Netrin is included in a family of laminin-related secreted proteins. The function of this gene has not yet been defined; however, netrin is thought to be involved in axon guidance and cell migration during development. Mutations and loss of expression of netrin suggest that variation in netrin may be involved in cancer development. [provided by RefSeq, Jul 2008] See more...

Aliases for NTN1 Gene

Aliases for NTN1 Gene

  • Netrin 1 2 3 5
  • Netrin-1 2 3 4
  • NTN1L 2 3 4
  • Epididymis Tissue Protein Li 131P 3 4
  • Netrin 1, Mouse, Homolog Of 3
  • MRMV4 3
  • NTN1 5

External Ids for NTN1 Gene

Previous GeneCards Identifiers for NTN1 Gene

  • GC17P009272
  • GC17P010016
  • GC17P008867
  • GC17P009125
  • GC17P008865
  • GC17P008924

Summaries for NTN1 Gene

Entrez Gene Summary for NTN1 Gene

  • Netrin is included in a family of laminin-related secreted proteins. The function of this gene has not yet been defined; however, netrin is thought to be involved in axon guidance and cell migration during development. Mutations and loss of expression of netrin suggest that variation in netrin may be involved in cancer development. [provided by RefSeq, Jul 2008]

GeneCards Summary for NTN1 Gene

NTN1 (Netrin 1) is a Protein Coding gene. Diseases associated with NTN1 include Mirror Movements 4 and Mirror Movements 1. Among its related pathways are Guidance Cues and Growth Cone Motility and Netrin-1 signaling. An important paralog of this gene is NTN3.

UniProtKB/Swiss-Prot Summary for NTN1 Gene

  • Netrins control guidance of CNS commissural axons and peripheral motor axons. Its association with either DCC or some UNC5 receptors will lead to axon attraction or repulsion, respectively. Binding to UNC5C might cause dissociation of UNC5C from polymerized TUBB3 in microtubules and thereby lead to increased microtubule dynamics and axon repulsion (PubMed:28483977). Involved in dorsal root ganglion axon projection towards the spinal cord (PubMed:28483977). It also serves as a survival factor via its association with its receptors which prevent the initiation of apoptosis. Involved in tumorigenesis by regulating apoptosis (PubMed:15343335).

Gene Wiki entry for NTN1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NTN1 Gene

Genomics for NTN1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for NTN1 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
GH17J009020 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas 600.7 +0.6 583 3 HNRNPL PRDM10 REST KDM1A BACH1 LARP7 ZIC2 PATZ1 EZH2 ZNF600 NTN1 piR-38477 STX8
GH17J009003 Promoter 0.8 EPDnew 600.4 -18.4 -18442 0.1 ZIC2 POLR2A CTCF EZH2 ZNF600 ZNF561 RAD21 GATAD2B ZBTB26 IKZF1 NTN1 lnc-NTN1-5 piR-50443-156 PIK3R5
GH17J009115 Enhancer 0.9 ENCODE CraniofacialAtlas 15.9 +94.4 94373 1.6 REST FOXA1 ZIC2 PATZ1 CTCF ZNF600 ZBTB20 SP1 USF1 ATF3 NTN1 piR-57460-280 HSALNG0114486 STX8
GH17J009148 Enhancer 1.2 Ensembl ENCODE CraniofacialAtlas dbSUPER 11.1 +128.7 128684 3.2 SOX13 CEBPA TCF7 TCF7L2 ZNF316 FOXA2 ZNF205 SCRT1 HHEX FOXP1 NTN1 HSALNG0114486 piR-57460-280 STX8
GH17J009205 Enhancer 1.1 Ensembl ENCODE CraniofacialAtlas dbSUPER 11.3 +185.4 185373 1.8 FOXA1 SP1 FOXA2 YY1 JUND RAD21 HNF4A RXRA MAX TCF7L2 piR-45035-083 NTN1 RF00017-2278 STX8
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NTN1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NTN1

Top Transcription factor binding sites by QIAGEN in the NTN1 gene promoter:
  • C/EBPalpha
  • Elk-1
  • ER-alpha
  • Lhx3a
  • LHX3b
  • Lmo2
  • NF-1
  • Nkx2-5
  • p53
  • Pax-5

