LOCUS       NM_016483               2127 bp    mRNA    linear   PRI 06-JUN-2024
DEFINITION  Homo sapiens PHD finger protein 7 (PHF7), transcript variant 1,
            mRNA.
ACCESSION   NM_016483
VERSION     NM_016483.7
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 2127)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (bases 1 to 2127)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 2127)
  AUTHORS   Ripke,S., O'Dushlaine,C., Chambert,K., Moran,J.L., Kahler,A.K.,
            Akterin,S., Bergen,S.E., Collins,A.L., Crowley,J.J., Fromer,M.,
            Kim,Y., Lee,S.H., Magnusson,P.K., Sanchez,N., Stahl,E.A.,
            Williams,S., Wray,N.R., Xia,K., Bettella,F., Borglum,A.D.,
            Bulik-Sullivan,B.K., Cormican,P., Craddock,N., de Leeuw,C.,
            Durmishi,N., Gill,M., Golimbet,V., Hamshere,M.L., Holmans,P.,
            Hougaard,D.M., Kendler,K.S., Lin,K., Morris,D.W., Mors,O.,
            Mortensen,P.B., Neale,B.M., O'Neill,F.A., Owen,M.J.,
            Milovancevic,M.P., Posthuma,D., Powell,J., Richards,A.L.,
            Riley,B.P., Ruderfer,D., Rujescu,D., Sigurdsson,E., Silagadze,T.,
            Smit,A.B., Stefansson,H., Steinberg,S., Suvisaari,J., Tosato,S.,
            Verhage,M., Walters,J.T., Levinson,D.F., Gejman,P.V., Kendler,K.S.,
            Laurent,C., Mowry,B.J., O'Donovan,M.C., Owen,M.J., Pulver,A.E.,
            Riley,B.P., Schwab,S.G., Wildenauer,D.B., Dudbridge,F., Holmans,P.,
            Shi,J., Albus,M., Alexander,M., Campion,D., Cohen,D., Dikeos,D.,
            Duan,J., Eichhammer,P., Godard,S., Hansen,M., Lerer,F.B.,
            Liang,K.Y., Maier,W., Mallet,J., Nertney,D.A., Nestadt,G.,
            Norton,N., O'Neill,F.A., Papadimitriou,G.N., Ribble,R.,
            Sanders,A.R., Silverman,J.M., Walsh,D., Williams,N.M., Wormley,B.,
            Arranz,M.J., Bakker,S., Bender,S., Bramon,E., Collier,D.,
            Crespo-Facorro,B., Hall,J., Iyegbe,C., Jablensky,A., Kahn,R.S.,
            Kalaydjieva,L., Lawrie,S., Lewis,C.M., Lin,K., Linszen,D.H.,
            Mata,I., McIntosh,A., Murray,R.M., Ophoff,R.A., Powell,J.,
            Rujescu,D., Van Os,J., Walshe,M., Weisbrod,M., Wiersma,D.,
            Donnelly,P., Barroso,I., Blackwell,J.M., Bramon,E., Brown,M.A.,
            Casas,J.P., Corvin,A.P., Deloukas,P., Duncanson,A., Jankowski,J.,
            Markus,H.S., Mathew,C.G., Palmer,C.N., Plomin,R., Rautanen,A.,
            Sawcer,S.J., Trembath,R.C., Viswanathan,A.C., Wood,N.W.,
            Spencer,C.C., Band,G., Bellenguez,C., Freeman,C., Hellenthal,G.,
            Giannoulatou,E., Pirinen,M., Pearson,R.D., Strange,A., Su,Z.,
            Vukcevic,D., Donnelly,P., Langford,C., Hunt,S.E., Edkins,S.,
            Gwilliam,R., Blackburn,H., Bumpstead,S.J., Dronov,S., Gillman,M.,
            Gray,E., Hammond,N., Jayakumar,A., McCann,O.T., Liddle,J.,
            Potter,S.C., Ravindrarajah,R., Ricketts,M.,
            Tashakkori-Ghanbaria,A., Waller,M.J., Weston,P., Widaa,S.,
            Whittaker,P., Barroso,I., Deloukas,P., Mathew,C.G., Blackwell,J.M.,
            Brown,M.A., Corvin,A.P., McCarthy,M.I., Spencer,C.C., Bramon,E.,
            Corvin,A.P., O'Donovan,M.C., Stefansson,K., Scolnick,E.,
            Purcell,S., McCarroll,S.A., Sklar,P., Hultman,C.M. and
            Sullivan,P.F.
