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PNMA1 Gene

protein-coding   GIFtS: 51
GCID: GC14M074178

Paraneoplastic Ma Antigen 1

(Previous name: paraneoplastic antigen MA1)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Paraneoplastic Ma Antigen 11 2
MA12 3 5
Paraneoplastic Antigen MA11 2
Neuron- And Testis-Specific Protein 12 3
37 KDa Neuronal Protein2 3
Paraneoplastic Neuronal Antigen MA12

External Ids:    HGNC: 91581   Entrez Gene: 92402   Ensembl: ENSG000001769037   OMIM: 6040105   UniProtKB: Q8ND903   

Export aliases for PNMA1 gene to outside databases

Previous GC identifers: GC14M071683 GC14M067974 GC14M072168 GC14M072139 GC14M073248 GC14M054345


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 (paraneoplastic Ma antigen 1) is a protein-coding gene. An important paralog of this gene is PNMA6A.




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000014.8  NC_018925.2  NT_026437.13  
Regulatory elements:
   Regulatory transcription factor binding sites in the PNMA1 gene promoter:
         E2F-3a   E2F-4   E2F-5   Brachyury   HSF1 (long)   E2F-2   E2F-1   E2F   HSF1short   ATF   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPNMA1 promoter sequence
   Search Chromatin IP Primers for PNMA1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PNMA1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 14q24.3   Ensembl cytogenetic band:  14q24.3   HGNC cytogenetic band: 14q24.3

PNMA1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PNMA1 gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14M074178:  view genomic region     (about GC identifiers)

Start:
74,178,486 bp from pter      End:
74,181,128 bp from pter
Size:
2,643 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: PNMA1_HUMAN, Q8ND90 (See protein sequence)
Recommended Name: Paraneoplastic antigen Ma1  
Size: 353 amino acids; 39761 Da
Miscellaneous: Antibodies against PNMA1 are present in sera from patients suffering of paraneoplastic neurological
disorders
Secondary accessions: A8K4L5 O95144 Q8NG07

Explore the universe of human proteins at neXtProt for PNMA1: NX_Q8ND90

Explore proteomics data for PNMA1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys62, Lys218, Lys249, Lys260, Lys283
  • Modification sites at PhosphoSitePlus

  • See PNMA1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_006020.4  
    ENSEMBL proteins: 
     ENSP00000318914  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    PNMA: Paraneoplastic Ma antigens

    2 InterPro protein domains:
     IPR026523 PNMA
     IPR026528 PNMA1/MOAP1

    Graphical View of Domain Structure for InterPro Entry Q8ND90

    ProtoNet protein and cluster: Q8ND90

    UniProtKB/Swiss-Prot: PNMA1_HUMAN, Q8ND90
    Similarity: Belongs to the PNMA family


    Find genes that share domains with PNMA1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI14676191
         
    Find genes that share ontologies with PNMA1           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for PNMA1:
     Increased gamma-H2AX phosphory 

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for PNMA1

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    SwitchGear 3'UTR luciferase reporter plasmidPNMA1 3' UTR sequence
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    PNMA1_HUMAN, Q8ND90: Nucleus, nucleolus. Note=In tumor cells, it is cytoplasmic
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol3
    cytoskeleton1
    extracellular1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005730nucleolus IDA10050892
    GO:0005737cytoplasm IDA--
    GO:0005925focal adhesion IDA--

    Find genes that share ontologies with PNMA1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for PNMA1
    Interactions:

        Search GeneGlobe Interaction Network for PNMA1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for PNMA1 (Q8ND901, 2, 3 ENSP000003189144) via UniProtKB, MINT, STRING, and/or I2D (see all 54)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    LENG1Q96BZ82, 3, ENSP000002222244MINT-65001 I2D: score=4 STRING: ENSP00000222224
    MARK4Q96L341, 3, ENSP000003008434EBI-302345,EBI-302319 I2D: score=4 STRING: ENSP00000300843
    MSI1O433472, 3, ENSP000002575524MINT-64999 I2D: score=4 STRING: ENSP00000257552
    PARD3Q8TEW01, 3, ENSP000003639214EBI-302345,EBI-81968 I2D: score=4 STRING: ENSP00000363921
    TNNT1P138052, 3, ENSP000002919014MINT-65000 I2D: score=4 STRING: ENSP00000291901
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002437inflammatory response to antigenic stimulus ISS15201193
    GO:0006915apoptotic process ----
    GO:0007283spermatogenesis ----
    GO:0007417central nervous system development ----
    GO:0043065positive regulation of apoptotic process ISS--

    Find genes that share ontologies with PNMA1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for PNMA1



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for PNMA1 gene: 
    NM_006029.4  

    Unigene Cluster for PNMA1:

    Paraneoplastic Ma antigen 1
    Hs.194709  [show with all ESTs]
    Unigene Representative Sequence: NM_006029
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000316836(uc001xor.1)
    miRNA
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    hsa-miR-203 hsa-miR-23b hsa-miR-130a* hsa-miR-23a hsa-miR-23c
    SwitchGear 3'UTR luciferase reporter plasmidPNMA1 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

    AF320308.1 AK290980.1 AL834327.1 BC039577.1 CR457112.1 

    8 DOTS entries:

    DT.100782775  DT.120745914  DT.100782772  DT.91770571  DT.100782770  DT.217399  DT.95071553  DT.97849392 

    Selected AceView cDNA sequences (see all 257):

