Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	3713
Gene name Gene Name - the full gene name approved by the HGNC.	Involucrin
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	IVL
Synonyms (NCBI Gene) Gene synonyms aliases	-
Chromosome Chromosome number	1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	1q21.3
Summary Summary of gene provided in NCBI Entrez Gene.	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

Show/Hide all(1)

miRTarBase ID	miRNA	Experiments	Reference
MIRT017980	hsa-miR-335-5p	Microarray	18185580

Transcription factors

Show/Hide all(9)

Transcription factor	Regulation	Reference
FOSL1	Unknown	10816578;15790882
FOSL2	Unknown	10816578
HOXA7	Activation	11435435
JUNB	Unknown	15790882
JUND	Unknown	10816578
KLF4	Unknown	23599428
SP1	Unknown	15191537;9512462
STAT1	Repression	10585866
YY1	Unknown	8550612

Show/Hide all(15)

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
GO:0005813	Component	Centrosome	IDA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0010224	Process	Response to UV-B	IDA	16639001
GO:0016604	Component	Nuclear body	IDA
GO:0018149	Process	Peptide cross-linking	IDA	10908733
GO:0018153	Process	Isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine	TAS	1601889
GO:0030216	Process	Keratinocyte differentiation	IDA	10908733
GO:0031424	Process	Keratinization	IEA
GO:0070062	Component	Extracellular exosome	HDA	19199708

MIM	HGNC	e!Ensembl
147360	6187	ENSG00000163207

Protein

UniProt ID

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

MSQQHTLPVTLSPALSQELLKTVPPPVNTHQEQMKQPTPLPPPCQKVPVELPVEVPSKQE
EKHMTAVKGLPEQECEQQQKEPQEQELQQQHWEQHEEYQKAENPEQQLKQEKTQRDQQLN
KQLEEEKKLLDQQLDQELVKRDEQLGMKKEQLLELPEQQEGHLKHLEQQEGQLKHPEQQE
GQLELPEQQEGQLELPEQQEGQLELPEQQEGQLELPEQQEGQLELPEQQEGQLELPQQQE
GQLELSEQQEGQLELSEQQEGQLKHLEHQEGQLEVPEEQMGQLKYLEQQEGQLKHLDQQE
KQPELPEQQMGQLKHLEQQEGQPKHLEQQEGQLEQLEEQEGQLKHLEQQEGQLEHLEHQE
GQLGLPEQQVLQLKQLEKQQGQPKHLEEEEGQLKHLVQQEGQLKHLVQQEGQLEQQERQV
EHLEQQVGQLKHLEEQEGQLKHLEQQQGQLEVPEQQVGQPKNLEQEEKQLELPEQQEGQV
KHLEKQEAQLELPEQQVGQPKHLEQQEKHLEHPEQQDGQLKHLEQQEGQLKDLEQQKGQL
EQPVFAPAPGQVQDIQPALPTKGEVLLPVEHQQQKQEVQWPPKHK

Sequence length

585

Interactions

View interactions

	Reactome
			Formation of the cornified envelope

Show/Hide Unknown Diseases (2)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Asthma	Atopic asthma, Asthma in any disease	N/A	N/A	GWAS
Dermatitis	Atopic dermatitis	N/A	N/A	GWAS

Show/Hide Text Mining Associations (27)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
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
Leukoplakia	Associate	28273205
Lichen Planus Oral	Associate	30213231
Lupus Erythematosus Systemic	Stimulate	19089296
Melanoma	Associate	32869947, 32934956
Melanoma Cutaneous Malignant	Associate	32869947, 32934956
Mouth Neoplasms	Associate	28273205
Necrosis	Associate	9166948
Neoplasm Metastasis	Inhibit	9166948
Neoplasms	Inhibit	2458856
Neoplasms	Associate	37445934, 6392430, 9166940
Nevus Sebaceous of Jadassohn	Associate	24068133, 29166506
Psoriasis	Associate	24068133, 31996098
Skin Diseases	Associate	28584210
Squamous Cell Carcinoma of Head and Neck	Associate	22461910, 28273205
Triple Negative Breast Neoplasms	Associate	34659224
Ulcer	Stimulate	18373736
Uterine Cervical Dysplasia	Inhibit	24796531

IVL (involucrin)