  CONSRTM   Multicenter Genetic Studies of Schizophrenia Consortium; Psychosis
            Endophenotypes International Consortium; Wellcome Trust Case
            Control Consortium 2
  TITLE     Genome-wide association analysis identifies 13 new risk loci for
            schizophrenia
  JOURNAL   Nat Genet 45 (10), 1150-1159 (2013)
   PUBMED   23974872
REFERENCE   4  (bases 1 to 2127)
  AUTHORS   Paradowska,A.S., Miller,D., Spiess,A.N., Vieweg,M., Cerna,M.,
            Dvorakova-Hortova,K., Bartkuhn,M., Schuppe,H.C., Weidner,W. and
            Steger,K.
  TITLE     Genome wide identification of promoter binding sites for H4K12ac in
            human sperm and its relevance for early embryonic development
  JOURNAL   Epigenetics 7 (9), 1057-1070 (2012)
   PUBMED   22894908
  REMARK    GeneRIF: PHF7 promoter binds H4K12ac in mature spermatozoa.
REFERENCE   5  (bases 1 to 2127)
  AUTHORS   Yang,S.Y., Baxter,E.M. and Van Doren,M.
  TITLE     Phf7 controls male sex determination in the Drosophila germline
  JOURNAL   Dev Cell 22 (5), 1041-1051 (2012)
   PUBMED   22595675
REFERENCE   6  (bases 1 to 2127)
  CONSRTM   Psychiatric GWAS Consortium Bipolar Disorder Working Group
  TITLE     Large-scale genome-wide association analysis of bipolar disorder
            identifies a new susceptibility locus near ODZ4
  JOURNAL   Nat Genet 43 (10), 977-983 (2011)
   PUBMED   21926972
  REMARK    Erratum:[Nat Genet. 2012 Sep;44(9):1072. Fullerton, Janice M
            [added]; Hyoun, Phil L [corrected to Lee, Phil H]; Meng, Fan Guo
            [corrected to Meng, Fan]]
            Publication Status: Online-Only
REFERENCE   7  (bases 1 to 2127)
  AUTHORS   de Mateo,S., Castillo,J., Estanyol,J.M., Ballesca,J.L. and Oliva,R.
  TITLE     Proteomic characterization of the human sperm nucleus
  JOURNAL   Proteomics 11 (13), 2714-2726 (2011)
   PUBMED   21630459
REFERENCE   8  (bases 1 to 2127)
  AUTHORS   Xiao,J., Xu,M., Li,J., Chang Chan,H., Lin,M., Zhu,H., Zhang,W.,
            Zhou,Z., Zhao,B. and Sha,J.
  TITLE     NYD-SP6, a novel gene potentially involved in regulating testicular
            development/spermatogenesis
  JOURNAL   Biochem Biophys Res Commun 291 (1), 101-110 (2002)
   PUBMED   11829468
REFERENCE   9  (bases 1 to 2127)
  AUTHORS   Aasland,R., Gibson,T.J. and Stewart,A.F.
  TITLE     The PHD finger: implications for chromatin-mediated transcriptional
            regulation
  JOURNAL   Trends Biochem Sci 20 (2), 56-59 (1995)
   PUBMED   7701562
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BG704704.1, BC022002.1 and
            AY014283.2.
            
            On Nov 23, 2018 this sequence version replaced NM_016483.6.
            
            Summary: Spermatogenesis is a complex process regulated by
            extracellular and intracellular factors as well as cellular
            interactions among interstitial cells of the testis, Sertoli cells,
            and germ cells. This gene is expressed in the testis in Sertoli
            cells but not germ cells. The protein encoded by this gene contains
            plant homeodomain (PHD) finger domains, also known as leukemia
            associated protein (LAP) domains, believed to be involved in
            transcriptional regulation. The protein, which localizes to the
            nucleus of transfected cells, has been implicated in the
            transcriptional regulation of spermatogenesis. Alternate splicing
            results in multiple transcript variants of this gene. [provided by
            RefSeq, May 2013].
