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HTN1 Gene

protein-coding   GIFtS: 50
GCID: GC04P070916

Histatin 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)
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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Histatin 11 2
Histidine-Rich Protein 12 3
Post-PB Protein2 3
HIS12 3
PPB2 3
histatin-12

External Ids:    HGNC: 52831   Entrez Gene: 33462   Ensembl: ENSG000001265507   OMIM: 1427015   UniProtKB: P155153   
ORGUL members:         

Export aliases for HTN1 gene to outside databases

Previous GC identifers: GC04P070826 GC04P070964 GC04P071166 GC04P071231 GC04P071096 GC04P066713


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for HTN1 Gene:
HTN1 (histatin 1) is a protein-coding gene. Diseases associated with HTN1 include candida glabrata, and atypical autism. An important paralog of this gene is HTN3.

UniProtKB/Swiss-Prot: HIS1_HUMAN, P15515
Function: Histatins are salivary proteins that are considered to be major precursors of the protective
proteinaceous structure on tooth surfaces (enamel pellicle). In addition, histatins exhibit antibacterial and
antifungal activities

Gene Wiki entry for HTN1 Gene


(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_000004.12  NC_018915.2  NT_016354.20  
Regulatory elements:
   Regulatory transcription factor binding sites in the HTN1 gene promoter:
         Nkx3-1   Nkx3-1 v2   Nkx3-1 v4   Nkx3-1 v3   Nkx3-1 v1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHTN1 promoter sequence
   Search Chromatin IP Primers for HTN1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat HTN1


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

Entrez Gene cytogenetic band: 4q13   Ensembl cytogenetic band:  4q13.3   HGNC cytogenetic band: 4q13

HTN1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HTN1 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P070916:  view genomic region     (about GC identifiers)

Start:
70,916,119 bp from pter      End:
70,924,562 bp from pter
Size:
8,444 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, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: HIS1_HUMAN, P15515 (See protein sequence)
Recommended Name: Histatin-1 precursor  
Size: 57 amino acids; 6963 Da
Mass spectrometry: Mass=4848.2; Mass_error=0.5; Method=Electrospray; Range=20-50; Note=Not post-translationally
modified; Source=PubMed:17503797;
Mass spectrometry: Mass=4928.2; Mass_error=0.5; Method=Electrospray; Range=20-50; Note=with 1 phosphate group;
Source=PubMed:17503797;
Mass spectrometry: Mass=5008.6; Mass_error=0.5; Method=Electrospray; Range=20-50; Note=with 1 phosphate group and
1 sulfate group; Source=PubMed:17503797;
Mass spectrometry: Mass=5088.4; Mass_error=0.5; Method=Electrospray; Range=20-50; Note=with 1 phosphate group and
2 sulfate groups; Source=PubMed:17503797;
Mass spectrometry: Mass=5168.2; Mass_error=0.5; Method=Electrospray; Range=20-50; Note=with 1 phosphate group and
3 sulfate groups; Source=PubMed:17503797;
Mass spectrometry: Mass=5247.7; Mass_error=0.5; Method=Electrospray; Range=20-50; Note=with 1 phosphate group and
4 sulfate groups; Source=PubMed:17503797;
Miscellaneous: The recommended nomenclature of salivary peptides follows published guidelines (PubMed:20973643).
In agreement with the authors, it has been decided to indicate the boundaries of the peptides according to the
positions within the precursor, and not in the mature protein, as has formerly been proposed

Explore the universe of human proteins at neXtProt for HTN1: NX_P15515

Explore proteomics data for HTN1 at MOPED

Post-translational modifications: 

  • Depending on the authors, the form called histatin-2 is alternatively a proteolytic product, or the
    non-phosphorylated form of histatin-11
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See HTN1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_002150.1  
    ENSEMBL proteins: 
     ENSP00000246896   ENSP00000424501  

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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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    ProtoNet protein and cluster: P15515

    UniProtKB/Swiss-Prot: HIS1_HUMAN, P15515
    Similarity: Belongs to the histatin/statherin family


    (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: HIS1_HUMAN, P15515
    Function: Histatins are salivary proteins that are considered to be major precursors of the protective
    proteinaceous structure on tooth surfaces (enamel pellicle). In addition, histatins exhibit antibacterial and
    antifungal activities

