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GENE AND PROTEIN SUMMARY

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Gene name

PNMA1

Description

paraneoplastic Ma antigen 1

Protein class

Mapped to UniProt SWISS-PROT

Protein evidence

High

Entrez gene summary

The PNMA1 gene encodes an antineuronal antibody (anti-Ma) present in patients with paraneoplastic neurologic disorders (Dalmau et al., 1999 [PubMed 10050892]). Some paraneoplastic syndromes affecting the nervous system are associated with antibodies that react with neuronal proteins and the causal tumor (onconeuronal antigens) (summarized by Dalmau et al., 1999 [PubMed 10050892]). Several of these antibodies are markers of specific neurologic syndromes associated with distinct types of cancer. The presence of some antibodies is so specific that disorders previously identified by brain biopsy or at autopsy can be diagnosed serologically. The expression of neuronal proteins by the tumor appears to be a crucial step that breaks the immune tolerance for otherwise normal neuronal proteins. The identity of most onconeuronal antigens was established by probing human cDNA expression libraries with serum containing antineuronal antibodies.[supplied by OMIM, May 2010]

External links

Ensembl, UniProt, Entrez gene, neXtProt, Antibodypedia

No of splice variants

1 in total
0 with predicted TM region
0 with predicted signal peptide

SUBCELLULAR LOCATION SUMMARY

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Main location(s)

Cytoplasm

Additional location(s)

Focal Adhesions 

Staining summary

Mainly localized to cytoplasm but also focal adhesions.

Reliability (APE)

Medium

Antibodies in assay

HPA003817, HPA015007
 

NORMAL TISSUE & ORGAN SUMMARY

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Expression summary

Cytoplasmic and nuclear expression in selected cell types, most abundant in neurons.

Tissue specificity

Expressed in 10 out of 83 cell types

Reliability (APE)

High

Antibodies in assay

HPA003817, HPA015007
 

Organ

No of cell types

Protein expression

CNS (brain) 11
Hematopoietic (blood) 8
Liver and pancreas 5
Digestive (GI-tract) 13
Respiratory (lung) 4
Cardiovascular 1
Female tissues 13
Placenta 2
Male tissues 5
Urinary tract (kidney) 3
Skin and soft tissues 15
Endocrine tissues 3

Level of annotated protein expression





High
Medium
Low
None

CANCER TISSUE SUMMARY

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Staining summary

Antibody staining in 21% of the cancers

Antibodies in assay

HPA003817, HPA015007
 

Tissue

Cancer staining

Protein
expression of
normal tissue

Breast cancer
 
Carcinoid
 
Cervical cancer
 
 
Colorectal cancer
 
 
Endometrial cancer
 
 
Glioma
 
Head and neck cancer
 
 
Liver cancer
 
 
Lung cancer
 
 
Lymphoma
 
 
 

Tissue

Cancer staining

Protein
expression of
normal tissue

Melanoma
 
Ovarian cancer
 
Pancreatic cancer
 
Prostate cancer
 
Renal cancer
 
Skin cancer
 
Stomach cancer
 
 
Testis cancer
 
Thyroid cancer
 
Urothelial cancer
 

Level of antibody staining





Strong
Moderate
Weak
Negative

CELL LINE SUMMARY

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RNA evidence

High
 

Cell line

Cell origin

RNA abundance

IH staining

IF intensity

HPA003817

HPA015007

HPA003817

HPA015007

A-431 Skin High
WeakNegative
A-549 Lung High
CACO-2 Colon High
HEK 293 Embryonal kidney High
HeLa Cervix Medium
Hep-G2 Liver Medium
MCF-7 Pleural effusion High
PC-3 Bone marrow High
RT-4 Urinary bladder Low
U-2 OS Bone High
NegativeWeak
U-251 MG Brain High
WeakWeak

ANTIBODY SUMMARY

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Antibody

Clonality

Validation

HPA003817 pAb
HPA015007 pAb