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

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; AllianceGenome:HGNC:9158
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: mouse all
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Genomic context

Location:: 14q24.3

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (73711783..73714384, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (67919319..67921920, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (74178486..74181087, complement)

Chromosome 14 - NC_000014.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

PNMA2 functions as antagonist of MOAP-1 and PNMA1 through heterodimeric interaction
Title: PNMA2 mediates heterodimeric interactions and antagonizes chemo-sensitizing activities mediated by members of PNMA family.
this study provides evidence that PNMA1 is involved in tumor growth of pancreatic carcinoma
Title: PNMA1 promotes cell growth in human pancreatic ductal adenocarcinoma.

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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

HSC0RE052 (e-PCR)
- UniSTS:68160

MARC_13971-13972:1010423493:1 (e-PCR)
- UniSTS:267631

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 nucleolus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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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.