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HRNR hornerin [ Homo sapiens (human) ]

Gene ID: 388697, updated on 2-Nov-2024

Summary

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Official Symbol
HRNRprovided by HGNC
Official Full Name
hornerinprovided by HGNC
Primary source
HGNC:HGNC:20846
See related
Ensembl:ENSG00000197915 MIM:616293; AllianceGenome:HGNC:20846
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
FLG3; S100A16; S100a18
Summary
Predicted to enable calcium ion binding activity and transition metal ion binding activity. Involved in cell envelope organization and establishment of skin barrier. Located in cornified envelope; keratohyalin granule; and perinuclear region of cytoplasm. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Low expression observed in reference dataset See more
Orthologs
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Genomic context

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See HRNR in Genome Data Viewer
Location:
1q21.3
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (152212076..152224193, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (152184552..152196669, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene pseudouridine 5'-phosphatase pseudogene 2 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:152140032-152141231 Neighboring gene repetin Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:152168785-152169285 Neighboring gene cervical cancer associated DHX9 suppressive transcript Neighboring gene filaggrin Neighboring gene filaggrin 2

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Identification of human hornerin and its expression in regenerating and psoriatic skin. Takaishi M, et al. J Biol Chem, 2005 Feb 11. PMID 15507446
  2. Highly complex peptide aggregates of the S100 fused-type protein hornerin are present in human skin. Wu Z, et al. J Invest Dermatol, 2009 Jun. PMID 19020553
  3. High Order Formation and Evolution of Hornerin in Primates. Romero V, et al. Genome Biol Evol, 2018 Dec 1. PMID 30256937, Free PMC Article
  4. Expression of hornerin in skin lesions of atopic dermatitis and skin diseases. Makino T, et al. Clin Exp Dermatol, 2024 Feb 14. PMID 38123340
  5. Hornerin promotes tumor progression and is associated with poor prognosis in hepatocellular carcinoma. Fu SJ, et al. BMC Cancer, 2018 Aug 13. PMID 30103712, Free PMC Article

See all (134) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Expression of hornerin in skin lesions of atopic dermatitis and skin diseases.
    Title: Expression of hornerin in skin lesions of atopic dermatitis and skin diseases.
  2. PROK2, HRNR, and FIG4 as potential genetic biomarkers of high bleeding propensity in East Asian patients with acute coronary syndrome using ticagrelor.
    Title: PROK2, HRNR, and FIG4 as potential genetic biomarkers of high bleeding propensity in East Asian patients with acute coronary syndrome using ticagrelor.
  3. high order repeat formation conserved in apes
    Title: High Order Formation and Evolution of Hornerin in Primates.
  4. HRNR promotes tumor progression and is correlated with a poor hepatocellular carcinoma (HCC)prognosis. HRNR may contribute to HCC progression via the regulation of the AKT pathway.
    Title: Hornerin promotes tumor progression and is associated with poor prognosis in hepatocellular carcinoma.
  5. These results indicate that hornerin is highly expressed in pancreatic tumor endothelium and alters tumor vessel parameters through a VEGF-independent mechanism. Angiogenesis is essential for solid tumor progression.
    Title: Identification of the S100 fused-type protein hornerin as a regulator of tumor vascularity.
  6. HRNR gene function is a target of FLG adaptive sweep, and the functional FLG variants that involve susceptibility to atopic dermatitis, seem to hitchhike the selective sweep on HRNR.
    Title: Atopic Dermatitis Susceptibility Variants in Filaggrin Hitchhike Hornerin Selective Sweep.
  7. HRNR deimination improves its cross-linking by TGases and its proteolytic processing by calpain-1.
    Title: Deimination of Human Hornerin Enhances its Processing by Calpain-1 and its Cross-Linking by Transglutaminases.
  8. Human hornerin is a protein whose expression is changed by UVB irradiation.
    Title: Ultraviolet B irradiation induces the expression of hornerin in xenotransplanted human skin.
  9. Analysis of the rs877776 single nucleotide polymorphism in HRNR revealed neither a significant difference in genotype distribution between patients and controls nor a significant association of the variant with any atopic dermatitis-related phenotype.
    Title: Association of the chromosome 11q13.5 variant with atopic dermatitis in Austrian patients.
  10. Our data opens new possibilities for hornerin and its proteolytic fragments in the control of mammary cell function and breast cancer.
    Title: Hornerin, an S100 family protein, is functional in breast cells and aberrantly expressed in breast cancer.
Submit: New GeneRIF Correction See all GeneRIFs (14)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Pr55(Gag) gag Cellular biotinylated hornerin (HRNR) protein is incorporated into HIV-1 Gag virus-like particles PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables calcium ion binding IEA
Inferred from Electronic Annotation
more info
  
enables transition metal ion binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in cell envelope organization IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in establishment of skin barrier IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in establishment of skin barrier IEP
Inferred from Expression Pattern
more info
 PubMed 
involved_in keratinization IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in azurophil granule lumen TAS
Traceable Author Statement
more info
  
located_in collagen-containing extracellular matrix HDA PubMed 
is_active_in cornified envelope IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cornified envelope IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in extracellular exosome HDA PubMed 
located_in extracellular region TAS
Traceable Author Statement
more info
  
is_active_in keratohyalin granule IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in keratohyalin granule IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleus HDA PubMed 
located_in perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
hornerin
Names
filaggrin family member 3
intermediate filament-associated protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001009931.3 → NP_001009931.1  hornerin

    See identical proteins and their annotated locations for NP_001009931.1

    Status: VALIDATED

    Source sequence(s)
    AL589986
    Consensus CDS
    CCDS30859.1
    UniProtKB/Swiss-Prot
    Q5DT20, Q5U1F4, Q86YZ3
    Related
    ENSP00000357791.3, ENST00000368801.4
    Conserved Domains (2) summary
    cd00213
    Location:2 → 89
    S-100; S-100: S-100 domain, which represents the largest family within the superfamily of proteins carrying the Ca-binding EF-hand motif. Note that this S-100 hierarchy contains only S-100 EF-hand domains, other EF-hands have been modeled separately. S100 ...
    pfam13499
    Location:24 → 75
    EF-hand_7; EF-hand domain pair

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    152212076..152224193 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q86YZ3.2 GenPept UniProtKB/Swiss-Prot:Q86YZ3

Gene LinkOut

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