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    EXOC1 exocyst complex component 1 [ Homo sapiens (human) ]

    Gene ID: 55763, updated on 2-Nov-2024

    Summary

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    Official Symbol
    EXOC1provided by HGNC
    Official Full Name
    exocyst complex component 1provided by HGNC
    Primary source
    HGNC:HGNC:30380
    See related
    Ensembl:ENSG00000090989 MIM:607879; AllianceGenome:HGNC:30380
    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
    SEC3; SEC3P; BM-102; SEC3L1
    Summary
    The protein encoded by this gene is a component of the exocyst complex, a multiple protein complex essential for targeting exocytic vesicles to specific docking sites on the plasma membrane. Though best characterized in yeast, the component proteins and functions of the exocyst complex have been demonstrated to be highly conserved in higher eukaryotes. At least eight components of the exocyst complex, including this protein, are found to interact with the actin cytoskeletal remodeling and vesicle transport machinery. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in brain (RPKM 10.9), skin (RPKM 9.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See EXOC1 in Genome Data Viewer
    Location:
    4q12
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (55853648..55905086)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (59341793..59393237)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (56719814..56771252)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377661 Neighboring gene RNA, U6 small nuclear 276, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:56707633-56708266 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:56708267-56708900 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15445 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:56726227-56727426 Neighboring gene exocyst complex component 1 like Neighboring gene uncharacterized LOC105377663 Neighboring gene RNA, U6 small nuclear 652, pseudogene Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:56786864-56788063 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21575 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:56814688-56815652 Neighboring gene uncharacterized LOC124900705 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21576 Neighboring gene centrosomal protein 135 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:56915160-56915835 Neighboring gene VISTA enhancer hs1651 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr4:56952044-56952696 Neighboring gene capping protein inhibiting regulator of actin dynamics Neighboring gene RNA, 5S ribosomal pseudogene 161

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. Role of rs13117307 single nuclear polymorphism in the risk of uterine cervical cancer from Polish population and its impact on exocyst complex component 1 expression. Łaźniak S, et al. Gene, 2017 Sep 5. PMID 28694212
    2. The Sec6/8 complex in mammalian cells: characterization of mammalian Sec3, subunit interactions, and expression of subunits in polarized cells. Matern HT, et al. Proc Natl Acad Sci U S A, 2001 Aug 14. PMID 11493706, Free PMC Article
    3. Anatomic Double-bundle ACL Reconstruction. Schreiber VM, et al. Sports Med Arthrosc Rev, 2010 Mar. PMID 20160627
    4. Human Sec3 protein is a novel transcriptional and translational repressor of flavivirus. Bhuvanakantham R, et al. Cell Microbiol, 2010 Apr 1. PMID 19889084
    5. A genome-wide association study identifies two new cervical cancer susceptibility loci at 4q12 and 17q12. Shi Y, et al. Nat Genet, 2013 Aug. PMID 23817570

    See all (71) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. study provides evidence that Sec3 is involved in TGF-beta induced cell migration and epithelial-mesenchymal transition processes, presumably through the regulation of PI3K/Akt signaling activation in A549 cancer cells
      Title: Sec3 knockdown inhibits TGF-β induced epithelial-mesenchymal transition through the down-regulation of Akt phosphorylation in A549 cells.
    2. rs13117307 is associated with cervical squamous cell carcinoma. rs13117307 SNP upregulated EXCO1 transcript levels in the non-cancerous cervical and in the cervical SCC tissue.
      Title: Role of rs13117307 single nuclear polymorphism in the risk of uterine cervical cancer from Polish population and its impact on exocyst complex component 1 expression.
    3. This study portrayed the non-structural function of C protein that helped the flavivirus to nullify the antiviral activity of hSec3p by accelerating its degradation and facilitating efficient binding of elongation factor 1alpha with flaviviral RNA genome.
      Title: West Nile virus and dengue virus capsid protein negates the antiviral activity of human Sec3 protein through the proteasome pathway.
    4. This study identified human Sec3 exocyst protein (hSec3p) as a novel interacting partner of West Nile virus and Dengue virus C protein.
      Title: Human Sec3 protein is a novel transcriptional and translational repressor of flavivirus.
    5. Sec3 associates with a subset of Exocyst complexes that are enriched at desmosomes.
      Title: Sec3-containing exocyst complex is required for desmosome assembly in mammalian epithelial cells.
    6. The exocyst subunits Sec3 and Sec8 interact with the polarity protein IQGAP1 and that this interaction is triggered by active Cdc42 and RhoA, which are essential for matrix degradation.
      Title: The interaction of IQGAP1 with the exocyst complex is required for tumor cell invasion downstream of Cdc42 and RhoA.
    Submit: New GeneRIF Correction

    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

    EBI GWAS Catalog

    Description
    A genome-wide association study identifies two new cervical cancer susceptibility loci at 4q12 and 17q12.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Nef nef HIV-1 Nef interacts with EXOC1 and this interaction is dependent on the GTPase interaction site of PAK2 PubMed
    nef HIV-1 Nef immunocomplexes analyzed by mass spectrometry reveal that exocyst complex component 1 (EXOC1) is a Nef-binding protein in Jurkat cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ10893

