IVL (involucrin)

Gene Gene information from NCBI Gene database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 3713
Gene name Involucrin
Gene symbol IVL
Synonyms (NCBI Gene)
-
Chromosome 1
Chromosome location 1q21.3
Summary Involucrin, a component of the keratinocyte crosslinked envelope, is found in the cytoplasm and crosslinked to membrane proteins by transglutaminase. This gene is mapped to 1q21, among calpactin I light chain, trichohyalin, profillaggrin, loricrin, and c
miRNA miRNA information provided by mirtarbase database.
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Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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miRTarBase ID miRNA Experiments Reference
MIRT017980 hsa-miR-335-5p Microarray 18185580
Transcription factors Transcription factors information provided by TRRUST V2 database.
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Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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Transcription factor Regulation Reference
FOSL1 Unknown 10816578;15790882
FOSL2 Unknown 10816578
HOXA7 Activation 11435435
JUNB Unknown 15790882
JUND Unknown 10816578
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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GO ID Ontology Definition Evidence Reference
GO:0001533 Component Cornified envelope IDA 10908733
GO:0001533 Component Cornified envelope TAS
GO:0005515 Function Protein binding IPI 21044950
GO:0005737 Component Cytoplasm IDA 16639001
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
147360 6187 ENSG00000163207
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.
P07476
Protein name Involucrin
Protein function Part of the insoluble cornified cell envelope (CE) of stratified squamous epithelia.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF10583 Involucrin_N 1 → 69 Involucrin of squamous epithelia N-terminus Domain
PF00904 Involucrin 104 → 112 Involucrin repeat Repeat
PF00904 Involucrin 156 → 165 Involucrin repeat Repeat
PF00904 Involucrin 166 → 175 Involucrin repeat Repeat
PF00904 Involucrin 176 → 185 Involucrin repeat Repeat
PF00904 Involucrin 186 → 195 Involucrin repeat Repeat
PF00904 Involucrin 196 → 205 Involucrin repeat Repeat
PF00904 Involucrin 206 → 215 Involucrin repeat Repeat
PF00904 Involucrin 216 → 225 Involucrin repeat Repeat
PF00904 Involucrin 226 → 235 Involucrin repeat Repeat
PF00904 Involucrin 236 → 245 Involucrin repeat Repeat
PF00904 Involucrin 247 → 255 Involucrin repeat Repeat
PF00904 Involucrin 257 → 265 Involucrin repeat Repeat
PF00904 Involucrin 266 → 275 Involucrin repeat Repeat
PF00904 Involucrin 276 → 285 Involucrin repeat Repeat
PF00904 Involucrin 286 → 295 Involucrin repeat Repeat
PF00904 Involucrin 296 → 305 Involucrin repeat Repeat
PF00904 Involucrin 306 → 315 Involucrin repeat Repeat
PF00904 Involucrin 316 → 325 Involucrin repeat Repeat
PF00904 Involucrin 326 → 335 Involucrin repeat Repeat
PF00904 Involucrin 336 → 345 Involucrin repeat Repeat
PF00904 Involucrin 346 → 355 Involucrin repeat Repeat
PF00904 Involucrin 356 → 365 Involucrin repeat Repeat
PF00904 Involucrin 366 → 375 Involucrin repeat Repeat
PF00904 Involucrin 376 → 385 Involucrin repeat Repeat
PF00904 Involucrin 386 → 395 Involucrin repeat Repeat
PF00904 Involucrin 398 → 405 Involucrin repeat Repeat
PF00904 Involucrin 408 → 415 Involucrin repeat Repeat
PF00904 Involucrin 413 → 422 Involucrin repeat Repeat
PF00904 Involucrin 423 → 432 Involucrin repeat Repeat
PF00904 Involucrin 433 → 442 Involucrin repeat Repeat
PF00904 Involucrin 443 → 452 Involucrin repeat Repeat
PF00904 Involucrin 453 → 461 Involucrin repeat Repeat
PF00904 Involucrin 463 → 472 Involucrin repeat Repeat
PF00904 Involucrin 473 → 482 Involucrin repeat Repeat
PF00904 Involucrin 483 → 492 Involucrin repeat Repeat
PF00904 Involucrin 493 → 502 Involucrin repeat Repeat
PF00904 Involucrin 503 → 512 Involucrin repeat Repeat
PF00904 Involucrin 513 → 522 Involucrin repeat Repeat
PF00904 Involucrin 523 → 531 Involucrin repeat Repeat
PF00904 Involucrin 533 → 542 Involucrin repeat Repeat
Tissue specificity TISSUE SPECIFICITY: Keratinocytes of epidermis and other stratified squamous epithelia.
Sequence
Sequence length 585
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 categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
EBV-positive nodal T- and NK-cell lymphoma Likely benign rs1374269393 RCV004557744
Show/Hide Text Mining Associations (27)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 10023336
Arthritis Psoriatic Associate 9138475
Breast Neoplasms Associate 37445934, 9166948
Carcinoma Squamous Cell Associate 10023336, 1381602, 14760391, 23999979
Dermatitis Atopic Inhibit 35462437
Dermatitis Atopic Associate 37540585
Esophageal Squamous Cell Carcinoma Associate 24796531
Hypoxia Stimulate 14760391
Inflammation Associate 37491398
Keratoacanthoma Stimulate 6392430