NNAT neuronatin [Homo sapiens (human)] - Gene

Summary

Official Symbol: NNATprovided by HGNC
Official Full Name: neuronatinprovided by HGNC
Primary source: HGNC:HGNC:7860
See related: Ensembl:ENSG00000053438 MIM:603106; AllianceGenome:HGNC:7860
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: Peg5
Summary: The protein encoded by this gene is a proteolipid that may be involved in the regulation of ion channels during brain development. The encoded protein may also play a role in forming and maintaining the structure of the nervous system. This gene is found within an intron of another gene, bladder cancer associated protein, but on the opposite strand. This gene is imprinted and is expressed only from the paternal allele. [provided by RefSeq, Apr 2016]
Expression: Biased expression in placenta (RPKM 54.6), brain (RPKM 50.1) and 3 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 20q11.23

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (37521250..37523690)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (39245345..39247787)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (36149652..36152092)

Chromosome 20 - NC_000020.11 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 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?

Understanding the impact of structural modifications at the NNAT gene's post-translational acetylation site: in silico approach for predicting its drug-interaction role in anorexia nervosa.
Title: Understanding the impact of structural modifications at the NNAT gene's post-translational acetylation site: in silico approach for predicting its drug-interaction role in anorexia nervosa.
NNAT is a novel mediator of oxidative stress that suppresses ER + breast cancer.
Title: NNAT is a novel mediator of oxidative stress that suppresses ER + breast cancer.
DNA methylation-mediated silencing of Neuronatin promotes hepatocellular carcinoma proliferation through the PI3K-Akt signaling pathway.
Title: DNA methylation-mediated silencing of Neuronatin promotes hepatocellular carcinoma proliferation through the PI3K-Akt signaling pathway.
In silico identification of the rare-coding pathogenic mutations and structural modeling of human NNAT gene associated with anorexia nervosa.
Title: In silico identification of the rare-coding pathogenic mutations and structural modeling of human NNAT gene associated with anorexia nervosa.
The predictive potential of Neuronatin for neoadjuvant chemotherapy of breast cancer.
Title: The predictive potential of Neuronatin for neoadjuvant chemotherapy of breast cancer.
NNAT variants and NNAT expression changes may be associated with susceptibility to eating disorders such as anorexia nervosa.
Title: Anorexia nervosa is associated with Neuronatin variants.
The authors found a significant association between the localization of RET mutations and the expression of three genes: NNAT (suggested to be a tumour suppressor gene), CDC14B (involved in cell cycle control) and NTRK3 (tyrosine receptor kinase that undergoes rearrangement in papillary thyroid cancer) in patients with medullary thyroid cancer.
Title: Differences in the transcriptome of medullary thyroid cancer regarding the status and type of RET gene mutations.
Data suggest NNAT as a potential tumor suppressor in myxoid liposarcomas.
Title: Integrative DNA methylation and gene expression analysis in high-grade soft tissue sarcomas.
Neuronatin gene: Imprinted and misfolded: Studies in Lafora disease, diabetes and cancer may implicate NNAT-aggregates as a common downstream participant in neuronal loss.
Title: Neuronatin gene: Imprinted and misfolded: Studies in Lafora disease, diabetes and cancer may implicate NNAT-aggregates as a common downstream participant in neuronal loss.
indicate that Nnat is related to keratinocyte differentiation by up-regulating involucrin expression
Title: Neuronatin is related to keratinocyte differentiation by up-regulating involucrin.

Submit: New GeneRIF Correction See all GeneRIFs (20)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Copy number response

Description
Copy number response Haploinsufficency No evidence available (Last evaluated 2012-04-28) ClinGen Genome Curation Page Triplosensitivity No evidence available (Last evaluated 2012-04-28) ClinGen Genome Curation Page

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	Downregulation of guanine nucleotide-releasing protein, CD151/PETA-3, neuronatin, neuroendocrine differentiation factor, mitochondria 16s rRNA, and signal recognition particle is observed in HIV-1 infected and HIV-1 gp120-treated astrocytes	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH27937 (e-PCR)
- UniSTS:70173

D20S125E (e-PCR)
- UniSTS:35994

RH79915 (e-PCR)
- UniSTS:89517

WI-21755 (e-PCR)
- UniSTS:38886

Gene Ontology Provided by GOA

Process	Evidence Code	Pubs
involved_in brain development	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of insulin secretion	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein lipoylation	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: neuronatin

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_009263.1 RefSeqGene

Range

5046..7486

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_1048

mRNA and Protein(s)

NM_001322802.2 → NP_001309731.1 neuronatin isoform gamma

Status: REVIEWED

Description

Transcript Variant: This variant (3) uses an alternate splice site in the 5' coding region compared to variant 1, resulting in a frameshift. The encoded isoform (gamma) has a longer and distinct C-terminus compared to isoform alpha.

Source sequence(s)

BC001768, CN388981, HY021161

Consensus CDS

CCDS93038.1

UniProtKB/TrEMBL

A0A3B3ITN5

Related

ENSP00000497857.1, ENST00000649309.2
NM_005386.4 → NP_005377.1 neuronatin isoform alpha

See identical proteins and their annotated locations for NP_005377.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (alpha).

Source sequence(s)

BC001768, HY021161

Consensus CDS

CCDS13296.1

UniProtKB/Swiss-Prot

B2R558, E1P5V6, Q16517, Q16596, Q5U0N3

Related

ENSP00000497164.1, ENST00000649451.1
NM_181689.3 → NP_859017.1 neuronatin isoform beta

See identical proteins and their annotated locations for NP_859017.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1, resulting in an isoform (beta) that is shorter compared to isoform alpha.

Source sequence(s)

AI879211, BC001768

Consensus CDS

CCDS13297.1

UniProtKB/Swiss-Prot

Q16517

Related

ENSP00000335497.2, ENST00000346199.3