Genomic Locations for NTN1 Gene

Genomic Locations for NTN1 Gene
chr17:9,021,510-9,244,000
(GRCh38/hg38)
Size:
222,491 bases
Orientation:
Plus strand
chr17:8,924,859-9,147,317
(GRCh37/hg19)
Size:
222,459 bases
Orientation:
Plus strand

Genomic View for NTN1 Gene

Genes around NTN1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NTN1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NTN1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NTN1 Gene

Proteins for NTN1 Gene

  • Protein details for NTN1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O95631-NET1_HUMAN
    Recommended name:
    Netrin-1
    Protein Accession:
    O95631
    Secondary Accessions:
    • E9KL51

    Protein attributes for NTN1 Gene

    Size:
    604 amino acids
    Molecular mass:
    67748 Da
    Quaternary structure:
    • Binds to its receptors; DCC, UNC5A, UNC5B, UNC5C and probably UNC5D (PubMed:9950216). Binds to its receptor; DSCAM (PubMed:19196994). Interacts with APP (By similarity).

    Three dimensional structures from OCA and Proteopedia for NTN1 Gene

neXtProt entry for NTN1 Gene

Post-translational modifications for NTN1 Gene

  • Glycosylation at Asn95, Asn116, Asn131, Asn417, Thr460, and Thr461
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

Other Protein References for NTN1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for NTN1 Gene

Domains & Families for NTN1 Gene

Gene Families for NTN1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for NTN1 Gene

InterPro:
Blocks:
  • Laminin-type EGF-like domain
  • Netrin, C-terminal
  • Laminin, N-terminal 2
ProtoNet:

Suggested Antigen Peptide Sequences for NTN1 Gene

GenScript: Design optimal peptide antigens:
  • Netrin-1 (NET1_HUMAN)
genes like me logo Genes that share domains with NTN1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for NTN1 Gene

Function for NTN1 Gene

Molecular function for NTN1 Gene

UniProtKB/Swiss-Prot Function:
Netrins control guidance of CNS commissural axons and peripheral motor axons. Its association with either DCC or some UNC5 receptors will lead to axon attraction or repulsion, respectively. Binding to UNC5C might cause dissociation of UNC5C from polymerized TUBB3 in microtubules and thereby lead to increased microtubule dynamics and axon repulsion (PubMed:28483977). Involved in dorsal root ganglion axon projection towards the spinal cord (PubMed:28483977). It also serves as a survival factor via its association with its receptors which prevent the initiation of apoptosis. Involved in tumorigenesis by regulating apoptosis (PubMed:15343335).
GENATLAS Biochemistry:
netrin 1,axon outgrow-promoting protein with homology to chicken ntn and C elegans UNC-6,ubiquitously expressed,interacting with DCC,mediated by cytoplasmic Ca2+ signals,markedly reduced in brain tumors and neuroblastomas

Phenotypes From GWAS Catalog for NTN1 Gene

Gene Ontology (GO) - Molecular Function for NTN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 10102268
genes like me logo Genes that share ontologies with NTN1: view
genes like me logo Genes that share phenotypes with NTN1: view

Human Phenotype Ontology for NTN1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for NTN1 Gene

MGI Knock Outs for NTN1:
  • Ntn1 Ntn1<tm1.2Tek>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NTN1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for NTN1 Gene

Localization for NTN1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NTN1 Gene

Secreted. Cytoplasm. Note=Mainly secreted. {ECO:0000269 PubMed:28945198}.

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 NTN1 gene
Compartment Confidence
extracellular 5
nucleus 3
cytosol 3
plasma membrane 2
cytoskeleton 2
mitochondrion 2
endoplasmic reticulum 2
peroxisome 1
endosome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for NTN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005604 basement membrane IEA,IBA 21873635
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with NTN1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for NTN1 Gene

Pathways & Interactions for NTN1 Gene

genes like me logo Genes that share pathways with NTN1: view

Pathways by source for NTN1 Gene

1 BioSystems pathway for NTN1 Gene
1 KEGG pathway for NTN1 Gene
1 R&D Systems pathway for NTN1 Gene
5 Qiagen pathways for NTN1 Gene
  • Activation of cAMP-Dependent PKA
  • cAMP Pathway
  • Guidance Cues and Growth Cone Motility
  • Netrin Signaling
  • PKA Signaling

SIGNOR curated interactions for NTN1 Gene

Activates:

