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2025-05-09 16:51:17, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_033108 1448 bp mRNA linear PRI 17-APR-2013
DEFINITION Homo sapiens heat shock transcription factor, Y-linked 1 (HSFY1),
transcript variant 1, mRNA.
ACCESSION NM_033108
VERSION NM_033108.2 GI:50312654
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 1448)
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 1448)
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 1448)
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 1448)
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 1448)
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 BC036567.2 and BX281920.1.
On Jul 15, 2004 this sequence version replaced gi:14916446.
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 (1) encodes the longest isoform
(1) of this protein. Isoform 1 has an HSF-type DNA-binding motif.
##Evidence-Data-START##
Transcript exon combination :: AF332227.1, BC117382.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025084, ERS025085 [ECO:0000348]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-1420 BC036567.2 1-1420
1421-1448 BX281920.1 29-56 c
FEATURES Location/Qualifiers
source 1..1448
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="Y"
/map="Yq11.222"
gene 1..1448
/gene="HSFY1"
/gene_synonym="HSF2L; HSFY"
/note="heat shock transcription factor, Y-linked 1"
/db_xref="GeneID:86614"
/db_xref="HGNC:18568"
/db_xref="HPRD:11850"
/db_xref="MIM:400029"
exon 1..613
/gene="HSFY1"
/gene_synonym="HSF2L; HSFY"
/inference="alignment:Splign:1.39.8"
STS 60..1329
/gene="HSFY1"
/gene_synonym="HSF2L; HSFY"
/db_xref="UniSTS:485995"
misc_feature 77..79
/gene="HSFY1"
/gene_synonym="HSF2L; HSFY"
/note="upstream in-frame stop codon"
CDS 101..1306
/gene="HSFY1"
/gene_synonym="HSF2L; HSFY"
/note="isoform 1 is encoded by transcript variant 1; heat
shock transcription factor 2-like protein"
/codon_start=1
/product="heat shock transcription factor, Y-linked
isoform 1"
/protein_id="NP_149099.2"
/db_xref="GI:50312655"
/db_xref="CCDS:CCDS35475.1"
/db_xref="GeneID:86614"
/db_xref="HGNC:18568"
/db_xref="HPRD:11850"
/db_xref="MIM:400029"
/translation="
MAHVSSETQDVSPKDELTASEASTRSPLCEHTFPGDSDLRSMIEEHAFQVLSQGSLLESPSYTVCVSEPDKDDDFLSLNFPRKLWKIVESDQFKSISWDENGTCIVINEELFKKEILETKAPYRIFQTDAIKSFVRQLNLYGFSKIQQNFQRSAFLATFLSEEKESSVLSKLKFYYNPNFKRGYPQLLVRVKRRIGVKNASPISTLFNEDFNKKHFRAGANMENHNSALAAEASEESLFSASKNLNMPLTRESSVRQIIANSSVPIRSGFPPPSPSTSVGPSEQIATDQHAILNQLTTIHMHSHSTYMQARGHIVNFITTTTSQYHIISPLQNGYFGLTVEPSAVPTRYPLVSVNEAPYRNMLPAGNPWLQMPTIADRSAAPHSRLALQPSPLDKYHPNYN
"
misc_feature 335..739
/gene="HSFY1"
/gene_synonym="HSF2L; HSFY"
/note="Region: HFS-type DNA-binding domain"
misc_feature 338..682
/gene="HSFY1"
/gene_synonym="HSF2L; HSFY"
/note="HSF-type DNA-binding; Region: HSF_DNA-bind;
pfam00447"
/db_xref="CDD:201233"
variation 453
/gene="HSFY1"
/gene_synonym="HSF2L; HSFY"
/replace="a"
/replace="g"
/db_xref="dbSNP:11547031"
exon 614..1427
/gene="HSFY1"
/gene_synonym="HSF2L; HSFY"
/inference="alignment:Splign:1.39.8"
STS 748..897
/gene="HSFY1"
/gene_synonym="HSF2L; HSFY"
/standard_name="sY1237"
/db_xref="UniSTS:478843"
variation complement(1010)
/gene="HSFY1"
/gene_synonym="HSF2L; HSFY"
/replace="c"
/replace="t"
/db_xref="dbSNP:56231517"
STS 1130..1264
/gene="HSFY1"
/gene_synonym="HSF2L; HSFY"
/standard_name="RH93149"
/db_xref="UniSTS:84040"
polyA_signal 1404..1409
/gene="HSFY1"
/gene_synonym="HSF2L; HSFY"
polyA_site 1427
/gene="HSFY1"
/gene_synonym="HSF2L; HSFY"
ORIGIN
agataagtgtacatgcttaggccttctgaagcagcatttgaagctgcagtcctgaaaaccatgcaggccggaagagtagataaagaaatatttatttgagatggcacatgtttcttcagaaactcaagatgtttcccccaaagatgaattaactgcttcagaagcctccactaggtctccattgtgtgaacacaccttccctggggactcagacttacggtcaatgattgaagaacatgcttttcaggttttgtcacaaggatccttgttagaaagtccaagttacacagtttgtgtctctgagccagataaagatgatgattttctttctctgaactttcccaggaaactttggaaaatagtggaaagtgaccaattcaagtctatttcatgggatgagaatggaacttgcatagtgattaatgaagaactcttcaagaaagaaattttggaaacaaaggctccttacagaatatttcaaactgatgctatcaaaagttttgttcgacagctcaacctttatggatttagtaaaattcaacagaattttcaaagatctgcctttctagccacctttctgtcagaagagaaagaatcgtctgtcttaagcaagttaaagttctattataatccaaatttcaagcgtggctatccccaacttttagtaagagtgaagagaagaattggtgttaaaaatgcttcacctatatctactttattcaacgaagatttcaacaagaagcattttagagcaggggctaacatggagaatcataattctgccttagctgctgaagctagtgaagaaagtttattttcagcctctaaaaatttaaatatgcctctaacaagggaatcttctgtcagacagataattgcaaattcatctgtccccattagaagtggtttccctcctccttcaccttcaacctcagttggaccatcagaacaaattgcaacagatcaacatgctattttaaatcagttgaccactattcatatgcactctcatagtacctacatgcaagcaaggggccacattgtgaattttattacaaccacaacttctcaataccacatcatatctcccttacaaaatggttattttgggctgacagtggaaccatctgctgttcccacacgatatcctctggtatcagtcaatgaggctccatatcgtaacatgctaccagcaggcaacccgtggttgcaaatgcctacgatcgctgatagatcagctgcccctcattccaggctagctcttcaaccatcaccactggacaaatatcaccctaattacaactgatctgccattaaaagaggaccagattatgaatgacaacagagactaacatttacattgacaaaaaaccctaaaaatttctgcaattatcttattgaacaataaaattgcatgtttacttctaaaaaaaaaaaaaaaaaaaaaa
//
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@meso_cacase at
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