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables phosphatidylinositol-4,5-bisphosphate 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 Golgi to plasma membrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in defense response to virus IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in exocytosis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in exocytosis NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in membrane fission NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in mitotic cytokinesis NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in protein transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of macroautophagy TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in vesicle docking involved in exocytosis NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in vesicle tethering involved in exocytosis NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in Flemming body IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    part_of exocyst IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of exocyst NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in membrane HDA PubMed 
    located_in perinuclear region of cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    exocyst complex component 1
    Names
    SEC3-like 1
    exocyst complex component Sec3

    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)

    1. NM_001024924.2 → NP_001020095.1  exocyst complex component 1 isoform 1

      See identical proteins and their annotated locations for NP_001020095.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site in the 5' UTR, as compared to variant 1. Variants 1 and 3 encode the same isoform (1).
      Source sequence(s)
      AC110611, AW589689, BC094751, BM468054
      Consensus CDS
      CCDS3502.1
      UniProtKB/Swiss-Prot
      Q504V4, Q8WUE7, Q96T15, Q9NV70, Q9NZE4
      Related
      ENSP00000370695.2, ENST00000381295.7
      Conserved Domains (2) summary
      cd14683
      Location:3 → 120
      PH-EXOC1; PH-like domain of Exocyst complex component 1
      pfam09763
      Location:184 → 871
      Sec3_C; Exocyst complex component Sec3

    2. NM_018261.4 → NP_060731.2  exocyst complex component 1 isoform 1

      See identical proteins and their annotated locations for NP_060731.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the shortest transcript but encodes the longer isoform (1). Variants 1 and 3 encode the same protein.
      Source sequence(s)
      AC110611, AK001755, AW589689, BC094751
      Consensus CDS
      CCDS3502.1
      UniProtKB/Swiss-Prot
      Q504V4, Q8WUE7, Q96T15, Q9NV70, Q9NZE4
      Related
      ENSP00000326514.7, ENST00000346134.11
      Conserved Domains (2) summary
      cd14683
      Location:3 → 120
      PH-EXOC1; PH-like domain of Exocyst complex component 1
      pfam09763
      Location:184 → 871
      Sec3_C; Exocyst complex component Sec3

    3. NM_178237.3 → NP_839955.1  exocyst complex component 1 isoform 2

      See identical proteins and their annotated locations for NP_839955.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate exon, compared to variant 1, but maintains the reading frame. The resulting protein (isoform 2) lacks an internal segment and is shorter than isoform 1.
      Source sequence(s)
      AC110611, AK027413, AL833208, AW589689, BC094751
      Consensus CDS
      CCDS3503.1
      Related
      ENSP00000334431.6, ENST00000349598.6
      Conserved Domains (2) summary
      cd14683
      Location:3 → 120
      PH-EXOC1; PH-like domain of Exocyst complex component 1
      pfam09763
      Location:184 → 856
      Sec3_C; Exocyst complex component Sec3

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      55853648..55905086
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005265747.4 → XP_005265804.1  exocyst complex component 1 isoform X1

      See identical proteins and their annotated locations for XP_005265804.1

      Conserved Domains (2) summary
      cd14683
      Location:3 → 120
      PH-EXOC1; PH-like domain of Exocyst complex component 1
      pfam09763
      Location:184 → 889
      Sec3_C; Exocyst complex component Sec3

    2. XM_017008405.3 → XP_016863894.1  exocyst complex component 1 isoform X2

    3. XM_005265750.4 → XP_005265807.1  exocyst complex component 1 isoform X3

      See identical proteins and their annotated locations for XP_005265807.1

      Conserved Domains (2) summary
      cd14683
      Location:3 → 120
      PH-EXOC1; PH-like domain of Exocyst complex component 1
      pfam09763
      Location:184 → 856
      Sec3_C; Exocyst complex component Sec3

    4. XM_005265748.2 → XP_005265805.1  exocyst complex component 1 isoform X1

      See identical proteins and their annotated locations for XP_005265805.1

      Conserved Domains (2) summary
      cd14683
      Location:3 → 120
      PH-EXOC1; PH-like domain of Exocyst complex component 1
      pfam09763
      Location:184 → 889
      Sec3_C; Exocyst complex component Sec3

    5. XM_017008406.2 → XP_016863895.1  exocyst complex component 1 isoform X2

    6. XM_017008407.3 → XP_016863896.1  exocyst complex component 1 isoform X5

    7. XM_047415961.1 → XP_047271917.1  exocyst complex component 1 isoform X4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      59341793..59393237
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054350494.1 → XP_054206469.1  exocyst complex component 1 isoform X1

    2. XM_054350496.1 → XP_054206471.1  exocyst complex component 1 isoform X2

    3. XM_054350498.1 → XP_054206473.1  exocyst complex component 1 isoform X3

    4. XM_054350495.1 → XP_054206470.1  exocyst complex component 1 isoform X1

    5. XM_054350497.1 → XP_054206472.1  exocyst complex component 1 isoform X2

    6. XM_054350500.1 → XP_054206475.1  exocyst complex component 1 isoform X5

    7. XM_054350499.1 → XP_054206474.1  exocyst complex component 1 isoform X4

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NV70.4 GenPept UniProtKB/Swiss-Prot:Q9NV70

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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