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    NRN1 neuritin 1 [ Homo sapiens (human) ]

    Gene ID: 51299, updated on 10-Dec-2024

    Summary

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    Official Symbol
    NRN1provided by HGNC
    Official Full Name
    neuritin 1provided by HGNC
    Primary source
    HGNC:HGNC:17972
    See related
    Ensembl:ENSG00000124785 MIM:607409; AllianceGenome:HGNC:17972
    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
    NRN; dJ380B8.2
    Summary
    This gene encodes a member of the neuritin family, and is expressed in postmitotic-differentiating neurons of the developmental nervous system and neuronal structures associated with plasticity in the adult. The expression of this gene can be induced by neural activity and neurotrophins. The encoded protein contains a consensus cleavage signal found in glycosylphoshatidylinositol (GPI)-anchored proteins. The encoded protein promotes neurite outgrowth and arborization, suggesting its role in promoting neuritogenesis. Overexpression of the encoded protein may be associated with astrocytoma progression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
    Expression
    Broad expression in brain (RPKM 29.3), fat (RPKM 22.7) and 14 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See NRN1 in Genome Data Viewer
    Location:
    6p25.1
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (5997999..6007518, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (5866869..5876472, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (5998232..6007751, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107986516 Neighboring gene RNA, 7SL, cytoplasmic 221, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:5937911-5938412 Neighboring gene uncharacterized LOC105374898 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:5998084-5999283 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:5999848-6000753 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:6003798-6004622 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16878 Neighboring gene pyruvate kinase M1/2 pseudogene 5 Neighboring gene MPRA-validated peak5639 silencer Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr6:6169218-6169883 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:6178115-6178614 Neighboring gene coagulation factor XIII A chain Neighboring gene microRNA 7853 Neighboring gene microRNA 5683 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:6218631-6219830 Neighboring gene uncharacterized LOC124901253

    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. Effects of neuritin on the migration, senescence and proliferation of human bone marrow mesenchymal stem cells. Wang X, et al. Cell Mol Biol Lett, 2015 Sep. PMID 26208391
    2. Integrated Proteomics to Understand the Role of Neuritin (NRN1) as a Mediator of Cognitive Resilience to Alzheimer's Disease. Hurst C, et al. Mol Cell Proteomics, 2023 May. PMID 37024090, Free PMC Article
    3. NRN1 Gene as a Potential Marker of Early-Onset Schizophrenia: Evidence from Genetic and Neuroimaging Approaches. Almodóvar-Payá C, et al. Int J Mol Sci, 2022 Jul 5. PMID 35806464, Free PMC Article
    4. The neurotrophin Neuritin1 (cpg15) is involved in melanoma migration, attachment independent growth, and vascular mimicry. Bosserhoff AK, et al. Oncotarget, 2017 Jan 3. PMID 27901477, Free PMC Article
    5. Impact of Neuritin 1 (NRN1) polymorphisms on fluid intelligence in schizophrenia. Chandler D, et al. Am J Med Genet B Neuropsychiatr Genet, 2010 Mar 5. PMID 19569075

