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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

PNMA1 Gene

protein-coding   GIFtS: 51
GCID: GC14M074178

Paraneoplastic Ma Antigen 1

(Previous name: paraneoplastic antigen MA1)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Paraneoplastic Ma Antigen 11 2
Paraneoplastic Antigen MA11 2
Neuron- And Testis-Specific Protein 12 3
37 KDa Neuronal Protein2 3
MA12 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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for PNMA1 Gene:
The PNMA1 gene encodes an antineuronal antibody (anti-Ma) present in patients with paraneoplastic neurologic
disorders (Dalmau et al., 1999 (PubMed 10050892)). Some paraneoplastic syndromes affecting the nervous system are
associated with antibodies that react with neuronal proteins and the causal tumor (onconeuronal antigens)
(summarized by Dalmau et al., 1999 (PubMed 10050892)). Several of these antibodies are markers of specific
neurologic syndromes associated with distinct types of cancer. The presence of some antibodies is so specific
that disorders previously identified by brain biopsy or at autopsy can be diagnosed serologically. The expression
of neuronal proteins by the tumor appears to be a crucial step that breaks the immune tolerance for otherwise
normal neuronal proteins. The identity of most onconeuronal antigens was established by probing human cDNA
expression libraries with serum containing antineuronal antibodies.(supplied by OMIM, May 2010)

GeneCards Summary for PNMA1 Gene: 
PNMA1 (paraneoplastic Ma antigen 1) is a protein-coding gene. Diseases associated with PNMA1 include paraneoplastic neurologic disorders, and neuronitis. GO annotations related to this gene include protein binding. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000014.8  NC_018925.2  NT_026437.12  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for PNMA1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: PNMA1_HUMAN, Q8ND90 (See protein sequence)
Recommended Name: Paraneoplastic antigen Ma1  
Size: 353 amino acids; 39761 Da
Subcellular location: Nucleus, nucleolus. Note=In tumor cells, it is cytoplasmic
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8ND90

  • PNMA1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    PNMA1 Protein Expression
    REFSEQ proteins: NP_006020.4  
    ENSEMBL proteins: 
     ENSP00000318914  

    Human Recombinant Protein Products for PNMA1: 
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    Cloud-Clone Corp. Proteins for PNMA1 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

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

    PNMA1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    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


    PNMA1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI14676191
         
    PNMA1 for ontologies           About GeneDecksing


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

    Animal Models:
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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section




    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for PNMA1

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

    5/42 Interacting proteins for PNMA1 (Q8ND901, 2, 3 ENSP000003189144) via UniProtKB, MINT, STRING, and/or I2D (see all 42)
    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): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002437inflammatory response to antigenic stimulus ISS15201193
    GO:0006915apoptotic process NAS16214224
    GO:0007283spermatogenesis NAS10050892
    GO:0007417central nervous system development NAS10050892

    PNMA1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for PNMA1

    Search CenterWatch for drugs/clinical trials and news about 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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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 

    24/257 AceView cDNA sequences (see all 257):

    AI283684 BM789715 BU520996 BU786391 BM712018 BE465273 AW131570 BU838417 
    AW167938 AI359836 AI961254 AI361465 BU634381 BG059695 CA430481 CD107293 
    F02179 AA759312 AA927022 C02540 BU729355 AA972111 BM052860 Z45472 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    PNMA1 expression in normal human tissues (normalized intensities)      PNMA1 embryonic expression: see
    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 
     5/4 selected tissues (see all 4) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Testis (Reproductive System)    fully expand to see all 2 entries
             Leydig Cells Testis Interstitium
             testis ; cells in seminiferus ducts   
     
     Blood (Hematopoietic System)
             Proerythroblasts Hematopoietic Bone Marrow
     
     Spleen (Hematopoietic System)
             spleen ; cells in red pulp   

    See PNMA1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PNMA1

    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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    (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)
    About This Section

    This gene was present in the common ancestor of human and mouse.

    Orthologs for PNMA1 gene from 1/5 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)
    About This Section
    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

    PNMA1 for paralogs           About GeneDecksing



    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/82 SNPs in PNMA1 are shown (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

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 604010    OMIM disorders: --

    10 diseases for PNMA1:    About MalaCards
    paraneoplastic neurologic disorders    neuronitis    paraneoplastic syndromes    neurologic diseases
    encephalomyelitis    encephalitis    macular degeneration    pancreatic cancer
    ataxia    pancreatitis

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

    PNMA1 for disorders           About GeneDecksing


    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)
    About This Section

    PubMed articles for PNMA1 gene, integrated from 9 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. (1999)
    2. The human PNMA family: novel neuronal proteins implicated in paraneoplastic neurological disease. (PubMed id 16214224)1, 2 Schueller M.... Voltz R. (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. (2004)
    4. Proteome-wide identification of ubiquitylation sites b y conjugation of engineered lysine-less ubiquitin. (PubMed id 22053931)1 Oshikawa K....Nakayama K.I. (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. (2012)
    6. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    7. Comparison of an expanded ataxia interactome with pat ient medical records reveals a relationship between macular degeneration and at axia. (PubMed id 21078624)1 Kahle J.J....Zoghbi H.Y. (2011)
    8. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    9. Ubiquitin ligase substrate identification through qua ntitative proteomics at both the protein and peptide levels. (PubMed id 21987572)1 Lee K.A....Doedens J.R. (2011)
    10. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)

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

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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.)
    About This Section
    Patent Information for PNMA1 gene:
    Search GeneIP for patents involving PNMA1

    GeneCards and IP:
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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