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

Gene ID: 29944, updated on 2-Nov-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
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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_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (153056470..153060462)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (151323992..151327987)
RS_2024_09 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 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. Assessment of community efforts to advance network-based prediction of protein-protein interactions. Wang XW, et al. Nat Commun, 2023 Mar 22. PMID 36949045, Free PMC Article

See all (11) 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)

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_2024_08

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.

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