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

HILS1 Gene

pseudogene   GIFtS: 39
GCID: GC17M048248

histone linker H1 domain, spermatid-specific 1, pseudogene

(Previous names: histone linker H1 domain, spermatid-specific 1 )
  Search for HILS1
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Histone Linker H1 Domain, Spermatid-Specific 1, Pseudogene1 2
Histone Linker H1 Domain, Spermatid-Specific 11

External Ids:    HGNC: 306161   Entrez Gene: 3738612   Ensembl: ENSG000001886627   OMIM: 6081015   UniProtKB: P600083   

Export aliases for HILS1 gene to outside databases

Previous GC identifers: GC17U900024 GC17M048723 GC17M045603 GC17M043617


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

Entrez Gene summary for HILS1:
This locus is the ortholog of a mouse protein-coding gene that displays characteristics of a linker histone and is
expressed in nuclei of late maturing spermatids. The human locus is expressed; however, the open reading frame has
been disrupted by a frameshift so it is unlikely to encode a functional protein. (provided by RefSeq, Oct 2008)

UniProtKB/Swiss-Prot: HILS1_HUMAN, P60008
Function: DNA-binding protein that may be implicated in chromatin remodeling and/or transcriptional regulation during
spermiogenesis, the process of spermatid maturation into spermatozoa




(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NC_018928.1  NT_010783.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the HILS1 gene promoter:
         Egr-3   c-Fos   TBP   AP-1   GATA-3   CREB   deltaCREB   ZID   c-Jun   Pax-4a   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for HILS1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HILS1


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

Entrez Gene cytogenetic band: 17q21.33   Ensembl cytogenetic band:  17q21.33   HGNC cytogenetic band: 17q21.33

HILS1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HILS1 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M048248:  view genomic region     (about GC identifiers)

Start:
48,248,789 bp from pter      End:
48,258,539 bp from pter
Size:
9,751 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: HILS1_HUMAN, P60008 (See protein sequence)
Recommended Name: Spermatid-specific linker histone H1-like protein  
Size: 231 amino acids; 25632 Da
Subcellular location: Nucleus (By similarity). Chromosome (By similarity)

Explore the universe of human proteins at neXtProt for HILS1: NX_P60008

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P60008

  • HILS1 Protein expression data from MOPED and PaxDb: --

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000786nucleosome IDA12920187
    GO:0001673male germ cell nucleus IDA12920187


    HILS1 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    HILS1 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR011991 WHTH_trsnscrt_rep_DNA-bd_dom
     IPR005818 Histone_H1/H5

    Graphical View of Domain Structure for InterPro Entry P60008

    ProtoNet protein and cluster: P60008

    1 Blocks protein family: IPB005818 Histone H1/H5

    UniProtKB/Swiss-Prot: HILS1_HUMAN, P60008
    Similarity: Belongs to the histone H1/H5 family
    Similarity: Contains 1 H15 (linker histone H1/H5 globular) domain


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: HILS1_HUMAN, P60008
    Function: DNA-binding protein that may be implicated in chromatin remodeling and/or transcriptional regulation during
    spermiogenesis, the process of spermatid maturation into spermatozoa

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003676nucleic acid binding IDA12920187
    GO:0003677DNA binding IEA--
    GO:0042393histone binding IDA12920187


    HILS1 for ontologies           About GeneDecksing



    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Transcription_CREM signaling in testis
    Transcription_CREM signaling in testis1.00
    Transcription CREM signaling in testis0.96

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for HILS1
        Transcription CREM signaling in testis


    1 GeneGo (Thomson Reuters) Pathway for HILS1
        Transcription CREM signaling in testis



    HILS1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for HILS1

    Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006334nucleosome assembly IEA--
    GO:0006338chromatin remodeling NAS12920187
    GO:0006342chromatin silencing IDA12920187
    GO:0006351transcription, DNA-dependent IEA--
    GO:0006355regulation of transcription, DNA-dependent NAS12920187


    HILS1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    HILS1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for HILS1
    1 Novoseek chemical compound relationship for HILS1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    protamine 73.1 4 17852044 (1), 18292840 (1)

    Search CenterWatch for drugs/clinical trials and news about HILS1 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for HILS1 gene: 
    NM_194072.1  

    Unigene Cluster for HILS1:

    Histone linker H1 domain, spermatid-specific 1, pseudogene
    Hs.25934  [show with all ESTs]
    Unigene Representative Sequence: BC033456
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000504307(uc002iqk.3) ENST00000545329 ENST00000340499(uc010wmj.2)


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    Additional cDNA sequence: 

    AY286318.1 BC033456.1 BC048250.1 BC109047.1 BC109048.1 BC126900.1 BC126901.1 NR_024192.1 
    NR_024193.1 

    3 DOTS entries:

    DT.442520  DT.95210955  DT.101977935 

    18 AceView cDNA sequences:

    NM_194072 AY286318 BC033456 BM931101 BC048250 Z41720 AI221228 AW340475 
    BX105030 AI221515 Z44802 R53288 AA694052 AA706990 AI652534 BE897933 
    R52634 BG574257 

    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

    HILS1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GCCCGAAATG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    HILS1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    TestisSeminiferous TubulesMature Sertoli CellsTestis
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    Genevestigator expression for HILS1

    SOURCE GeneReport for Unigene cluster: Hs.25934

    UniProtKB/Swiss-Prot: HILS1_HUMAN, P60008
    Tissue specificity: Expressed exclusively in the testis

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    In Situ
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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)
    About This Section

    This gene was present in the common ancestor of human and mouse.

    Orthologs for HILS1 gene from 1 species (see representative species )    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Hils15 histone H1-like protein in spermatids 1   --   11 (59.01 cM) 94967593 


    ENSEMBL Gene Tree for HILS1 (if available)
    TreeFam Gene Tree for HILS1 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for HILS1
         1 CNV: 88525
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    HILS1 for disorders           About MalaCards

    HILS1 for disorders           About GeneDecksing

    OMIM gene information: 608101    OMIM disorders: --


    Export disorders for HILS1 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 HILS1 gene, integrated from 9 sources (see all 13):
    (articles sorted by number of sources associating them with HILS1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. HILS1 is a spermatid-specific linker histone H1-like protein implicated in chromatin remodeling during mammalian spermiogenesis. (PubMed id 12920187)1, 2, 3, 9 Yan W.... Matzuk M.M. (2003)
    2. Quantitative assessment of transition proteins 1, 2 spermatid-specific linker histone H1-like protein transcripts in spermatozoa from normozoospermic and asthenozoospermic men. (PubMed id 17852044)1, 9 Jedrzejczak P....Jagodzinski P.P. (2007)
    3. Isolation and characterization of a novel cDNA encoding a DNA-binding protein (Hils1) specifically expressed in testicular haploid germ cells. (PubMed id 14636221)1, 9 Iguchi N....Nishimune Y. (2003)
    4. Histone gene expression profile during spermatogenesi s. (PubMed id 19896661)1 Teng Y.N....Liao M.H. (2010)
    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. Association between fertilin beta, protamines 1 and 2 and spermatid-specific linker histone H1-like protein mRNA levels, fertilization ability of human spermatozoa, and quality of preimplantation embryos. (PubMed id 18292840)9 Depa-Martynow M....Jedrzejczak P. (2007)
    7. Expression profiles and single-nucleotide polymorphism analysis of human HANP1/H1T2 encoding a histone H1-like protein. (PubMed id 16533358)9 Tanaka H.... Nishimune Y. (2006)
    8. Histone H1-like protein participates in endothelial cell-specific activation of the von Willebrand factor promoter. (PubMed id 15150074)9 Wang X....Jahroudi N. (2004)
    9. Positive Factor 1 (PF1) from oat is an HMGY- and H1 h istone-like protein that binds a functionally defined AT-rich DNA element in th e oat phytochrome A gene (PHYA3) promoter. (PubMed id 8152915)9 Nieto-Sotelo J....Quail P.H. (1994)
    10. Presence of a highly specific histone H1-like protein in the chromatin of the sperm of the bivalve mollusks. (PubMed id 1448061)9 Ausio J. (1992)

    (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: 373861 HGNC: 30616 AceView: HILS1 Ensembl:ENSG00000188662 euGenes: HUgn373861
    ECgene: HILS1 H-InvDB: HILS1

    (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 HILS1 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 HILS1 gene:
    Search GeneIP for patents involving HILS1

    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, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, 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),
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    About This Section

     
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    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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    VWF
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    von Willebrand factor
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