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    PNMA3 PNMA family member 3 [ Homo sapiens (human) ]

    Gene ID: 29944, updated on 7-Apr-2024

    Summary

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    Official Symbol
    PNMA3provided by HGNC
    Official Full Name
    PNMA family member 3provided by HGNC
    Primary source
    HGNC:HGNC:18742
    See related
    Ensembl:ENSG00000183837 MIM:300675; AllianceGenome:HGNC:18742
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MA3; MA5
    Summary
    The protein encoded by this gene belongs to the paraneoplastic antigen MA (PNMA) family, which shares homology with retroviral Gag proteins. The PNMA antigens are highly expressed in the brain and also in a range of tumors associated with serious neurological phenotypes. PMID:16407312 reports the presence of a functional -1 ribosomal frameshift signal (consisting of a heptanucleotide shift motif followed 3' by a pseudoknot structure) in this gene, however, the frame-shifted product has not been characterized. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]
    Expression
    Biased expression in brain (RPKM 9.4), testis (RPKM 8.8) and 7 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PNMA3 in Genome Data Viewer
    Location:
    Xq28
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (153056470..153060462)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (151323992..151327987)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (152224827..152228822)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene paraneoplastic antigen Ma6F-like Neighboring gene high mobility group nucleosomal binding domain 2 pseudogene 48 Neighboring gene PNMA family member 6A Neighboring gene PNMA family member 6B (pseudogene)

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. A functional -1 ribosomal frameshift signal in the human paraneoplastic Ma3 gene. Wills NM, et al. J Biol Chem, 2006 Mar 17. PMID 16407312
    2. Molecular and clinical diversity in paraneoplastic immunity to Ma proteins. Rosenfeld MR, et al. Ann Neurol, 2001 Sep. PMID 11558790
    3. The human PNMA family: novel neuronal proteins implicated in paraneoplastic neurological disease. Schüller M, et al. J Neuroimmunol, 2005 Dec. PMID 16214224
    4. Comprehensive proteomic analysis of human Par protein complexes reveals an interconnected protein network. Brajenovic M, et al. J Biol Chem, 2004 Mar 26. PMID 14676191
    5. Histone deacetylase inhibitors inhibit cervical cancer growth through Parkin acetylation-mediated mitophagy. Sun X, et al. Acta Pharm Sin B, 2022 Feb. PMID 35256949, Free PMC Article

    See all (10) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. analysis of a ribosomal frameshift signal in the human paraneoplastic Ma3 gene
      Title: A functional -1 ribosomal frameshift signal in the human paraneoplastic Ma3 gene.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC132756, MGC132758

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables nucleic acid binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in positive regulation of apoptotic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in nucleolus IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    paraneoplastic antigen Ma3
    Names
    paraneoplastic Ma antigen 3
    paraneoplastic cancer-testis-brain antigen

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_013256.2 RefSeqGene

      Range
      5064..9056
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001282535.2 → NP_001269464.1  paraneoplastic antigen Ma3 isoform 2

      See identical proteins and their annotated locations for NP_001269464.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) is alternatively spliced in the 3' coding region, which results in a frame-shift compared to variant 1. The resulting isoform (2) is shorter with a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AC243428, AI689415, AL136878, DR001205
      Consensus CDS
      CCDS65344.1
      UniProtKB/TrEMBL
      B2R5S9
      Related
      ENSP00000480719.1, ENST00000619635.1
      Conserved Domains (1) summary
      pfam14893
      Location:1 → 326
      PNMA; PNMA

    2. NM_013364.6 → NP_037496.4  paraneoplastic antigen Ma3 isoform 1

      See identical proteins and their annotated locations for NP_037496.4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC243428, AF083116, AI689415, AL136878, DR001205
      Consensus CDS
      CCDS35435.2
      UniProtKB/Swiss-Prot
      D3DWT7, Q9H0A4, Q9UL41
      UniProtKB/TrEMBL
      B2R5S9
      Related
      ENSP00000469445.1, ENST00000593810.3
      Conserved Domains (1) summary
      pfam14893
      Location:1 → 326
      PNMA; PNMA

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      153056470..153060462
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_938508.4 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      151323992..151327987
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_008485478.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UL41.3 GenPept UniProtKB/Swiss-Prot:Q9UL41

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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