ENSG00000065320


Homo sapiens

Features
Gene ID: ENSG00000065320
  
Biological name :NTN1
  
Synonyms : netrin 1 / NTN1 / O95631
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 17
Strand: 1
Band: p13.1
Gene start: 9021542
Gene end: 9244000
  
Corresponding Affymetrix probe sets: 208005_at (Human Genome U133 Plus 2.0 Array)   227816_at (Human Genome U133 Plus 2.0 Array)   237847_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000173229
Ensembl peptide - ENSP00000389375
NCBI entrez gene - 9423     See in Manteia.
OMIM - 601614
RefSeq - XM_006721595
RefSeq - NM_004822
RefSeq Peptide - NP_004813
swissprot - O95631
swissprot - H7BZF4
Ensembl - ENSG00000065320
  
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 ntn1aENSDARG00000105112Danio rerio
 ntn1bENSDARG00000022531Danio rerio
 NTN1ENSGALG00000023626Gallus gallus
 Ntn1ENSMUSG00000020902Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
NTN3 / O00634 / netrin 3ENSG0000016206852
NTN5 / Q8WTR8 / netrin 5ENSG0000014223333
USH2A / O75445 / usherinENSG0000004278127
NTNG1 / Q9Y2I2 / netrin G1ENSG0000016263126
NTNG2 / Q96CW9 / netrin G2ENSG0000019635825
MEGF9 / Q9H1U4 / multiple EGF like domains 9ENSG0000010678013


Protein motifs (from Interpro)
Interpro ID Name
 IPR001134  Netrin domain
 IPR002049  Laminin EGF domain
 IPR008211  Laminin, N-terminal
 IPR008979  Galactose-binding-like domain superfamily
 IPR008993  Tissue inhibitor of metalloproteinases-like, OB-fold
 IPR018933  Netrin module, non-TIMP type


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001764 neuron migration IEA
 biological_processGO:0006915 apoptotic process IEA
 biological_processGO:0006930 substrate-dependent cell migration, cell extension ISS
 biological_processGO:0007097 nuclear migration IEA
 biological_processGO:0007265 Ras protein signal transduction ISS
 biological_processGO:0007409 axonogenesis IEA
 biological_processGO:0007411 axon guidance IEA
 biological_processGO:0008284 positive regulation of cell proliferation IEA
 biological_processGO:0030334 regulation of cell migration IEA
 biological_processGO:0030517 negative regulation of axon extension IEA
 biological_processGO:0030879 mammary gland development IEA
 biological_processGO:0032488 Cdc42 protein signal transduction ISS
 biological_processGO:0033564 anterior/posterior axon guidance IEA
 biological_processGO:0042472 inner ear morphogenesis IEA
 biological_processGO:0045773 positive regulation of axon extension IEA
 biological_processGO:0060603 mammary gland duct morphogenesis IEA
 biological_processGO:0098609 cell-cell adhesion IEA
 biological_processGO:2000147 positive regulation of cell motility ISS
 cellular_componentGO:0005576 extracellular region TAS
 cellular_componentGO:0005604 basement membrane IEA
 cellular_componentGO:0005737 cytoplasm IEA
 molecular_functionGO:0005515 protein binding IPI


Pathways (from Reactome)
Pathway description
Netrin-1 signaling
DSCAM interactions
DCC mediated attractive signaling
Netrin mediated repulsion signals
Role of second messengers in netrin-1 signaling
Regulation of commissural axon pathfinding by SLIT and ROBO


