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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

HSFX1 Gene

protein-coding   GIFtS: 43
GCID: GC0XP148855

Heat Shock Transcription Factor Family, X Linked 1

  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)
About This Section

Aliases
Heat Shock Transcription Factor Family, X Linked 11 2
LW-12 3
Heat Shock Transcription Factor, X-Linked2

External Ids:    HGNC: 296031   Entrez Gene: 1005061642   Ensembl: ENSG000001711167   UniProtKB: Q9UBD03   

Export aliases for HSFX1 gene to outside databases

Previous GC identifers: GC0XM148481 GC0XP148665


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for HSFX1 Gene: 
HSFX1 (heat shock transcription factor family, X linked 1) is a protein-coding gene. Diseases associated with HSFX1 include oligospermia, and male infertility. GO annotations related to this gene include sequence-specific DNA binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is HSFY1.


(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NC_018934.2  NT_011681.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the HSFX1 gene promoter:
         Nkx3-1   GR   Pbx1a   SREBP-1c   GR-beta   LCR-F1   HNF-3beta   SREBP-1b   SREBP-1a   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHSFX1 promoter sequence
   Search SABiosciences Chromatin IP Primers for HSFX1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HSFX1


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

Entrez Gene cytogenetic band: Xq28   Ensembl cytogenetic band:  Xq28   HGNC cytogenetic band: Xq28

HSFX1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HSFX1 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP148855:  view genomic region     (about GC identifiers)

Start:
148,855,726 bp from pter      End:
148,858,525 bp from pter
Size:
2,800 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: HSFX1_HUMAN, Q9UBD0 (See protein sequence)
Recommended Name: Heat shock transcription factor, X-linked  
Size: 423 amino acids; 46742 Da
Subcellular location: Nucleus (Potential). Cytoplasm

Explore the universe of human proteins at neXtProt for HSFX1: NX_Q9UBD0

Explore proteomics data for HSFX1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9UBD0

  • HSFX1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    HSFX1 Protein Expression
    REFSEQ proteins: NP_057237.1  
    ENSEMBL proteins: 
     ENSP00000359444  

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    Cloud-Clone Corp. Proteins for HSFX1 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

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

    HSFX1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    2 InterPro protein domains:
     IPR011991 WHTH_DNA-bd_dom
     IPR000232 HSF_DNA-bd

    Graphical View of Domain Structure for InterPro Entry Q9UBD0

    ProtoNet protein and cluster: Q9UBD0

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

    UniProtKB/Swiss-Prot: HSFX1_HUMAN, Q9UBD0
    Similarity: Belongs to the HSF family


    HSFX1 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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003700sequence-specific DNA binding transcription factor activity IEA--
    GO:0005515protein binding IPI16713569
    GO:0043565sequence-specific DNA binding IEA--
         
    HSFX1 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for HSFX1:
     Increased gamma-H2AX phosphory  Synthetic lethal with Ras 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for HSFX1 
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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for HSFX1

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    4 Interacting proteins for HSFX1 (Q9UBD01, 2, 3 ENSP000003594444) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ATXN1P542531, 2, 3, ENSP000002447694EBI-947253,EBI-930964 MINT-2873255 MINT-2873274 MINT-2873293 I2D: score=3 STRING: ENSP00000244769
    RBFOX1Q9NWB12, 3, ENSP000003091174MINT-2873236 I2D: score=3 STRING: ENSP00000309117
    --XM_292512.32MINT-2873331 MINT-2873312
    --Q9WMX22MINT-7048100
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

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

    HSFX1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for HSFX1

    Search CenterWatch for drugs/clinical trials and news about HSFX1

    (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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for HSFX1 gene: 
    NM_016153.2  

    Unigene Clusters for HSFX1:

    Heat shock transcription factor family, X linked 1
    Hs.656936  [show with all ESTs], Hs.709146
    Unigene Representative Sequences: BC021706, AF139980
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000370416(uc022cgm.1 uc010ntb.3)
    miRNA
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    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for HSFX1
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HSFX1

