PDZK1IP1 Gene
PDZK1 Interacting Protein 1
Gene Information Card
| Symbol | PDZK1IP1 |
|---|---|
| Full Name | PDZK1 Interacting Protein 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 1p36.11 |
| NCBI Gene ID | 10158 ncbi.nlm.nih.gov/gene/10158 |
| Ensembl ID | ENSG00000162367 |
| UniProt ID | Q5T2W1 |
| OMIM ID | 617535 |
| HGNC ID | 16887 |
| Aliases | MAP17, DD96, SPAP1 |
Description
PDZK1IP1 (PDZK1 Interacting Protein 1) is a protein-coding gene located on chromosome 1p36.11. It encodes a small membrane-associated protein (MAP17) that interacts with PDZK1 and other scaffold proteins, playing roles in ion transport, cell proliferation, and tumorigenesis. The gene is widely expressed in epithelial tissues and is upregulated in various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Renal Cell Carcinoma | Overexpression of PDZK1IP1 promotes tumor growth and metastasis through PDZK1-mediated signaling | PMID: 23431173 |
| Breast Cancer | PDZK1IP1 expression correlates with poor prognosis and may enhance cell proliferation | PMID: 25605248 |
| Colorectal Cancer | Upregulation of PDZK1IP1 associated with advanced tumor stage and metastasis | PMID: 27058445 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | Medium |
| Liver | 8.3 | Medium |
| Lung | 6.1 | Low |
| Breast | 4.7 | Low |
| Colon | 3.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression |
| HepG2 | 9.8 | Medium expression |
| MCF7 | 7.1 | Medium expression |
| A549 | 5.4 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | missense | <0.01% | Unknown |
| c.100C>T | missense | <0.01% | Unknown |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported.
Gain of Function (GOF)
Overexpression in cancers suggests potential gain-of-function role.
Dominant Negative (DN)
Not described.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • plasma membrane (GO:0005886) |
| • integral component of membrane (GO:0016021) | • response to drug (GO:0042493) |
Pathways
• PDZK1-mediated ion transport
• MAPK signaling (via PDZK1 interaction)
Protein Summary
PDZK1IP1 encodes a 114-amino acid membrane-associated protein (MAP17) that localizes to the plasma membrane and interacts with PDZK1 and other PDZ domain-containing proteins. It is involved in regulating ion transport and cell proliferation. Overexpression in multiple cancers suggests a role in tumor progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PDZK1IP1 Knockout HEK293 Cell Line | EDJ-KQ6928 | Human | 10158 | Details Get a Quote |
| PDZK1IP1 Knockout A-549 Cell Line | EDJ-KQ31574 | Human | 10158 | Details Get a Quote |
| PDZK1IP1 Knockout HeLa Cell Line | EDJ-KQ55330 | Human | 10158 | Details Get a Quote |
| PDZK1IP1 Knockout HCT 116 Cell Line | EDJ-KQ72273 | Human | 10158 | Details Get a Quote |
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