HRNR hornerin [Homo sapiens (human)] - Gene

Summary

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: mouse all
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Genomic context

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_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
high order repeat formation conserved in apes
Title: High Order Formation and Evolution of Hornerin in Primates.
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.
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.
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.
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.
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.
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.
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)

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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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 more info	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 more info	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 more info	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)

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