MPZL3: Myelin Protein Zero Like 3
A transmembrane glycoprotein involved in cell adhesion and signaling, with emerging roles in skin biology and cancer.
Gene Information Card
| Symbol | MPZL3 |
|---|---|
| Full Name | myelin protein zero like 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 11q23.3 |
| NCBI Gene ID | 196264 ncbi.nlm.nih.gov/gene/196264 |
| Ensembl ID | ENSG00000175197 |
| UniProt ID | Q6UWB1 |
| OMIM ID | 611006 |
| HGNC ID | 26255 |
| Aliases | PZR, PZR3, FLJ22662 |
Description
MPZL3 (myelin protein zero like 3) encodes a transmembrane glycoprotein belonging to the immunoglobulin superfamily. The protein contains a single V-type immunoglobulin-like domain and is involved in cell adhesion, migration, and signal transduction. MPZL3 is expressed in multiple tissues, notably in skin, and has been implicated in hair follicle development, epidermal differentiation, and cancer progression. Alternative splicing generates multiple transcript variants.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Skin disorders (e.g., alopecia, dermatitis) | MPZL3 regulates keratinocyte proliferation and differentiation; loss of function disrupts hair follicle cycling and epidermal barrier. | Mouse models (knockout) show alopecia and skin inflammation; human expression studies link MPZL3 to psoriasis. |
| Cancer (e.g., melanoma, breast cancer) | MPZL3 modulates cell adhesion and migration; altered expression may promote invasion and metastasis. | COSMIC database reports somatic mutations in various cancers; expression changes observed in tumor vs. normal tissue. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 15.2 | Medium |
| Esophagus | 10.8 | Medium |
| Lung | 8.5 | Low |
| Breast | 7.3 | Low |
| Kidney | 6.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HaCaT (keratinocyte) | 18.4 | High expression in skin-derived cells |
| A549 (lung carcinoma) | 9.2 | Moderate expression |
| MCF7 (breast cancer) | 6.8 | Low expression |
| HEK293 (embryonic kidney) | 5.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.346G>A (p.Gly116Arg) | Missense | 0.02% (gnomAD) | Unknown; predicted possibly damaging |
| c.487C>T (p.Arg163Trp) | Missense | 0.01% (gnomAD) | Unknown; predicted benign |
| c.601_602insA (p.Thr201AsnfsTer5) | Frameshift | Rare | Loss of function; truncation |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that truncate the protein or disrupt the transmembrane domain are predicted to cause loss of function.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in MPZL3.
Dominant Negative (DN)
No evidence for dominant-negative effects; most mutations are recessive or of unknown significance.
View complete mutation data：
Gene Ontology (GO)
| • cell adhesion (GO:0007155) | • plasma membrane (GO:0005886) |
| • integral component of membrane (GO:0016021) | • protein binding (GO:0005515) |
| • negative regulation of apoptotic process (GO:0043066) |
Pathways
• Cell adhesion molecules (CAMs)
• Signaling by Receptor Tyrosine Kinases (via interaction with SHP-2)
Protein Summary
MPZL3 is a single-pass type I transmembrane protein of 242 amino acids. It contains an N-terminal signal peptide, an extracellular immunoglobulin-like V-type domain, a transmembrane region, and a cytoplasmic tail with immunoreceptor tyrosine-based inhibitory motif (ITIM)-like sequences. The protein localizes to the plasma membrane and mediates homophilic and heterophilic cell adhesion. Through its cytoplasmic domain, MPZL3 recruits phosphatases such as SHP-2, modulating downstream signaling pathways involved in cell growth, differentiation, and migration.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MPZL3 Knockout HEK293 Cell Line | EDJ-KQ14294 | Human | 196264 | Details Get a Quote |
| MPZL3 Knockout A-549 Cell Line | EDJ-KQ44352 | Human | 196264 | Details Get a Quote |
| MPZL3 Knockout HCT 116 Cell Line | EDJ-KQ44353 | Human | 196264 | Details Get a Quote |
| MPZL3 Knockout HeLa Cell Line | EDJ-KQ44354 | Human | 196264 | Details Get a Quote |
