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

Gene ID: 29944, updated on 23-Nov-2021

Summary

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
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

See PNMA3 in Genome Data Viewer
Location:
Xq28
Exon count:
3
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (153056470..153060462)
105.20201022 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

Expression

  • 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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

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_001282535.2NP_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/Swiss-Prot
    Q9UL41
    Related
    ENSP00000480719.1, ENST00000619635.1
    Conserved Domains (1) summary
    pfam14893
    Location:1326
    PNMA; PNMA
  2. NM_013364.6NP_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
    Q9UL41
    Related
    ENSP00000469445.1, ENST00000593810.3
    Conserved Domains (1) summary
    pfam14893
    Location:1326
    PNMA; PNMA

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

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

RNA

  1. XR_938508.3 RNA Sequence

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