Human Gene KLK8 (uc002pur.1) Description and Page Index
Description: Homo sapiens kallikrein-related peptidase 8 (KLK8), transcript variant 1, mRNA. RefSeq Summary (NM_007196): Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. This gene is one of the fifteen kallikrein subfamily members located in tandem in a gene cluster on chromosome 19. The encoded protein may be involved in proteolytic cascade in the skin and may serve as a biomarker for ovarian cancer. Alternate splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]. Transcript (Including UTRs) Position: hg19 chr19:51,499,264-51,504,965 Size: 5,702 Total Exon Count: 6 Strand: - Coding Region Position: hg19 chr19:51,499,315-51,504,423 Size: 5,109 Coding Exon Count: 5
ID:KLK8_HUMAN DESCRIPTION: RecName: Full=Kallikrein-8; Short=hK8; EC=22.214.171.124; AltName: Full=Neuropsin; Short=NP; AltName: Full=Ovasin; AltName: Full=Serine protease 19; AltName: Full=Serine protease TADG-14; AltName: Full=Tumor-associated differentially expressed gene 14 protein; Flags: Precursor; FUNCTION: Serine protease which is capable of degrading a number of proteins such as casein, fibrinogen, kininogen, fibronectin and collagen type IV. Also cleaves L1CAM in response to increased neural activity. Induces neurite outgrowth and fasciculation of cultured hippocampal neurons. Plays a role in the formation and maturation of orphan and small synaptic boutons in the Schaffer- collateral pathway, regulates Schaffer-collateral long-term potentiation in the hippocampus and is required for memory acquisition and synaptic plasticity. Involved in skin desquamation and keratinocyte proliferation. Plays a role in the secondary phase of pathogenesis following spinal cord injury. CATALYTIC ACTIVITY: Cleavage of amide substrates following the basic amino acids Arg or Lys at the P1 position, with a preference for Arg over Lys. ENZYME REGULATION: Inhibited by a range of serine protease inhibitors including antipain, aprotinin, leupeptin, benzamidine and soybean trypsin inhibitor. BIOPHYSICOCHEMICAL PROPERTIES: Kinetic parameters: KM=0.07 mM for Pro-Phe-Arg-MCA; KM=0.07 mM for Z-Val-Val-Arg-MCA; KM=0.07 mM for Boc-Val-Pro-Arg-MCA; KM=0.10 mM for Boc-Leu-Lys-Arg-MCA; KM=0.10 mM for Boc-Val-Leu-Lys-MCA; KM=0.07 mM for Boc-Phe-Ser-Arg-MCA; Vmax=7.1 umol/min/mg enzyme toward Pro-Phe-Arg-MCA; Vmax=5.4 umol/min/mg enzyme toward Z-Val-Val-Arg-MCA; Vmax=3.9 umol/min/mg enzyme toward Boc-Val-Pro-Arg-MCA; Vmax=2.6 umol/min/mg enzyme toward Boc-Leu-Lys-Arg-MCA; Vmax=1.9 umol/min/mg enzyme toward Boc-Val-Leu-Lys-MCA; Vmax=1.6 umol/min/mg enzyme toward Boc-Phe-Ser-Arg-MCA; pH dependence: Optimum pH is 8.5. Active from pH 7-10; SUBUNIT: Interacts with SPINK9. SUBCELLULAR LOCATION: Secreted. Cytoplasm. Note=Shows a cytoplasmic distribution in the keratinocytes. TISSUE SPECIFICITY: Isoform 1 is predominantly expressed in the pancreas. Isoform 2 is expressed in adult brain and hippocampus. Isoform 1 and isoform 2 are found in fetal brain and placenta. Detected in salivary gland, uterus, thymus, breast, testis and kidney but not in spleen, liver, lung or normal ovarian tissue. Displays an 11.5-fold increase in Alzheimer disease hippocampus compared to controls and is overexpressed in some ovarian carcinomas. Expressed at low levels in normal skin while high levels are found in psoriasis vulgaris, seborrheic keratosis, lichen planus and squamous cell carcinoma skin samples. Expressed in the keratinocytes. MISCELLANEOUS: Expressed at high levels in serum, ascites fluid and tumor cytosol of advanced stage ovarian cancer patients and may serve as a marker of ovarian cancer. SIMILARITY: Belongs to the peptidase S1 family. Kallikrein subfamily. SIMILARITY: Contains 1 peptidase S1 domain.
Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): KLK8 CDC HuGE Published Literature: KLK8
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on O60259
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.