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HSFY1 Gene

protein-coding   GIFtS: 44
GCID: GC0YP020708

Heat Shock Transcription Factor, Y-Linked 1

(Previous names: heat shock transcription factor, Y-linked)
(Previous symbol: HSFY)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Heat Shock Transcription Factor, Y-Linked 11 2     HSF2L2 3
HSFY1 2 3 5     Heat Shock Transcription Factor1
Heat Shock Transcription Factor, Y-Linked1 2     Y-Linked 11
Heat Shock Transcription Factor 2-Like Protein2 3     HSF2-like3

External Ids:    HGNC: 185681   Entrez Gene: 866142   Ensembl: ENSG000001724687   OMIM: 4000295   UniProtKB: Q96LI63   

Export aliases for HSFY1 gene to outside databases

Previous GC identifers: GC0YP019604 GC0YP019096 GC0YP019167 GC0YM014604


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for HSFY1 Gene:
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)

GeneCards Summary for HSFY1 Gene:
HSFY1 (heat shock transcription factor, Y-linked 1) is a protein-coding gene. Diseases associated with HSFY1 include y chromosome infertility, and infertility. An important paralog of this gene is HSFX2.




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000024.10  NT_011875.13  
Regulatory elements:
   Regulatory transcription factor binding sites in the HSFY1 gene promoter:
         POU2F1   HOXA5   POU2F1a   Sox9   YY1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHSFY1 promoter sequence
   Search Chromatin IP Primers for HSFY1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat HSFY1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Yq11.222   Ensembl cytogenetic band:  Yq11.222   HGNC cytogenetic band: Yq11.221

HSFY1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HSFY1 gene location

GeneLoc information about chromosome Y         GeneLoc Exon Structure

GeneLoc location for GC0YP020708:  view genomic region     (about GC identifiers)

Start:
20,708,557 bp from pter      End:
20,750,849 bp from pter
Size:
42,293 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: HSFY1_HUMAN, Q96LI6 (See protein sequence)
Recommended Name: Heat shock transcription factor, Y-linked  
Size: 401 amino acids; 45107 Da
Secondary accessions: Q17RC0 Q7Z4L8 Q9BZA2 Q9BZA3
Alternative splicing: 3 isoforms:  Q96LI6-1   Q96LI6-2   Q96LI6-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for HSFY1: NX_Q96LI6

Explore proteomics data for HSFY1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See HSFY1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_149099.2  NP_689797.1  

    ENSEMBL proteins: 
     ENSP00000303599   ENSP00000311166   ENSP00000342302   ENSP00000372307  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    4 InterPro protein domains:
     IPR027725 HSF_fam
     IPR027721 HSFY
     IPR011991 WHTH_DNA-bd_dom
     IPR000232 HSF_DNA-bd

    Graphical View of Domain Structure for InterPro Entry Q96LI6

    ProtoNet protein and cluster: Q96LI6

    1 Blocks protein domain: IPB000232 Heat shock factor (HSF)-type DNA-binding domain

    UniProtKB/Swiss-Prot: HSFY1_HUMAN, Q96LI6
    Similarity: Belongs to the HSF family


    HSFY1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003700sequence-specific DNA binding transcription factor activity ----
    GO:0043565sequence-specific DNA binding ----
         
    HSFY1 for ontologies           About GeneDecksing


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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    HSFY1_HUMAN, Q96LI6: Nucleus. Cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2
    extracellular1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ----
    GO:0005737cytoplasm ----

    HSFY1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for HSFY1
    Interactions:

        Search GeneGlobe Interaction Network for HSFY1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 12)

    Selected Interacting proteins for HSFY1 (ENSP000003035994) via UniProtKB, MINT, STRING, and/or I2D (see all 12)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CCSENSP000003078704STRING: ENSP00000307870
    NUPL2ENSP000002587424STRING: ENSP00000258742
    GLOD4ENSP000003013294STRING: ENSP00000301329
    TEAD1ENSP000003545884STRING: ENSP00000354588
    TEAD2ENSP000003107014STRING: ENSP00000310701
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-templated ----
    GO:0006355regulation of transcription, DNA-templated ----

    HSFY1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for HSFY1



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for HSFY1 gene (3 alternative transcripts): 
    NM_033108.2  NM_152584.1  NM_001001871.1  

    Unigene Cluster for HSFY1:

    Heat shock transcription factor, Y-linked 1
    Hs.662281  [show with all ESTs]
    Unigene Representative Sequence: AJ566404
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000307393(uc004ftp.3) ENST00000309834(uc004ftr.3) ENST00000338876(uc004ftq.3)
    ENST00000382856
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      QuantiTect SYBR Green Assays in human, mouse, rat HSFY1
      QuantiFast Probe-based Assays in human, mouse, rat HSFY1

    Additional mRNA sequence: 

