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PNMA1 PNMA family member 1 [ Homo sapiens (human) ]

Gene ID: 9240, updated on 11-Jun-2021

Summary

Official Symbol
PNMA1provided by HGNC
Official Full Name
PNMA family member 1provided by HGNC
Primary source
HGNC:HGNC:9158
See related
Ensembl:ENSG00000176903 MIM:604010
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MA1
Summary
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]
Orthologs
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Genomic context

See PNMA1 in Genome Data Viewer
Location:
14q24.3
Exon count:
1
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (73711783..73714384, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (74178486..74181087, complement)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene NADH:ubiquinone oxidoreductase subunit B8 pseudogene 1 Neighboring gene dynein axonemal light chain 1 Neighboring gene RNA, U6 small nuclear 240, pseudogene Neighboring gene mitotic deacetylase associated SANT domain protein Neighboring gene microRNA 4505 Neighboring gene uncharacterized LOC100506476

Genomic regions, transcripts, and products

Bibliography

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in inflammatory response to antigenic stimulus ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in positive regulation of apoptotic process ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
 
located_in nucleolus IDA
Inferred from Direct Assay
more info
PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
paraneoplastic antigen Ma1
Names
37 kDa neuronal protein
neuron- and testis-specific protein 1
paraneoplastic Ma antigen 1
paraneoplastic neuronal antigen MA1

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.

mRNA and Protein(s)

  1. NM_006029.5NP_006020.4  paraneoplastic antigen Ma1

    See identical proteins and their annotated locations for NP_006020.4

    Status: VALIDATED

    Source sequence(s)
    AF320308, AL834327, BG700354, BG719761
    Consensus CDS
    CCDS9818.1
    UniProtKB/Swiss-Prot
    Q8ND90
    Related
    ENSP00000318914.3, ENST00000316836.5
    Conserved Domains (1) summary
    pfam14893
    Location:1324
    PNMA

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p13 Primary Assembly

    Range
    73711783..73714384 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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