InnateDB Protein
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IDBP-52347.6
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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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SPINK5
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Protein Name
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serine peptidase inhibitor, Kazal type 5
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Synonyms
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LEKTI; LETKI; NETS; NS; VAKTI;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000256084
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InnateDB Gene
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IDBG-52343 (SPINK5)
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Protein Structure
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Function |
Serine protease inhibitor, probably important for the anti-inflammatory and/or antimicrobial protection of mucous epithelia. Contribute to the integrity and protective barrier function of the skin by regulating the activity of defense- activating and desquamation-involved proteases. Inhibits KLK5, it's major target, in a pH-dependent manner. Inhibits KLK7, KLK14 CASP14, and trypsin. {ECO:0000269PubMed:10419450, ECO:0000269PubMed:17596512, ECO:0000269PubMed:20533828}.
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Subcellular Localization |
Secreted.
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Disease Associations |
Netherton syndrome (NETH) [MIM:256500]: An autosomal recessive congenital ichthyosis associated with hair shaft abnormalities and anomalies of the immune system. Typical features are ichthyosis linearis circumflexa, ichthyosiform erythroderma, trichorrhexis invaginata (bamboo hair), atopic dermatitis, and hayfever. High postnatal mortality is due to failure to thrive, infections and hypernatremic dehydration. {ECO:0000269PubMed:10835624}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
Highly expressed in the thymus and stratum corneum. Also found in the oral mucosa, parathyroid gland, Bartholin's glands, tonsils, and vaginal epithelium. Very low levels are detected in lung, kidney, and prostate. {ECO:0000269PubMed:10419450}.
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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 11 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
11
[view]
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Protein-Protein |
11
[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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Molecular Function |
Accession |
GO Term |
GO:0004867
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serine-type endopeptidase inhibitor activity
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GO:0005515
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protein binding
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR002350
Kazal domain
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PFAM |
PF00050
PF07648
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PRINTS |
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PIRSF |
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SMART |
SM00280
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TIGRFAMs |
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Modification |
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SwissProt |
Q9NQ38
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PhosphoSite |
PhosphoSite-Q9NQ38
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
11005
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UniGene |
Hs.331555
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RefSeq |
NP_006837
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HUGO |
HGNC:15464
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OMIM |
605010
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CCDS |
CCDS43382
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HPRD |
05423
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IMGT |
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EMBL |
AC008722
AC116334
AF295783
AF295784
AJ228139
AJ270944
AJ276577
AJ276578
AJ276579
AJ276580
AJ391230
AJ391231
AJ391232
AJ391233
AJ391234
AJ391235
AJ391236
AJ391237
AJ391238
AJ391239
AJ391240
AJ391241
AJ391242
AJ391243
AJ391244
AJ391245
AJ391246
AJ391247
AJ391248
AJ391249
AJ391250
AJ391251
AJ391252
AJ391253
AJ391254
DQ149927
DQ149928
DQ149929
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GenPept |
AAK97139
AAK97140
ABA06534
ABA06535
ABA06536
CAB40839
CAB96877
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