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    EXOC4 exocyst complex component 4 [ Homo sapiens (human) ]

    Gene ID: 60412, updated on 28-Oct-2024

    Summary

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    Official Symbol
    EXOC4provided by HGNC
    Official Full Name
    exocyst complex component 4provided by HGNC
    Primary source
    HGNC:HGNC:30389
    See related
    Ensembl:ENSG00000131558 MIM:608185; AllianceGenome:HGNC:30389
    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
    SEC8; Sec8p; SEC8L1
    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 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. The complex is also essential for the biogenesis of epithelial cell surface polarity. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in thyroid (RPKM 6.6), brain (RPKM 6.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See EXOC4 in Genome Data Viewer
    Location:
    7q33
    Exon count:
    31
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (133253078..134100951)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (134574528..135422862)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (132937834..133750514)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375512 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18669 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:132867359-132868318 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26684 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26685 Neighboring gene ST13, Hsp70 interacting protein pseudogene 7 Neighboring gene ribosomal protein S15a pseudogene 23 Neighboring gene MPRA-validated peak6732 silencer Neighboring gene microRNA 6133 Neighboring gene NANOG hESC enhancer GRCh37_chr7:133070852-133071390 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:133127182-133127366 Neighboring gene MPRA-validated peak6734 silencer Neighboring gene MPRA-validated peak6735 silencer Neighboring gene uncharacterized LOC124901748 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:133435225-133435725 Neighboring gene uncharacterized LOC124901749 Neighboring gene Sharpr-MPRA regulatory region 7226 Neighboring gene uncharacterized LOC101928861 Neighboring gene RPS3A pseudogene 27 Neighboring gene cytochrome c oxidase subunit 5B pseudogene 3 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:133579356-133579976 Neighboring gene MPRA-validated peak6743 silencer Neighboring gene MPRA-validated peak6744 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26686 Neighboring gene uncharacterized LOC105375514 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26687 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26688 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr7:133814671-133815405 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18670 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:133874107-133874656 Neighboring gene leucine rich repeats and guanylate kinase domain containing Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18671 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18672 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26689 Neighboring gene solute carrier family 35 member B4

    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. Sec6/8 complex is recruited to cell-cell contacts and specifies transport vesicle delivery to the basal-lateral membrane in epithelial cells. Grindstaff KK, et al. Cell, 1998 May 29. PMID 9630218
    2. Sec8 regulates cytokeratin8 phosphorylation and cell migration by controlling the ERK and p38 MAPK signalling pathways. Tanaka T, et al. Cell Signal, 2015 Jun. PMID 25725287
    3. Exocyst complex component Sec8: a presumed component in the progression of human oral squamous-cell carcinoma by secretion of matrix metalloproteinases. Yamamoto A, et al. J Cancer Res Clin Oncol, 2013 Apr. PMID 23207790
    4. Altered methylation pattern in EXOC4 is associated with stroke outcome: an epigenome-wide association study. Cullell N, et al. Clin Epigenetics, 2022 Sep 30. PMID 36180927, Free PMC Article
    5. Sec6/8 regulates Bcl-2 and Mcl-1, but not Bcl-xl, in malignant peripheral nerve sheath tumor cells. Tanaka T, et al. Apoptosis, 2016 May. PMID 26892009

    See all (148) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Altered methylation pattern in EXOC4 is associated with stroke outcome: an epigenome-wide association study.
      Title: Altered methylation pattern in EXOC4 is associated with stroke outcome: an epigenome-wide association study.
    2. EXOC4 Promotes Diffuse-Type Gastric Cancer Metastasis via Activating FAK Signal.
      Title: EXOC4 Promotes Diffuse-Type Gastric Cancer Metastasis via Activating FAK Signal.
    3. LRRK2 Modulates the Exocyst Complex Assembly by Interacting with Sec8.
      Title: LRRK2 Modulates the Exocyst Complex Assembly by Interacting with Sec8.
    4. Sec8 regulates N-cadherin expression by controlling Smad3 and Smad4 expression through CBP, thereby mediating the epithelial-mesenchymal transition.
      Title: Sec8 modulates TGF-β induced EMT by controlling N-cadherin via regulation of Smad3/4.
    5. Sec8 regulate Bcl-2 and Mcl-1 expressions but not Bcl-xl in malignant peripheral nerve sheath tumor cells.
      Title: Sec6/8 regulates Bcl-2 and Mcl-1, but not Bcl-xl, in malignant peripheral nerve sheath tumor cells.
    6. Sec8 regulates histone-modifying proteins ATF2 and RNF20.
      Title: Role of the Exocyst Complex Component Sec6/8 in Genomic Stability.
    7. Sec8 knockdown in HSC3 cells resulted in reduced expressions of PAK1 and PAK2 by upregulating Pirh2 and Siah1 expression, which inhibited the ERK or p38 MAPK signalling pathway and cytokeratin8 phosphorylation and cell migration.
      Title: Sec8 regulates cytokeratin8 phosphorylation and cell migration by controlling the ERK and p38 MAPK signalling pathways.
    8. knockdown of Sec8 enhances the binding of JIP4 to MAPK kinase 4, thereby decreasing the phosphorylation of MAPK kinase 4, JNK, and p38.
      Title: Knockdown of Sec8 enhances the binding affinity of c-Jun N-terminal kinase (JNK)-interacting protein 4 for mitogen-activated protein kinase kinase 4 (MKK4) and suppresses the phosphorylation of MKK4, p38, and JNK, thereby inhibiting apoptosis.
    9. Exome sequencing revealed a likely pathogenic mutation in three novel candidate MKS disease genes-C5orf42, EVC2 and SEC8 (also known as EXOC4), which encodes an exocyst protein with an established role in ciliogenesis
      Title: Genomic analysis of Meckel-Gruber syndrome in Arabs reveals marked genetic heterogeneity and novel candidate genes.
    10. High Sec8 expression is associated with progression of oral squamous-cell carcinoma by secretion of matrix metalloproteinases.
      Title: Exocyst complex component Sec8: a presumed component in the progression of human oral squamous-cell carcinoma by secretion of matrix metalloproteinases.
    Submit: New GeneRIF Correction See all GeneRIFs (14)

