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    NETO1 neuropilin and tolloid like 1 [ Homo sapiens (human) ]

    Gene ID: 81832, updated on 5-Mar-2024

    Summary

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    Official Symbol
    NETO1provided by HGNC
    Official Full Name
    neuropilin and tolloid like 1provided by HGNC
    Primary source
    HGNC:HGNC:13823
    See related
    Ensembl:ENSG00000166342 MIM:607973; AllianceGenome:HGNC:13823
    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
    BCTL1; BTCL1
    Summary
    This gene encodes a transmembrane protein containing two extracellular CUB domains followed by a low-density lipoprotein class A (LDLa) domain. This protein is thought to play a critical role in spatial learning and memory by regulating the function of synaptic N-methyl-D-aspartic acid receptor complexes in the hippocampus. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2017]
    Expression
    Biased expression in brain (RPKM 5.4) and spleen (RPKM 0.5) See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    18q22.3
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (72742314..72867987, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (72963774..73089445, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (70409549..70535222, complement)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372189 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr18:70100942-70102141 Neighboring gene cerebellin 2 precursor Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 11 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13489 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:70358950-70359733 Neighboring gene RNA, 5S ribosomal pseudogene 460 Neighboring gene NANOG hESC enhancer GRCh37_chr18:70515754-70516255 Neighboring gene microRNA 548av Neighboring gene NETO1 divergent transcript Neighboring gene ReSE screen-validated silencer GRCh37_chr18:70761987-70762155 Neighboring gene Sharpr-MPRA regulatory region 3365 Neighboring gene long intergenic non-protein coding RNA 2864 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr18:70912438-70913029 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr18:70916635-70917834 Neighboring gene ReSE screen-validated silencer GRCh37_chr18:70926050-70926267 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:70931223-70931724

    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. High neuropilin and tolloid-like 1 expression associated with metastasis and poor survival in epithelial ovarian cancer via regulation of actin cytoskeleton. Xu Y, et al. J Cell Mol Med, 2020 Aug. PMID 32638511, Free PMC Article
    2. Pharmacological Modulation of GluK1 and GluK2 by NETO1, NETO2, and PSD95. Li B, et al. Assay Drug Dev Technol, 2016 Mar. PMID 26991362
    3. A case control association study and cognitive function analysis of neuropilin and tolloid-like 1 gene and schizophrenia in the Japanese population. Banno M, et al. PLoS One, 2011. PMID 22205981, Free PMC Article
    4. Genetic determinants of autism in individuals with deletions of 18q. O'Donnell L, et al. Hum Genet, 2010 Aug. PMID 20499253
    5. NETO1 Guides Development of Glutamatergic Connectivity in the Hippocampus by Regulating Axonal Kainate Receptors. Orav E, et al. eNeuro, 2017 May-Jun. PMID 28680963, Free PMC Article

    See all (26) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. High neuropilin and tolloid-like 1 expression associated with metastasis and poor survival in epithelial ovarian cancer via regulation of actin cytoskeleton.
      Title: High neuropilin and tolloid-like 1 expression associated with metastasis and poor survival in epithelial ovarian cancer via regulation of actin cytoskeleton.
    2. Results suggested that the extracellular N-terminal region including the two CUB domains was largely responsible for the distinct regulatory effects of Neto1 and Neto2 on the desensitization properties of GluK1 homomeric receptors
      Title: The auxiliary subunits Neto1 and Neto2 have distinct, subunit-dependent effects at recombinant GluK1- and GluK2-containing kainate receptors.
    3. Neto1 is concluded to be a component of amyloid precursor protein /NMDA receptor trafficking complexes
      Title: Neto1 associates with the NMDA receptor/amyloid precursor protein complex.
    4. no evidence for the association of NETO1 with schizophrenia in the Japanese population
      Title: A case control association study and cognitive function analysis of neuropilin and tolloid-like 1 gene and schizophrenia in the Japanese population.
    5. Mouse neto1 plays a critical role in spatial learning and memory through the regulation of NMDAR subunit abundance at synapses.
      Title: Neto1 is a novel CUB-domain NMDA receptor-interacting protein required for synaptic plasticity and learning.
    6. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    7. Observational study of gene-disease association. (HuGE Navigator)
      Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
    Submit: New GeneRIF Correction

    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

    EBI GWAS Catalog

    Description
    A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.
    EBI GWAS Catalog
    Fraction of exhaled nitric oxide values in childhood are associated with 17q11.2-q12 and 17q12-q21 variants.
    EBI GWAS Catalog
    The genetic architecture of economic and political preferences.
    EBI GWAS Catalog

    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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ41325

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ionotropic glutamate receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in anterograde axonal transport of neurotransmitter receptor complex IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in memory ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in neurotransmitter receptor localization to postsynaptic specialization membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of excitatory postsynaptic potential IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of kainate selective glutamate receptor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of long-term neuronal synaptic plasticity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in visual learning ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in Schaffer collateral - CA1 synapse IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in axon cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in excitatory synapse ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in glutamatergic synapse IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in postsynaptic density IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in postsynaptic density ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in postsynaptic density membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    neuropilin and tolloid-like protein 1
    Names
    brain-specific transmembrane protein containing 2 CUB and 1 LDL-receptor class A domains protein 1
    neuropilin (NRP) and tolloid (TLL)-like 1

    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.

    mRNA and Protein(s)

    1. NM_001201465.3 → NP_001188394.2  neuropilin and tolloid-like protein 1 isoform 3 precursor

      Status: REVIEWED

      Source sequence(s)
      AC023301, AC091138
      Consensus CDS
      CCDS12000.1
      UniProtKB/Swiss-Prot
      Q86W85, Q8ND78, Q8TDF4, Q8TDF5
      Related
      ENSP00000464312.1, ENST00000583169.5
      Conserved Domains (2) summary
      cd00041
      Location:51 → 154
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
      cl00104
      Location:291 → 326
      LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...

