clayton-Smith,J., Stewart,H., van Ravenswaay,C.M., de
            Vries,B.B., Cox,B., Grompe,M., Ross,S., Thomas,P., Mulley,J.C. and
            Gecz,J.
  TITLE     Mutations in PHF6 are associated with Borjeson-Forssman-Lehmann
            syndrome
  JOURNAL   Nat Genet 32 (4), 661-665 (2002)
   PUBMED   12415272
  REMARK    GeneRIF: A novel, widely expressed zinc-finger (plant
            homeodomain[PHD]-like finger) gene had 8 different missense and
            truncation mutations in 7 familial and 2 sporadic cases of BFLS (p.
            661).
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AY157622.1, CF242973.1,
            BG122271.1, AB058726.1 and AW297001.1.
            
            On Jun 2, 2019 this sequence version replaced NM_001015877.1.
            
            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 cognitive disability, 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].
            
            Transcript Variant: This variant (1, also called the 'PHF6a'
            variant) represents the shortest transcript and encodes the
            shortest isoform (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803617.46990.1,
                                           SRR7346977.1907447.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000370803.8/ ENSP00000359839.4
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1299              AY157622.1         1-1299
            1300-1660           CF242973.1         439-799
            1661-2599           AY157622.1         1991-2929
            2600-3139           BG122271.1         94-633
            3140-4429           AB058726.1         3026-4315
            4430-4430           AW297001.1         19-19               c
FEATURES             Location/Qualifiers
     source          1..4430
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq26.2"
     gene            1..4430
                     /gene="PHF6"
                     /gene_synonym="BFLS; BORJ; CENP-31"
                     /note="PHD finger protein 6"
                     /db_xref="GeneID:84295"
                     /db_xref="HGNC:HGNC:18145"
                     /db_xref="MIM:300414"
     exon            1..156
                     /gene="PHF6"
                     /gene_synonym="BFLS; BORJ; CENP-31"
                     /inference="alignment:Splign:2.1.0"
     exon            157..340
                     /gene="PHF6"
                     /gene_synonym="BFLS; BORJ; CENP-31"
                     /inference="alignment:Splign:2.1.0"
     CDS             203..1300
                     /gene="PHF6"
                     /gene_synonym="BFLS; BORJ; CENP-31"
                     /note="isoform 1 is encoded by transcript variant 1;
                     PHD-like zinc finger protein; centromere protein 31"
                     /codon_start=1
                     /product="PHD finger protein 6 isoform 1"
                     /protein_id="NP_001015877.1"
                     /db_xref="CCDS:CCDS14639.1"
                     /db_xref="GeneID:84295"
                     /db_xref="HGNC:HGNC:18145"
                     /db_xref="MIM:300414"
                     /translation="MSSSVEQKKGPTRQRKCGFCKSNRDKECGQLLISENQKVAAHHK
                     CMLFSSALVSSHSDNESLGGFSIEDVQKEIKRGTKLMCSLCHCPGATIGCDVKTCHRT
                     YHYHCALHDKAQIREKPSQGIYMVYCRKHKKTAHNSEADLEESFNEHELEPSSPKSKK
                     KSRKGRPRKTNFKGLSEDTRSTSSHGTDEMESSSYRDRSPHRSSPSDTRPKCGFCHVG
                     EEENEARGKLHIFNAKKAAAHYKCMLFSSGTVQLTTTSRAEFGDFDIKTVLQEIKRGK
                     RMKCTLCSQPGATIGCEIKACVKTYHYHCGVQDKAKYIENMSRGIYKLYCKNHSGNDE
                     RDEEDEERESKSRGKVEIDQQQLTQQQLNGN"
     exon            341..442
                     /gene="PHF6"
