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

Gene ID: 81832, updated on 26-Nov-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
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Genomic context

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See NETO1 in Genome Data Viewer
Location:
18q22.3
Exon count:
19
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (72742314..72867987, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (72963774..73089445, complement)
RS_2024_09 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. Genetic determinants of autism in individuals with deletions of 18q. O'Donnell L, et al. Hum Genet, 2010 Aug. PMID 20499253
  3. Pharmacological Modulation of GluK1 and GluK2 by NETO1, NETO2, and PSD95. Li B, et al. Assay Drug Dev Technol, 2016 Mar. PMID 26991362
  4. 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
  5. Distinct functions of kainate receptors in the brain are determined by the auxiliary subunit Neto1. Straub C, et al. Nat Neurosci, 2011 May 29. PMID 21623363, Free PMC Article

See all (27) 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)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

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 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 IEA
Inferred from Electronic Annotation
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_2024_08

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

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