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    NNAT neuronatin [ Homo sapiens (human) ]

    Gene ID: 4826, updated on 5-Mar-2024

    Summary

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    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

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    Location:
    20q11.23
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (37521250..37523690)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (39245345..39247787)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (36149652..36152092)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17837 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12889 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:35975052-35975552 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17838 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17839 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:35987177-35987747 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17840 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17841 Neighboring gene SRC proto-oncogene, non-receptor tyrosine kinase Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17842 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17843 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17844 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12891 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:36019051-36019552 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:36022575-36023431 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:36023432-36024287 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:36024288-36025144 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:36025145-36026001 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:36026002-36026858 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12892 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:36035731-36036650 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:36040408-36040917 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:36040918-36041426 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:36049663-36050276 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:36054060-36054560 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:36054561-36055061 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:36070038-36070538 Neighboring gene ribosomal protein L7a pseudogene 14 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:36114871-36115516 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:36115517-36116161 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17845 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:36146997-36147860 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:36147861-36148724 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr20:36154646-36155364 Neighboring gene OCT4-H3K27ac hESC enhancer GRCh37_chr20:36156082-36156799 Neighboring gene BLCAP apoptosis inducing factor Neighboring gene peptidylprolyl isomerase A pseudogene 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:36196423-36196923 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17848 Neighboring gene long intergenic non-protein coding RNA 1746 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:36219641-36220140

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. NNAT is a novel mediator of oxidative stress that suppresses ER + breast cancer. Plasterer C, et al. Mol Med, 2023 Jul 3. PMID 37400769, Free PMC Article
    2. In silico identification of the rare-coding pathogenic mutations and structural modeling of human NNAT gene associated with anorexia nervosa. Azmi MB, et al. Eat Weight Disord, 2022 Oct. PMID 35655118
    3. The predictive potential of Neuronatin for neoadjuvant chemotherapy of breast cancer. Pieper W, et al. Cancer Biomark, 2021. PMID 34092612
    4. Anorexia nervosa is associated with Neuronatin variants. Lombardi L, et al. Psychiatr Genet, 2019 Aug. PMID 30933048
    5. Neuronatin gene: Imprinted and misfolded: Studies in Lafora disease, diabetes and cancer may implicate NNAT-aggregates as a common downstream participant in neuronal loss. Joseph RM. Genomics, 2014 Feb-Mar. PMID 24345642

    See all (33) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 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.
    2. 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.
    3. 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.
    4. 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.
    5. The predictive potential of Neuronatin for neoadjuvant chemotherapy of breast cancer.
      Title: The predictive potential of Neuronatin for neoadjuvant chemotherapy of breast cancer.
    6. 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.
    7. 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.
    8. 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.
    9. 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.
    10. 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)

    Genotypes

    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

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC1439

    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

    1. NG_009263.1 RefSeqGene

      Range
      5046..7486
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1048

    mRNA and Protein(s)

    1. 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

    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

    3. 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

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      37521250..37523690
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      39245345..39247787
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q16517.1 GenPept UniProtKB/Swiss-Prot:Q16517

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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