Gene Gene information from NCBI Gene database.
Entrez ID 9423
Gene name Netrin 1
Gene symbol NTN1
Synonyms (NCBI Gene)
MRMV4NET1NTN1L
Chromosome 17
Chromosome location 17p13.1
Summary 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 o
miRNA miRNA information provided by mirtarbase database.
325
miRTarBase ID miRNA Experiments Reference
MIRT019443 hsa-miR-148b-3p Microarray 17612493
MIRT042477 hsa-miR-423-3p CLASH 23622248
MIRT036113 hsa-miR-1296-5p CLASH 23622248
MIRT715335 hsa-miR-6769a-3p HITS-CLIP 19536157
MIRT715334 hsa-miR-361-3p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
40
GO ID Ontology Definition Evidence Reference
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA
GO:0001764 Process Neuron migration IEA
GO:0005515 Function Protein binding IPI 10102268, 19196994, 19721007, 20434207, 26190107, 28501620
GO:0005576 Component Extracellular region IDA 28945198
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601614 8029 ENSG00000065320
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O95631
Protein name Netrin-1 (Epididymis tissue protein Li 131P)
Protein 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
PDB 4URT , 6FKQ , 7NDG , 7NE0 , 7NE1
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00055 Laminin_N 51 283 Laminin N-terminal (Domain VI) Family
PF00053 Laminin_EGF 285 338 Laminin EGF domain Domain
PF00053 Laminin_EGF 341 401 Laminin EGF domain Domain
PF00053 Laminin_EGF 404 451 Laminin EGF domain Domain
PF01759 NTR 488 594 UNC-6/NTR/C345C module Domain
Tissue specificity 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). {ECO:0000269|PubMed:2
Sequence
Sequence length 604
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Axon guidance   Netrin-1 signaling
DCC mediated attractive signaling
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
31
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Mirror movements 4 Pathogenic rs1567750186, rs1567749982, rs1567750187 RCV000735954
RCV000735955
RCV000735956
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Malignant tumor of esophagus Likely benign rs201189799 RCV005933340
Nonsyndromic cleft lip with or without cleft palate Benign rs4791331 RCV000853549
NTN1-related disorder Likely benign; Uncertain significance; Benign rs745820812, rs779408192, rs2508511026, rs868503729, rs368540968, rs753601647, rs199674301, rs113016880, rs2286511, rs2508093385, rs144535726, rs369647326, rs73262152, rs201189799, rs376332478
View all (8 more)
RCV003900782
RCV003419192
RCV003400111
RCV003391586
RCV003904342
RCV003893811
RCV003912112
RCV003916892
RCV003977290
RCV003901438
RCV003911695
RCV003911713
RCV003939838
RCV003961578
RCV003959205
RCV003961473
RCV003937094
RCV003949455
RCV003932184
RCV003934127
RCV003954531
RCV003979271
RCV003976958
Orofacial cleft 1 Uncertain significance rs2091858467 RCV003321467
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Acute Kidney Injury Associate 20007677, 38033740
Alzheimer Disease Associate 32711556
Aortic Aneurysm Thoracic Associate 31035427
Arthritis Rheumatoid Inhibit 19822088
Atherosclerosis Associate 32151395, 32317107
Bacterial Infections Associate 40275124
beta Thalassemia Stimulate 33715293
Bipolar Disorder Associate 40597885
Brain Neoplasms Associate 24647424
Breast Neoplasms Associate 23319801, 27378792