Gene Ontology (GO) - Biological Process for NTN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001764 neuron migration IEA --
GO:0006915 apoptotic process IEA --
GO:0006930 substrate-dependent cell migration, cell extension ISS --
GO:0007097 nuclear migration IEA --
GO:0007265 Ras protein signal transduction ISS --
genes like me logo Genes that share ontologies with NTN1: view

Drugs & Compounds for NTN1 Gene

(5) Drugs for NTN1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(4) Additional Compounds for NTN1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with NTN1: view

Transcripts for NTN1 Gene

mRNA/cDNA for NTN1 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NTN1

Alternative Splicing Database (ASD) splice patterns (SP) for NTN1 Gene

No ASD Table

Relevant External Links for NTN1 Gene

GeneLoc Exon Structure for
NTN1

Expression for NTN1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NTN1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for NTN1 Gene

This gene is overexpressed in Esophagus - Gastroesophageal Junction (x7.4), Esophagus - Muscularis (x7.1), Heart - Atrial Appendage (x6.5), and Artery - Aorta (x4.6).

Protein differential expression in normal tissues from HIPED for NTN1 Gene

This gene is overexpressed in Gallbladder (53.1) and Fetal Brain (13.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for NTN1 Gene



Protein tissue co-expression partners for NTN1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NTN1

SOURCE GeneReport for Unigene cluster for NTN1 Gene:

Hs.660885

mRNA Expression by UniProt/SwissProt for NTN1 Gene:

O95631-NET1_HUMAN
Tissue specificity: Widely expressed in normal adult tissues with highest levels in heart, small intestine, colon, liver and prostate. Reduced expression in brain tumors and neuroblastomas. Expressed in epididymis (at protein level).

Evidence on tissue expression from TISSUES for NTN1 Gene

  • Nervous system(4.7)
  • Liver(4.4)
  • Heart(2.8)
  • Kidney(2.7)
  • Muscle(2.7)
  • Blood(2.4)
  • Skin(2.4)
  • Eye(2.4)
  • Intestine(2.2)
genes like me logo Genes that share expression patterns with NTN1: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for NTN1 Gene

Orthologs for NTN1 Gene

This gene was present in the common ancestor of animals.

Orthologs for NTN1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia NTN1 30 31
  • 99.56 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia NTN1 30 31
  • 96.58 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia NTN1 30 31
  • 95.74 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia NTN1 31
  • 95 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Ntn1 30 17 31
  • 92.55 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ntn1 30
  • 92.27 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia NTN1 31
  • 88 (a)
OneToOne
Chicken
(Gallus gallus)
Aves NTN1 30 31
  • 87.42 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia NTN1 31
  • 81 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia ntn1-A 30
Zebrafish
(Danio rerio)
Actinopterygii ntn1b 31
  • 81 (a)
OneToMany
ntn1a 30 31
  • 77.85 (n)
OneToMany
ntn1 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000228 30
  • 65.58 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta NetB 30 31 32
  • 61.65 (n)
ManyToMany
NetA 31 32
  • 43 (a)
ManyToMany
Worm
(Caenorhabditis elegans)
Secernentea unc-6 30 31 32
  • 54.55 (n)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.7467 31
  • 37 (a)
ManyToMany
Species where no ortholog for NTN1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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 Vase (Ciona intestinalis)
  • 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)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)

Evolution for NTN1 Gene

ENSEMBL:
Gene Tree for NTN1 (if available)
TreeFam:
Gene Tree for NTN1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NTN1: view image

Paralogs for NTN1 Gene

(10) SIMAP similar genes for NTN1 Gene using alignment to 2 proteins:

  • NET1_HUMAN
  • H7BZF4_HUMAN
genes like me logo Genes that share paralogs with NTN1: view

Variants for NTN1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NTN1 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
rs1567749982 Pathogenic: MIRROR MOVEMENTS 4 9,239,700(+) ACAT/A INFRAME_DELETION
rs1567750186 Pathogenic: MIRROR MOVEMENTS 4 9,239,954(+) T/C MISSENSE_VARIANT
rs1567750187 Pathogenic: MIRROR MOVEMENTS 4 9,239,955(+) G/C MISSENSE_VARIANT
rs4791331 Uncertain Significance: Nonsyndromic cleft lip with or without cleft palate 9,028,765(+) C/T INTRON_VARIANT
VAR_082027 Mirror movements 4 (MRMV4) [MIM:618264] p.Cys601Arg

