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Aliases for SPINK5 Gene

Aliases for SPINK5 Gene

  • Serine Peptidase Inhibitor, Kazal Type 5 2 3
  • LEKTI 3 4 6
  • Lympho-Epithelial Kazal-Type-Related Inhibitor 3 4
  • Lymphoepithelial Kazal-Type-Related Inhibitor 2 3
  • Serine Protease Inhibitor, Kazal Type 5 2 3
  • Serine Protease Inhibitor Kazal-Type 5 3
  • LETKI 3
  • VAKTI 3
  • NETS 3
  • NS 3

External Ids for SPINK5 Gene

Previous GeneCards Identifiers for SPINK5 Gene

  • GC05P147475
  • GC05P147472
  • GC05P147423
  • GC05P142590

Summaries for SPINK5 Gene

Entrez Gene Summary for SPINK5 Gene

  • This gene encodes a multidomain serine protease inhibitor that contains 15 potential inhibitory domains. The inhibitor may play a role in skin and hair morphogenesis and anti-inflammatory and/or antimicrobial protection of mucous epithelia. Mutations may result in Netherton syndrome, a disorder characterized by ichthyosis, defective cornification, and atopy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for SPINK5 Gene

SPINK5 (Serine Peptidase Inhibitor, Kazal Type 5) is a Protein Coding gene. Diseases associated with SPINK5 include netherton syndrome and ichthyosis linearis circumflexa. Among its related pathways are Cell adhesion_Plasmin signaling. GO annotations related to this gene include serine-type endopeptidase inhibitor activity.

UniProtKB/Swiss-Prot for SPINK5 Gene

  • 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, its major target, in a pH-dependent manner. Inhibits KLK7, KLK14 CASP14, and trypsin.

Gene Wiki entry for SPINK5 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SPINK5 Gene

Genomics for SPINK5 Gene

Regulatory Elements for SPINK5 Gene

Genomic Location for SPINK5 Gene

Start:
148,025,683 bp from pter
End:
148,137,362 bp from pter
Size:
111,680 bases
Orientation:
Plus strand

Genomic View for SPINK5 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SPINK5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SPINK5 Gene

Proteins for SPINK5 Gene

  • Protein details for SPINK5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NQ38-ISK5_HUMAN
    Recommended name:
    Serine protease inhibitor Kazal-type 5
    Protein Accession:
    Q9NQ38
    Secondary Accessions:
    • A8MYE8
    • B7WPB7
    • D6REN5
    • O75770
    • Q3LX95
    • Q3LX96
    • Q3LX97
    • Q96PP2
    • Q96PP3

    Protein attributes for SPINK5 Gene

    Size:
    1064 amino acids
    Molecular mass:
    120714 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for SPINK5 Gene

    Alternative splice isoforms for SPINK5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SPINK5 Gene

Proteomics data for SPINK5 Gene at MOPED

Post-translational modifications for SPINK5 Gene

  • Proteolytically processed by furin in individual domains (D1, D5, D6, D8 through D11, and D9 through D15) exhibiting various inhibitory potentials for multiple proteases.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SPINK5 Gene

No data available for DME Specific Peptides for SPINK5 Gene

Domains for SPINK5 Gene

Gene Families for SPINK5 Gene

HGNC:
  • SPINK :Serine peptidase inhibitors, Kazal type

Protein Domains for SPINK5 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for SPINK5 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9NQ38

UniProtKB/Swiss-Prot:

ISK5_HUMAN :
  • Q9NQ38
Domain:
  • Contains at least one active inhibitory domain for trypsin (domain 6)
  • Contains 15 Kazal-like domains.
genes like me logo Genes that share domains with SPINK5: view

Function for SPINK5 Gene

Molecular function for SPINK5 Gene

UniProtKB/Swiss-Prot 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, its major target, in a pH-dependent manner. Inhibits KLK7, KLK14 CASP14, and trypsin.