    See all (35) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. NRN1 epistasis with BDNF and CACNA1C: mediation effects on symptom severity through neuroanatomical changes in schizophrenia.
      Title: NRN1 epistasis with BDNF and CACNA1C: mediation effects on symptom severity through neuroanatomical changes in schizophrenia.
    2. NRN1 interacts with Notch to increase oncogenic STAT3 signaling in melanoma.
      Title: NRN1 interacts with Notch to increase oncogenic STAT3 signaling in melanoma.
    3. Neuritin affects the activity of neuralized-like 1 by promoting degradation and weakening its affinity for substrate.
      Title: Neuritin affects the activity of neuralized-like 1 by promoting degradation and weakening its affinity for substrate.
    4. Integrated Proteomics to Understand the Role of Neuritin (NRN1) as a Mediator of Cognitive Resilience to Alzheimer's Disease.
      Title: Integrated Proteomics to Understand the Role of Neuritin (NRN1) as a Mediator of Cognitive Resilience to Alzheimer's Disease.
    5. NRN1 Gene as a Potential Marker of Early-Onset Schizophrenia: Evidence from Genetic and Neuroimaging Approaches.
      Title: NRN1 Gene as a Potential Marker of Early-Onset Schizophrenia: Evidence from Genetic and Neuroimaging Approaches.
    6. NRN1 and CAT Gene Polymorphisms, Complex Noise, and Lifestyles interactively Affect the Risk of Noise-induced Hearing Loss.
      Title: NRN1 and CAT Gene Polymorphisms, Complex Noise, and Lifestyles interactively Affect the Risk of Noise-induced Hearing Loss.
    7. Methylation of NRN1 is a novel synthetic lethal marker of PI3K-Akt-mTOR and ATR inhibitors in esophageal cancer.
      Title: Methylation of NRN1 is a novel synthetic lethal marker of PI3K-Akt-mTOR and ATR inhibitors in esophageal cancer.
    8. The impact of DNA demethylation on the upregulation of the NRN1 and TNFAIP3 genes associated with advanced gastric cancer.
      Title: The impact of DNA demethylation on the upregulation of the NRN1 and TNFAIP3 genes associated with advanced gastric cancer.
    9. Association of AEBP1 and NRN1 RNA expression with Alzheimer's disease and neurofibrillary tangle density in middle temporal gyrus.
      Title: Association of AEBP1 and NRN1 RNA expression with Alzheimer's disease and neurofibrillary tangle density in middle temporal gyrus.
    10. The expression of NRN1 was significantly lower in women with ovarian endometriosis treated with GnRHa. These results suggest that NRN1 may be a biomarker response to the effect of GnRHa treatment for patients with ovarian endometriosis.
      Title: Decreased Level of Neurotrophic Factor Neuritin 1 in Women with Ovarian Endometriosis after Receiving Gonadotropin-Releasing Hormone Agonist Treatment.
    Submit: New GeneRIF Correction See all GeneRIFs (24)

    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

    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

    Homology

    Clone Names

    • MGC44811

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in neuron projection extension IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in extracellular region TAS
    Traceable Author Statement
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in postsynaptic endocytic zone IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in side of membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    neuritin

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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.

    mRNA and Protein(s)

    1. NM_001278710.2 → NP_001265639.1  neuritin isoform 1 precursor

      See identical proteins and their annotated locations for NP_001265639.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Both variants 1 and 2 encode the same isoform (1).
      Source sequence(s)
      BC002683, BF970432, DB013243
      Consensus CDS
      CCDS4495.1
      UniProtKB/Swiss-Prot
      B2RA93, Q7Z4Y1, Q9NPD7
      Related
      ENSP00000484055.1, ENST00000616243.1
      Conserved Domains (1) summary
      pfam15056
      Location:31 → 117
      NRN1; Neuritin protein family

    2. NM_001278711.2 → NP_001265640.1  neuritin isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in its 5' UTR and 5' coding region, and uses an alternate start codon, compared to variant 1. The encoded isoform (2) has a longer and distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AK093824, BC002683, BX340783
      Consensus CDS
      CCDS75393.1
      UniProtKB/TrEMBL
      A0A087WWT2
      Related
      ENSP00000480483.1, ENST00000622188.4
      Conserved Domains (1) summary
      pfam15056
      Location:57 → 143
      NRN1; Neuritin protein family

    3. NM_016588.3 → NP_057672.1  neuritin isoform 1 precursor

      See identical proteins and their annotated locations for NP_057672.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes isoform 1. Both variants 1 and 2 encode the same isoform.
      Source sequence(s)
      AL136307, BC002683
      Consensus CDS
      CCDS4495.1
      UniProtKB/Swiss-Prot
      B2RA93, Q7Z4Y1, Q9NPD7
      Related
      ENSP00000244766.2, ENST00000244766.7
      Conserved Domains (1) summary
      pfam15056
      Location:31 → 117
      NRN1; Neuritin protein family

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      5997999..6007518 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006715107.4 → XP_006715170.1  neuritin isoform X2

      Conserved Domains (1) summary
      pfam15056
      Location:22 → 108
      NRN1; Neuritin protein family

    2. XM_006715106.4 → XP_006715169.1  neuritin isoform X1

      Conserved Domains (1) summary
      pfam15056
      Location:92 → 178
      NRN1; Neuritin protein family

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      5866869..5876472 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054355569.1 → XP_054211544.1  neuritin isoform X3

      UniProtKB/Swiss-Prot
      B2RA93, Q7Z4Y1, Q9NPD7

    2. XM_054355570.1 → XP_054211545.1  neuritin isoform X2

    3. XM_054355568.1 → XP_054211543.1  neuritin isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NPD7.1 GenPept UniProtKB/Swiss-Prot:Q9NPD7

    Gene LinkOut

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

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