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    HSFY1 heat shock transcription factor Y-linked 1 [ Homo sapiens (human) ]

    Gene ID: 86614, updated on 2-Nov-2024

    Summary

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    Official Symbol
    HSFY1provided by HGNC
    Official Full Name
    heat shock transcription factor Y-linked 1provided by HGNC
    Primary source
    HGNC:HGNC:18568
    See related
    Ensembl:ENSG00000172468 MIM:400029; AllianceGenome:HGNC:18568
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HSFY; HSF2L
    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]
    Expression
    Restricted expression toward testis (RPKM 15.9) See more
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    Genomic context

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    See HSFY1 in Genome Data Viewer
    Location:
    Yq11.222
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) Y NC_000024.10 (18529643..18588963)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) Y NC_060948.1 (19436129..19495418)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) Y NC_000024.9 (20708577..20750849)

    Chromosome Y - NC_000024.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124905304 Neighboring gene USP9Y pseudogene 5 Neighboring gene XK related, Y-linked pseudogene 1 Neighboring gene elongin C pseudogene 7 Neighboring gene PTPN13 like Y-linked pseudogene 5 Neighboring gene USP9Y pseudogene 1 Neighboring gene AZFb P4.1 recombination region Neighboring gene glycoprotein M6B pseudogene 1 Neighboring gene testis expressed transcript, Y-linked 9B Neighboring gene OFD1 pseudogene 5 Y-linked Neighboring gene trafficking protein particle complex 2 pseudogene 7 Neighboring gene RAB9A, member RAS oncogene family pseudogene 4 Neighboring gene OFD1 pseudogene 6 Y-linked Neighboring gene testis expressed transcript, Y-linked 9A Neighboring gene heat shock transcription factor Y-linked 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Characterization of HSFY, a novel AZFb gene on the Y chromosome with a possible role in human spermatogenesis. Tessari A, et al. Mol Hum Reprod, 2004 Apr. PMID 14985478
    2. Deletion or underexpression of the Y-chromosome genes CDY2 and HSFY is associated with maturation arrest in American men with nonobstructive azoospermia. Stahl PJ, et al. Asian J Androl, 2012 Sep. PMID 22820855, Free PMC Article
    3. HSFY genes and the P4 palindrome in the AZFb interval of the human Y chromosome are not required for spermatocyte maturation. Kichine E, et al. Hum Reprod, 2012 Feb. PMID 22158087
    4. Molecular characterization of heat shock-like factor encoded on the human Y chromosome, and implications for male infertility. Shinka T, et al. Biol Reprod, 2004 Jul. PMID 15044259
    5. Y Chromosome Infertility. Adam MP, et al. , 1993. PMID 20301513

    See all (26) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 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
      Title: Deletion or underexpression of the Y-chromosome genes CDY2 and HSFY is associated with maturation arrest in American men with nonobstructive azoospermia.
    2. 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.
      Title: HSFY genes and the P4 palindrome in the AZFb interval of the human Y chromosome are not required for spermatocyte maturation.
    3. Could have an important role in human spermatogenesis.
      Title: Characterization of HSFY, a novel AZFb gene on the Y chromosome with a possible role in human spermatogenesis.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Spermatogenic failure, Y-linked, 2
    MedGen: C1839071 OMIM: 415000 GeneReviews: Y Chromosome Infertility
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • AC022486.1

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription factor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
    Inferred from Sequence Alignment
    more info
    		  
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables sequence-specific double-stranded DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in chromatin ISA
    Inferred from Sequence Alignment
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    heat shock transcription factor, Y-linked
    Names
    heat shock transcription factor 2-like protein

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_012030.2 RefSeqGene

      Range
      22079..23951
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001425398.1 → NP_001412327.1  heat shock transcription factor, Y-linked isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC022486

    2. NM_033108.3 → NP_149099.2  heat shock transcription factor, Y-linked isoform 1

      See identical proteins and their annotated locations for NP_149099.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1) of this protein. Isoform 1 has an HSF-type DNA-binding motif.
      Source sequence(s)
      BC036567, BX281920
      Consensus CDS
      CCDS35475.1
      UniProtKB/Swiss-Prot
      Q17RC0, Q7Z4L8, Q96LI6, Q9BZA2, Q9BZA3
      Related
      ENSP00000303599.2, ENST00000307393.3
      Conserved Domains (1) summary
      pfam00447
      Location:80 → 194
      HSF_DNA-bind; HSF-type DNA-binding

    3. NM_152584.1 → NP_689797.1  heat shock transcription factor, Y-linked isoform 2

      See identical proteins and their annotated locations for NP_689797.1

      Status: REVIEWED

      Description
      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.
      Source sequence(s)
      AF332226
      Consensus CDS
      CCDS14790.1
      UniProtKB/Swiss-Prot
      Q96LI6
      Related
      ENSP00000311166.4, ENST00000309834.8
      Conserved Domains (1) summary
      pfam00447
      Location:86 → 154
      HSF_DNA-bind; HSF-type DNA-binding

    RNA

    1. NR_003510.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) has an alternate 3' splice pattern, compared to variant 1. The transcript is sufficiently abundant to represent as a RefSeq record; however, the predicted protein is not represented because the transcript is a candidate for nonsense-mediated decay (NMD).
      Source sequence(s)
      AJ566404
      Related
      ENST00000338876.8

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000024.10 Reference GRCh38.p14 Primary Assembly

      Range
      18529643..18588963
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017030085.3 → XP_016885574.1  heat shock transcription factor, Y-linked isoform X1

    RNA

    1. XR_007068453.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060948.1 Alternate T2T-CHM13v2.0

      Range
      19436129..19495418
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054328389.1 → XP_054184364.1  heat shock transcription factor, Y-linked isoform X1

    RNA

    1. XR_008485530.1 RNA Sequence

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001001871.1: Suppressed sequence

      Description
      NM_001001871.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96LI6.1 GenPept UniProtKB/Swiss-Prot:Q96LI6

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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