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Aliases for PNMA1 Gene

Aliases for PNMA1 Gene

  • PNMA Family Member 1 2 3 5
  • Neuron- And Testis-Specific Protein 1 3 4
  • Paraneoplastic Ma Antigen 1 2 3
  • 37 KDa Neuronal Protein 3 4
  • MA1 3 4
  • Paraneoplastic Neuronal Antigen MA1 3
  • Paraneoplastic Antigen Ma1 3
  • Paraneoplastic Antigen MA1 2

External Ids for PNMA1 Gene

Previous GeneCards Identifiers for PNMA1 Gene

  • GC14M071683
  • GC14M067974
  • GC14M072168
  • GC14M072139
  • GC14M073248
  • GC14M074178
  • GC14M054345

Summaries for PNMA1 Gene

Entrez Gene Summary for PNMA1 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]

GeneCards Summary for PNMA1 Gene

PNMA1 (PNMA Family Member 1) is a Protein Coding gene. An important paralog of this gene is MOAP1.

Additional gene information for PNMA1 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PNMA1 Gene

Genomics for PNMA1 Gene

GeneHancer (GH) Regulatory Elements for PNMA1 Gene

Promoters and enhancers for PNMA1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH14J073711 Promoter/Enhancer 1.7 Ensembl ENCODE dbSUPER 662.2 +0.6 600 3.8 HDGF ARID4B SIN3A DMAP1 YY1 ZNF213 ZNF143 SP3 ZHX2 MXD4 PNMA1 PIR61365 RBM25 ENSG00000258559 HEATR4 ABCD4 SUB1P2 RPS2P2 ELMSAN1 LOC100506476
GH14J073715 Enhancer 0.5 ENCODE dbSUPER 650.7 -1.5 -1455 0.3 ZBTB17 PNMA1 GC14P073756 ELMSAN1
GH14J073748 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 24.2 -43.2 -43201 17.4 CLOCK MLX FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 ZNF143 SP3 ELMSAN1 GC14P073756 MIR4505 ZNF410 RBM25 PNMA1 ENSG00000258559 LOC100506476 ABCD4 ENSG00000258891
GH14J073738 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 20.8 -28.8 -28845 9.8 PKNOX1 CLOCK FOXA2 ARNT ZNF133 ARID4B SIN3A ZBTB7B SLC30A9 TCF12 PNMA1 LOC100506476 PTGR2 ENSG00000223300 ELMSAN1 ACOT1 ZNF410 GC14P073756
GH14J073135 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 16.6 +577.4 577396 2.4 HDGF PKNOX1 ATF1 ZFP64 ARID4B SIN3A DMAP1 BRCA1 ZNF48 ETS1 PSEN1 RBM25 ELMSAN1 LOC101928123 PNMA1 DNAL1 LIN52 ZNF410 PAPLN ZFYVE1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PNMA1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PNMA1 gene promoter:
  • E2F-5
  • E2F-4
  • E2F-3a
  • E2F-2
  • E2F-1
  • E2F
  • ATF
  • HSF1 (long)
  • HSF1short
  • Brachyury

Genomic Locations for PNMA1 Gene

Genomic Locations for PNMA1 Gene
2,643 bases
Minus strand
2,643 bases
Minus strand

Genomic View for PNMA1 Gene

Genes around PNMA1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PNMA1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PNMA1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PNMA1 Gene

Proteins for PNMA1 Gene

  • Protein details for PNMA1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Paraneoplastic antigen Ma1
    Protein Accession:
    Secondary Accessions:
    • A8K4L5
    • O95144
    • Q8NG07

    Protein attributes for PNMA1 Gene

    353 amino acids
    Molecular mass:
    39761 Da
    Quaternary structure:
    No Data Available
    • Antibodies against PNMA1 are present in sera from patients suffering of paraneoplastic neurological disorders.

neXtProt entry for PNMA1 Gene

Post-translational modifications for PNMA1 Gene

  • Ubiquitination at Lys283, Lys260, Lys249, Lys218, and posLast=6262
  • Modification sites at PhosphoSitePlus

Other Protein References for PNMA1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PNMA1 Gene

Domains & Families for PNMA1 Gene

Gene Families for PNMA1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for PNMA1 Gene


Suggested Antigen Peptide Sequences for PNMA1 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the PNMA family.
  • Belongs to the PNMA family.
genes like me logo Genes that share domains with PNMA1: view

Function for PNMA1 Gene

Phenotypes From GWAS Catalog for PNMA1 Gene

Gene Ontology (GO) - Molecular Function for PNMA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 14676191
genes like me logo Genes that share ontologies with PNMA1: view
genes like me logo Genes that share phenotypes with PNMA1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PNMA1