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000044 Hypogonadotrophic hypogonadism "Hypogonadotropic hypogonadism is characterized by reduced function of the gonads (testes in males or ovaries in females) and results from the absence of the gonadal stimulating pituitary hormones: follicle stimulating hormone (FSH) and luteinizing hormone (LH)." [HPO:curators]
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 HP:0001256 Mental retardation, mild "Mild mental retardation is defined as an intelligence quotient (IQ) in the range of 50-69." [HPO:curators]
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 HP:0001274 Agenesis of corpus callosum "Absence of the corpus callosum as a result of the failure of the corpus callosum to develop, which can be the result of a failure in any one of the multiple steps of callosal development including cellular proliferation and migration, axonal growth or glial patterning at the midline." [HPO:curators]
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 HP:0001328 Learning disability 
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 HP:0001335 Mirror hand movements (bimanual synkinesia) 
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 HP:0002312 Clumsiness 
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 HP:0002492 Abnormality of the corticospinal tract "Abnormality of the corticospinal tract, which is the chief element of the pyramidal system (the principle motor tract) and is the only direct connection between the cerebrum and the spinal cord." [HPO:curators]
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 HP:0002949 Fused cervical vertebrae 
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 HP:0003326 Myalgia "A tendency to experience muscle pain." [HPO:curators]
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 HP:0003388 Easy fatigability 
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 HP:0007010 Poor fine motor coordination 
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 HP:0025101 Dysgenesis of the hippocampus "Structural abnormality of the hippocampus related to defective development." []
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 HP:0100021 Cerebral paralysis "Cerebral palsy describes a group of permanent disorders of the development of movement and posture, causing activity limitation, that are attributed to nonprogressive disturbances that occurred in the developing fetal or infant brain. The motor disorders of cerebral palsy are often accompanied by disturbances of sensation, perception, cognition, communication, and behaviour, by epilepsy, and by secondary musculoskeletal problems." [HPO:sdoelken]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000106299 WASL / O00401 / Wiskott-Aldrich syndrome like  / reaction / complex
 ENSG00000067141 NEO1 / Q92859 / neogenin 1  / complex / reaction
 ENSG00000174238 PITPNA / Q00169 / phosphatidylinositol transfer protein alpha  / complex / reaction
 ENSG00000181788 SIAH2 / O43255 / siah E3 ubiquitin protein ligase 2  / complex / reaction
 ENSG00000156687 UNC5D / Q6UXZ4 / unc-5 netrin receptor D  / complex / reaction
 ENSG00000158092 NCK1 / P16333 / NCK adaptor protein 1  / complex / reaction
 ENSG00000150760 DOCK1 / Q14185 / dedicator of cytokinesis 1  / complex / reaction
 ENSG00000173210 ABLIM3 / O94929 / actin binding LIM protein family member 3  / complex / reaction
 ENSG00000187323 DCC / P43146 / DCC netrin 1 receptor  / complex / reaction
 ENSG00000099204 ABLIM1 / O14639 / actin binding LIM protein 1  / complex / reaction
 ENSG00000038382 TRIO / O75962 / trio Rho guanine nucleotide exchange factor  / complex / reaction
 ENSG00000113763 UNC5A / Q6ZN44 / unc-5 netrin receptor A  / complex / reaction
 ENSG00000070831 CDC42 / P60953 / cell division cycle 42  / complex / reaction
 ENSG00000163995 ABLIM2 / Q6H8Q1 / actin binding LIM protein family member 2  / complex / reaction
 ENSG00000169398 PTK2 / Q05397 / protein tyrosine kinase 2  / complex / reaction
 ENSG00000107731 UNC5B / Q8IZJ1 / unc-5 netrin receptor B  / complex / reaction
 ENSG00000136238 RAC1 / P63000 / Rac family small GTPase 1  / complex / reaction
 ENSG00000179295 PTPN11 / Q06124 / protein tyrosine phosphatase, non-receptor type 11  / complex / reaction
 ENSG00000196470 SIAH1 / Q8IUQ4 / siah E3 ubiquitin protein ligase 1  / complex / reaction
 ENSG00000154134 ROBO3 / Q96MS0 / roundabout guidance receptor 3  / complex / reaction
 ENSG00000182168 UNC5C / O95185 / unc-5 netrin receptor C  / complex / reaction
 ENSG00000010810 FYN / P06241 / FYN proto-oncogene, Src family tyrosine kinase  / complex / reaction
 ENSG00000197122 SRC / P12931 / SRC proto-oncogene, non-receptor tyrosine kinase  / complex / reaction
 ENSG00000171587 DSCAM / O60469 / DS cell adhesion molecule  / complex / reaction






 

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