    AF332226.1 AF332227.1 AJ566404.1 BC036567.2 BC055414.1 BC117380.1 BC117382.1 NR_003510.1 

    10 DOTS entries:

    DT.120654312  DT.305740  DT.65287443  DT.120651887  DT.101977328  DT.92417462  DT.101964401  DT.120651844 
    DT.100664120  DT.120654306 

    Selected AceView cDNA sequences (see all 32):

    NM_001001878 AI469188 BG182068 AF332226 NM_001001877 BC062752 AK058182 NM_153716 
    NM_033108 NM_152584 AJ566404 BC036567 NM_001001871 BU569236 AA394010 AI221709 
    BG718772 AF332227 BC055414 BG202229 AI798750 AA435549 BG772960 AI208684 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    HSFY1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTACCAGCAG
    HSFY1 Expression
    About this image

    HSFY1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    HSFY1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.662281

    UniProtKB/Swiss-Prot: HSFY1_HUMAN, Q96LI6
    Tissue specificity: Testis-specific. Present in Sertoli cells and spermatogenic cells (at protein level)

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for HSFY1 gene from Selected species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Hsfy21 heat shock transcription factor, Y linked 2 65.87(n)
    47.75(a)
      71066  NM_027661.2  NP_081937.1 
    chicken
    (Gallus gallus)
    Aves LOC1008598621 heat shock transcription factor, Y-linked-like 56.21(n)
    42.65(a)
      100859862  XM_003641668.2  XP_003641716.2 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    40(a)
    1 → many
    GL343310.1(1056810-1061875)


    ENSEMBL Gene Tree for HSFY1 (if available)
    TreeFam Gene Tree for HSFY1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for HSFY1 gene
    HSFY21 2  HSFX22  HSFX12  

    HSFY1 for paralogs           About GeneDecksing


    Selected Pseudogenes.org Pseudogenes for HSFY1 (see all 8)
    PGOHUM00000246384 PGOHUM00000233662 PGOHUM00000233785 PGOHUM00000233790 PGOHUM00000233808


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    4 SNPs for HSFY1    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr Y posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs3771422381,2
    ----20723243(+) TATTTC/TAGTGT 2 -- int10--------
    rs3709106631,2
    ----20739967(+) TACACC/TGGAGG 2 -- int10--------

    HapMap Linkage Disequilibrium report for HSFY1 (20708557 - 20750849 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for HSFY1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv10022CNV Gain18304495
    dgv2500e1CNV Complex17122850
    esv1670141OTHER Inversion17803354

    Human Gene Mutation Database (HGMD): HSFY1
    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 400029    OMIM disorders: --

    5 diseases for HSFY1:    About MalaCards
    y chromosome infertility    infertility    sertoli cell-only syndrome    azoospermia
    male infertility

    1 disease from the University of Copenhagen DISEASES database for HSFY1:
    Male infertility

    HSFY1 for disorders           About GeneDecksing

    GeneTests: HSFY1
    GeneReviews: HSFY1

    Export disorders for HSFY1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for HSFY1 gene, integrated from 10 sources (see all 11):
    (articles sorted by number of sources associating them with HSFY1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    3. Molecular characterization of heat shock-like factor encoded on the human Y chromosome, and implications for male infertility. (PubMed id 15044259)1, 2 Shinka T.... Nakahori Y. (Biol. Reprod. 2004)
    4. The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes. (PubMed id 12815422)1, 2 Skaletsky H.... Page D.C. (Nature 2003)
    5. Protein interactions of the transcription factor Hoxa1. (PubMed id 23088713)1 Lambert B....Rezsohazy R. (BMC Dev. Biol. 2012)
    6. HSFY genes and the P4 palindrome in the AZFb interval of the human Y chromosome are not required for spermatocyte maturation. (PubMed id 22158087)1 Kichine E....Mitchell M.J. (Hum. Reprod. 2012)
    7. Deletion or underexpression of the Y-chromosome genes CDY2 and HSFY is associated with maturation arrest in American men with nonobstructive azoospermia. (PubMed id 22820855)1 Stahl P.J....Paduch D.A. (Asian J. Androl. 2012)
    8. Characterization of HSFY, a novel AZFb gene on the Y chromosome with a possible role in human spermatogenesis. (PubMed id 14985478)1 Tessari A....Foresta C. (Mol. Hum. Reprod. 2004)
    9. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    10. Y Chromosome Infertility (PubMed id 20301513)1 Pagon R.A....Stephens K. (1993)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 86614 HGNC: 18568 AceView: HSFY1 Ensembl:ENSG00000172468 euGenes: HUgn86614
    ECgene: HSFY1 H-InvDB: HSFY1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for HSFY1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=HSFY1[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for HSFY1 gene:
    Search GeneIP for patents involving HSFY1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for HSFY1  
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    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

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