Version 5.4
| Homo sapiens Gene: PNMA1 | |||||||||||||||||||
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| Summary | |||||||||||||||||||
| InnateDB Gene | IDBG-11629.7 | ||||||||||||||||||
| Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
| Gene Symbol | PNMA1 | ||||||||||||||||||
| Gene Name | paraneoplastic Ma antigen 1 | ||||||||||||||||||
| Synonyms | MA1 | ||||||||||||||||||
| Species | Homo sapiens | ||||||||||||||||||
| Ensembl Gene | ENSG00000176903 | ||||||||||||||||||
| Encoded Proteins |
paraneoplastic antigen MA1
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| Protein Structure |
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| Useful resources | Stemformatics EHFPI ImmGen | ||||||||||||||||||
| Entrez Gene | |||||||||||||||||||
| Summary |
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] 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] |
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| Gene Information | |||||||||||||||||||
| Type | Protein coding | ||||||||||||||||||
| Genomic Location | Chromosome 14:73711783-73714372 | ||||||||||||||||||
| Strand | Reverse strand | ||||||||||||||||||
| Band | q24.3 | ||||||||||||||||||
| Transcripts |
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| Interactions | |||||||||||||||||||
| Number of Interactions |
This gene and/or its encoded proteins are associated with 29 experimentally validated interaction(s) in this database.
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| Gene Ontology | |||||||||||||||||||
Molecular Function |
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| Biological Process |
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| Cellular Component |
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| Orthologs | |||||||||||||||||||
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Species
Mus musculus
Bos taurus
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Gene ID
Gene Order
Not yet available
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| Cross-References | |||||||||||||||||||
| SwissProt | Q8ND90 | ||||||||||||||||||
| TrEMBL | |||||||||||||||||||
| UniProt Splice Variant | |||||||||||||||||||
| Entrez Gene | 9240 | ||||||||||||||||||
| UniGene | Hs.194709 | ||||||||||||||||||
| RefSeq | NM_006029 | ||||||||||||||||||
| HUGO | HGNC:9158 | ||||||||||||||||||
| OMIM | 604010 | ||||||||||||||||||
| CCDS | CCDS9818 | ||||||||||||||||||
| HPRD | |||||||||||||||||||
| IMGT | |||||||||||||||||||
| EMBL | AF037364 AF320308 AK290980 AL834327 BC039577 CH471061 | ||||||||||||||||||
| GenPept | AAD13810 AAH39577 AAN05100 BAF83669 CAD38995 EAW81126 | ||||||||||||||||||
| RNA Seq Atlas | 9240 | ||||||||||||||||||