Details for: RPTN

Gene ID: 126638

Gene Type:  Protein-coding  - A gene that serves as a template for producing a messenger RNA (mRNA) molecule, which is then translated into a functional protein.

Symbol: RPTN

Ensembl ID: ENSG00000215853

Description: repetin

Cell Significance Landscape

Associated with

Significant Cells

Cell Significance Index (CSI) scores for the chosen context(s)

  • squamous epithelial cell CL0000076
    CSI 4.37
    rCSI 10.36%
    PRS 99.96

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.
Network Configuration

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  • Node Color (Target Cell CSI, relative to current network):
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  • Node Size: Proportional to Target Cell CSI magnitude
  • STRING PPI Edge
  • Shared Pathway Edge (ONTOLOGY)

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Other Information

This section provides additional information about the gene, including a description generated by an AI language model and details about associated proteins.

## Summary [RPTN](/details-gene/126638) (repetin) is a protein-coding gene located on chromosome 1q21.3 within the epidermal differentiation complex (EDC), a locus containing numerous genes crucial for the formation of the epidermis. The repetin protein is a key structural component of the cornified envelope in terminally differentiated keratinocytes. Its function is intrinsically linked to skin barrier formation, which is supported by its annotated roles in '[Keratinization](/details-pathway/R-HSA-6805567)' and calcium ion binding. Consistent with this specialized function, [RPTN](/details-gene/126638) expression is highly significant and specific to [squamous epithelial cells](/details-cell/CL0000076), identifying it as a defining marker for this lineage and a critical element in epithelial biology. ## Cellular Roles and Expression Landscape The expression profile of [RPTN](/details-gene/126638) demonstrates a highly specialized role in epithelial tissue. **Overall**, analysis identifies the gene as a top marker for [squamous epithelial cells](/details-cell/CL0000076) (CSI: 4.37). This high significance suggests that [RPTN](/details-gene/126638) is not just expressed but is a fundamental component contributing to the unique identity and function of these cells. Its role as a member of the "fused gene" family within the EDC further underscores its specialized function in the terminal differentiation of keratinocytes, a process central to skin development and maintenance [Link](https://doi.org/10.1111/j.0022-202x.2005.23675.x). The specificity of its expression indicates a primary role in forming protective epithelial barriers rather than a broad function across multiple cell types. ## Pathways and Molecular Function The biological role of [RPTN](/details-gene/126638) is well-defined by its involvement in pathways governing epidermal development. It is a key participant in the Reactome pathways '[Formation of the cornified envelope](/details-pathway/R-HSA-6809371)' and '[Keratinization](/details-pathway/R-HSA-6805567)'. The cornified envelope is a highly insoluble protein structure essential for the skin's barrier function, protecting the body from environmental insults and dehydration. This function is supported by its molecular annotations from the Gene Ontology (GO) consortium. [RPTN](/details-gene/126638) is associated with '[Calcium ion binding](/details-go/GO:0005509)', a critical function in the epidermis where a calcium gradient regulates keratinocyte differentiation and the enzymatic cross-linking of proteins to form the cornified envelope. Its localization to the '[Cornified envelope](/details-go/GO:0001533)' itself confirms its role as a structural building block of this essential barrier structure. ## Research Directions Given the critical structural role of [RPTN](/details-gene/126638) in epithelial barrier integrity, future research should focus on its potential involvement in skin pathologies characterized by barrier dysfunction. **Proposed Hypotheses:** 1. Given its central role in the cornified envelope, inherited mutations or altered expression of [RPTN](/details-gene/126638) may be a contributing factor to the pathogenesis of ichthyoses or atopic dermatitis, conditions defined by compromised skin barrier function. 2. The expression and post-translational modification of [RPTN](/details-gene/126638) may be dynamically regulated by inflammatory cytokines (e.g., IL-4, IL-13, IL-17) in chronic skin diseases like psoriasis and eczema, contributing to the defective barrier observed in these conditions. **Key Experimental Approach:** To test the hypothesis that [RPTN](/details-gene/126638) is essential for epidermal barrier integrity (Hypothesis 1), a conditional knockout mouse model with a keratinocyte-specific deletion of `Rptn` could be generated. Barrier function in these mice would be assessed using non-invasive techniques such as transepidermal water loss (TEWL) measurements and dye penetration assays. Skin biopsies would be analyzed via electron microscopy to identify specific ultrastructural defects in the formation of the cornified envelope, directly linking the absence of repetin to a quantifiable barrier defect. **Therapeutic Potential:** As a fundamental structural protein, [RPTN](/details-gene/126638) is an unlikely target for conventional inhibition-based therapies. However, if loss-of-function variants are linked to specific skin diseases, it could be a candidate for therapeutic strategies aimed at restoration or replacement. This might include gene therapy approaches or the development of topical formulations containing peptides that mimic [RPTN](/details-gene/126638)'s structural or binding domains to help restore barrier function. The high tissue specificity of [RPTN](/details-gene/126638) would be a significant advantage, potentially minimizing off-target effects of such therapies.

