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

H1FNT Gene

protein-coding   GIFtS: 37
GCID: GC12P048722

H1 histone family, member N, testis-specific

  Search for H1FNT
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 Human Malady Compendium 
Biological research products
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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
H1 Histone Family, Member N, Testis-Specific1 2
HANP11 2 3
H1T21 2
Haploid Germ Cell-Specific Nuclear Protein 12 3
Histone H1t22 3
Testis-Specific H1 Histone2

External Ids:    HGNC: 248931   Entrez Gene: 3415672   Ensembl: ENSG000001871667   UniProtKB: Q75WM63   

Export aliases for H1FNT gene to outside databases

Previous GC identifers: GC12P047012 GC12P045755


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

UniProtKB/Swiss-Prot: H1FNT_HUMAN, Q75WM6
Function: Essential for normal spermatogenesis and male fertility. Required for proper cell restructuring and DNA
condensation during the elongation phase of spermiogenesis. Involved in the histone-protamine transition of sperm
chromatin and the subsequent production of functional sperm. Binds both double-stranded and single-stranded DNA, ATP
and protamine-1 (By similarity)




(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_000012.11  NC_018923.1  NT_029419.12  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the H1FNT gene promoter:
         GR   GR-beta   NF-kappaB   C/EBPalpha   E47   HEN1   NF-kappaB2   GR-alpha   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidH1FNT promoter sequence
   Search SABiosciences Chromatin IP Primers for H1FNT

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat H1FNT


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

Entrez Gene cytogenetic band: 12q13.11   Ensembl cytogenetic band:  12q13.11   HGNC cytogenetic band: 12q13.11

H1FNT Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
H1FNT gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P048722:  view genomic region     (about GC identifiers)

Start:
48,722,763 bp from pter      End:
48,724,062 bp from pter
Size:
1,300 bases      Orientation:
plus 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: H1FNT_HUMAN, Q75WM6 (See protein sequence)
Recommended Name: Testis-specific H1 histone  
Size: 255 amino acids; 28116 Da
Subcellular location: Nucleus (By similarity). Chromosome (By similarity). Note=In round and elongating spermatids,
specifically localizes to a chromatin domain at the apical pole (By similarity)
Caution: It is uncertain whether Met-1 or Met-22 is the initiator
Sequence caution: Sequence=BAD13382.2; Type=Erroneous initiation;
Secondary accessions: Q147U8 Q5GKZ5 Q7Z694

Explore the universe of human proteins at neXtProt for H1FNT: NX_Q75WM6

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q75WM6

  • H1FNT Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_861453.1  
    ENSEMBL proteins: 
     ENSP00000334805  

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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:0000790nuclear chromatin ISS15710904
    GO:0005634nucleus ----


    H1FNT 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

    ProtoNet protein and cluster: Q75WM6

    UniProtKB/Swiss-Prot: H1FNT_HUMAN, Q75WM6
    Similarity: Belongs to the histone H1/H5 family


    (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: H1FNT_HUMAN, Q75WM6
    Function: Essential for normal spermatogenesis and male fertility. Required for proper cell restructuring and DNA
    condensation during the elongation phase of spermiogenesis. Involved in the histone-protamine transition of sperm
    chromatin and the subsequent production of functional sperm. Binds both double-stranded and single-stranded DNA, ATP
    and protamine-1 (By similarity)

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0005524ATP binding IEA--


    H1FNT for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-outs for H1FNT: H1fnttm1Idvd H1fnttm1Yoni
         1 MGI mutant phenotype (inferred from 2 alleles(MGI details for H1fnt):
     reproductive system 

    H1FNT for phenotypes           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



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for H1FNT

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007275multicellular organismal development IEA--
    GO:0007290spermatid nucleus elongation ISS15710904
    GO:0030261chromosome condensation IEA--
    GO:0035092sperm chromatin condensation ISS15710904


    H1FNT 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
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for H1FNT
    Search CenterWatch for drugs/clinical trials and news about H1FNT 

    (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 H1FNT gene: 
    NM_181788.1  

    Unigene Cluster for H1FNT:

    H1 histone family, member N, testis-specific
    Hs.155833  [show with all ESTs]
    Unigene Representative Sequence: AY302593
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000335017(uc001rrm.3)

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    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
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    OriGene siRNA: H1FNT
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat H1FNT
    Clone
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    Additional cDNA sequence: 

