PNMA1
Paraneoplastic antigen Ma1
Also known as: MA1, PNMA1_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q8ND90
- Gene
- PNMA1
- Ensembl
- ENSG00000176903
- Chromosome
- 14
- Canonical length
- 353 aa
- Protein class
- Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Cytosol
OverviewNCBI Gene
This gene encodes a neuron- and testis-specific protein that is also expressed in some paraneoplastic syndromes affecting the nervous system. Some patients with neurologic disorders develop antibodies against the protein encoded by this gene. The identification of the antineuronal antibodies in the sera of these patients has facilitated the diagnosis of paraneoplastic neurological disorders and the early detection of the associated tumors. [provided by RefSeq, Feb 2014]
Canonical amino-acid sequenceUniProt
353 residues, UniProt reviewed canonical sequence.
>Q8ND90|PNMA1
1 MAMTLLEDWC RGMDVNSQRA LLVWGIPVNC DEAEIEETLQ AAMPQVSYRM LGRMFWREEN
61 AKAALLELTG AVDYAAIPRE MPGKGGVWKV LFKPPTSDAE FLERLHLFLA REGWTVQDVA
121 RVLGFQNPTP TPGPEMPAEM LNYILDNVIQ PLVESIWYKR LTLFSGRDIP GPGEETFDPW
181 LEHTNEVLEE WQVSDVEKRR RLMESLRGPA ADVIRILKSN NPAITTAECL KALEQVFGSV
241 ESSRDAQIKF LNTYQNPGEK LSAYVIRLEP LLQKVVEKGA IDKDNVNQAR LEQVIAGANH
301 SGAIRRQLWL TGAGEGPAPN LFQLLVQIRE EEAKEEEEEA EATLLQLGLE GHFLocalizationUniProt · AlphaFold · HPA
Whether an antibody against PNMA1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.34
- Highest tissue expression
- 108 nTPM
Expression across tissuesHPA
Tissue
- cerebral cortex: 108 nTPM
- basal ganglia: 90 nTPM
- seminal vesicle: 84 nTPM
- hypothalamus: 77 nTPM
- cerebellum: 70 nTPM
- amygdala: 68 nTPM
Single-cell type
- platelets: 344 nCPM
- late primary spermatocytes: 146 nCPM
- late spermatids: 82 nCPM
- peritubular myoid cells: 75 nCPM
- early spermatids: 73 nCPM
- differentiating spermatogonia: 73 nCPM
Immune cell
- T-reg: 14 nTPM
- memory CD4 T-cell: 11 nTPM
- naive CD4 T-cell: 11 nTPM
- naive CD8 T-cell: 10 nTPM
- memory CD8 T-cell: 8.7 nTPM
- gdT-cell: 8.5 nTPM
Brain region
- hypothalamus: 180 nTPM
- cerebral cortex: 165 nTPM
- basal ganglia: 156 nTPM
- hippocampal formation: 139 nTPM
- thalamus: 134 nTPM
- white matter: 133 nTPM
ReferencesPubMed · IEDB
Publications for PNMA1 from three distinct lines of evidence, kept separate because they answer different questions: whether antibodies are directed at the protein, whether a B-cell epitope has been mapped on it, and whether a T-cell epitope has. Each is labelled with its source.
Reference: AutoantibodyPubMed
4 publications
- Clinical analysis of anti-Ma2-associated encephalitis.
2004 · Brain · RCR 13.7 · 510 citations - Molecular and clinical diversity in paraneoplastic immunity to Ma proteins.
2001 · Ann Neurol · RCR 3.7 · 152 citations - Anti-Ma and anti-Ma2-associated paraneoplastic neurological syndromes.
2018 · Neurologia (Engl Ed) · RCR 2.4 · 55 citations - Modelling paraneoplastic CNS disease: T-cells specific for the onconeuronal antigen PNMA1 mediate autoimmune encephalomyelitis in the rat.
2004 · Brain · RCR 1.3 · 58 citations
Sources: PubMed — antigen-level antibody evidence from a custom retrieval. Records matching a controlled set of autoantibody terms (the MeSH descriptors Autoantibodies and Autoantigens, with title and abstract term variants) were obtained through NCBI E-utilities, and their titles and abstracts parsed for constructions that direct an antibody at a named protein rather than for co-occurrence. Captured names were resolved against UniProt nomenclature and each antigen adjudicated individually against the source text. Bibliographic records from PubMed and MeSH, U.S. National Library of Medicine; citation metrics from NIH iCite (Hutchins et al., PLoS Biology 2016). Titles link to PubMed; abstracts are not reproduced here. The NLM does not endorse this analysis.
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.84
- gnomAD pLI
- 0.04
- gnomAD missense Z
- 0.22
- DepMap mean gene effect
- -0.13
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of PNMA1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads PNMA1 as an antibody target. Whether an autoantibody or antibody against PNMA1 could matter depends on whether native PNMA1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
PNMA1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Source-annotated serology context
The source annotations explicitly mention antibody, autoantibody, autoantigen, or autoimmune context. This is biological context, not study-specific reactivity.
- Some patients with neurologic disorders develop antibodies against the protein encoded by this gene.
- The identification of the antineuronal antibodies in the sera of these patients has facilitated the diagnosis of paraneoplastic neurological disorders and the early detection of the associated tumors.
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