                     /gene_synonym="BFLS; BORJ; CENP-31"
                     /inference="alignment:Splign:2.1.0"
     exon            443..576
                     /gene="PHF6"
                     /gene_synonym="BFLS; BORJ; CENP-31"
                     /inference="alignment:Splign:2.1.0"
     exon            577..620
                     /gene="PHF6"
                     /gene_synonym="BFLS; BORJ; CENP-31"
                     /inference="alignment:Splign:2.1.0"
     exon            621..787
                     /gene="PHF6"
                     /gene_synonym="BFLS; BORJ; CENP-31"
                     /inference="alignment:Splign:2.1.0"
     exon            788..931
                     /gene="PHF6"
                     /gene_synonym="BFLS; BORJ; CENP-31"
                     /inference="alignment:Splign:2.1.0"
     exon            932..1036
                     /gene="PHF6"
                     /gene_synonym="BFLS; BORJ; CENP-31"
                     /inference="alignment:Splign:2.1.0"
     exon            1037..1170
                     /gene="PHF6"
                     /gene_synonym="BFLS; BORJ; CENP-31"
                     /inference="alignment:Splign:2.1.0"
     exon            1171..1300
                     /gene="PHF6"
                     /gene_synonym="BFLS; BORJ; CENP-31"
                     /inference="alignment:Splign:2.1.0"
     exon            1301..4430
                     /gene="PHF6"
                     /gene_synonym="BFLS; BORJ; CENP-31"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4409..4414
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PHF6"
                     /gene_synonym="BFLS; BORJ; CENP-31"
                     /note="hexamer: AATAAA"
     polyA_site      4430
                     /gene="PHF6"
                     /gene_synonym="BFLS; BORJ; CENP-31"
                     /note="major polyA site"
ORIGIN      
        1 aagggcgctc cgcgagcccg tctctcctcg aatgaaagga aacaacctcc ggcgacagag
       61 ccccgctctc aggcactgct ggagaaccga gaccgacttc tttctcttta ccctcattgg
      121 cgcttctctc ctgcagtccg cctctgggcc ctgccgcatt tcttgagact taaagtggca
      181 ttctaaaggc aatttaaaaa tcatgtcaag ctcagttgaa cagaaaaaag ggcctacaag
      241 acagcgcaaa tgtggctttt gtaagtcaaa tagagacaag gaatgtggac agttactaat
      301 atctgaaaac cagaaggtgg cagcgcacca taagtgcatg ctcttttcat ctgctttggt
      361 atcatcacac tctgataatg aaagtcttgg tggattttct attgaagatg tccaaaagga
      421 aattaaaaga ggcacgaagc tgatgtgttc tttgtgccat tgtcctggag caacaattgg
      481 ttgtgatgtg aaaacatgtc acaggacata ccactaccac tgtgcattgc atgataaagc
      541 tcaaatacga gagaaacctt cacaaggaat ttacatggtc tattgccgaa aacacaagaa
      601 aactgcacat aactccgaag ctgatttaga agaaagtttt aatgaacatg aactggagcc
      661 ctcatcacct aaaagtaaaa agaaaagtcg caaaggaagg ccaagaaaaa ctaattttaa
      721 agggctgtca gaagatacca ggtccacatc ctcccatgga acagatgaaa tggaaagtag
      781 ttcctataga gataggtctc cacacagaag cagccctagt gacaccaggc ctaaatgtgg
      841 attttgccat gtaggggagg aagaaaatga agcacgagga aaactgcata tatttaatgc
      901 caagaaggca gctgcccatt ataagtgcat gttgttttct tctggcacag tccagctcac
      961 aacaacatca agagcagaat ttggagactt tgatattaaa actgtacttc aggagattaa
     1021 acgaggaaaa agaatgaaat gtacactttg cagtcagcct ggtgctacta ttggatgtga
     1081 aataaaagcc tgtgttaaga cttaccatta ccactgtgga gtacaagaca aagctaaata
     1141 cattgaaaat atgtcacgag gaatttacaa actatactgt aaaaatcata gtggaaatga
     1201 tgagagagat gaagaagatg aggaacgaga gagtaaaagc cgaggaaaag tagaaattga
     1261 tcagcaacaa ctaactcagc agcaacttaa tggaaactag gttcatggga cagagttaga
     1321 aaactgggaa tgaataagac atccataact actattcttt tttcactgtt ttctaaaatc
     1381 aaaaagggtt tgtaactttt tactgcccaa ctcttagatc cttcattgaa ctgcctaaaa
     1441 atgtcttgtt tgttttatga gccctcacta gaaggctgag tttgacatgt tgatattacg