Gene Ontology (GO) - Molecular Function for SPINK5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004867 serine-type endopeptidase inhibitor activity IDA 10419450
GO:0005515 protein binding --
GO:0030414 peptidase inhibitor activity --
genes like me logo Genes that share ontologies with SPINK5: view
genes like me logo Genes that share phenotypes with SPINK5: view

Animal Models for SPINK5 Gene

MGI Knock Outs for SPINK5:

miRNA for SPINK5 Gene

miRTarBase miRNAs that target SPINK5

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for SPINK5 Gene

Localization for SPINK5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SPINK5 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SPINK5 Gene COMPARTMENTS Subcellular localization image for SPINK5 gene
Compartment Confidence
cytosol 5
endoplasmic reticulum 5
extracellular 5
mitochondrion 1
nucleus 1

Gene Ontology (GO) - Cellular Components for SPINK5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region NAS 10419450
GO:0005737 cytoplasm IDA 12915442
GO:0005783 endoplasmic reticulum IDA 15680911
GO:0005789 endoplasmic reticulum membrane IDA 15680911
GO:0005829 cytosol IDA 15680911
genes like me logo Genes that share ontologies with SPINK5: view

Pathways for SPINK5 Gene

genes like me logo Genes that share pathways with SPINK5: view

Pathways by source for SPINK5 Gene

1 GeneGo (Thomson Reuters) pathway for SPINK5 Gene

Interacting Proteins for SPINK5 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000352936%0d%0a9606.ENSP00000308720%0d%0a
Selected Interacting proteins: ENSP00000352936 Q9NQ38-ISK5_HUMAN for SPINK5 Gene via STRING I2D

Gene Ontology (GO) - Biological Process for SPINK5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0009913 epidermal cell differentiation IDA 12915442
GO:0010951 negative regulation of endopeptidase activity IEA --
GO:0016525 negative regulation of angiogenesis TAS 15680911
GO:0030155 regulation of cell adhesion --
GO:0030198 extracellular matrix organization TAS 15680911
genes like me logo Genes that share ontologies with SPINK5: view

Compounds for SPINK5 Gene

(1) Novoseek inferred chemical compound relationships for SPINK5 Gene

Compound -log(P) Hits PubMed IDs
serine 74 41
genes like me logo Genes that share compounds with SPINK5: view

Transcripts for SPINK5 Gene

Unigene Clusters for SPINK5 Gene

Serine peptidase inhibitor, Kazal type 5:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SPINK5 Gene

No ASD Table

Relevant External Links for SPINK5 Gene

GeneLoc Exon Structure for
SPINK5
ECgene alternative splicing isoforms for
SPINK5

Expression for SPINK5 Gene

mRNA expression in normal human tissues for SPINK5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SPINK5 Gene

This gene is overexpressed in Esophagus - Mucosa (22.8), Vagina (11.4), Cervix - Ectocervix (7.5), and Skin - Sun Exposed (Lower leg) (4.2).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for SPINK5 Gene

SOURCE GeneReport for Unigene cluster for SPINK5 Gene Hs.331555

mRNA Expression by UniProt/SwissProt for SPINK5 Gene

Q9NQ38-ISK5_HUMAN
Tissue specificity: Highly expressed in the thymus and stratum corneum. Also found in the oral mucosa, parathyroid gland, Bartholins glands, tonsils, and vaginal epithelium. Very low levels are detected in lung, kidney, and prostate.
genes like me logo Genes that share expressions with SPINK5: view

Orthologs for SPINK5 Gene

This gene was present in the common ancestor of chordates.

Orthologs for SPINK5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SPINK5 35
  • 99.12 (n)
  • 98.45 (a)
cow
(Bos Taurus)
Mammalia SPINK5 35
  • 75.62 (n)
  • 67.35 (a)
SPINK5 36
  • 74 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SPINK5 35
  • 84.6 (n)
  • 79.92 (a)
SPINK5 36
  • 79 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Spink5 35
  • 69.89 (n)
  • 60.12 (a)
Spink5 16
Spink5 36
  • 65 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SPINK5 36
  • 54 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 51 (a)
OneToMany
-- 36
  • 46 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Spink5 35
  • 68.54 (n)
  • 58.88 (a)
chicken
(Gallus gallus)
Aves SPINK5 36
  • 28 (a)
OneToOne
SPINK7 35
  • 47.87 (n)
  • 35.47 (a)
lizard
(Anolis carolinensis)
Reptilia SPINK5 36
  • 30 (a)
OneToOne
Species with no ortholog for SPINK5:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for SPINK5 Gene

