Gene: Ntn1

Basic information

Tag Content
Uniprot ID O09118; B1ARR0; Q60832; Q9QY50;
Entrez ID 18208
Genbank protein ID AAA87938.1; EDL10446.1; AAI41295.1; AAD28602.1; AAC52971.1;
Genbank nucleotide ID NM_008744.2
Ensembl protein ID ENSMUSP00000104314; ENSMUSP00000021284;
Ensembl nucleotide ID ENSMUSG00000020902
Gene name Netrin-1
Gene symbol Ntn1
Organism Mus musculus
NCBI taxa ID 10090
Cleft type
Developmental stage
Data sources Homology search
Reference
Functional description 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 colorectal tumorigenesis by regulating apoptosis (By similarity).
Sequence
MMRAVWEALA ALAAVACLVG AVRGGPGLSM FAGQAAQPDP CSDENGHPRR CIPDFVNAAF 60
GKDVRVSSTC GRPPARYCVV SERGEERLRS CHLCNSSDPK KAHPPAFLTD LNNPHNLTCW 120
QSENYLQFPH NVTLTLSLGK KFEVTYVSLQ FCSPRPESMA IYKSMDYGRT WVPFQFYSTQ 180
CRKMYNRPHR APITKQNEQE AVCTDSHTDM RPLSGGLIAF STLDGRPSAH DFDNSPVLQD 240
WVTATDIRVA FSRLHTFGDE NEDDSELARD SYYYAVSDLQ VGGRCKCNGH AARCVRDRDD 300
SLVCDCRHNT AGPECDRCKP FHYDRPWQRA TAREANECVA CNCNLHARRC RFNMELYKLS 360
GRKSGGVCLN CRHNTAGRHC HYCKEGFYRD MGKPITHRKA CKACDCHPVG AAGKTCNQTT 420
GQCPCKDGVT GITCNRCAKG YQQSRSPIAP CIKIPVAPPT TAASSVEEPE DCDSYCKASK 480
GKLKMNMKKY CRKDYAVQIH ILKADKAGDW WKFTVNIISV YKQGTSRIRR GDQSLWIRSR 540
DIACKCPKIK PLKKYLLLGN AEDSPDQSGI VADKSSLVIQ WRDTWARRLR KFQQREKKGK 600
CKKA 604

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Protein structural annotations

3D structure in PDB database


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Protein disorder information

Orthologous information

Relation Gene symbol Entrez ID UniProt ID Cleft type Developmental stage Species Evidence Details
1:1 orthologNTN1522767F1N0C7Bos taurusPredictionMore>>
1:1 orthologNTN1A0A452FGQ4Capra hircusPredictionMore>>
1:1 orthologNTN19423O95631Homo sapiensPublicationMore>>
1:1 orthologNtn118208O09118Mus musculusPredictionMore>>
1:1 orthologNTN1455083H2QC90Pan troglodytesPredictionMore>>
1:1 orthologA0A4X1V6Z8Sus scrofaPredictionMore>>
1:1 orthologNtn1F1LPC8Rattus norvegicusPredictionMore>>
1:1 orthologntn1a30227O42140Danio rerioPredictionMore>>

Identified variants/mutations related to cleft phenotype

Gene symbol Significant Variants/SNPS Methods PubMed ID
NTN1rs4791774C>T (increase risk)GWAS31780810
NTN1rs11273201Genotyping and GWAS27033726
NTN1rs7406226Genotyping and GWAS27033726
NTN1rs1880646Genotyping and GWAS27033726
NTN1 rs1880646G>AGWAS28232668
NTN1rs2872615A>GGWAS28232668
NTN1haplotype combination rs9788972-rs9915089GWAS3221112
NTN1haplotype combination rs4791774-rs9788972 GWAS3221112
NTN1rs11273201A>AACCCAAAACCCACGWAS; EMMAX; and TWAS33137956
NTN1rs4791774 A>GGWAS and TDT30506619
NTN1rs9904526GWAS and Sanger sequencing25704602

