Details for: SBSN

Gene ID: 374897

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: SBSN

Ensembl ID: ENSG00000189001

Description: suprabasin

Cell Significance Landscape

Associated with

Significant Cells

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

  • keratinocyte CL0000312
    CSI 8.32
    rCSI 6.98%
    PRS 99.5
  • epithelial cell CL0000066
    CSI 3.45
    rCSI 5.3%
    PRS 99.35
  • squamous epithelial cell CL0000076
    CSI 2.67
    rCSI 6.33%
    PRS 99.58
  • glutamatergic neuron CL0000679
    CSI 2.32
    rCSI 4.77%
    PRS 98.95
  • epithelial cell of esophagus CL0002252
    CSI 1.29
    rCSI 12.74%
    PRS 99.79
  • hair follicular keratinocyte CL2000092
    CSI 0.59
    rCSI 10.34%
    PRS 99.55

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):
    • Very High
    • High
    • Medium
    • Low
    • Very Low
    • CSI N/A
  • 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 [SBSN](/details-gene/374897), or suprabasin, is a protein-coding gene located on chromosome 19q13.12. The protein product is a key marker of epidermal differentiation and is thought to function as a precursor to the cornified envelope, a critical structure for skin barrier function [Link](https://doi.org/10.1074/jbc.m205380200). Consistent with this role, [SBSN](/details-gene/374897) shows highly specific and abundant expression in epithelial lineages, most notably in [keratinocytes](/details-cell/CL0000312) and other [epithelial cells](/details-cell/CL0000066), underscoring its central role in the biology of stratified epithelia. ## Cellular Roles and Expression Landscape **Overall**, the expression profile of [SBSN](/details-gene/374897) firmly establishes it as a specialist gene involved in epithelial biology. The gene exhibits its most significant expression in [keratinocytes](/details-cell/CL0000312) (CSI: 8.32), a cell type responsible for forming the epidermal barrier. This is further supported by high significance scores in related cell types, including general [epithelial cells](/details-cell/CL0000066) (CSI: 3.45), [squamous epithelial cells](/details-cell/CL0000076) (CSI: 2.67), [epithelial cells of the esophagus](/details-cell/CL0002252) (CSI: 1.29), and [hair follicular keratinocytes](/details-cell/CL2000092) (CSI: 0.59). This collective expression pattern highlights its conserved role across various stratified epithelial tissues. Interestingly, a notable significance score is also observed in [glutamatergic neurons](/details-cell/CL0000679) (CSI: 2.32), which suggests a potential, yet poorly understood, secondary function outside of epithelial tissues. ## Pathways and Molecular Function The functional annotations for [SBSN](/details-gene/374897) align perfectly with its cellular expression profile. It is a key participant in the Reactome pathway for `Differentiation of keratinocytes in interfollicular epidermis in mammalian skin` ([R-HSA-9725554](https://reactome.org/content/detail/R-HSA-9725554)), a process central to its high expression in [keratinocytes](/details-cell/CL0000312). More broadly, it is involved in `Developmental biology` ([R-HSA-1266738](https://reactome.org/content/detail/R-HSA-1266738)). Its annotated molecular functions include `Protein binding` ([GO:0005515](https://www.ebi.ac.uk/QuickGO/term/GO:0005515)), suggesting it may act as a scaffold or structural component during the assembly of the cornified envelope. Furthermore, its identification as a component of the `Extracellular exosome` ([GO:0070062](https://www.ebi.ac.uk/QuickGO/term/GO:0070062)) and its initial discovery through a large-scale screen for secreted proteins [Link](https://doi.org/10.1101/gr.1293003) indicate it may also function as a secreted molecule, potentially influencing cell-cell communication within the epidermis. ## Research Directions The highly specific expression of [SBSN](/details-gene/374897) in differentiating epithelial cells makes it a compelling subject for research into skin biology and pathology. Here are several testable hypotheses: 1. Given its role as a potential cornified envelope precursor, loss-of-function of [SBSN](/details-gene/374897) will lead to a compromised epidermal barrier, resulting in increased transepidermal water loss and heightened sensitivity to environmental insults. 2. As an exosomal protein, secreted [SBSN](/details-gene/374897) acts as a paracrine signal to coordinate the terminal differentiation program among suprabasal [keratinocytes](/details-cell/CL0000312), ensuring synchronous barrier formation. 3. The unexpected expression in [glutamatergic neurons](/details-cell/CL0000679) suggests a novel role in the central nervous system, where it may participate in protein complexes related to synaptic structure or plasticity. A key experiment to test the first hypothesis would be to generate a keratinocyte-specific conditional knockout of [SBSN](/details-gene/374897) in mice (e.g., using a KRT14-Cre driver). These mice could then be evaluated for skin barrier integrity using biophysical measurements (e.g., TEWL) and for structural defects in the stratum corneum via transmission electron microscopy. Additionally, in vitro studies using siRNA-mediated knockdown of [SBSN](/details-gene/374897) in organotypic human skin models could be used to assess its impact on the expression of other key differentiation markers, such as loricrin and filaggrin. Regarding its therapeutic potential, [SBSN](/details-gene/374897) presents an interesting target for dermatological conditions. In diseases of hyperkeratosis such as psoriasis, where epithelial differentiation is aberrant, [SBSN](/details-gene/374897) could be a target for **inhibition** via topical RNA-based therapeutics. Conversely, in conditions characterized by a defective skin barrier (e.g., atopic dermatitis or certain forms of ichthyosis), strategies aimed at **activation** or topical delivery of recombinant suprabasin protein could represent a novel therapeutic avenue to restore barrier function. Its high tissue specificity suggests that targeting it may have a favorable safety profile with minimal off-target effects.

