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

Gene ID: 10276, updated on 13-Mar-2020

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
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

Genomic context

See NET1 in Genome Data Viewer
Location:
10p15.1
Exon count:
13
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (5412557..5459056)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (5454514..5501019)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene urocortin 3 Neighboring gene tubulin alpha like 3 Neighboring gene CRISPRi-validated cis-regulatory element chr10.219 Neighboring gene CRISPRi-validated cis-regulatory element chr10.222

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
Rho guanyl-nucleotide exchange factor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
guanyl-nucleotide exchange factor activity TAS
Traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
G protein-coupled receptor signaling pathway TAS
Traceable Author Statement
more info
 
cellular response to hydrogen peroxide IDA
Inferred from Direct Assay
more info
PubMed 
cellular response to ionizing radiation IDA
Inferred from Direct Assay
more info
PubMed 
intracellular signal transduction IEA
Inferred from Electronic Annotation
more info
 
myoblast migration IEA
Inferred from Electronic Annotation
more info
 
positive regulation of GTPase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of Rho protein signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of apoptotic process TAS
Traceable Author Statement
more info
 
regulation of cell growth NAS
Non-traceable Author Statement
more info
PubMed 
regulation of small GTPase mediated signal transduction TAS
Traceable Author Statement
more info
 
signal transduction TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 
nucleus IEA
Inferred from Electronic Annotation
more info
 

General protein information

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)

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

  1. NG_050652.1 RefSeqGene

    Range
    5001..51506
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001047160.3NP_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
    Q7Z628
    UniProtKB/TrEMBL
    Q5SQI5
    Related
    ENSP00000347134.4, ENST00000355029.9
    Conserved Domains (2) summary
    smart00325
    Location:178354
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
    cd13224
    Location:368502
    PH_Net1; Neuroepithelial cell transforming 1 Pleckstrin homology (PH) domain
  2. NM_005863.5NP_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/Swiss-Prot
    Q7Z628
    UniProtKB/TrEMBL
    Q5SQI7
    Related
    ENSP00000369717.3, ENST00000380359.3
    Conserved Domains (3) summary
    smart00325
    Location:124300
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
    cd13224
    Location:314448
    PH_Net1; Neuroepithelial cell transforming 1 Pleckstrin homology (PH) domain
    pfam00169
    Location:333447
    PH; PH domain

RNA

  1. 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

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

    Range
    5412557..5459056
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024447755.1XP_024303523.1  neuroepithelial cell-transforming gene 1 protein isoform X1

    Conserved Domains (2) summary
    smart00325
    Location:24122
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
    cd13224
    Location:136270
    PH_Net1; Neuroepithelial cell transforming 1 Pleckstrin homology (PH) domain
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