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC022002.1, HM005574.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000327906.8/ ENSP00000333024.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-30                BG704704.1         160-189
            31-887              BC022002.1         42-898
            888-2016            AY014283.2         614-1742
            2017-2127           BC022002.1         2028-2138
FEATURES             Location/Qualifiers
     source          1..2127
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p21.1"
     gene            1..2127
                     /gene="PHF7"
                     /gene_synonym="HSPC045; HSPC226; NYD-SP6"
                     /note="PHD finger protein 7"
                     /db_xref="GeneID:51533"
                     /db_xref="HGNC:HGNC:18458"
                     /db_xref="MIM:620057"
     exon            1..588
                     /gene="PHF7"
                     /gene_synonym="HSPC045; HSPC226; NYD-SP6"
                     /inference="alignment:Splign:2.1.0"
     exon            589..698
                     /gene="PHF7"
                     /gene_synonym="HSPC045; HSPC226; NYD-SP6"
                     /inference="alignment:Splign:2.1.0"
     CDS             658..1803
                     /gene="PHF7"
                     /gene_synonym="HSPC045; HSPC226; NYD-SP6"
                     /note="isoform 1 is encoded by transcript variant 1;
                     testis development protein NYD-SP6; testicular secretory
                     protein Li 34"
                     /codon_start=1
                     /product="PHD finger protein 7 isoform 1"
                     /protein_id="NP_057567.3"
                     /db_xref="CCDS:CCDS2854.1"
                     /db_xref="GeneID:51533"
                     /db_xref="HGNC:HGNC:18458"
                     /db_xref="MIM:620057"
                     /translation="MKTVKEKKECQRLRKSAKTRRVTQRKPSSGPVCWLCLREPGDPE
                     KLGEFLQKDNISVHYFCLILSSKLPQRGQSNRGFHGFLPEDIKKEAARASRKICFVCK
                     KKGAAINCQKDQCLRNFHLPCGQERGCLSQFFGEYKSFCDKHRPTQNIQHGHVGEESC
                     ILCCEDLSQQSVENIQSPCCSQAIYHRKCIQKYAHTSAKHFFKCPQCNNRKEFPQEML
                     RMGIHIPDRDAAWELEPGAFSDLYQRYQHCDAPICLYEQGRDSFEDEGRWCLILCATC
                     GSHGTHRDCSSLRSNSKKWECEECSPAAATDYIPENSGDIPCCSSTFHPEEHFCRDNT
                     LEENPGLSWTDWPEPSLLEKPESSRGRRSYSWRSKGVRITNSCKKSK"
     exon            699..751
                     /gene="PHF7"
                     /gene_synonym="HSPC045; HSPC226; NYD-SP6"
                     /inference="alignment:Splign:2.1.0"
     exon            752..843
                     /gene="PHF7"
                     /gene_synonym="HSPC045; HSPC226; NYD-SP6"
                     /inference="alignment:Splign:2.1.0"
     exon            844..945
                     /gene="PHF7"
                     /gene_synonym="HSPC045; HSPC226; NYD-SP6"
                     /inference="alignment:Splign:2.1.0"
     exon            946..1070
                     /gene="PHF7"
                     /gene_synonym="HSPC045; HSPC226; NYD-SP6"
                     /inference="alignment:Splign:2.1.0"
     exon            1071..1230
                     /gene="PHF7"
                     /gene_synonym="HSPC045; HSPC226; NYD-SP6"
                     /inference="alignment:Splign:2.1.0"
     exon            1231..1337
                     /gene="PHF7"
                     /gene_synonym="HSPC045; HSPC226; NYD-SP6"
                     /inference="alignment:Splign:2.1.0"
     exon            1338..1454