Genular Protein ID: 3830455553

Symbol: RPTN_HUMAN

Name: Repetin

UniProtKB Accession Codes:

Q6XPR3 B7ZBZ3

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChEBI 6 DMDM 1 DNASU 1 DisGeNET 1 EMBL 3 Ensembl 1 GO 5 Gene3D 1 GeneCards 1 GeneTree 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 7 KEGG 1 MANE-Select 1 MIM 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PRO 1 PROSITE 3 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 Reactome 1 RefSeq 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 15854042

Title: Isolation and characterization of human repetin, a member of the fused gene family of the epidermal differentiation complex.

PubMed ID: 15854042

DOI: 10.1111/j.0022-202x.2005.23675.x

PubMed ID: 16710414

Title: The DNA sequence and biological annotation of human chromosome 1.

PubMed ID: 16710414

DOI: 10.1038/nature04727

Sequence Information:

  • Length: 784
  • Mass: 90731
  • Checksum: B4B031B4778EBAA3
  • Sequence:
    • MAQLLNSILS VIDVFHKYAK GNGDCALLCK EELKQLLLAE FGDILQRPND PETVETILNL 
LDQDRDGHID FHEYLLLVFQ LVQACYHKLD NKSHGGRTSQ QERGQEGAQD CKFPGNTGRQ 
HRQRHEEERQ NSHHSQPERQ DGDSHHGQPE RQDRDSHHGQ SEKQDRDSHH SQPERQDRDS 
HHNQSERQDK DFSFDQSERQ SQDSSSGKKV SHKSTSGQAK WQGHIFALNR CEKPIQDSHY 
GQSERHTQQS ETLGQASHFN QTNQQKSGSY CGQSERLGQE LGCGQTDRQG QSSHYGQTDR 
QDQSYHYGQT DRQGQSSHYS QTDRQGQSSH YSQPDRQGQS SHYGQMDRKG QCYHYDQTNR 
QGQGSHYSQP NRQGQSSHYG QPDTQDQSSH YGQTDRQDQS SHYGQTERQG QSSHYSQMDR 
QGQGSHYGQT DRQGQSSHYG QPDRQGQNSH YGQTDRQGQS SHYGQTDRQG QSSHYSQPDK 
QGQSSHYGKI DRQDQSYHYG QPDGQGQSSH YGQTDRQGQS FHYGQPDRQG QSSHYSQMDR 
QGQSSHYGQT DRQGQSSHYG QTDRQGQSYH YGQTDRQGQS SHYIQSQTGE IQGQNKYFQG 
TEGTRKASYV EQSGRSGRLS QQTPGQEGYQ NQGQGFQSRD SQQNGHQVWE PEEDSQHHQH 
KLLAQIQQER PLCHKGRDWQ SCSSEQGHRQ AQTRQSHGEG LSHWAEEEQG HQTWDRHSHE 
SQEGPCGTQD RRTHKDEQNH QRRDRQTHEH EQSHQRRDRQ THEDKQNRQR RDRQTHEDEQ 
NHQR