     1501 tagctatagt ttgcagtttc tgggaagcaa ttgaaacact attaaccctg tgtatagtgt
     1561 caacagttaa agcagacgaa acgaagtaag ctatatttct ggactgaaca aagctctgct
     1621 gtttagagca tttaagtttg tttagtggat ccatactcaa aggaaagcat aagcaaattt
     1681 tcctttacaa tgcaaacatg ccactggtgg cagcacatgg taatttgtgg attttttttt
     1741 catactcaag taatggaggc tagaaatgaa gagaaccttc tttttctctt gactttgaca
     1801 gcacatgcta aaaatctctt ccaagaagta tgctaaagct tttcatttgg ttcctgttaa
     1861 agttgttctc actgaccagc atggactcag gcaactggta atgataagct atgagctcca
     1921 gtgcttttgc caaaattctc ttgacagcac acctcctctc tttccatgtt atacaaagga
     1981 cttctggcaa aatgattgag tccttcaagt ttaaactaac atttggcaac agcaaattaa
     2041 acgtttttaa gatgtaaaga aagggttacc gcttgctaag gacttcagac accatgtccg
     2101 aaacctgttc ctctcaagtg ccctgttgtg tggaacactt cacatattgg cgcacagtac
     2161 gtaaggaggt ctcatgtgct gtaggagtaa aaaagtcttt gcataaaaca gtatttattt
     2221 ttacttttgt gaccactatt ttagaaactt tatttaatat tttaatgttt tcagtcattg
     2281 ctttggttat ctataaaata ggcttttgtg ccctactttt cttcttgtag ggcttggtgg
     2341 tgttttatcg attgtcagaa ttgtttttga aagcctaaga acccagcttt ttagaaagga
     2401 ttttcacact ggcatttcta ggtagtgata ttttcttcca cttacctgct gaagcacatt
     2461 tatgcatttc tttatggcaa aaccaaataa ctttagttgt ggtctgcctg atactaccat
     2521 agcacctcag taccaagggg agggattttg actagttgaa ttattaagcc accacaataa
     2581 agcagatttt taaataagaa ataataatgt taacttgact gtacattgag atattctgca
     2641 gctgatagag cagcatttta aaaatgtaac aggtggaaaa ttacactgtg cttaatgact
     2701 gatttttttt taaactgcga gtcccttaag atcacgtttg tcaagtgtgt attcacacat
     2761 ttacttaaat caagggactc aatgcttgct tttattttaa ccatctttta ctatttttag
     2821 aaggaaacta gctttagtag tgggttgccc tgtatgtttt ctctttttgc tcttaatatg
     2881 ccattgggtt tttgtgtgta tgtgattttc aaaattcatg acttgaagtg caaggacaga
     2941 tctagatgtt tgtttaccaa gctatgtgac ttctcccaaa ggatctgtac tttctttcct
     3001 tacaacagct tgaaaatcat tattttaaaa tccttaaatc actgtgtcta gatcattttt
     3061 tacattgtgt gccatagact tacccatggg acaacagagc tccttcattt ttggacaact
     3121 actgtaatca tttttttttt aggaaaaatg gaaggtgccg ggggtaatca tggccagtca
     3181 ataattatat aaaggagttc aaatactata gctgtcagtt gatgaatttg ttatgtagta
     3241 aaatgtatga ctttgtatgg gtttcttcag ccctttttct gccactagca accagaatag
     3301 cactttacct tttggttggc tagataagtg gctgactacc tgtttttctc actgtggtgt
     3361 gattggctaa acaatctcgc attaaaaatt caaatgtaaa ttgaattcac atgaaaaatc
     3421 atgtttggtt gtaaacctcc aatgttttga ttctctaatc atgttttcgt cacatgctga
     3481 gtaaaagtgc cttacaatgt aaaaattgta cagtacttat gttcccaagt agcatcatca
     3541 tcttctgggt agtaattaca ttgtggtatt aatatttaga aaaatggacc tcagcagtgt
     3601 atttactgta catctcttaa gtccttaact gtagttttaa taagcatgac attatttgat
     3661 aagtatataa catttacatc atttcaaaaa atactgccgt tactgtcttt tatgcatatt
     3721 ttagcctgaa attttgaagc gtcttttttc tttctttttt ctttttttgt tttgtttttt
     3781 gttattgata ttaaacagtg taatctttgc aagcgtatat tgaagattat tctggagcat
     3841 ttattgcctt accagaaatg ttagtaggaa atgttcttta gagtagaaag atagacttga
     3901 gtttctatac ttttaagaag agctctttgt tcctggggga ggggggcagg gggtgaattt
     3961 tactttcatc tcaagttatt aaaaacccac aactgaagta aattttattt caagaatcag
     4021 cagttttaga atttcagata gtacttgctc agaagtacat gctactcaag atattaagag
     4081 ataacaagat ctgtagatct gctattgaat cagaatctgt gtacttgaac aaatgtgtga
     4141 atctcaaata tctcaaagca aaagaaaaag tgttctagag tgttgttgct tttttaaaaa
     4201 aagcgctgaa gttagaccaa ggtatacagt tttgttctaa cagacattta ggttaattgt
     4261 aaagataagg aatgcattat gggtcaaaaa tcaaacattc ctctcatgtt atgtatattt
     4321 tgttcctgtt atattggctt tattttcaaa attgtagttt gtagtattag tttcctttta
     4381 ttggtattct tgcatatact attcattcaa taaatgactt atgactttca
//
