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    EXOC7 exocyst complex component 7 [ Homo sapiens (human) ]

    Gene ID: 23265, updated on 10-Dec-2024

    Summary

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    Official Symbol
    EXOC7provided by HGNC
    Official Full Name
    exocyst complex component 7provided by HGNC
    Primary source
    HGNC:HGNC:23214
    See related
    Ensembl:ENSG00000182473 MIM:608163; AllianceGenome:HGNC:23214
    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
    BLOM4; EX070; EXO70; EXOC1; 2-5-3p; Exo70p; NEDSEBA; YJL085W
    Summary
    The protein encoded by this gene is a component of the exocyst complex. The exocyst complex plays a critical role in vesicular trafficking and the secretory pathway by targeting post-Golgi vesicles to the plasma membrane. The encoded protein is required for assembly of the exocyst complex and docking of the complex to the plasma membrane. The encoded protein may also play a role in pre-mRNA splicing through interactions with pre-mRNA-processing factor 19. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 4. [provided by RefSeq, Nov 2011]
    Expression
    Ubiquitous expression in prostate (RPKM 23.4), brain (RPKM 22.0) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See EXOC7 in Genome Data Viewer
    Location:
    17q25.1
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (76081016..76103787, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (76977586..77000348, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (74077097..74099868, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene envoplakin Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:74022969-74023856 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:74030076-74030683 Neighboring gene Sharpr-MPRA regulatory region 345 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:74036239-74036940 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:74036941-74037642 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9001 Neighboring gene signal recognition particle 68 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:74067885-74068712 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:74068713-74069540 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:74070927-74071808 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:74072691-74073571 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:74075097-74076094 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:74076095-74077090 Neighboring gene MPRA-validated peak3003 silencer Neighboring gene galanin receptor 2 Neighboring gene zinc activated ion channel Neighboring gene microRNA 6868 Neighboring gene uncharacterized LOC101928447 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9002 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:74127821-74128482 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:74128483-74129142 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:74133109-74133770 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:74133771-74134430 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:74135093-74135752 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9003 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9004 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9005 Neighboring gene RNF157 antisense RNA 1 Neighboring gene forkhead box J1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. The role of Exo70 in exocytosis and beyond. Zhu Y, et al. Small GTPases, 2019 Sep. PMID 28489961, Free PMC Article
    2. Transient T cell receptor beta-chain variable region-specific expansions of CD4+ and CD8+ T cells during the early phase of pediatric human immunodeficiency virus infection: characterization of expanded cell populations by T cell receptor phenotyping. Soudeyns H, et al. J Infect Dis, 2000 Jan. PMID 10608757
    3. EXO70 protein influences dengue virus secretion. Chen Z, et al. Microbes Infect, 2011 Feb. PMID 21034848
    4. IgA and IgM V(H) repertoires in human colon: evidence for clonally expanded B cells that are widely disseminated. Holtmeier W, et al. Gastroenterology, 2000 Nov. PMID 11054383
    5. The exocyst is required for trypanosome invasion and the repair of mechanical plasma membrane wounds. Fernandes MC, et al. J Cell Sci, 2015 Jan 1. PMID 25380822, Free PMC Article

