|
InnateDB Protein
|
IDBP-584950.3
|
|
Last Modified
|
2014-10-13 [Report errors or provide feedback]
|
|
Gene Symbol
|
SERPINB7
|
|
Protein Name
|
serpin peptidase inhibitor, clade B (ovalbumin), member 7
|
|
Synonyms
|
MEGSIN; PPKN; TP55;
|
|
Species
|
Homo sapiens
|
|
Ensembl Protein
|
ENSP00000444861
|
|
InnateDB Gene
|
IDBG-4531 (SERPINB7)
|
|
Protein Structure
|
|
| Function |
Might function as an inhibitor of Lys-specific proteases. Might influence the maturation of megakaryocytes via its action as a serpin.
|
| Subcellular Localization |
Cytoplasm {ECO:0000250}.
|
| Disease Associations |
Keratoderma, palmoplantar, Nagashima type (PPKN) [MIM:615598]: An autosomal recessive, non-syndromic, diffuse palmoplantar keratosis characterized by well-demarcated diffuse erythematous hyperkeratosis expanding onto the dorsal surfaces of the palms and feet and the Achilles tendon area. Hyperkeratosis is mild and non-progressive. {ECO:0000269PubMed:24207119}. Note=The disease is caused by mutations affecting the gene represented in this entry.
|
| Tissue Specificity |
Predominantly expressed in mesangial cells. Expressed in the epidermis of the whole body. {ECO:0000269PubMed:24207119}.
|
| Comments |
|
|
Number of Interactions
|
This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
|
|
| Predicted by orthology |
| Total |
1 [view]
|
|
|
Molecular Function |
| Accession |
GO Term |
|
GO:0004867
|
serine-type endopeptidase inhibitor activity
|
|
| Biological Process |
|
| Cellular Component |
|
| PDB ID |
|
| InterPro |
IPR023796
Serpin domain
|
| PFAM |
PF00079
|
| PRINTS |
|
| PIRSF |
|
| SMART |
SM00093
|
| TIGRFAMs |
|
| Modification |
|
| SwissProt |
O75635
|
| PhosphoSite |
PhosphoSite-O75635
|
| TrEMBL |
Q6MZG5
|
| UniProt Splice Variant |
|
| Entrez Gene |
8710
|
| UniGene |
Hs.742388
|
| RefSeq |
NP_001248759
|
| HUGO |
HGNC:13902
|
| OMIM |
603357
|
| CCDS |
CCDS11988
|
| HPRD |
04524
|
| IMGT |
|
| EMBL |
AC069356
AC072051
AF027866
AK300828
BC069417
BC069442
BC069547
BC106743
BC106744
BX641156
D88575
|
| GenPept |
AAC64506
AAH69417
AAH69442
AAH69547
AAI06744
AAI06745
BAA31232
BAG62480
CAE46069
|
|
|
|