LOCUS       NM_152584               1058 bp    mRNA    linear   PRI 18-APR-2013
DEFINITION  Homo sapiens heat shock transcription factor, Y-linked 1 (HSFY1),
            transcript variant 2, mRNA.
ACCESSION   NM_152584
VERSION     NM_152584.1  GI:24211016
KEYWORDS    RefSeq.
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 1058)
  AUTHORS   Stahl,P.J., Mielnik,A.N., Barbieri,C.E., Schlegel,P.N. and
            Paduch,D.A.
  TITLE     Deletion or underexpression of the Y-chromosome genes CDY2 and HSFY
            is associated with maturation arrest in American men with
            nonobstructive azoospermia
  JOURNAL   Asian J. Androl. 14 (5), 676-682 (2012)
   PUBMED   22820855
  REMARK    GeneRIF: data indicate that CDY2 and HSFY are located within a
            segment of the Y chromosome that is important for sperm maturation,
            and are underexpressed in testicular tissue derived from men with
            MA
REFERENCE   2  (bases 1 to 1058)
  AUTHORS   Kichine,E., Roze,V., Di Cristofaro,J., Taulier,D., Navarro,A.,
            Streichemberger,E., Decarpentrie,F., Metzler-Guillemain,C.,
            Levy,N., Chiaroni,J., Paquis-Flucklinger,V., Fellmann,F. and
            Mitchell,M.J.
  TITLE     HSFY genes and the P4 palindrome in the AZFb interval of the human
            Y chromosome are not required for spermatocyte maturation
  JOURNAL   Hum. Reprod. 27 (2), 615-624 (2012)
   PUBMED   22158087
  REMARK    GeneRIF: genetic association studies: Data from 4 unrelated
            azoospermic patients in France with Y chromosome deletions exclude
            HSFY1/HSF2 genes as factors in AZFb/P4 palindrome haplogroup
            required for spermatogenesis.
REFERENCE   3  (bases 1 to 1058)
  AUTHORS   Shinka,T., Sato,Y., Chen,G., Naroda,T., Kinoshita,K., Unemi,Y.,
            Tsuji,K., Toida,K., Iwamoto,T. and Nakahori,Y.
  TITLE     Molecular characterization of heat shock-like factor encoded on the
            human Y chromosome, and implications for male infertility
  JOURNAL   Biol. Reprod. 71 (1), 297-306 (2004)
   PUBMED   15044259
REFERENCE   4  (bases 1 to 1058)
  AUTHORS   Tessari,A., Salata,E., Ferlin,A., Bartoloni,L., Slongo,M.L. and
            Foresta,C.
  TITLE     Characterization of HSFY, a novel AZFb gene on the Y chromosome
            with a possible role in human spermatogenesis
  JOURNAL   Mol. Hum. Reprod. 10 (4), 253-258 (2004)
   PUBMED   14985478
  REMARK    GeneRIF: Could have an important role in human spermatogenesis.
REFERENCE   5  (bases 1 to 1058)
  AUTHORS   Skaletsky,H., Kuroda-Kawaguchi,T., Minx,P.J., Cordum,H.S.,
            Hillier,L., Brown,L.G., Repping,S., Pyntikova,T., Ali,J., Bieri,T.,
            Chinwalla,A., Delehaunty,A., Delehaunty,K., Du,H., Fewell,G.,
            Fulton,L., Fulton,R., Graves,T., Hou,S.F., Latrielle,P.,
            Leonard,S., Mardis,E., Maupin,R., McPherson,J., Miner,T., Nash,W.,
            Nguyen,C., Ozersky,P., Pepin,K., Rock,S., Rohlfing,T., Scott,K.,
            Schultz,B., Strong,C., Tin-Wollam,A., Yang,S.P., Waterston,R.H.,
            Wilson,R.K., Rozen,S. and Page,D.C.
  TITLE     The male-specific region of the human Y chromosome is a mosaic of
            discrete sequence classes
  JOURNAL   Nature 423 (6942), 825-837 (2003)
   PUBMED   12815422
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF332226.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: This gene encodes a member of the heat shock factor (HSF)
            family of transcriptional activators for heat shock proteins. This
            gene is a candidate gene for azoospermia, since it localizes to a
            region of chromosome Y that is sometimes deleted in infertile
            males. The genome has two identical copies of this gene within a
            palindromic region; this record represents the more centromeric
            copy. Alternative splicing results in multiple transcript variants
            encoding distinct isoforms. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (2) includes a different exon in
            the 3' coding region, resulting in a frameshift and earlier
            termination codon, compared to variant 1. The resulting isoform (2)
            is shorter and has a distinct C-terminus compared to isoform 1.
            Isoform 2 lacks the HFS-type DNA-binding domain found in isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF332226.1 [ECO:0000332]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1058
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="Y"
                     /map="Yq11.222"
     gene            1..1058
                     /gene="HSFY1"
                     /gene_synonym="HSF2L; HSFY"
                     /note="heat shock transcription factor, Y-linked 1"
                     /db_xref="GeneID:86614"
                     /db_xref="HGNC:18568"
                     /db_xref="MIM:400029"
     exon            1..610
                     /gene="HSFY1"
                     /gene_synonym="HSF2L; HSFY"
                     /inference="alignment:Splign:1.39.8"
     misc_feature    74..76
                     /gene="HSFY1"
                     /gene_synonym="HSF2L; HSFY"
                     /note="upstream in-frame stop codon"
     CDS             98..709
                     /gene="HSFY1"
                     /gene_synonym="HSF2L; HSFY"
                     /note="isoform 2 is encoded by transcript variant 2; heat
                     shock transcription factor 2-like protein"
                     /codon_start=1
                     /product="heat shock transcription factor, Y-linked
                     isoform 2"
                     /protein_id="NP_689797.1"
                     /db_xref="GI:24211017"
                     /db_xref="CCDS:CCDS14790.1"
                     /db_xref="GeneID:86614"
                     /db_xref="HGNC:18568"
                     /db_xref="MIM:400029"
                     /translation="