Genular Protein ID: 3004172113

Symbol: SBSN_HUMAN

Name: Suprabasin

UniProtKB Accession Codes:

Q6UWP8 A8K5J0 E9PBV3

Database IDs:

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

Citations:

PubMed ID: 12975309

Title: The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment.

PubMed ID: 12975309

DOI: 10.1101/gr.1293003

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 17974005

Title: The full-ORF clone resource of the German cDNA consortium.

PubMed ID: 17974005

DOI: 10.1186/1471-2164-8-399

PubMed ID: 15057824

Title: The DNA sequence and biology of human chromosome 19.

PubMed ID: 15057824

DOI: 10.1038/nature02399

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 12228223

Title: Suprabasin, a novel epidermal differentiation marker and potential cornified envelope precursor.

PubMed ID: 12228223

DOI: 10.1074/jbc.m205380200

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

Sequence Information:

  • Length: 590
  • Mass: 60541
  • Checksum: CC3391C48A409DEA
  • Sequence:
    • MHLARLVGSC SLLLLLGALS GWAASDDPIE KVIEGINRGL SNAEREVGKA LDGINSGITH 
AGREVEKVFN GLSNMGSHTG KELDKGVQGL NHGMDKVAHE INHGIGQAGK EAEKLGHGVN 
NAAGQVGKEA DKLIHHGVHH GANQAGSEAG KFGQGVDNAA GQAGNEAGRF GQGVHHAAGQ 
AGNEAGRFGQ GVHHAAGQAG NEAGRFGQGA HHGLSEGWKE TEKFGQGIHH AAGQVGKEAE 
KFGQGAHHAA GQAGNEAGRF GQGVHHGLSE GWKETEKFGQ GVHHTAGQVG KEAEKFGQGA 
HHAAGQAGNE AGRFGQGAHH AAGQAGNEAG RFGQGVHHGL SEGWKETEKF GQGVHHAASQ 
FGKETEKLGH GVHHGVNEAW KEAEKFGQGV HHAASQVGKE EDRVVQGLHH GVSQAGREAG 
QFGHDIHHTA GQAGKEGDIA VHGVQPGVHE AGKEAGQFGQ GVHHTLEQAG KEADKAVQGF 
HTGVHQAGKE AEKLGQGVNH AADQAGKEVE KLGQGAHHAA GQAGKELQNA HNGVNQASKE 
ANQLLNGNHQ SGSSSHQGGA TTTPLASGAS VNTPFINLPA LWRSVANIMP