Version 5.4
| Homo sapiens Protein: DSG4 | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Summary | |||||||||
| InnateDB Protein | IDBP-2039.6 | ||||||||
| Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||
| Gene Symbol | DSG4 | ||||||||
| Protein Name | desmoglein 4 | ||||||||
| Synonyms | |||||||||
| Species | Homo sapiens | ||||||||
| Ensembl Protein | ENSP00000311859 | ||||||||
| InnateDB Gene | IDBG-2037 (DSG4) | ||||||||
| Protein Structure |
|
||||||||
| UniProt Annotation | |||||||||
| Function | Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion. Coordinates the transition from proliferation to differentiation in hair follicle keratinocytes (By similarity). {ECO:0000250}. | ||||||||
| Subcellular Localization | Cell membrane {ECO:0000250}; Single-pass type I membrane protein {ECO:0000250}. Cell junction, desmosome {ECO:0000250}. | ||||||||
| Disease Associations | Hypotrichosis 6 (HYPT6) [MIM:607903]: A condition characterized by the presence of less than the normal amount of hair and abnormal hair follicles and shafts, which are thin and atrophic. The disorder affects the trunk and extremities as well as the scalp, and the eyebrows and eyelashes may also be involved, whereas beard, pubic, and axillary hairs are largely spared. In addition, patients can develop hyperkeratotic follicular papules, erythema, and pruritus in affected areas. In some patients with congenital hypotrichosis, monilethrix-like hairs showing elliptical nodes have been observed. {ECO:0000269PubMed:15191570}. Note=The disease is caused by mutations affecting the gene represented in this entry.Note=Autoantibodies against DSG4 are found in patients with pemphigus vulgaris. Pemphigus vulgaris is a potentially lethal skin disease in which epidermal blisters occur as the result of the loss of cell-cell adhesion. | ||||||||
| Tissue Specificity | Highly expressed in skin, testis and prostate; less in salivary gland. In scalp follicles, present in the inner root sheath (IRS) and all layers of the matrix and precortex. {ECO:0000269PubMed:12648213, ECO:0000269PubMed:12705872}. | ||||||||
| Comments | |||||||||
| Interactions | |||||||||
| Number of Interactions |
This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
|
||||||||
| Gene Ontology | |||||||||
Molecular Function |
|
||||||||
| Biological Process |
|
||||||||
| Cellular Component |
|
||||||||
| Protein Structure and Domains | |||||||||
| PDB ID | |||||||||
| InterPro |
IPR000233
Cadherin, cytoplasmic domain IPR002126 Cadherin IPR009122 Desmosomal cadherin IPR009123 Desmoglein IPR015919 Cadherin-like |
||||||||
| PFAM |
PF01049
PF00028 |
||||||||
| PRINTS |
PR00205
PR01818 PR01819 |
||||||||
| PIRSF | |||||||||
| SMART |
SM00112
|
||||||||
| TIGRFAMs | |||||||||
| Post-translational Modifications | |||||||||
| Modification | |||||||||
| Cross-References | |||||||||
| SwissProt | Q86SJ6 | ||||||||
| PhosphoSite | PhosphoSite-Q86SJ6 | ||||||||
| TrEMBL | |||||||||
| UniProt Splice Variant | |||||||||
| Entrez Gene | 147409 | ||||||||
| UniGene | Hs.407618 | ||||||||
| RefSeq | NP_817123 | ||||||||
| HUGO | HGNC:21307 | ||||||||
| OMIM | 607892 | ||||||||
| CCDS | CCDS11897 | ||||||||
| HPRD | 06387 | ||||||||
| IMGT | |||||||||
| EMBL | AY168788 AY177663 AY177664 AY227350 AY228236 BC039098 BC132907 BC132909 | ||||||||
| GenPept | AAH39098 AAI32908 AAI32910 AAO43657 AAO47077 AAO47078 AAP45000 AAP49811 | ||||||||