         Genatlas biochemistry entry for HTN1:
    histatin 1 (see SHRP@)

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI16203048
         
    HTN1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for HTN1:
     Increased gamma-H2AX phosphory 

    Animal Models:
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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
    HIS1_HUMAN, P15515: Secreted
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region NAS3286634

    HTN1 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 HTN1 About    
    See pathways by source

    SuperPathContained pathways About
    1Salivary secretion
    Salivary secretion0.34

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Kegg Pathway  (Kegg details for HTN1):
        Salivary secretion


    HTN1 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for HTN1
    Interactions:

        Search GeneGlobe Interaction Network for HTN1

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    3 Interacting proteins for HTN1 (P155151, 3 ENSP000002468964) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MUC7Q8TAX71, 3, ENSP000003020214EBI-738638,EBI-738582 I2D: score=1 STRING: ENSP00000302021
    CCNT1O605633, ENSP000002619004I2D: score=1 STRING: ENSP00000261900
    MUC5BQ9HC843, ENSP000004157934I2D: score=1 STRING: ENSP00000415793
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0031214biomineral tissue development IEA--
    GO:0031640killing of cells of other organism IEA--
    GO:0042742defense response to bacterium NAS3286634
    GO:0050832defense response to fungus IEA--

    HTN1 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 HTN1 (HIS1)

    4 Novoseek inferred chemical compound relationships for HTN1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    phosphoserine 58.3 4 12711380 (1), 8600179 (1)
    hydroxyapatite 49.4 11 12060866 (3), 8600179 (3), 16055080 (1), 16946609 (1) (see all 5)
    serine 8.06 2 8600179 (1)
    zinc 0 2 14693192 (1), 11570863 (1)



    HTN1 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,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for HTN1 gene: 
    NM_002159.2  

    Unigene Cluster for HTN1:

    Histatin 1
    Hs.250959  [show with all ESTs]
    Unigene Representative Sequence: CR627329
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000246896(uc003hex.3) ENST00000503645 ENST00000511674 ENST00000506754

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      QuantiFast Probe-based Assays in human, mouse, rat HTN1

    Additional mRNA sequence: 

    BC017835.1 CR627329.1 M26664.1 

    20 DOTS entries:

    DT.100755270  DT.100680399  DT.87046226  DT.100829045  DT.100829033  DT.100829035  DT.100829022  DT.100829012 
    DT.121249385  DT.121249372  DT.100829006  DT.92420462  DT.121249367  DT.444397  DT.100725982  DT.100829014 
    DT.100829028  DT.100829038  DT.121249549  DT.121249603 

    Selected AceView cDNA sequences (see all 1728):

    BP335009 BX484850 AA376696 BP334413 BP334591 AA376688 AA376717 AA376710 
    BP334178 AA376712 BX486743 BP334623 AA376645 BP335111 BP333958 BP334251 
    AA382524 BP334433 BX485098 BP334391 BP334166 BP335034 BC017835 BP334749 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for HTN1    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5
    SP1:              -                 -         
    SP2:                                          


    ECgene alternative splicing isoforms for HTN1

    (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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    HTN1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    HTN1 Expression
    About this image

    HTN1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    HTN1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.250959

    UniProtKB/Swiss-Prot: HIS1_HUMAN, P15515
    Tissue specificity: Submandibular and parotid glands

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

    Orthologs for HTN1 gene from 1 species (see representative species )    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chimpanzee
    (Pan troglodytes)
    Mammalia HTN11 histatin 1 98.25(n)
    96.49(a)
      741226  XM_001143678.3  XP_001143678.1 


    ENSEMBL Gene Tree for HTN1 (if available)
    TreeFam Gene Tree for HTN1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for HTN1 gene
    HTN32  
    1 SIMAP similar gene for HTN1 using alignment to 1 protein entry:     HIS1_HUMAN:
    HTN3

