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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
  • Paraneoplastic Antigen MA1 2 3
  • 37 KDa Neuronal Protein 3 4
  • MA1 3 4
  • Paraneoplastic Neuronal Antigen MA1 3

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
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH14I073711 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 562.2 +0.6 600 3.8 HDGF ATF1 ARID4B SIN3A DMAP1 ZNF48 YY1 ZNF213 ZNF143 KLF7 PNMA1 PIR61365 RBM25 ENSG00000258559 ABCD4 ELMSAN1 LOC100506476 HEATR4 GC14P073713
GH14I073715 Enhancer 0.5 ENCODE dbSUPER 550.8 -1.5 -1455 0.3 ZBTB17 PNMA1 GC14P073756 ELMSAN1
GH14I073748 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 MIR4505 GC14P073756 ZNF410 PNMA1 RBM25 LOC100506476 NUMB FCF1 PTGR2
GH14I073767 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 21.3 -57.1 -57114 7.9 HDGF PKNOX1 CLOCK FOXA2 SMAD1 MLX ARNT ZFP64 ARID4B SIN3A ENSG00000258559 YLPM1 RBM25 NT5CP1 PNMA1 PTGR2 LOC100506476 LIN52 DNAL1 ABCD4
GH14I073738 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
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PNMA1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PNMA1 gene promoter:

Genomic Locations for PNMA1 Gene

Genomic Locations for PNMA1 Gene
chr14:73,711,783-73,714,425
(GRCh38/hg38)
Size:
2,643 bases
Orientation:
Minus strand
chr14:74,178,486-74,181,128
(GRCh37/hg19)

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

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

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

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
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 IEA,IDA 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

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

No ASD Table

Relevant External Links for PNMA1 Gene

GeneLoc Exon Structure for
PNMA1
ECgene alternative splicing isoforms for
PNMA1

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, PaxDb, 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:

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

Primer Products

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 33 34
  • 99.91 (n)
dog
(Canis familiaris)
Mammalia PNMA1 33 34
  • 92.73 (n)
cow
(Bos Taurus)
Mammalia PNMA1 33 34
  • 89.33 (n)
rat
(Rattus norvegicus)
Mammalia Pnma1 33
  • 87.63 (n)
mouse
(Mus musculus)
Mammalia Pnma1 33 16 34
  • 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

ENSEMBL:
Gene Tree for PNMA1 (if available)
TreeFam:
Gene Tree for PNMA1 (if available)

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
PNMA1

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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