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 neurologi... See more...

Aliases for PNMA1 Gene

Aliases for PNMA1 Gene

  • PNMA Family Member 1 2 3 5
  • MA1 2 3 4
  • Neuron- And Testis-Specific Protein 1 3 4
  • Paraneoplastic Ma Antigen 1 2 3
  • Paraneoplastic Antigen Ma1 3 4
  • 37 KDa Neuronal Protein 3 4
  • Paraneoplastic Neuronal Antigen MA1 3
  • Paraneoplastic Antigen MA1 2
  • PNMA1 5

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. Diseases associated with PNMA1 include Hypothalamic Disease. An important paralog of this gene is MOAP1.

Additional gene information for PNMA1 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PNMA1 Gene

Genomics for PNMA1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PNMA1 Gene
- 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 the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PNMA1

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

Genomic Locations for PNMA1 Gene

Genomic Locations for PNMA1 Gene
chr14:73,711,783-73,714,384
(GRCh38/hg38)
Size:
2,602 bases
Orientation:
Minus strand
chr14:74,178,486-74,181,128
(GRCh37/hg19)
Size:
2,643 bases
Orientation:
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:
    Q8ND90-PNMA1_HUMAN
    Recommended name:
    Paraneoplastic antigen Ma1
    Protein Accession:
    Q8ND90
    Secondary Accessions:
    • A8K4L5
    • O95144
    • Q8NG07

    Protein attributes for PNMA1 Gene

    Size:
    353 amino acids
    Molecular mass:
    39761 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • 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 Lys62, Lys218, Lys249, Lys260, and Lys283
  • 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

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for PNMA1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PNMA1 Gene

GenScript: Design optimal peptide antigens:
  • Neuron- and testis-specific protein 1 (PNMA1_HUMAN)
  • PNMA1 protein (Q6IAP2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8ND90

UniProtKB/Swiss-Prot:

PNMA1_HUMAN :
  • Belongs to the PNMA family.
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

COMPARTMENTS
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
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for PNMA1 Gene

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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PNMA1 Gene

Pathways & Interactions for PNMA1 Gene

PathCards logo

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 IEA,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 :
8 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

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
PNMA1

Expression for PNMA1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PNMA1

SOURCE GeneReport for Unigene cluster for PNMA1 Gene:

Hs.194709

mRNA Expression by UniProt/SwissProt for PNMA1 Gene:

Q8ND90-PNMA1_HUMAN
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(4.9)
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
Chimpanzee
(Pan troglodytes)
Mammalia PNMA1 30 31
  • 99.91 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia PNMA1 30 31
  • 92.73 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia PNMA1 30 31
  • 89.33 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Pnma1 30
  • 87.63 (n)
Mouse
(Mus musculus)
Mammalia Pnma1 30 17 31
  • 87.35 (n)
OneToOne
Species where no ortholog for PNMA1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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

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

Paralogs for PNMA1 Gene

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

  • PNMA1_HUMAN
  • Q6IAP2_HUMAN
genes like me logo Genes that share paralogs with PNMA1: view

Variants for PNMA1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PNMA1 Gene

SNP ID Clinical significance and condition Chr 14 pos Variation AA Info Type
rs34413931 - p.Arg215Pro
rs35129712 - p.Met54Val

Additional dbSNP identifiers (rs#s) for PNMA1 Gene

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
PNMA1

SNP Genotyping and Copy Number Assay Products

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

Disorders for PNMA1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for PNMA1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
hypothalamic disease
  • hypothalamic dysfunction
- elite association - COSMIC cancer census association via MalaCards
Search PNMA1 in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with PNMA1: view

No data available for 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
  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
  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
  4. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  5. Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations. (PMID: 31515488) Fragoza R … Yu H (Nature communications 2019) 3

Products for PNMA1 Gene

  • Signalway Proteins for PNMA1

Sources for PNMA1 Gene