    Additional mRNA sequence: 

    AF139980.1 AK310305.1 

    3 DOTS entries:

    DT.305963  DT.97823211  DT.91710577 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    HSFX1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCAGCTAGCG
    HSFX1 Expression
    About this image


    See HSFX1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for HSFX1

    SOURCE GeneReport for Unigene clusters: Hs.656936 Hs.709146

    UniProtKB/Swiss-Prot: HSFX1_HUMAN, Q9UBD0
    Tissue specificity: Testis-specific

        SABiosciences Custom PCR Arrays for HSFX1
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HSFX1

    (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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for HSFX1 gene from 2/8 species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves --
    --
    (see all 3)
    --
    30(a)
    25(a)
    (see all 3)
    possible ortholog
    possible ortholog
    (see all 3)
    1(68482806-68484889)
    8(2219760-2255373)
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    23(a)
    possible ortholog
    GL343310.1(1056810-1061875)
            Species with no ortholog for HSFX1

    ENSEMBL Gene Tree for HSFX1 (if available)
    TreeFam Gene Tree for HSFX1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for HSFX1 gene
    HSFX21 2  HSFY12  HSFY22  
    1 SIMAP similar gene for HSFX1 using alignment to 1 protein entry:     HSFX1_HUMAN:
    HSFX2

    HSFX1 for paralogs           About GeneDecksing



    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    7 SNPs in HSFX1 are shown    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1429286121,2
    --148853898(+) TGCCAC/GAACGG 1 -- us2k10--------
    rs1461015461,2
    C--148854894(+) TAGCTG/TGCCCT 1 -- us2k10--------
    rs2015615711,2
    C--148856393(+) TCGAGA/GGGACA 2 R syn10--------
    rs2010987241,2
    --148856785(+) AACTTC/TGATAA 2 S L mis10--------
    rs2004713361,2
    --148857936(+) TCACAC/TCGCAA 2 P S mis10--------
    rs3776943851,2
    ----148855369(+) ATCACC/TGGTTC 1 -- us2k10--------
    rs3714165921,2
    ----148853893(+) GCTACC/TGCCAC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for HSFX1 (148855726 - 148858525 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for HSFX1:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv508809CNV Insertion20534489
    nsv818041CNV Gain17921354
    nsv525908CNV Gain19592680
    nsv518742CNV Gain19592680

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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.)
    About This Section
    3 diseases for HSFX1:    About MalaCards
    oligospermia    male infertility    infertility


    HSFX1 for disorders           About GeneDecksing


    Export disorders for HSFX1 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)
    About This Section

    PubMed articles for HSFX1 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with HSFX1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular characterization of heat shock-like factor encoded on the human Y chromosome, and implications for male infertility. (PubMed id 15044259)1, 2, 3 Shinka T.... Nakahori Y. (2004)
    2. In vivo identification of sumoylation sites by a signature tag and cysteine-targeted affinity purification. (PubMed id 20388717)1, 2 Blomster H.A.... Sistonen L. (2010)
    3. 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. (2004)
    4. A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration. (PubMed id 16713569)1 Lim J.... Zoghbi H.Y. (2006)
    5. 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. (2002)
    6. The sequence of the human genome. (PubMed id 11181995)1 Venter J.C.... Zhu X. (2001)
    7. Hepatitis C virus core protein interacts with 14-3-3 protein and activates the kinase Raf-1. (PubMed id )2 Aoki H.... Hino O. (2000)
    8. Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing. (PubMed id 11256614)1 Simpson J.C.... Wiemann S. (2000)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    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)
    About This Section
    Entrez Gene: 100506164 HGNC: 29603 Ensembl:ENSG00000171116 euGenes: HUgn100506164 ECgene: HSFX1
    H-InvDB: HSFX1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for HSFX1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for HSFX1 gene:
    Search GeneIP for patents involving HSFX1

    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    (GIFtS: 73)
    transforming growth factor, beta 1
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