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 mul... See more...

Aliases for NETO1 Gene

Aliases for NETO1 Gene

  • Neuropilin And Tolloid Like 1 2 3 5
  • Brain-Specific Transmembrane Protein Containing 2 CUB And 1 LDL-Receptor Class A Domains Protein 1 3 4
  • Neuropilin (NRP) And Tolloid (TLL)-Like 1 2 3
  • Neuropilin And Tolloid-Like Protein 1 3 4
  • BTCL1 3 4
  • BCTL1 3

External Ids for NETO1 Gene

Previous GeneCards Identifiers for NETO1 Gene

  • GC18M070103
  • GC18M070490
  • GC18M068558
  • GC18M068560
  • GC18M067134
  • GC18M070413

Summaries for NETO1 Gene

Entrez Gene Summary for NETO1 Gene

  • 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]

GeneCards Summary for NETO1 Gene

NETO1 (Neuropilin And Tolloid Like 1) is a Protein Coding gene. Diseases associated with NETO1 include Cleft Soft Palate and Chromosome 18Q Deletion Syndrome. Gene Ontology (GO) annotations related to this gene include ionotropic glutamate receptor binding. An important paralog of this gene is NETO2.

UniProtKB/Swiss-Prot Summary for NETO1 Gene

  • Involved in the development and/or maintenance of neuronal circuitry. Accessory subunit of the neuronal N-methyl-D-aspartate receptor (NMDAR) critical for maintaining the abundance of GRIN2A-containing NMDARs in the postsynaptic density. Regulates long-term NMDA receptor-dependent synaptic plasticity and cognition, at least in the context of spatial learning and memory (By similarity).

Additional gene information for NETO1 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NETO1 Gene

Genomics for NETO1 Gene

GeneHancer (GH) Regulatory Elements for NETO1 Gene

Promoters and enhancers for NETO1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH18J072868 Promoter/Enhancer 1.9 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 516.9 +0.2 245 4.2 SAP30 HDAC2 ETS1 RAD21 RNF2 TAF1 EZH2 EGR1 CTBP2 SUZ12 NETO1 ENSG00000263958 LOC100505797 lnc-CBLN2-11 lnc-NETO1-3 CBLN2
GH18J073562 Enhancer 0.7 Ensembl ENCODE 15 -695.6 -695643 2.9 FOS NR3C1 MAFK STAT3 BHLHE40 NFE2L2 FOXA1 MYC NETO1 lnc-FBXO15-4 piR-50968-055 lnc-FBXO15-3
GH18J073007 Enhancer 0.7 Ensembl ENCODE 10.5 -140.5 -140454 3.6 EP300 FOS TBX21 SPI1 BHLHE40 MTA2 IKZF1 IKZF2 POLR2A EED NETO1 piR-31199-157 piR-60816-015
GH18J073843 Enhancer 0.6 Ensembl 10 -974.7 -974655 0.4 CTCF NRF1 REST RAD21 TRIM22 SMC3 YY1 ARNT MAX ZNF654 NETO1 piR-31199-158 LOC105372191
GH18J073644 Enhancer 0.7 Ensembl ENCODE 7.3 -778.8 -778811 4 JUND FOS SMARCA4 POLR2A CEBPB MYC STAT3 NETO1 LINC02864 lnc-TIMM21-8 lnc-FBXO15-3 LOC105372190
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NETO1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NETO1

Top Transcription factor binding sites by QIAGEN in the NETO1 gene promoter:
  • AML1a
  • CP2
  • FOXJ2
  • FOXJ2 (long isoform)
  • Nkx2-5

Genomic Locations for NETO1 Gene

Genomic Locations for NETO1 Gene
chr18:72,742,314-72,868,146
(GRCh38/hg38)
Size:
125,833 bases
Orientation:
Minus strand
chr18:70,409,549-70,535,381
(GRCh37/hg19)
Size:
125,833 bases
Orientation:
Minus strand

Genomic View for NETO1 Gene

Genes around NETO1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NETO1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NETO1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NETO1 Gene

Proteins for NETO1 Gene

  • Protein details for NETO1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TDF5-NETO1_HUMAN
    Recommended name:
    Neuropilin and tolloid-like protein 1
    Protein Accession:
    Q8TDF5
    Secondary Accessions:
    • Q86W85
    • Q8ND78
    • Q8TDF4

    Protein attributes for NETO1 Gene

    Size:
    533 amino acids
    Molecular mass:
    60191 Da
    Quaternary structure:
    • Interacts with PLZ domains of DLG2, DLG3 and DLG4 via its C-terminal TRV domain. Interacts with GRIN2A and GRIN2B via its CUB domains (By similarity).