    HTN1 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), 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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    Selected SNPs for HTN1 (see all 282)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1392203091,2
    Cuntested170918832(+) CTCATA/GATTTC 2 I M mis10--------
    rs738238331,2
    C,F--70914165(+) TTTAAA/GTCAGA 1 -- us2k13Minor allele frequency- G:0.21WA CSA 121
    rs1852032801,2
    --70914172(+) CAGACA/GTAGTT 1 -- us2k10--------
    rs738238341,2
    C,F--70914217(+) TCATGA/CCTGTA 1 -- us2k13Minor allele frequency- C:0.22WA CSA 121
    rs1457778801,2
    --70914247(+) CTTAGA/GCACGA 1 -- us2k10--------
    rs789455061,2
    C,F--70914250(+) AGGCAC/TGAGGA 1 -- us2k12Minor allele frequency- T:0.15WA 120
    rs790703631,2
    C--70914283(+) GAACAA/GTGTTG 1 -- us2k13Minor allele frequency- G:0.21WA CSA 121
    rs1152481551,2
    F--70914304(+) GAAACC/TCATCT 1 -- us2k11Minor allele frequency- T:0.02WA 118
    rs1386072991,2
    --70914345(+) GGTGCA/CGTCGT 1 -- us2k10--------
    rs738238351,2
    C,F--70914386(+) ATGAGG/AGGAGG 1 -- us2k13Minor allele frequency- A:0.21WA CSA 121

    HapMap Linkage Disequilibrium report for HTN1 (70916119 - 70924562 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for HTN1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv879464CNV Loss21882294
    dgv5630n71CNV Loss21882294
    dgv5629n71CNV Loss21882294
    nsv879463CNV Loss21882294
    nsv879460CNV Gain21882294

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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: 142701    OMIM disorders: --

    6 diseases for HTN1:    
    About MalaCards
    candida glabrata    atypical autism    dental caries    autism spectrum disorder
    hepatitis b    hepatitis

    1 disease from the University of Copenhagen DISEASES database for HTN1:
    Atypical autism

    HTN1 for disorders           About GeneDecksing

    Human Genome Epidemiology (HuGE) Navigator: HTN1 (1 document)

    Export disorders for HTN1 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 HTN1 gene, integrated from 10 sources (see all 57):
    (articles sorted by number of sources associating them with HTN1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Nucleotide sequence analysis of the human salivary protein genes HIS1 and HIS2, and evolution of the STATH/HIS gene family. (PubMed id 8336540)1, 2, 9 Chen Z.W. (Mol. Biol. Evol. 1993)
    2. Tyrosine polysulfation of human salivary histatin 1. A post- translational modification specific of the submandibular gland. (PubMed id 17503797)1, 2, 9 Cabras T.... Messana I. (J. Proteome Res. 2007)
    3. Rapid purification and characterization of histatins (histidine-rich polypeptides) from human whole saliva. (PubMed id 2372245)1, 2, 9 Sugiyama K.... Ogata K. (Arch. Oral Biol. 1990)
    4. 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)
    5. Localization of the genes for histatins to human chromosome 4q13 and tissue distribution of the mRNAs. (PubMed id 2773933)1, 2 Vanderspek J.C....Troxler R.F. (Am. J. Hum. Genet. 1989)
    6. Histatins, a family of salivary histidine-rich proteins, are encoded by at least two loci (HIS1 and HIS2). (PubMed id 2719677)1, 2 Sabatini L.M. and Azen E.A. (Biochem. Biophys. Res. Commun. 1989)
    7. Histatins, a novel family of histidine-rich proteins in human parotid secretion. Isolation, characterization, primary structure, and fungistatic effects on Candida albicans. (PubMed id 3286634)1, 2 Oppenheim F.G.... Troxler R.F. (J. Biol. Chem. 1988)
    8. The primary structure and functional characterization of the neutral histidine-rich polypeptide from human parotid secretion. (PubMed id 3944083)1, 2 Oppenheim F.G....Troxler R.F. (J. Biol. Chem. 1986)
    9. Functional comparison of native and recombinant human salivary histatin 1. (PubMed id 8600179)1, 9 Driscoll J....Oppenheim F.G. (J. Dent. Res. 1995)
    10. Physical parameters of hydroxyapatite adsorption and effect on candidacidal activity of histatins. (PubMed id 12711380)1, 9 Yin A....Oppenheim F.G. (Arch. Oral Biol. 2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 3346 HGNC: 5283 AceView: HTN3andHTN1andSTATH Ensembl:ENSG00000126550 euGenes: HUgn3346
    ECgene: HTN1 Kegg: 3346 H-InvDB: HTN1

    (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 HTN1 Pharmacogenomics, SNPs, Pathways

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