MAHVSSETQDVSPKDELTASEASTRSPLCEHTFPGDSDLRSMIEEHAFQVLSQGSLLESPSYTVCVSEPDKDDDFLSLNFPRKLWKIVESDQFKSISWDENGTCIVINEELFKKEILETKAPYRIFQTDAIKSFVRQLNLYGFSKIQQNFQRSAFLATFLSEEKESSVLSKIRFTKMKLSRSSTYENRYLCCNLHLKDESNYS

"
     misc_feature    335..>562
                     /gene="HSFY1"
                     /gene_synonym="HSF2L; HSFY"
                     /note="HSF-type DNA-binding; Region: HSF_DNA-bind;
                     pfam00447"
                     /db_xref="CDD:201233"
     variation       450
                     /gene="HSFY1"
                     /gene_synonym="HSF2L; HSFY"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:11547031"
     exon            611..1038
                     /gene="HSFY1"
                     /gene_synonym="HSF2L; HSFY"
                     /inference="alignment:Splign:1.39.8"
     variation       887
                     /gene="HSFY1"
                     /gene_synonym="HSF2L; HSFY"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:112915209"
     polyA_site      1038
                     /gene="HSFY1"
                     /gene_synonym="HSF2L; HSFY"
ORIGIN      

taagtgtacatgcttaggccttctgaagcagcatttgaagctgcagtcctgaaaaccatgcaggccggaagagtagataaagaaatatttatttgagatggcacatgtttcttcagaaactcaagatgtttcccccaaagatgaattaactgcttcagaagcctccactaggtctccattgtgtgaacacaccttccctggggactcagacttacggtcaatgattgaagaacatgcttttcaggttttgtcacaaggatccttgttagaaagtccaagttacacagtttgtgtctctgagccagataaagatgatgattttctttctctgaactttcccaggaaactttggaaaatagtggaaagtgaccaattcaagtctatttcatgggatgagaatggaacttgcatagtgattaatgaagaactcttcaagaaagaaattttggaaacaaaggctccttacagaatatttcaaactgatgctatcaaaagttttgttcgacagctcaacctttatggatttagtaaaattcaacagaattttcaaagatctgcctttctagccacctttctgtcagaagagaaagaatcgtctgtcttaagcaagatacgcttcaccaaaatgaaactttccagatcttcaacttatgaaaacaggtatttatgttgcaacttacatttaaaagatgagtcgaattactcataatccttagaagttagcttgtccgcatctgaaaattcacttttaccttgaagttcaatctgtctctgggaaagactagattggaagaataaaattcaagaatgtgatgttttagtaatggaaaagccaagagcgtcaggtggcaaaagtccttctgttactcaagaaaatgctctgaaaaattccttttctcttttttttttgtaaagattaactccacctcaccaccacaatgaggtatttttctcagcaattgacacctgtttactcagttactccctgtaactatgttatgctgtgaagtaggcaatacagttgttaaagaagaataaaaaaaaaaaaaaaaaaaaaa

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