    See all (95) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. TGM1/3-mediated transamidation of Exo70 promotes tumor metastasis upon LKB1 inactivation.
      Title: TGM1/3-mediated transamidation of Exo70 promotes tumor metastasis upon LKB1 inactivation.
    2. Androgen receptor decreases renal cell carcinoma bone metastases via suppressing the osteolytic formation through altering a novel circEXOC7 regulatory axis.
      Title: Androgen receptor decreases renal cell carcinoma bone metastases via suppressing the osteolytic formation through altering a novel circEXOC7 regulatory axis.
    3. A fine balance between Prpf19 and Exoc7 in achieving degradation of aggregated protein and suppression of cell death in spinocerebellar ataxia type 3.
      Title: A fine balance between Prpf19 and Exoc7 in achieving degradation of aggregated protein and suppression of cell death in spinocerebellar ataxia type 3.
    4. Appraising the Value of Serum and Serum-Derived Exosomal LncRNA-EXOC7 as a Promising Biomarker in Cervical Cancer.
      Title: Appraising the Value of Serum and Serum-Derived Exosomal LncRNA-EXOC7 as a Promising Biomarker in Cervical Cancer.
    5. ULK1 phosphorylation inhibits Exo70 homo-oligomerization as well as its assembly to the exocyst complex, which are needed for cell protrusion formation and matrix metalloproteinases secretion during cell invasion.
      Title: ULK1 phosphorylates Exo70 to suppress breast cancer metastasis.
    6. studies have implicated the exocyst in a wide range of cellular processes. Particularly, research on the Exo70 subunit of the complex has linked the function of the exocyst in exocytosis to cell adhesion, migration and invasion.
      Title: The role of Exo70 in exocytosis and beyond.
    7. Authors reveal a novel role for exocyst complex component 70 in regulation of neurotensin vesicle exocytosis through its interaction with the extracellular signal-regulated kinase 1 and 2 signaling pathway.
      Title: Kinase suppressor of Ras 1 and Exo70 promote fatty acid-stimulated neurotensin secretion through ERK1/2 signaling.
    8. Exo70 might be a promising negative prognostic factor and a potential therapeutic target for colon cancer.
      Title: Exo70 is an independent prognostic factor in colon cancer.
    9. the results identify Exo70 as a novel transcriptional target of HNF4alpha to promote cell cycle progression in hepatoma, thus provide a basis for the development of therapeutic strategies for hepatocellular carcinoma.
      Title: Exo70 is transcriptionally up-regulated by hepatic nuclear factor 4α and contributes to cell cycle control in hepatoma cells.
    10. the expression of CTTN, Exo70 and MMP-9 in HCC cells was detected and their relations with the ability of migration and invasion of hepatoma carcinoma cells were evaluated
      Title: Cortactin and Exo70 mediated invasion of hepatoma carcinoma cells by MMP-9 secretion.
    Submit: New GeneRIF Correction See all GeneRIFs (17)

    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

    Associated conditions

    Description Tests
    Neurodevelopmental disorder with seizures and brain atrophy
    MedGen: C5436732 OMIM: 619072 GeneReviews: Not available
    		not available

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    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

    • FLJ40965, FLJ46415, DKFZp686J04253

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables phosphatidylinositol-4,5-bisphosphate binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein-macromolecule adaptor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    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 positive regulation of mitotic cytokinetic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of entry of bacterium into host cell IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    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 centriolar satellite 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 growth cone membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in membrane HDA PubMed 
    located_in microtubule organizing center IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in midbody 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 7
    Names
    exocyst complex component Exo70

    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

    1. NG_030672.1 RefSeqGene

      Range
      5001..27772
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001013839.4 → NP_001013861.1  exocyst complex component 7 isoform 1

      See identical proteins and their annotated locations for NP_001013861.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes isoform 1.
      Source sequence(s)
      AB028990, AI653861, BC011045, BX647763
      Consensus CDS
      CCDS32738.1
      UniProtKB/TrEMBL
      Q5G0E1
      Related
      ENSP00000468404.1, ENST00000589210.6
      Conserved Domains (1) summary
      pfam03081
      Location:319 → 678
      Exo70; Exo70 exocyst complex subunit

    2. NM_001145297.4 → NP_001138769.1  exocyst complex component 7 isoform 4

      See identical proteins and their annotated locations for NP_001138769.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) includes an alternate in-frame exon resulting in a longer protein (isoform 4) compared to isoform 1.
      Source sequence(s)
      AB028990, AI653861, BC018466, BX647763
      Consensus CDS
      CCDS45782.1
      UniProtKB/Swiss-Prot
      B5MC69, B8XXP2, Q8ND93, Q8WV91, Q96FF0, Q9H8C3, Q9H9X3, Q9HA32, Q9UPT5
      UniProtKB/TrEMBL
      Q5G0E1
      Related
      ENSP00000334100.6, ENST00000335146.11
      Conserved Domains (1) summary
      pfam03081
      Location:370 → 729
      Exo70; Exo70 exocyst complex subunit

    3. NM_001145298.4 → NP_001138770.1  exocyst complex component 7 isoform 5

      See identical proteins and their annotated locations for NP_001138770.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) omits an in-frame coding exon and includes an alternate in-frame coding exon compared to variant 1. The predicted protein (isoform 5) is shorter than isoform 1.
      Source sequence(s)
      AB028990, AI653861, BX647763, FJ457119
      Consensus CDS
      CCDS45781.1
      UniProtKB/TrEMBL
      Q5G0E1
      Related
      ENSP00000404322.2, ENST00000411744.6
      Conserved Domains (1) summary
      pfam03081
      Location:311 → 670
      Exo70; Exo70 exocyst complex subunit