Additional dbSNP identifiers (rs#s) for NTN1 Gene

Structural Variations from Database of Genomic Variants (DGV) for NTN1 Gene

Variant ID Type Subtype PubMed ID
dgv1415n106 CNV deletion 24896259
dgv1685e59 CNV duplication 20981092
dgv3096n100 CNV gain 25217958
dgv3097n100 CNV gain 25217958
esv1003228 CNV deletion 20482838
esv25265 CNV loss 19812545
esv2670723 CNV deletion 23128226
esv2675061 CNV deletion 23128226
esv2715625 CNV deletion 23290073
esv2715626 CNV deletion 23290073
esv2715627 CNV deletion 23290073
esv2715628 CNV deletion 23290073
esv2715630 CNV deletion 23290073
esv3427416 CNV duplication 20981092
esv3554112 CNV deletion 23714750
esv3582514 CNV loss 25503493
esv3639895 CNV loss 21293372
nsv1062555 CNV loss 25217958
nsv1064011 CNV gain 25217958
nsv1071336 CNV deletion 25765185
nsv1117178 CNV tandem duplication 24896259
nsv111830 CNV deletion 16902084
nsv1134597 CNV deletion 24896259
nsv1138499 CNV deletion 24896259
nsv1151747 CNV deletion 26484159
nsv1971 CNV insertion 18451855
nsv472393 CNV novel sequence insertion 20440878
nsv516433 CNV loss 19592680
nsv519212 CNV gain 19592680
nsv519249 CNV loss 19592680
nsv521247 CNV loss 19592680
nsv574341 CNV gain 21841781
nsv7289 OTHER inversion 18451855
nsv827882 CNV gain 20364138
nsv833354 CNV loss 17160897
nsv833355 CNV loss 17160897

Variation tolerance for NTN1 Gene

Residual Variation Intolerance Score: 37.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.82; 17.14% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NTN1 Gene

Human Gene Mutation Database (HGMD)
NTN1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NTN1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NTN1 Gene

Disorders for NTN1 Gene

MalaCards: The human disease database

(10) MalaCards diseases for NTN1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
mirror movements 4
  • mrmv4
mirror movements 1
  • cmm
superior semicircular canal dehiscence
  • canal dehiscence syndrome
cleft lip with or without cleft palate
  • tessier cleft number 1,2
semicircular canal dehiscence syndrome
  • scd syndrome
- elite association - COSMIC cancer census association via MalaCards
Search NTN1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

NET1_HUMAN
  • Mirror movements 4 (MRMV4) [MIM:618264]: A disorder characterized by contralateral involuntary movements that mirror voluntary ones. While mirror movements are occasionally found in young children, persistence beyond the age of 10 is abnormal. Mirror movements occur more commonly in the upper extremities. MRMV4 inheritance is autosomal dominant. {ECO:0000269 PubMed:28945198}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for NTN1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with NTN1: view

No data available for Genatlas for NTN1 Gene

Publications for NTN1 Gene

  1. Netrin-1: interaction with deleted in colorectal cancer (DCC) and alterations in brain tumors and neuroblastomas. (PMID: 9950216) Meyerhardt JA … Fearon ER (Cell growth & differentiation : the molecular biology journal of the American Association for Cancer Research 1999) 2 3 4 23
  2. Mutations in the netrin-1 gene cause congenital mirror movements. (PMID: 28945198) Méneret A … Markie D (The Journal of clinical investigation 2017) 3 4
  3. Systematic mapping and functional analysis of a family of human epididymal secretory sperm-located proteins. (PMID: 20736409) Li J … Liu Y (Molecular & cellular proteomics : MCP 2010) 3 4
  4. Netrin-1 mediates early events in pancreatic adenocarcinoma progression, acting on tumor and endothelial cells. (PMID: 20080097) Dumartin L … Hagedorn M (Gastroenterology 2010) 3 23
  5. Netrin-1 dampens pulmonary inflammation during acute lung injury. (PMID: 20075388) Mirakaj V … Rosenberger P (American journal of respiratory and critical care medicine 2010) 3 23

Products for NTN1 Gene

Sources for NTN1 Gene