    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
    Framingham Heart Study 100K Project: genome-wide associations for blood pressure and arterial stiffness.
    EBI GWAS Catalog
    Genome-wide association study of the rate of cognitive decline in Alzheimer's disease.
    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-mediated actin rearrangement is inhibited by EXOC4 PubMed
    nef HIV-1 Nef interacts with EXOC4 and this interaction is dependent on the GTPase interaction site of PAK2 PubMed
    nef HIV-1 Nef is identified to have a physical interaction with exocyst complex component 4 (EXOC4) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed
    nef HIV-1 Nef immunocomplexes analyzed by mass spectrometry reveal that exocyst complex component 4 (EXOC4) 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

    • MGC27170

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables PDZ domain binding IEA
    Inferred from Electronic Annotation
    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 chemical synaptic transmission IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in exocytosis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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 paraxial mesoderm formation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein transmembrane 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 centrosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    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 
    is_active_in growth cone membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in membrane HDA PubMed 
    located_in microvillus IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in myelin sheath abaxonal region IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  
    is_active_in synapse IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    exocyst complex component 4
    Names
    SEC8-like 1
    exocyst complex component Sec8

    NCBI Reference Sequences (RefSeq)

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    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_047176.2 RefSeqGene

      Range
      5002..817685
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001037126.2 → NP_001032203.1  exocyst complex component 4 isoform b

      See identical proteins and their annotated locations for NP_001032203.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks multiple exons in the 3' coding region and has a unique 3' UTR, compared to variant 1. This variant encodes isoform b which is much shorter than isoform a.
      Source sequence(s)
      AW451395, BC067263, BE246205
      Consensus CDS
      CCDS43648.1
      UniProtKB/TrEMBL
      Q8TAR2
      Related
      ENSP00000376868.2, ENST00000393161.6
      Conserved Domains (1) summary
      pfam04048
      Location:57 → 143
      Sec8_exocyst; Sec8 exocyst complex component specific domain

    2. NM_021807.4 → NP_068579.3  exocyst complex component 4 isoform a

      See identical proteins and their annotated locations for NP_068579.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
      Source sequence(s)
      AF132734, AK027688
      Consensus CDS
      CCDS5829.1
      UniProtKB/Swiss-Prot
      E9PED2, Q541U8, Q96A65, Q9C0G4, Q9H9K0, Q9P102
      UniProtKB/TrEMBL
      Q6NX51
      Related
      ENSP00000253861.4, ENST00000253861.5
      Conserved Domains (1) summary
      pfam04048
      Location:57 → 143
      Sec8_exocyst; Sec8 exocyst complex component specific domain

    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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      133253078..134100951
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005250523.6 → XP_005250580.1  exocyst complex component 4 isoform X2

      UniProtKB/TrEMBL
      Q8TAR2
      Conserved Domains (1) summary
      pfam04048
      Location:57 → 143
      Sec8_exocyst; Sec8 exocyst complex component specific domain

    2. XM_017012494.3 → XP_016867983.1  exocyst complex component 4 isoform X1

      UniProtKB/TrEMBL
      B3KTF7

    RNA

    1. XR_007060126.1 RNA Sequence

    2. XR_007060125.1 RNA Sequence

    3. XR_007060123.1 RNA Sequence

    4. XR_007060128.1 RNA Sequence

    5. XR_007060127.1 RNA Sequence

    6. XR_007060122.1 RNA Sequence

    7. XR_007060124.1 RNA Sequence

    8. XR_001744845.3 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      134574528..135422862
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054358759.1 → XP_054214734.1  exocyst complex component 4 isoform X2

    2. XM_054358758.1 → XP_054214733.1  exocyst complex component 4 isoform X1

    RNA

    1. XR_008487723.1 RNA Sequence

    2. XR_008487722.1 RNA Sequence

    3. XR_008487720.1 RNA Sequence

    4. XR_008487725.1 RNA Sequence

    5. XR_008487724.1 RNA Sequence

    6. XR_008487718.1 RNA Sequence

    7. XR_008487726.1 RNA Sequence

    8. XR_008487719.1 RNA Sequence

    9. XR_008487721.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96A65.1 GenPept UniProtKB/Swiss-Prot:Q96A65

    Gene LinkOut

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

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