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence
GO:0005125 cytokine activityISS
GO:0005201 extracellular matrix structural constituentRCA
GO:0005515 protein bindingIPI

GO:Biological Process

GO ID GO Term Evidence
GO:0001764 neuron migrationIMP
GO:0002456 T cell mediated immunityISS
GO:0006915 apoptotic processIEA
GO:0006930 substrate-dependent cell migration, cell extensionISS
GO:0006930 substrate-dependent cell migration, cell extensionISO
GO:0007097 nuclear migrationIDA
GO:0007265 Ras protein signal transductionISS
GO:0007265 Ras protein signal transductionISO
GO:0007409 axonogenesisIDA
GO:0007411 axon guidanceIMP
GO:0007411 axon guidanceIDA
GO:0008045 motor neuron axon guidanceIBA
GO:0008284 positive regulation of cell population proliferationIMP
GO:0009887 animal organ morphogenesisIBA
GO:0009888 tissue developmentIBA
GO:0016358 dendrite developmentIBA
GO:0019724 B cell mediated immunityISS
GO:0030334 regulation of cell migrationIDA
GO:0030334 regulation of cell migrationIMP
GO:0030517 negative regulation of axon extensionIDA
GO:0030879 mammary gland developmentIGI
GO:0032488 Cdc42 protein signal transductionISS
GO:0032488 Cdc42 protein signal transductionISO
GO:0033564 anterior/posterior axon guidanceIMP
GO:0042100 B cell proliferationISS
GO:0042472 inner ear morphogenesisIMP
GO:0045773 positive regulation of axon extensionISO
GO:0045773 positive regulation of axon extensionIDA
GO:0051963 regulation of synapse assemblyEXP
GO:0051963 regulation of synapse assemblyIDA
GO:0051963 regulation of synapse assemblyIMP
GO:0060603 mammary gland duct morphogenesisIGI
GO:0061643 chemorepulsion of axonIDA
GO:0098609 cell-cell adhesionIGI
GO:2000147 positive regulation of cell motilityISS
GO:2000147 positive regulation of cell motilityISO

GO:Cellular Component

GO ID GO Term Evidence
GO:0005576 extracellular regionISS
GO:0005576 extracellular regionISO
GO:0005576 extracellular regionTAS
GO:0005604 basement membraneIDA
GO:0005604 basement membraneIBA
GO:0005737 cytoplasmIDA
GO:0031012 extracellular matrixISO
GO:0062023 collagen-containing extracellular matrixHDA
GO:0071944 cell peripheryISO

Reactome Pathway

Reactome ID Reactome Term Evidence
R-MMU-1266738 Developmental BiologyIEA
R-MMU-373752 Netrin-1 signalingIEA
R-MMU-418885 DCC mediated attractive signalingIEA
R-MMU-422475 Axon guidanceIEA

Functional annotations

Keywords

Keyword ID Keyword Term
KW-0002 3D-structure
KW-0053 Apoptosis
KW-0963 Cytoplasm
KW-1015 Disulfide bond
KW-0325 Glycoprotein
KW-0424 Laminin EGF-like domain
KW-1185 Reference proteome
KW-0677 Repeat
KW-0964 Secreted
KW-0732 Signal

Interpro

InterPro ID InterPro Term
IPR008979 Galactose-bd-like_sf
IPR002049 Laminin_EGF
IPR008211 Laminin_N
IPR038684 Laminin_N_sf
IPR001134 Netrin_domain
IPR018933 Netrin_module_non-TIMP
IPR008993 TIMP-like_OB-fold

PROSITE

PROSITE ID PROSITE Term
PS00022 EGF_1
PS01248 EGF_LAM_1
PS50027 EGF_LAM_2
PS51117 LAMININ_NTER
PS50189 NTR

Pfam

Pfam ID Pfam Term
PF00053 Laminin_EGF
PF00055 Laminin_N
PF01759 NTR

Protein-protein interaction

Protein-miRNA interaction