ENSEMBL:
Gene Tree for SPINK5 (if available)
TreeFam:
Gene Tree for SPINK5 (if available)

Paralogs for SPINK5 Gene

Selected SIMAP similar genes for SPINK5 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with SPINK5: view

No data available for Paralogs for SPINK5 Gene

Variants for SPINK5 Gene

Sequence variations from dbSNP and Humsavar for SPINK5 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type MAF
rs880687 -- 148,107,114(-) TCTGG(A/G/T)CCACG synonymous-codon, reference
rs986493 -- 148,069,632(-) TTTTA(A/G)AAAGT intron-variant
rs986494 -- 148,069,504(-) ATAAG(C/G)CTTTC intron-variant
rs986495 -- 148,069,382(-) TAACT(C/G)CGTTA intron-variant
rs988885 -- 148,108,422(-) TAAAC(C/T)TTTCC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SPINK5 Gene

Variant ID Type Subtype PubMed ID
nsv883015 CNV Loss 21882294
nsv830515 CNV Gain+Loss 17160897
esv2569672 CNV Deletion 19546169
esv1953564 CNV Deletion 18987734
esv3555 CNV Deletion 18987735
esv2730894 CNV Deletion 23290073
esv8009 CNV Loss 19470904
nsv328025 CNV Loss 16902084
nsv327946 CNV Loss 16902084

Relevant External Links for SPINK5 Gene

HapMap Linkage Disequilibrium report
SPINK5
Human Gene Mutation Database (HGMD)
SPINK5
Locus Specific Mutation Databases (LSDB)
SPINK5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SPINK5 Gene

Disorders for SPINK5 Gene

(2) OMIM Diseases for SPINK5 Gene (605010)

UniProtKB/Swiss-Prot

ISK5_HUMAN
  • 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:0000269 PubMed:10835624}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(3) University of Copenhagen DISEASES for SPINK5 Gene

(11) Novoseek inferred disease relationships for SPINK5 Gene

Disease -log(P) Hits PubMed IDs
netherton syndrome 98.7 33
ichthyosiform erythroderma congenital 91.8 2
congenital ichthyosis 81.4 1
ichthyosis 76.1 2
dermatitis atopic 75.8 18

Relevant External Links for SPINK5

Genetic Association Database (GAD)
SPINK5
Human Genome Epidemiology (HuGE) Navigator
SPINK5
genes like me logo Genes that share disorders with SPINK5: view

Publications for SPINK5 Gene

  1. The spectrum of pathogenic mutations in SPINK5 in 19 families with Netherton syndrome: implications for mutation detection and first case of prenatal diagnosis. (PMID: 11511292) Sprecher E. … Richard G. (J. Invest. Dermatol. 2001) 3 4 23
  2. Purification and partial amino acid sequence of proteins from human epidermal keratinocyte conditioned medium. (PMID: 11594460) Ahmed A. … Parenteau N. (J. Protein Chem. 2001) 3 4 23
  3. Association of SPINK5 gene polymorphisms with atopic dermatitis in the Japanese population. (PMID: 12752122) Kato A. … Ishii M. (Br. J. Dermatol. 2003) 3 23 48
  4. Association between polymorphisms in serine protease inhibitor, kazal type 5 and asthma phenotypes in a large German population sample. (PMID: 15005725) Kabesch M. … von Mutius E. (Clin. Exp. Allergy 2004) 3 23 48
  5. Rapid detection of the SPINK5 polymorphism Glu420Lys by real-time PCR technology. (PMID: 15820494) Rihs H.P. … BrA1ning T. (Clin. Chim. Acta 2005) 3 23 48

Products for SPINK5 Gene

Sources for SPINK5 Gene

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