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PNMA1 Gene

Localization for PNMA1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PNMA1 Gene

Nucleus, nucleolus. Note=In tumor cells, it is cytoplasmic.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PNMA1 gene
Compartment Confidence
nucleus 5
cytosol 3
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Focal adhesion sites (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PNMA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005730 nucleolus IDA,IEA 10050892
GO:0005737 cytoplasm IDA 10050892
genes like me logo Genes that share ontologies with PNMA1: view

Pathways & Interactions for PNMA1 Gene

SuperPathways for PNMA1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for PNMA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002437 inflammatory response to antigenic stimulus ISS 15201193
GO:0043065 positive regulation of apoptotic process ISS --
genes like me logo Genes that share ontologies with PNMA1: view

No data available for Pathways by source and SIGNOR curated interactions for PNMA1 Gene

Drugs & Compounds for PNMA1 Gene

No Compound Related Data Available

Transcripts for PNMA1 Gene

mRNA/cDNA for PNMA1 Gene

(1) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(257) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for PNMA1 Gene

Paraneoplastic Ma antigen 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PNMA1

Alternative Splicing Database (ASD) splice patterns (SP) for PNMA1 Gene

No ASD Table

Relevant External Links for PNMA1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for PNMA1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PNMA1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PNMA1 Gene

This gene is overexpressed in Breast (25.4) and Bone (22.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PNMA1 Gene

Protein tissue co-expression partners for PNMA1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PNMA1 Gene:


SOURCE GeneReport for Unigene cluster for PNMA1 Gene:


mRNA Expression by UniProt/SwissProt for PNMA1 Gene:

Tissue specificity: Testis- and brain-specific. In some cancer patients, specifically expressed by paraneoplastic tumor cells.

Evidence on tissue expression from TISSUES for PNMA1 Gene

  • Nervous system(4.8)
genes like me logo Genes that share expression patterns with PNMA1: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for PNMA1 Gene

Orthologs for PNMA1 Gene

This gene was present in the common ancestor of mammals.

Orthologs for PNMA1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia PNMA1 34 33
  • 99.91 (n)
(Canis familiaris)
Mammalia PNMA1 34 33
  • 92.73 (n)
(Bos Taurus)
Mammalia PNMA1 34 33
  • 89.33 (n)
(Rattus norvegicus)
Mammalia Pnma1 33
  • 87.63 (n)
(Mus musculus)
Mammalia Pnma1 16 34 33
  • 87.35 (n)
Species where no ortholog for PNMA1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for PNMA1 Gene

Gene Tree for PNMA1 (if available)
Gene Tree for PNMA1 (if available)
Evolutionary constrained regions (ECRs) for PNMA1: view image

Paralogs for PNMA1 Gene

(11) SIMAP similar genes for PNMA1 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with PNMA1: view

Variants for PNMA1 Gene

Sequence variations from dbSNP and Humsavar for PNMA1 Gene

SNP ID Clin Chr 14 pos Variation AA Info Type
rs1000047721 -- 73,712,248(-) T/C 3_prime_UTR_variant
rs1000397338 -- 73,711,969(-) A/G 3_prime_UTR_variant
rs1000462824 -- 73,716,361(-) G/A upstream_transcript_variant
rs1001259102 -- 73,714,046(-) G/A 5_prime_UTR_variant
rs1001391259 -- 73,712,383(-) G/A 3_prime_UTR_variant

Structural Variations from Database of Genomic Variants (DGV) for PNMA1 Gene

Variant ID Type Subtype PubMed ID
nsv1035460 CNV gain 25217958
nsv1053281 CNV gain 25217958

Variation tolerance for PNMA1 Gene

Residual Variation Intolerance Score: 21% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.25; 40.47% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PNMA1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PNMA1 Gene

Disorders for PNMA1 Gene

Additional Disease Information for PNMA1

No disorders were found for PNMA1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PNMA1 Gene

Publications for PNMA1 Gene

  1. Ma1, a novel neuron- and testis-specific protein, is recognized by the serum of patients with paraneoplastic neurological disorders. (PMID: 10050892) Dalmau J … Rosenfeld MR (Brain : a journal of neurology 1999) 2 3 4 58
  2. The human PNMA family: novel neuronal proteins implicated in paraneoplastic neurological disease. (PMID: 16214224) Schüller M … Voltz R (Journal of neuroimmunology 2005) 3 4 58
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  5. Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing. (PMID: 26871637) Yang X … Vidal M (Cell 2016) 3 58

Products for PNMA1 Gene

Sources for PNMA1 Gene

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