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

    Gene ID: 10276, updated on 5-Mar-2024

    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
    NEW
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    Try the new Transcript table

    Genomic context

    See NET1 in Genome Data Viewer
    Location:
    10p15.1
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (5412557..5459056)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (5415941..5462403)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (5454520..5501019)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene urocortin 3 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr10:5427032-5427650 Neighboring gene tubulin alpha like 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2079 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_13203 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_13225 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2080 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:5509025-5509661 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:5511491-5512062 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:5512063-5512634 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:5512635-5513206 Neighboring gene CRISPRi-validated cis-regulatory element chr10.219 Neighboring gene CRISPRi-validated cis-regulatory element chr10.222 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:5535211-5535389 Neighboring gene Sharpr-MPRA regulatory region 10902 Neighboring gene calmodulin like 5 Neighboring gene CALML3 antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:5567229-5567928 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:5567929-5568629 Neighboring gene calmodulin like 3

    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

    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 
    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

    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)

    NEW Try the new Transcript table

    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_050652.2 RefSeqGene

      Range
      5002..51501
      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
      Q12773, Q7Z628, Q96D82, Q99903, Q9UEN6
      UniProtKB/TrEMBL
      Q59EF9, 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/TrEMBL
      A0A2X0SFV4, 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: 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

    1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      5415941..5462403
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)