NTN1 netrin 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: NTN1provided by HGNC
Official Full Name: netrin 1provided by HGNC
Primary source: HGNC:HGNC:8029
See related: Ensembl:ENSG00000065320 MIM:601614; AllianceGenome:HGNC:8029
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: NET1; MRMV4; NTN1L
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 of netrin suggest that variation in netrin may be involved in cancer development. [provided by RefSeq, Jul 2008]
Expression: Broad expression in heart (RPKM 20.8), esophagus (RPKM 16.8) and 17 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17p13.1

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (9003087..9244000)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (8910268..9150998)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (8924827..9147317)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Netrin-1 protects blood-brain barrier (BBB) integrity after cerebral ischemia-reperfusion by activating the Kruppel-like factor 2 (KLF2)/occludin pathway.
Title: Netrin-1 protects blood-brain barrier (BBB) integrity after cerebral ischemia-reperfusion by activating the Kruppel-like factor 2 (KLF2)/occludin pathway.
Activation of vascular endothelial cells by synovial fibrosis promotes Netrin-1-induced sensory nerve sprouting and exacerbates pain sensitivity.
Title: Activation of vascular endothelial cells by synovial fibrosis promotes Netrin-1-induced sensory nerve sprouting and exacerbates pain sensitivity.
Differential expression of PLAC1 and Netrin-1 in liver metastasis of colorectal cancer and its predictive value.
Title: Differential expression of PLAC1 and Netrin-1 in liver metastasis of colorectal cancer and its predictive value.
An imbalance of netrin-1 and DCC during nigral degeneration in experimental models and patients with Parkinson's disease.
Title: An imbalance of netrin-1 and DCC during nigral degeneration in experimental models and patients with Parkinson's disease.
Netrin-1 controls inflammation in response to ischemic stroke through altering microglia phenotype.
Title: Netrin-1 controls inflammation in response to ischemic stroke through altering microglia phenotype.
Identification of putative regulatory single-nucleotide variants in NTN1 gene associated with NSCL/P.
Title: Identification of putative regulatory single-nucleotide variants in NTN1 gene associated with NSCL/P.
Netrin-1 promotes the vasculogenic capacity of human adipose-derived stem cells.
Title: Netrin-1 promotes the vasculogenic capacity of human adipose-derived stem cells.
Galphai1/3 mediate Netrin-1-CD146-activated signaling and angiogenesis.
Title: Gαi1/3 mediate Netrin-1-CD146-activated signaling and angiogenesis.
Netrin-1 inducing antiapoptotic effect of acute myeloid leukemia cells in a concentration-dependent manner through the Unc-5 netrin receptor B-focal adhesion kinase axis.
Title: Netrin-1 inducing antiapoptotic effect of acute myeloid leukemia cells in a concentration-dependent manner through the Unc-5 netrin receptor B-focal adhesion kinase axis.
The plasma galectin-3 level has high specificity and sensitivity for predicting postoperative atrial fibrillation after coronary artery bypass surgery.
Title: The plasma galectin-3 level has high specificity and sensitivity for predicting postoperative atrial fibrillation after coronary artery bypass surgery.

Submit: New GeneRIF Correction See all GeneRIFs (168)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Mirror movements 4 MedGen: C4748869 OMIM: 618264 GeneReviews: Congenital Mirror Movements	Compare labs

EBI GWAS Catalog

Description
Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Identification of inherited genetic variations influencing prognosis in early-onset breast cancer. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of netrin 1 (NTN1) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D17S952 (e-PCR), detects polymorphism
- UniSTS:9522

L18181 (e-PCR)
- UniSTS:8779

D17S973 (e-PCR)
- UniSTS:40036

G17991 (e-PCR)
- UniSTS:60606

RH93073 (e-PCR)
- UniSTS:84419

SHGC-2263 (e-PCR)
- UniSTS:85979

RH121604 (e-PCR)
- UniSTS:134376

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in Cdc42 protein signal transduction	ISS Inferred from Sequence or Structural Similarity more info
involved_in Ras protein signal transduction	ISS Inferred from Sequence or Structural Similarity more info
involved_in anterior/posterior axon guidance	IEA Inferred from Electronic Annotation more info
involved_in apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in cell-cell adhesion	IEA Inferred from Electronic Annotation more info
involved_in chemorepulsion of axon	ISS Inferred from Sequence or Structural Similarity more info
involved_in glial cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in inner ear morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in mammary gland duct morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in motor neuron migration	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of axon extension	IEA Inferred from Electronic Annotation more info
involved_in nuclear migration	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of axon extension	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of cell motility	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of glial cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in regulation of glial cell migration	IEA Inferred from Electronic Annotation more info
involved_in regulation of synapse assembly	IEA Inferred from Electronic Annotation more info
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in substrate-dependent cell migration, cell extension	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in actin cytoskeleton	IDA Inferred from Direct Assay more info
located_in basement membrane	IEA Inferred from Electronic Annotation more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in extracellular region	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: netrin-1

Names: epididymis tissue protein Li 131P; netrin 1, mouse, homolog of

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_004822.3 → NP_004813.2 netrin-1 precursor

See identical proteins and their annotated locations for NP_004813.2

Status: REVIEWED

Source sequence(s)

AC005695, AC090610, U75586

Consensus CDS

CCDS11148.1

UniProtKB/Swiss-Prot

E9KL51, O95631

Related

ENSP00000173229.2, ENST00000173229.7

Conserved Domains (4) summary

smart00136
Location:46 → 283

LamNT; Laminin N-terminal domain (domain VI)

cd00055
Location:284 → 329

EGF_Lam; Laminin-type epidermal growth factor-like domain; laminins are the major noncollagenous components of basement membranes that mediate cell adhesion, growth migration, and differentiation; the laminin-type epidermal growth factor-like module occurs in ...

cd03579
Location:487 → 601

NTR_netrin-1_like; NTR domain, Netrin-1-like subfamily; The C-terminal NTR domain of netrins is also called domain C in the context of C. elegans netrin UNC-6. Netrins are secreted proteins that function as tropic cues in the direction of axon growth and cell migration ...

pfam00053
Location:404 → 441

Laminin_EGF; Laminin EGF domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000017.11 Reference GRCh38.p14 Primary Assembly

Range

9003087..9244000

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047437096.1 → XP_047293052.1 netrin-1 isoform X1

UniProtKB/Swiss-Prot

E9KL51, O95631
XM_006721595.4 → XP_006721658.1 netrin-1 isoform X1

See identical proteins and their annotated locations for XP_006721658.1

UniProtKB/Swiss-Prot

E9KL51, O95631

Conserved Domains (4) summary

smart00136
Location:46 → 283

LamNT; Laminin N-terminal domain (domain VI)

cd00055
Location:284 → 329

EGF_Lam; Laminin-type epidermal growth factor-like domain; laminins are the major noncollagenous components of basement membranes that mediate cell adhesion, growth migration, and differentiation; the laminin-type epidermal growth factor-like module occurs in ...

cd03579
Location:487 → 601

NTR_netrin-1_like; NTR domain, Netrin-1-like subfamily; The C-terminal NTR domain of netrins is also called domain C in the context of C. elegans netrin UNC-6. Netrins are secreted proteins that function as tropic cues in the direction of axon growth and cell migration ...

pfam00053
Location:404 → 441

Laminin_EGF; Laminin EGF domain