NET1 neuroepithelial cell transforming 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: NET1provided by HGNC
Official Full Name: neuroepithelial cell transforming 1provided by HGNC
Primary source: HGNC:HGNC:14592
See related: Ensembl:ENSG00000173848 MIM:606450; AllianceGenome:HGNC:14592
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: NET1A; ARHGEF8
Summary: This gene is part of the family of Rho guanine nucleotide exchange factors. Members of this family activate Rho proteins by catalyzing the exchange of GDP for GTP. The protein encoded by this gene interacts with RhoA within the cell nucleus and may play a role in repairing DNA damage after ionizing radiation. Pseudogenes of this gene are located on the long arms of chromosomes 1, 7 and 18. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012]
Expression: Ubiquitous expression in colon (RPKM 43.6), small intestine (RPKM 31.5) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 10p15.1

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (5412557..5459056)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (5415941..5462403)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (5454520..5501019)

Chromosome 10 - NC_000010.11 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 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?

SP1-induced circ_0017552 modulates colon cancer cell proliferation and apoptosis via up-regulation of NET1.
Title: SP1-induced circ_0017552 modulates colon cancer cell proliferation and apoptosis via up-regulation of NET1.
Association between NET-1 Level in Placenta from Preeclampsia Pregnancies and Trophoblast Proliferation and Apoptosis: A Correlation Analysis.
Title: Association between NET-1 Level in Placenta from Preeclampsia Pregnancies and Trophoblast Proliferation and Apoptosis: A Correlation Analysis.
Circ_0000745 promotes acute lymphoblastic leukemia progression through mediating miR-494-3p/NET1 axis.
Title: Circ_0000745 promotes acute lymphoblastic leukemia progression through mediating miR-494-3p/NET1 axis.
Cdk1 phosphorylation negatively regulates the activity of Net1 towards RhoA during mitosis.
Title: Cdk1 phosphorylation negatively regulates the activity of Net1 towards RhoA during mitosis.
Simultaneous binding of Guidance Cues NET1 and RGM blocks extracellular NEO1 signaling.
Title: Simultaneous binding of Guidance Cues NET1 and RGM blocks extracellular NEO1 signaling.
NET1 promotes HCC growth and metastasis in vitro and in vivo via activating the Akt signaling pathway.
Title: NET1 promotes HCC growth and metastasis in vitro and in vivo via activating the Akt signaling pathway.
Regulation of RhoA activation and cell motility by c-Jun N-terminal kinases and Net1.
Title: Regulation of RhoA activation and cell motility by c-Jun N-terminal kinases and Net1.
Monoaminergic Genetic Variants, Prefrontal Cortex-Amygdala Circuit, and Emotional Symptoms in Children With ADHD: Exploration Based on the Gene-Brain-Behavior Relationship.
Title: Monoaminergic Genetic Variants, Prefrontal Cortex-Amygdala Circuit, and Emotional Symptoms in Children With ADHD: Exploration Based on the Gene-Brain-Behavior Relationship.
Neuroepithelial Cell Transforming Gene 1 Acts as an Oncogene and Is Mediated by miR-22 in Human Non-Small-Cell Lung Cancer.
Title: Neuroepithelial Cell Transforming Gene 1 Acts as an Oncogene and Is Mediated by miR-22 in Human Non-Small-Cell Lung Cancer.
LncRNA CTC-497E21.4 promotes the progression of gastric cancer via modulating miR-22/NET1 axis through RhoA signaling pathway.
Title: LncRNA CTC-497E21.4 promotes the progression of gastric cancer via modulating miR-22/NET1 axis through RhoA signaling pathway.

Submit: New GeneRIF Correction See all GeneRIFs (50)

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NET1 (e-PCR)
- UniSTS:506391

SHGC-155498 (e-PCR)
- UniSTS:182302

A004R05 (e-PCR)
- UniSTS:39842

G20525 (e-PCR)
- UniSTS:45736

A005V03 (e-PCR)
- UniSTS:45737

G30942 (e-PCR)
- UniSTS:58841

STS-U02081 (e-PCR)
- UniSTS:20958

WI-18301 (e-PCR)
- UniSTS:62691

D10S2144 (e-PCR)
- UniSTS:39673

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables guanyl-nucleotide exchange factor activity	TAS Traceable Author Statement more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cellular response to hydrogen peroxide	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to ionizing radiation	IDA Inferred from Direct Assay more info	PubMed
involved_in intracellular signal transduction	IEA Inferred from Electronic Annotation more info
involved_in myoblast migration	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of GTPase activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of Rho protein signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of apoptotic process	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of cell growth	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of small GTPase mediated signal transduction	TAS Traceable Author Statement more info
involved_in signal transduction	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in cytosol	TAS Traceable Author Statement more info
located_in nucleus	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: neuroepithelial cell-transforming gene 1 protein

Names: Rho guanine nucleotide exchange factor (GEF) 8; epididymis secretory sperm binding protein; guanine nucleotide regulatory protein (oncogene); neuroepithelioma transforming gene 1; p65 Net1 proto-oncogene protein; small GTP-binding protein regulator

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.

Genomic

NG_050652.2 RefSeqGene

Range

5002..51501

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001047160.3 → NP_001040625.1 neuroepithelial cell-transforming gene 1 protein isoform 1

See identical proteins and their annotated locations for NP_001040625.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).

Source sequence(s)

AL732437

Consensus CDS

CCDS41483.1

UniProtKB/Swiss-Prot

Q12773, Q7Z628, Q96D82, Q99903, Q9UEN6

UniProtKB/TrEMBL

Q59EF9, Q5SQI5

Related

ENSP00000347134.4, ENST00000355029.9

Conserved Domains (2) summary

smart00325
Location:178 → 354

RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases

cd13224
Location:368 → 502

PH_Net1; Neuroepithelial cell transforming 1 Pleckstrin homology (PH) domain
NM_005863.5 → NP_005854.2 neuroepithelial cell-transforming gene 1 protein isoform 2

See identical proteins and their annotated locations for NP_005854.2

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2) has a distinct N-terminus and is shorter than isoform 1.

Source sequence(s)

AL732437

Consensus CDS

CCDS7067.1

UniProtKB/TrEMBL

A0A2X0SFV4, Q5SQI7

Related

ENSP00000369717.3, ENST00000380359.3

Conserved Domains (3) summary

smart00325
Location:124 → 300

RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases

cd13224
Location:314 → 448

PH_Net1; Neuroepithelial cell transforming 1 Pleckstrin homology (PH) domain

pfam00169
Location:333 → 447

PH; PH domain

RNA

NR_073040.1 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (3) uses an alternate 5' exon and uses an alternate splice site in an internal exon, compared to variant 1. This variant is represented as non-coding due to the presence of an upstream ORF that is predicted to interfere with translation of the longest ORF; translation of the upstream ORF renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AK304028, AL732437, BC010285, BQ024592, BU633004, CD722646, DA727151