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

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; 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: mouse all
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Genomic context

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_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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

NoName (e-PCR)
- UniSTS:484360

STS-N70548 (e-PCR)
- UniSTS:37744

PNMA3__5734 (e-PCR)
- UniSTS:463809

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

NG_013256.2 RefSeqGene

Range

5064..9056

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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