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

Gene ID: 60412, updated on 2-Nov-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
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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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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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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)

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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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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