    4. NM_001145299.4 → NP_001138771.1  exocyst complex component 7 isoform 6

      See identical proteins and their annotated locations for NP_001138771.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) includes an alternate in-frame coding exon, compared to variant 1, resulting in a longer protein isoform (6).
      Source sequence(s)
      AB028990, AI653861, BX647763, FJ457120
      Consensus CDS
      CCDS45783.1
      UniProtKB/TrEMBL
      Q5G0E1
      Related
      ENSP00000489266.1, ENST00000634349.1
      Conserved Domains (1) summary
      pfam03081
      Location:342 → 701
      Exo70; Exo70 exocyst complex subunit

    5. NM_001282313.2 → NP_001269242.1  exocyst complex component 7 isoform 3

      See identical proteins and their annotated locations for NP_001269242.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and has multiple coding region differences, compared to variant 1. These differences cause translation initiation at a downstream AUG, and the resulting isoform (3) has a shorter N-terminus and is shorter compared to isoform 1.
      Source sequence(s)
      AB028990, AI653861, AK295871, BX647763, DC319923
      Consensus CDS
      CCDS45784.1
      UniProtKB/TrEMBL
      B4DJ07, Q5G0E1
      Related
      ENSP00000466682.1, ENST00000467929.6
      Conserved Domains (1) summary
      pfam03081
      Location:278 → 650
      Exo70; Exo70 exocyst complex subunit

    6. NM_001282314.2 → NP_001269243.1  exocyst complex component 7 isoform 7

      See identical proteins and their annotated locations for NP_001269243.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) lacks several 3' exons but contains an alternate 3' structure, and thus differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (7) has a shorter and distinct C-terminus compared with isoform 1.
      Source sequence(s)
      AA215645, AC018665, BC029432, HY020675
      Consensus CDS
      CCDS74164.1
      UniProtKB/TrEMBL
      B5MCY9, K7ERQ5
      Related
      ENSP00000385066.3, ENST00000406660.4

    7. NM_001375974.1 → NP_001362903.1  exocyst complex component 7 isoform 8

      Status: REVIEWED

      Source sequence(s)
      AC018665
      UniProtKB/TrEMBL
      Q5G0E1
      Conserved Domains (1) summary
      pfam03081
      Location:313 → 691
      Exo70; Exo70 exocyst complex subunit

    8. NM_001375975.1 → NP_001362904.1  exocyst complex component 7 isoform 9

      Status: REVIEWED

      Source sequence(s)
      AC018665
      UniProtKB/TrEMBL
      Q63HP7
      Conserved Domains (1) summary
      pfam03081
      Location:282 → 660
      Exo70; Exo70 exocyst complex subunit

    9. NM_001375976.1 → NP_001362905.1  exocyst complex component 7 isoform 10

      Status: REVIEWED

      Source sequence(s)
      AC018665
      UniProtKB/TrEMBL
      Q5G0E1
      Conserved Domains (1) summary
      pfam03081
      Location:336 → 714
      Exo70; Exo70 exocyst complex subunit

    10. NM_015219.5 → NP_056034.2  exocyst complex component 7 isoform 2

      See identical proteins and their annotated locations for NP_056034.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AB028990, AI653861, AK023832, BX647763
      Consensus CDS
      CCDS11741.1
      UniProtKB/TrEMBL
      Q63HP7
      Related
      ENSP00000333806.4, ENST00000332065.9
      Conserved Domains (1) summary
      pfam03081
      Location:288 → 647
      Exo70; Exo70 exocyst complex subunit

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      76081016..76103787 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006721788.5 → XP_006721851.1  exocyst complex component 7 isoform X1

      See identical proteins and their annotated locations for XP_006721851.1

      UniProtKB/TrEMBL
      Q5G0E1
      Conserved Domains (1) summary
      pfam03081
      Location:311 → 683
      Exo70; Exo70 exocyst complex subunit

    2. XM_047435690.1 → XP_047291646.1  exocyst complex component 7 isoform X2

    3. XM_047435691.1 → XP_047291647.1  exocyst complex component 7 isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      76977586..77000348 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054315596.1 → XP_054171571.1  exocyst complex component 7 isoform X1

      UniProtKB/TrEMBL
      Q5G0E1

    2. XM_054315597.1 → XP_054171572.1  exocyst complex component 7 isoform X2

    3. XM_054315598.1 → XP_054171573.1  exocyst complex component 7 isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UPT5.3 GenPept UniProtKB/Swiss-Prot:Q9UPT5

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