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HILS1 Gene

pseudogene   GIFtS: 41
GCID: GC17M048248

Histone Linker H1 Domain, Spermatid-Specific 1, Pseudogene

(Previous names: histone linker H1 domain, spermatid-specific 1)
  See related disease
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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This gene clusters with an RNA gene
Subcategory (RNA class): antisense

Quality score for the ORGUL clustered with this gene is 3

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   
ORGUL members:         

Export aliases for HILS1 gene to outside databases

Previous GC identifers: GC17U900024 GC17M048723 GC17M045603 GC17M043617


(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 HILS1 Gene:
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)

GeneCards Summary for HILS1 Gene:
HILS1 (histone linker H1 domain, spermatid-specific 1, pseudogene) is a pseudogene, and is affiliated with the antisense RNA class. Diseases associated with HILS1 include endotheliitis. GO annotations related to this gene include histone binding and nucleic acid binding.

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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000017.11  NC_018928.2  NT_010783.16  
Regulatory elements:
   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 Chromatin IP Primers for HILS1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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, 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.,
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UniProtKB/Swiss-Prot: HILS1_HUMAN, P60008 (See protein sequence)
Recommended Name: Spermatid-specific linker histone H1-like protein  
Size: 231 amino acids; 25632 Da

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

Explore proteomics data for HILS1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See HILS1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB


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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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    2 InterPro protein domains:
     IPR011991 WHTH_DNA-bd_dom
     IPR005818 Histone_H1/H5_H15

    Graphical View of Domain Structure for InterPro Entry P60008

    ProtoNet protein and cluster: P60008

    1 Blocks protein domain: 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


    HILS1 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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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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

         Gene Ontology (GO): 3 molecular function terms:    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


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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
    HILS1_HUMAN, P60008: Nucleus (By similarity). Chromosome (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2
    extracellular1
    mitochondrion1

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

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

    HILS1 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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    SuperPaths for HILS1 About    
    See pathways by source

    SuperPathContained pathways About
    1Transcription CREM signaling in testis
    Transcription CREM signaling in testis

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


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


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    Interactions:

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    Gene Ontology (GO): Selected biological process terms (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-templated IEA--
    GO:0006355regulation of transcription, DNA-templated NAS12920187

    HILS1 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 Tocris compounds for HILS1

    1 Novoseek inferred 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)



    HILS1 for compounds           About GeneDecksing



    (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,
    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,
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    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 mRNA 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:

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

    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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    HILS1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCCCGAAATG
    HILS1 Expression
    About this image


    HILS1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Testis (Reproductive System)
             Mature Sertoli Cells Seminiferous Tubules
    HILS1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    HILS1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.25934

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

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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 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)
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      --

    (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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    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for HILS1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv507842CNV Insertion20534489
    nsv908588CNV Loss21882294
    dgv3225n71CNV Loss21882294

    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, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 608101    OMIM disorders: --

    1 disease for HILS1:    
    About MalaCards
    endotheliitis


    HILS1 for disorders           About GeneDecksing


    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)
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    PubMed articles for HILS1 gene, integrated from 10 sources (see all 14):
    (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. (Proc. Natl. Acad. Sci. U.S.A. 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. (Arch. Androl. 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. (Int. J. Androl. 2003)
    4. Rapid evolution of the mammalian HILS1 gene and the nuclear condensation process during mammalian spermiogenesis. (PubMed id 23357345)1 Su Y....Zhang Y. (J Genet Genomics 2013)
    5. Histone gene expression profile during spermatogenesis. (PubMed id 19896661)1 Teng Y.N....Liao M.H. (Fertil. Steril. 2010)
    6. 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)
    7. 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-MartynA^w M....Jedrzejczak P. (Folia Histochem. Cytobiol. 2007)
    8. 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. (Int. J. Androl. 2006)
    9. Histone H1-like protein participates in endothelial cell-specific activation of the von Willebrand factor promoter. (PubMed id 15150074)9 Wang X....Jahroudi N. (Blood 2004)
    10. Positive Factor 1 (PF1) from oat is an HMGY- and H1 histone-like protein that binds a functionally defined AT-rich DNA element in the oat phytochrome A gene (PHYA3) promoter. (PubMed id 8152915)9 Nieto-Sotelo J....Quail P.H. (Nucleic Acids Res. 1994)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 373861 HGNC: 30616 AceView: HILS1 Ensembl:ENSG00000188662 euGenes: HUgn373861
    ECgene: HILS1 H-InvDB: HILS1

    (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 HILS1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    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, 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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