                     /gene="PHF7"
                     /gene_synonym="HSPC045; HSPC226; NYD-SP6"
                     /inference="alignment:Splign:2.1.0"
     exon            1455..1576
                     /gene="PHF7"
                     /gene_synonym="HSPC045; HSPC226; NYD-SP6"
                     /inference="alignment:Splign:2.1.0"
     exon            1577..2127
                     /gene="PHF7"
                     /gene_synonym="HSPC045; HSPC226; NYD-SP6"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2109..2114
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PHF7"
                     /gene_synonym="HSPC045; HSPC226; NYD-SP6"
                     /note="hexamer: AATAAA"
     polyA_site      2127
                     /gene="PHF7"
                     /gene_synonym="HSPC045; HSPC226; NYD-SP6"
                     /note="major polyA site"
ORIGIN      
        1 agtcttcgcc ggcgcagtca ccgcgcaggg cggccgcccg gaggtagcta ccacggcctg
       61 tgtcaacgac taaagctcca gtacagcggc gccctcagac agctgggagg gtggctctgg
      121 ccgggagcgg cggccggtga gctaccgcga ggaggagcgg cggaggcgac ctcggcccgg
      181 ccctgcactg gccgcccggc aggcgcgaca tgagcctggt ctggcatccg cgggatgctc
      241 cttaagcccc ttctccggct gttaacctcc ggggaacggt tgtgaccaca ccgacacgta
      301 ttttacagat aaatcattct tgcggcggcg ggtcgaacac gtttatttat tttttatttt
      361 ctcaacaagc ttttacccag cacctgtcca gtgaaacaac ttgataatcg tttcgagggg
      421 cgtccgccgg gttaggaagc cactgcctgg cagcttgtgg aagcctcatt tgcaaagcca
      481 cccctcagat gttttgaaga tcgtgacgtc ttgtaactag cagtgtgtgc acagaatcct
      541 actcaaggaa cgtcttggcc cagcgatgca aagaactgaa gtttcaagct ggaagagcct
      601 gtattgtcct cacaatagta tagaagaatt caagagagga gagagagaca gcaccgaatg
      661 aagactgtaa aagaaaagaa ggaatgccag agattgagaa aatctgccaa gactaggagg
      721 gtaacccaga ggaaaccgtc ttcagggcct gtttgctggc tatgccttcg agaacctggg
      781 gatcccgaaa aattagggga atttcttcag aaagacaata tcagcgtgca ttatttctgt
      841 cttatcttat ctagtaagct gcctcagagg ggccagtcca acagaggctt ccatggattt
      901 ctgcctgaag acatcaaaaa ggaggcagcc cgggcttcta ggaagatctg ctttgtgtgc
      961 aagaaaaagg gagctgctat caactgccag aaggatcagt gcctcagaaa cttccatctg
     1021 ccttgtggcc aagaaagggg ttgcctttca caattttttg gagagtacaa atcattttgt
     1081 gacaaacatc gcccaacaca gaacatccaa catgggcatg tgggggagga aagctgcatc
     1141 ttatgttgtg aagacttatc ccaacagagt gttgagaaca tccagagccc gtgttgtagt
     1201 caagccatct accaccgcaa gtgcatacag aaatatgccc acacatcagc aaagcatttc
     1261 ttcaaatgtc cacagtgtaa caatcgaaaa gagtttcctc aagaaatgct gagaatggga
     1321 attcatattc cagacagaga tgctgcctgg gaactcgagc caggggcttt ctcagactta
     1381 tatcagcgct atcagcactg tgatgccccc atctgtctgt atgaacaagg cagagacagc
     1441 tttgaggatg aagggaggtg gtgcctcatt ctgtgtgcta catgcggatc ccacggaacc
     1501 cacagggact gctcctctct tagatctaac agtaagaaat gggagtgtga ggagtgttca
     1561 cctgctgcag ccacagacta catacctgaa aactcagggg acatcccttg ctgcagcagc
     1621 accttccacc ctgaggaaca tttctgcaga gacaacacct tggaagagaa tccgggcctt
     1681 tcttggactg attggccaga accttcctta ttagaaaagc cagagtcctc tcgtggcagg
     1741 aggagctact cctggaggtc caagggtgtc agaatcacta acagctgcaa aaaatccaag
     1801 taacaccttc tgagtagctg ctgtcccaca caatagggta tgaagctgcg ctcctccatc
     1861 gggtttgggg agggagcact ctgggactgt gagacaagga agcagggcca gcagtgagac
     1921 tatgagccaa gcaaagagaa gtctcagtgg agcatgagga gggagcagtc cagatgccaa
     1981 caaggaaatg cgtttatggc tacaagagtg cctctgcttt ctcctcctct cctcccacca
     2041 aggattcttc caccttaatc ttgttttcat atgcctcttc ttacttcacc catgtttgtt
     2101 gttatgcaaa taaaggtttt ctctcca
//
