SPRR1B (small proline rich protein 1B)

Gene Gene information from NCBI Gene database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 6699
Gene name Small proline rich protein 1B
Gene symbol SPRR1B
Synonyms (NCBI Gene)
CORNIFINGADD33SPR-IBSPRR1
Chromosome 1
Chromosome location 1q21.3
Summary The protein encoded by this gene is an envelope protein of keratinocytes. The encoded protein is crosslinked to membrane proteins by transglutaminase, forming an insoluble layer under the plasma membrane. This protein is proline-rich and contains several
miRNA miRNA information provided by mirtarbase database.
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Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (4)
miRTarBase ID miRNA Experiments Reference
MIRT1385958 hsa-miR-3609 CLIP-seq
MIRT1385959 hsa-miR-4506 CLIP-seq
MIRT1385960 hsa-miR-488 CLIP-seq
MIRT1385961 hsa-miR-548ah CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
4
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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Transcription factor Regulation Reference
EHF Activation 12682075
ELF3 Activation 12682075
JUN Activation 11792626;12682075
ZEB1 Activation 20042643
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0001533 Component Cornified envelope IDA 10908733
GO:0001533 Component Cornified envelope TAS
GO:0005198 Function Structural molecule activity TAS 1438308
GO:0005737 Component Cytoplasm IEA
GO:0005737 Component Cytoplasm TAS 1438308
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
182266 11260 ENSG00000169469
Protein Protein information from UniProt database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P22528
Protein name Cornifin-B (14.9 kDa pancornulin) (Small proline-rich protein IB) (SPR-IB)
Protein function Cross-linked envelope protein of keratinocytes. It is a keratinocyte protein that first appears in the cell cytosol, but ultimately becomes cross-linked to membrane proteins by transglutaminase. All that results in the formation of an insoluble
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02389 Cornifin 17 → 74 Disordered
PF02389 Cornifin 65 → 87 Disordered
Tissue specificity TISSUE SPECIFICITY: Suprabasal layers of squamous-differentiated tissues such as epidermis, esophagus, tongue and trachea.
Sequence
Sequence length 89
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Formation of the cornified envelope
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (3)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ATOPIC ECZEMA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
INFLAMMATORY SKIN DISEASE — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PSORIASIS — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (20)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma BEFREE 12832281
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 12832281
★★★★★
★☆☆☆☆
Found in Text Mining only
Bowen's Disease Pubtator 36085041 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Carcinoma Pubtator 7698221 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Squamous Cell Squamous cell carcinoma Pubtator 36085041 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Cholesteatoma Cholesteatoma Pubtator 23285167 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Craniosynostosis Craniosynostosis BEFREE 28859701
★★★★★
★☆☆☆☆
Found in Text Mining only
Dermatitis Atopic Atopic dermatitis Pubtator 37540585 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Dermatologic disorders Dermatologic Disorders BEFREE 9008234
★★★★★
★☆☆☆☆
Found in Text Mining only
Dry Eye Syndromes Dry Eye Syndromes BEFREE 18172072
★★★★★
★☆☆☆☆
Found in Text Mining only