PNMA1: Paraneoplastic Antigen Ma1
A neuronal protein associated with paraneoplastic neurological disorders and cancer immunity
Gene Information Card
| Symbol | PNMA1 |
|---|---|
| Full Name | Paraneoplastic Antigen Ma1 |
| Gene Type | Protein coding |
| Chromosomal Location | 14q24.3 |
| NCBI Gene ID | 9240 ncbi.nlm.nih.gov/gene/9240 |
| Ensembl ID | ENSG00000100823 |
| UniProt ID | Q8ND90 |
| OMIM ID | 603049 |
| HGNC ID | 9158 |
| Aliases | MA1, PNMA, FLJ12650 |
Description
PNMA1 encodes a neuron-specific protein that is a member of the paraneoplastic Ma antigen family. It is normally expressed in the brain and testis, but aberrantly expressed in certain tumors, triggering an autoimmune response that leads to paraneoplastic neurological disorders. The protein is involved in neuronal development and synaptic function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Paraneoplastic neurological disorders (PND) | Autoantibodies against PNMA1 cross-react with tumor and neuronal tissue, causing immune-mediated neuronal damage. | ClinVar, OMIM |
| Testicular germ cell tumors | Ectopic expression of PNMA1 in tumor cells triggers anti-Ma1 antibody production. | COSMIC, NCBI |
| Breast cancer | PNMA1 overexpression reported; potential role in tumor immunity. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Testis | 8.3 | Medium |
| Lung | 1.2 | Low |
| Liver | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.0 | Neuronal model |
| NTERA-2 (testicular embryonal carcinoma) | 10.2 | Germ cell tumor line |
| MCF7 (breast cancer) | 2.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.487C>T (p.Arg163Trp) | Missense | <0.01% | Unknown; rare variant in population databases |
| c.1012G>A (p.Gly338Ser) | Missense | <0.01% | Reported in ClinVar as uncertain significance |
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)
| • nucleus (GO:0005634) | • cytoplasm (GO:0005737) |
| • protein binding (GO:0005515) | • synapse (GO:0045202) |
| • nervous system development (GO:0007399) |
Pathways
• Paraneoplastic antigen Ma family pathway
• Autoimmune response in paraneoplastic neurological disorders
Protein Summary
PNMA1 is a 40 kDa protein predominantly expressed in neurons and testis. It contains a coiled-coil domain and localizes to the nucleus and cytoplasm. In cancer, its ectopic expression triggers a humoral immune response, leading to paraneoplastic syndromes. The protein may play a role in neuronal differentiation and synaptic plasticity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PNMA1 Knockout HEK293 Cell Line | EDJ-KQ6521 | Human | 9240 | Details Get a Quote |
| PNMA1 Knockout A-549 Cell Line | EDJ-KQ30670 | Human | 9240 | Details Get a Quote |
| PNMA1 Knockout HCT 116 Cell Line | EDJ-KQ30671 | Human | 9240 | Details Get a Quote |
| PNMA1 Knockout HeLa Cell Line | EDJ-KQ30672 | Human | 9240 | Details Get a Quote |
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