    Alternative splice isoforms for NETO1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NETO1 Gene

Post-translational modifications for NETO1 Gene

  • Glycosylation at Asn306 and Asn340
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for NETO1 Gene

Domains & Families for NETO1 Gene

Gene Families for NETO1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

Protein Domains for NETO1 Gene

Blocks:
  • CUB domain
  • Low density lipoprotein-receptor, class A
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for NETO1 Gene

GenScript: Design optimal peptide antigens:
  • Brain-specific transmembrane protein containing 2 CUB and 1 LDL-receptor class A domains protein 1 (NETO1_HUMAN)
genes like me logo Genes that share domains with NETO1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for NETO1 Gene

Function for NETO1 Gene

Molecular function for NETO1 Gene

UniProtKB/Swiss-Prot Function:
Involved in the development and/or maintenance of neuronal circuitry. Accessory subunit of the neuronal N-methyl-D-aspartate receptor (NMDAR) critical for maintaining the abundance of GRIN2A-containing NMDARs in the postsynaptic density. Regulates long-term NMDA receptor-dependent synaptic plasticity and cognition, at least in the context of spatial learning and memory (By similarity).

Phenotypes From GWAS Catalog for NETO1 Gene

Gene Ontology (GO) - Molecular Function for NETO1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0035255 ionotropic glutamate receptor binding IEA --
genes like me logo Genes that share ontologies with NETO1: view
genes like me logo Genes that share phenotypes with NETO1: view

Animal Models for NETO1 Gene

MGI Knock Outs for NETO1:

Animal Model Products

miRNA for NETO1 Gene

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for NETO1 Gene

Localization for NETO1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NETO1 Gene

[Isoform 2]: Cell membrane; Single-pass type I membrane protein. Cell junction, synapse, postsynaptic density membrane. Note=Component of the postsynaptic density (PSD) of excitatory synapses. {ECO:0000250}.
[Isoform 3]: Cell membrane; Single-pass type I membrane protein.
[Isoform 1]: Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NETO1 gene
Compartment Confidence
plasma membrane 4
extracellular 4
cytoskeleton 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1
lysosome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for NETO1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005886 plasma membrane IEA --
GO:0014069 postsynaptic density ISS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with NETO1: view

Pathways & Interactions for NETO1 Gene

PathCards logo

SuperPathways for NETO1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for NETO1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007613 memory ISS --
GO:0008542 visual learning ISS --
GO:0048168 regulation of neuronal synaptic plasticity IEA --
GO:0048169 regulation of long-term neuronal synaptic plasticity ISS --
GO:0097120 receptor localization to synapse IEA --
genes like me logo Genes that share ontologies with NETO1: view

No data available for Pathways by source and SIGNOR curated interactions for NETO1 Gene

Drugs & Compounds for NETO1 Gene

No Compound Related Data Available

Transcripts for NETO1 Gene

mRNA/cDNA for NETO1 Gene

9 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for NETO1 Gene

No ASD Table

Relevant External Links for NETO1 Gene

GeneLoc Exon Structure for
NETO1

Expression for NETO1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NETO1 Gene

mRNA differential expression in normal tissues according to GTEx for NETO1 Gene

This gene is overexpressed in Brain - Anterior cingulate cortex (BA24) (x6.7), Brain - Frontal Cortex (BA9) (x6.2), Brain - Putamen (basal ganglia) (x5.6), Brain - Caudate (basal ganglia) (x5.4), Brain - Cortex (x5.4), Brain - Nucleus accumbens (basal ganglia) (x5.2), and Brain - Hippocampus (x4.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for NETO1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NETO1

SOURCE GeneReport for Unigene cluster for NETO1 Gene:

Hs.465407

mRNA Expression by UniProt/SwissProt for NETO1 Gene:

Q8TDF5-NETO1_HUMAN
Tissue specificity: Isoform 1 and isoform 2 are retina-specific. Isoform 3 is found in retina as well as at lower levels in adult and fetal brain.