    2. NM_001354017.2 → NP_001340946.2  neuropilin and tolloid-like protein 1 isoform 3 precursor

      Status: REVIEWED

      Source sequence(s)
      AC023301, AC091138
      Consensus CDS
      CCDS12000.1
      UniProtKB/Swiss-Prot
      Q86W85, Q8ND78, Q8TDF4, Q8TDF5
      Conserved Domains (2) summary
      cd00041
      Location:51 → 154
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
      cl00104
      Location:291 → 326
      LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...

    3. NM_001354018.2 → NP_001340947.2  neuropilin and tolloid-like protein 1 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC023301, AC091138
      Conserved Domains (2) summary
      cd00041
      Location:58 → 144
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
      cl00104
      Location:149 → 184
      LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...

    4. NM_001354020.2 → NP_001340949.2  neuropilin and tolloid-like protein 1 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC023301, AC091138
      Conserved Domains (2) summary
      cd00041
      Location:43 → 146
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
      cl00104
      Location:283 → 318
      LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...

    5. NM_001354021.2 → NP_001340950.1  neuropilin and tolloid-like protein 1 isoform 6 precursor

      Status: REVIEWED

      Source sequence(s)
      AC091138
      Conserved Domains (1) summary
      cd00041
      Location:51 → 154
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.

    6. NM_001354022.2 → NP_001340951.1  neuropilin and tolloid-like protein 1 isoform 7

      Status: REVIEWED

      Source sequence(s)
      AC091138
      Conserved Domains (1) summary
      cd00041
      Location:43 → 146
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.

    7. NM_138966.5 → NP_620416.2  neuropilin and tolloid-like protein 1 isoform 3 precursor

      Status: REVIEWED

      Source sequence(s)
      AC023301, AC091138
      Consensus CDS
      CCDS12000.1
      UniProtKB/Swiss-Prot
      Q86W85, Q8ND78, Q8TDF4, Q8TDF5
      Related
      ENSP00000313088.6, ENST00000327305.11
      Conserved Domains (2) summary
      cd00041
      Location:51 → 154
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
      cl00104
      Location:291 → 326
      LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...

    8. NM_138999.2 → NP_620552.1  neuropilin and tolloid-like protein 1 isoform 1 precursor

      See identical proteins and their annotated locations for NP_620552.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1), also known as sNETO1, encodes isoform 1 and was described by Stohr et. al (PMID:11943477).
      Source sequence(s)
      AC091138, AF448839
      Consensus CDS
      CCDS42444.1
      UniProtKB/Swiss-Prot
      Q8TDF5
      Related
      ENSP00000381024.1, ENST00000397929.5
      Conserved Domains (1) summary
      cd00041
      Location:50 → 153
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.

    RNA

    1. NR_148694.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC023301, AC091138

    2. NR_148695.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC023301, AC091138

    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_000018.10 Reference GRCh38.p14 Primary Assembly

      Range
      72742314..72867987 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017026018.2 → XP_016881507.1  neuropilin and tolloid-like protein 1 isoform X1

      UniProtKB/Swiss-Prot
      Q86W85, Q8ND78, Q8TDF4, Q8TDF5
      Conserved Domains (2) summary
      cd00041
      Location:51 → 154
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
      cl00104
      Location:291 → 326
      LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...

    2. XM_017026017.2 → XP_016881506.1  neuropilin and tolloid-like protein 1 isoform X1

      UniProtKB/Swiss-Prot
      Q86W85, Q8ND78, Q8TDF4, Q8TDF5
      Conserved Domains (2) summary
      cd00041
      Location:51 → 154
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
      cl00104
      Location:291 → 326
      LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...

    3. XM_047437876.1 → XP_047293832.1  neuropilin and tolloid-like protein 1 isoform X2

    4. XM_017026022.2 → XP_016881511.1  neuropilin and tolloid-like protein 1 isoform X3

    5. XM_017026023.2 → XP_016881512.1  neuropilin and tolloid-like protein 1 isoform X4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060942.1 Alternate T2T-CHM13v2.0

      Range
      72963774..73089445 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054319234.1 → XP_054175209.1  neuropilin and tolloid-like protein 1 isoform X1

    2. XM_054319233.1 → XP_054175208.1  neuropilin and tolloid-like protein 1 isoform X1

    3. XM_054319235.1 → XP_054175210.1  neuropilin and tolloid-like protein 1 isoform X2

    4. XM_054319236.1 → XP_054175211.1  neuropilin and tolloid-like protein 1 isoform X3

    5. XM_054319237.1 → XP_054175212.1  neuropilin and tolloid-like protein 1 isoform X4

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_153181.2: Suppressed sequence

      Description
      NM_153181.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8TDF5.2 GenPept UniProtKB/Swiss-Prot:Q8TDF5

    Gene LinkOut

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

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