    AB121028.2 AY302593.1 BC118635.1 BC119787.1 

    1 DOTS entry:

    DT.40227313 

    17 AceView cDNA sequences:

    AI808336 AI671196 AI990167 AI624717 AI650408 BF431650 NM_181788 BE502688 
    BE466599 AY302593 AW665295 BI825819 AB121028 BX335317 AI142283 AW013835 
    AA903784 

    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

    H1FNT expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GCTGAGGCGC

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

    About this image
    See H1FNT Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for H1FNT

    SOURCE GeneReport for Unigene cluster: Hs.155833

    UniProtKB/Swiss-Prot: H1FNT_HUMAN, Q75WM6
    Tissue specificity: Testis-specific

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for H1FNT

    (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 H1FNT gene from 1/6 species (see all 6)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia H1fnt1 , 5 H1 histone family, member N, testis-specific1, 5 58.56(n)1
    50.45(a)1
      15 (54.26 cM)5
    700691  NM_027304.21  NP_081580.21 
     982559825 


    ENSEMBL Gene Tree for H1FNT (if available)
    TreeFam Gene Tree for H1FNT (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

    10/70 NCBI SNPs in H1FNT are shown (see all 70    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs774195731,2
    F,--48720810(+) TCTAGC/TCCTAT 1 -- us2k11Minor allele frequency- T:0.04NA 120
    rs751340251,2
    F,--48720827(+) ACCTAT/CGAATT 1 -- us2k11Minor allele frequency- C:0.03NA 120
    rs777127631,2
    F,--48720884(+) AAGAAG/ACACTG 1 -- us2k11Minor allele frequency- A:0.13NA 120
    rs1396629591,2
    --48720989(+) TGGCCA/GACATG 1 -- us2k10--------
    rs1138846351,2
    C,--48721144(+) GAAACC/TCCATC 1 -- us2k12Minor allele frequency- T:0.04WA 120
    rs777044761,2
    C,--48721177(+) GCTGGG/ACATGG 1 -- us2k12Minor allele frequency- A:0.08WA 120
    rs1831540231,2
    --48721186(+) GGTAGA/CAGGAA 1 -- us2k10--------
    rs79681161,2
    C,--48721250(+) gaggcA/Ggaggt 1 -- us2k10--------
    rs24090031,2
    C,F,A,H,--48721276(+) ttgcaC/Tcactg 1 -- us2k14Minor allele frequency- T:0.50NA 8
    rs1120580431,2
    C,--48721282(+) CACTGC/TACTCC 1 -- us2k11Minor allele frequency- T:0.50NA 2

    HapMap Linkage Disequilibrium report for H1FNT (48722763 - 48724062 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 4 variations for H1FNT
         4 CNVs: 30600 2983 8729 3888

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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
      --

    (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 H1FNT gene integrated from 9 sources:
    (articles sorted by number of sources associating them with H1FNT)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Polar nuclear localization of H1T2, a histone H1 variant, required for spermatid elongation and DNA condensation during spermiogenesis. (PubMed id 15710904)1, 2, 3 Martianov I....Davidson I. (2005)
    2. Expression profiles and single-nucleotide polymorphism analysis of human HANP1/H1T2 encoding a histone H1-like protein. (PubMed id 16533358)1, 2, 9 Tanaka H.... Nishimune Y. (2006)
    3. The finished DNA sequence of human chromosome 12. (PubMed id 16541075)2 Scherer S.E.... Gibbs R.A. (2006)
    4. HANP1/H1T2, a novel histone H1-like protein involved in nuclear formation and sperm fertility. (PubMed id 16055721)1 Tanaka H....Nishimune Y. (2005)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
    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. (2002)
    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. mRNA levels of the differentiation-associated linker histone variant H1 zero in mitotically active and postmitotic senescent human diploid fibroblast cell populations. (PubMed id 11672986)9 Tsapali D.S....Sourlingas T.G. (2001)

    (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: 341567 HGNC: 24893 AceView: LOC341567 Ensembl:ENSG00000187166 euGenes: HUgn341567
    ECgene: H1FNT H-InvDB: H1FNT

    (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 H1FNT 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 H1FNT gene:
    Search GeneIP for patents involving H1FNT

    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 , 27 Apr 2013

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    VWF
    (GIFTS: 73)
    von Willebrand factor
    GIFtS Group
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