    BF590650 BU683934 CD107293 AA759312 AA316152 BU520996 BE465273 AI359836 
    BM712018 BG059695 BU634381 BM262995 BC014926 AI961254 CA430481 BM142572 
    BM728866 AI283684 AI915289 F02179 AI127689 Z45472 BU786391 AI361465 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    PNMA1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAGAGGTTGA
    PNMA1 Expression
    About this image


    PNMA1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Blood (Hematopoietic System)
             Proerythroblasts Hematopoietic Bone Marrow
    PNMA1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PNMA1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.194709

    UniProtKB/Swiss-Prot: PNMA1_HUMAN, Q8ND90
    Tissue specificity: Testis and brain specific. In some patients suffering from cancers, it is also specifically
    expressed by the paraneoplastic tumor cells

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of human and mouse.

    Orthologs for PNMA1 gene from Selected species (see all 5)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pnma11 , 5 paraneoplastic antigen MA11, 5 87.35(n)1
    92.07(a)1
      12 (39.07 cM)5
    704811  NM_027438.31  NP_081714.21 
     841461315 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PNMA1 gene
    PNMA6A2  PNMA52  PNMA6D2  PNMA22  PNMAL22  PNMA6C2  MOAP12  PNMA32  
    ZCCHC122  ZCCHC182  PNMAL12  PNMA6B2  
    11 SIMAP similar genes for PNMA1 using alignment to 2 protein entries:     PNMA1_HUMAN (see all proteins):
    PNMA5    MOAP1    PNMA2    PNMAL1    PNMA3    PNMA6A
    PNMA6B    PNMA6C    PNMA6D    ZCCHC12    ZCCHC18

    Find genes that share paralogs with PNMA1           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for PNMA1 (see all 82)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1116283241,2
    C,F--74178211(+) GAGCCG/AAGATC 1 -- ds50011Minor allele frequency- A:0.50WA 2
    rs1890955251,2
    --74178280(+) AAAAAA/TTTTAA 1 -- ds50010--------
    rs1930003411,2
    --74178348(+) AGGACC/TTGCCA 1 -- ds50010--------
    rs1848558761,2
    --74178551(+) CAAGAA/CCTATT 1 -- ut310--------
    rs1480399051,2
    C--74178569(+) AAAGAC/TGTGAA 1 -- ut310--------
    rs1896946781,2
    --74178654(+) AAACTC/GGTTTA 1 -- ut310--------
    rs1431439451,2
    C--74178658(+) GGTTT-/ACAC  
            
    ACACA
    1 -- ut310--------
    rs89491,2
    C,F,O,H--74178729(+) AAACTG/TGTCGA 1 -- ut3121Minor allele frequency- T:0.13MN NS EA NA WA 2714
    rs1146386471,2
    C,F--74178737(+) CGACAT/CGTTTA 1 -- ut311Minor allele frequency- C:0.05WA 118
    rs1436578351,2
    C--74178752(+) TGAGAA/TATAAG 1 -- ut310--------

    HapMap Linkage Disequilibrium report for PNMA1 (74178486 - 74181128 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for PNMA1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv902093CNV Loss21882294
    dgv1959n71CNV Loss21882294
    nsv902091CNV Gain21882294

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 604010    OMIM disorders: --

    1 disease from the University of Copenhagen DISEASES database for PNMA1:
    Encephalitis

    Find genes that share disorders with PNMA1           About GenesLikeMe


    Export disorders for PNMA1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for PNMA1 gene, integrated from 10 sources (see all 25):
    (articles sorted by number of sources associating them with PNMA1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Ma1, a novel neuron- and testis-specific protein, is recognized by the serum of patients with paraneoplastic neurological disorders. (PubMed id 10050892)1, 2, 3 Dalmau J.... Rosenfeld M.R. (Brain 1999)
    2. The human PNMA family: novel neuronal proteins implicated in paraneoplastic neurological disease. (PubMed id 16214224)1, 2 Schueller M.... Voltz R. (J. Neuroimmunol. 2005)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    4. Proteome-wide identification of ubiquitylation sites by conjugation of engineered lysine-less ubiquitin. (PubMed id 22053931)1 Oshikawa K....Nakayama K.I. (J. Proteome Res. 2012)
    5. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)1 Povlsen L.K....Choudhary C. (Nat. Cell Biol. 2012)
    6. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)
    7. Comparison of an expanded ataxia interactome with patient medical records reveals a relationship between macular degeneration and ataxia. (PubMed id 21078624)1 Kahle J.J....Zoghbi H.Y. (Hum. Mol. Genet. 2011)
    8. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)
    9. Ubiquitin ligase substrate identification through quantitative proteomics at both the protein and peptide levels. (PubMed id 21987572)1 Lee K.A....Doedens J.R. (J. Biol. Chem. 2011)
    10. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (amp 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 9240 HGNC: 9158 AceView: PNMA1 Ensembl:ENSG00000176903 euGenes: HUgn9240
    ECgene: PNMA1 H-InvDB: PNMA1

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for PNMA1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for PNMA1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for PNMA1 gene:
    Search GeneIP for patents involving PNMA1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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