Evidence on tissue expression from TISSUES for NETO1 Gene

  • Nervous system(4.7)
  • Eye(4.1)
genes like me logo Genes that share expression patterns with NETO1: view

No data available for Protein differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for NETO1 Gene

Orthologs for NETO1 Gene

This gene was present in the common ancestor of animals.

Orthologs for NETO1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NETO1 31
  • 98 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NETO1 31
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NETO1 31 30
  • 93.12 (n)
OneToOne
cow
(Bos Taurus)
Mammalia NETO1 31 30
  • 91.49 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Neto1 30
  • 90.68 (n)
mouse
(Mus musculus)
Mammalia Neto1 17 31 30
  • 90.49 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia NETO1 31
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves NETO1 31 30
  • 86.87 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NETO1 31
  • 92 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia neto1 30
  • 81.73 (n)
zebrafish
(Danio rerio)
Actinopterygii neto1l 31 30
  • 74.75 (n)
OneToMany
neto1 31
  • 66 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Neto 31
  • 20 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea K03E5.1 32
  • 33 (a)
neto-1 31
  • 31 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 32 (a)
ManyToMany
Species where no ortholog for NETO1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for NETO1 Gene

ENSEMBL:
Gene Tree for NETO1 (if available)
TreeFam:
Gene Tree for NETO1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NETO1: view image

Paralogs for NETO1 Gene

(3) SIMAP similar genes for NETO1 Gene using alignment to 2 proteins:

  • NETO1_HUMAN
  • J3QRF5_HUMAN
genes like me logo Genes that share paralogs with NETO1: view

Variants for NETO1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NETO1 Gene

SNP ID Clinical significance and condition Chr 18 pos Variation AA Info Type
778776 Benign: not provided 72,750,143(-) G/C MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
788659 Benign: not provided 72,865,236(-) C/T MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT
rs17086286 - p.Ala487Gly
rs922999 - p.Ser481Asn

Additional dbSNP identifiers (rs#s) for NETO1 Gene

Structural Variations from Database of Genomic Variants (DGV) for NETO1 Gene

Variant ID Type Subtype PubMed ID
esv27222 CNV loss 19812545
esv2758739 CNV loss 17122850
esv34051 CNV loss 18971310
esv3893139 CNV gain 25118596
esv988415 CNV loss 20482838
nsv1123191 CNV deletion 24896259
nsv1160550 CNV duplication 26073780
nsv2351 CNV deletion 18451855
nsv458290 CNV loss 19166990
nsv483119 CNV loss 15286789
nsv526339 CNV loss 19592680
nsv526519 CNV loss 19592680
nsv577622 CNV gain 21841781
nsv577623 CNV loss 21841781
nsv828305 CNV loss 20364138
nsv953556 CNV deletion 24416366
nsv9644 CNV loss 18304495

Variation tolerance for NETO1 Gene

Residual Variation Intolerance Score: 30.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.47; 55.04% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NETO1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
NETO1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NETO1 Gene

Disorders for NETO1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for NETO1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
cleft soft palate
  • cleft velum
chromosome 18q deletion syndrome
  • chromosome 18q- syndrome
- elite association - COSMIC cancer census association via MalaCards
Search NETO1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for NETO1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with NETO1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NETO1 Gene

Publications for NETO1 Gene

  1. A novel gene encoding a putative transmembrane protein with two extracellular CUB domains and a low-density lipoprotein class A module: isolation of alternatively spliced isoforms in retina and brain. (PMID: 11943477) Stöhr H … Weber BH (Gene 2002) 2 3 4 23 54
  2. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 41 54
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  4. Genome-wide CRISPR screen identifies HNRNPL as a prostate cancer dependency regulating RNA splicing. (PMID: 28611215) Fei T … Brown M (Proceedings of the National Academy of Sciences of the United States of America 2017) 3 54
  5. NETO1 Guides Development of Glutamatergic Connectivity in the Hippocampus by Regulating Axonal Kainate Receptors. (PMID: 28680963) Orav E … Lauri SE (eNeuro 2017) 3 54

Products for NETO1 Gene

Sources for NETO1 Gene