InnateDB Protein
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IDBP-602099.3
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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EXPH5
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Protein Name
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exophilin 5
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Synonyms
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SLAC2-B; SLAC2B;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000432546
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InnateDB Gene
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IDBG-70503 (EXPH5)
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Protein Structure
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Function |
May act as Rab effector protein and play a role in vesicle trafficking.
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Subcellular Localization |
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Disease Associations |
Epidermolysis bullosa, non-specific, autosomal recessive (EBNS) [MIM:615028]: A skin disease characterized by blistering of skin and mucosae, following minimal pressure or trauma. Various clinical types with different severity are recognized, ranging from severe mutilating forms to mild forms with limited and localized scarring, and less frequent extracutaneous manifestations. EBNS clinical features mainly comprise trauma- induced scale crusts and intermittent skin blistering. Some of the crusted areas are hemorrhagic and accompanied by occasional bruising. Most lesions clear over several weeks to leave slightly atrophic scars and moderate post-inflammatory hyperpigmentation. {ECO:0000269PubMed:23176819}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
Expressed in keratinocytes. {ECO:0000269PubMed:23176819}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated |
Total |
5
[view]
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Protein-Protein |
5
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
1 [view]
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR010911
Zinc finger, FYVE-type
IPR011011
Zinc finger, FYVE/PHD-type
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PFAM |
PF02318
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q8NEV8
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PhosphoSite |
PhosphoSite-Q8NEV8
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TrEMBL |
F5GXG5
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UniProt Splice Variant |
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Entrez Gene |
23086
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UniGene |
Hs.595312
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RefSeq |
XP_005271518
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HUGO |
HGNC:30578
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OMIM |
612878
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CCDS |
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HPRD |
08341
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IMGT |
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EMBL |
AB014524
AP000871
AP002453
AP005718
AY099469
BC113119
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GenPept |
AAI13120
AAM44402
BAA31599
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