KAZALD1
Kazal-type serine protease inhibitor domain containing 1
Gene Information Card
| Symbol | KAZALD1 |
|---|---|
| Full Name | Kazal-type serine protease inhibitor domain containing 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 10q24.31 |
| NCBI Gene ID | 81621 ncbi.nlm.nih.gov/gene/81621 |
| Ensembl ID | ENSG00000138162 |
| UniProt ID | Q96I82 |
| OMIM ID | 610608 |
| HGNC ID | 23270 |
| Aliases | bA534M17.1, FLJ12650, MGC138499 |
Description
KAZALD1 encodes a protein containing a Kazal-type serine protease inhibitor domain. It is involved in the regulation of proteolytic cascades and may play a role in extracellular matrix remodeling. The gene is expressed in various tissues and has been implicated in cancer and developmental processes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | Dysregulation of KAZALD1 expression may alter protease inhibition, affecting tumor invasion and metastasis. | Expression profiling studies; limited direct evidence. |
| Osteoarthritis | Potential involvement in cartilage extracellular matrix homeostasis via protease inhibition. | Gene expression studies in cartilage tissue. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Thyroid | 8.2 | Low |
| Adipose tissue | 6.1 | Low |
| Lung | 4.3 | Low |
| Brain | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.0 | Moderate expression |
| HeLa | 9.8 | Low expression |
| A549 | 7.5 | Low expression |
| MCF7 | 3.2 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.347G>A (p.Arg116His) | Missense | <0.01% | Unknown; likely benign |
| c.521C>T (p.Pro174Leu) | Missense | <0.01% | Unknown; predicted possibly damaging |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • serine-type endopeptidase inhibitor activity | • extracellular region |
| • negative regulation of proteolysis |
Pathways
• KEGG: Proteoglycans in cancer (hsa05205)
• Reactome: Extracellular matrix organization (R-HSA-1474244)
Protein Summary
KAZALD1 is a secreted protein containing a single Kazal-type serine protease inhibitor domain. It likely functions as a protease inhibitor, modulating extracellular proteolysis and matrix remodeling. The protein is expressed in several tissues, with highest levels in testis and thyroid. Its precise biological roles remain under investigation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KAZALD1 Knockout HEK293 Cell Line | EDJ-KQ2956 | Human | 81621 | Details Get a Quote |
| KAZALD1 Knockout A-549 Cell Line | EDJ-KQ24095 | Human | 81621 | Details Get a Quote |
| KAZALD1 Knockout HCT 116 Cell Line | EDJ-KQ24096 | Human | 81621 | Details Get a Quote |
| KAZALD1 Knockout HeLa Cell Line | EDJ-KQ24097 | Human | 81621 | Details Get a Quote |
