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

    Gene ID: 81832, updated on 27-Nov-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 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

    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)

    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_001201465.3NP_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:51154
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
      cl00104
      Location:291326
      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_001354017.2NP_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:51154
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
      cl00104
      Location:291326
      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_001354018.2NP_001340947.2  neuropilin and tolloid-like protein 1 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC023301, AC091138
      Conserved Domains (2) summary
      cd00041
      Location:58144
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
      cl00104
      Location:149184
      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_001354020.2NP_001340949.2  neuropilin and tolloid-like protein 1 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC023301, AC091138
      Conserved Domains (2) summary
      cd00041
      Location:43146
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
      cl00104
      Location:283318
      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_001354021.2NP_001340950.1  neuropilin and tolloid-like protein 1 isoform 6 precursor

      Status: REVIEWED

      Source sequence(s)
      AC091138
      Conserved Domains (1) summary
      cd00041
      Location:51154
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
    6. NM_001354022.2NP_001340951.1  neuropilin and tolloid-like protein 1 isoform 7

      Status: REVIEWED

      Source sequence(s)
      AC091138
      Conserved Domains (1) summary
      cd00041
      Location:43146
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
    7. NM_138966.5NP_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:51154
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
      cl00104
      Location:291326
      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_138999.2NP_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:50153
      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_017026018.2XP_016881507.1  neuropilin and tolloid-like protein 1 isoform X1

      UniProtKB/Swiss-Prot
      Q86W85, Q8ND78, Q8TDF4, Q8TDF5
      Conserved Domains (2) summary
      cd00041
      Location:51154
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
      cl00104
      Location:291326
      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_017026017.2XP_016881506.1  neuropilin and tolloid-like protein 1 isoform X1

      UniProtKB/Swiss-Prot
      Q86W85, Q8ND78, Q8TDF4, Q8TDF5
      Conserved Domains (2) summary
      cd00041
      Location:51154
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
      cl00104
      Location:291326
      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_047437876.1XP_047293832.1  neuropilin and tolloid-like protein 1 isoform X2

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

    5. XM_017026023.2XP_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_054319234.1XP_054175209.1  neuropilin and tolloid-like protein 1 isoform X1

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

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

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

    5. XM_054319237.1XP_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.