SPRR1A (small proline rich protein 1A)

Gene Gene information from NCBI Gene database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 6698
Gene name Small proline rich protein 1A
Gene symbol SPRR1A
Synonyms (NCBI Gene)
SPRK
Chromosome 1
Chromosome location 1q21.3
miRNA miRNA information provided by mirtarbase database.
5
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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miRTarBase ID miRNA Experiments Reference
MIRT029568 hsa-miR-26b-5p Microarray 19088304
MIRT1385954 hsa-miR-2355-5p CLIP-seq
MIRT1385955 hsa-miR-3614-5p CLIP-seq
MIRT1385956 hsa-miR-3667-3p CLIP-seq
MIRT1385957 hsa-miR-640 CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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Transcription factor Regulation Reference
ELF3 Unknown 9733767
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 7543090, 10908733
GO:0001533 Component Cornified envelope TAS
GO:0005198 Function Structural molecule activity TAS 8325635
GO:0005515 Function Protein binding IPI 10066784, 32296183
GO:0005737 Component Cytoplasm IEA
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
182265 11259 ENSG00000169474
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.
P35321
Protein name Cornifin-A (19 kDa pancornulin) (SPRK) (Small proline-rich protein IA) (SPR-IA)
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 → 73 Disordered
PF02389 Cornifin 59 → 87 Disordered
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 (2)
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
CARCINOMA, SQUAMOUS CELL — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PAPILLOMA — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (26)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adult Diffuse Large B-Cell Lymphoma B-cell Lymphoma BEFREE 24886019
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 25424702 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Pancreatic Ductal Pancreatic ductal carcinoma Pubtator 35617311 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Squamous Cell Squamous cell carcinoma Pubtator 25424702 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Squamous Cell Squamous cell carcinoma Pubtator 9008234 Stimulate
★★★★★
★☆☆☆☆
Found in Text Mining only
Dermatitis Atopic Atopic dermatitis Pubtator 27304082, 32213830 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Dermatitis, Atopic Dermatitis BEFREE 19672094, 27304082
★★★★★
★☆☆☆☆
Found in Text Mining only
Diffuse Large B-Cell Lymphoma Diffuse Lymphoma BEFREE 24886019
★★★★★
★☆☆☆☆
Found in Text Mining only
Eczema Eczema BEFREE 19672094, 27304082
★★★★★
★☆☆☆☆
Found in Text Mining only
Esophageal Squamous Cell Carcinoma Esophageal squamous cell carcinoma Pubtator 25424702 Inhibit
★★★★★
★☆☆☆☆
Found in Text Mining only