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

Summary

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

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_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
EXOC4 Promotes Diffuse-Type Gastric Cancer Metastasis via Activating FAK Signal.
Title: EXOC4 Promotes Diffuse-Type Gastric Cancer Metastasis via Activating FAK Signal.
LRRK2 Modulates the Exocyst Complex Assembly by Interacting with Sec8.
Title: LRRK2 Modulates the Exocyst Complex Assembly by Interacting with Sec8.
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.
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.
Sec8 regulates histone-modifying proteins ATF2 and RNF20.
Title: Role of the Exocyst Complex Component Sec6/8 in Genomic Stability.
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.
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.
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.
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 EBI GWAS CatalogPubMed
Genome-wide association study of the rate of cognitive decline in Alzheimer's disease. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

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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

GDB:1317538 (e-PCR)
- UniSTS:32265

G20755 (e-PCR)
- UniSTS:16912

A006F06 (e-PCR)
- UniSTS:16913

SHGC-58935 (e-PCR)
- UniSTS:94482

D7S2452 (e-PCR), detects polymorphism
- UniSTS:66072

D7S681 (e-PCR), detects polymorphism
- UniSTS:65570

WI-17694 (e-PCR)
- UniSTS:68130

AFMa099we5 (e-PCR)
- UniSTS:38704

D7S2437 (e-PCR), detects polymorphism
- UniSTS:13106

GDB:1318734 (e-PCR)
- UniSTS:5176

RH12110 (e-PCR)
- UniSTS:48708

SHGC-53302 (e-PCR)
- UniSTS:88652

RH45693 (e-PCR)
- UniSTS:1614

GDB:1317262 (e-PCR)
- UniSTS:37455

D7S2215 (e-PCR), detects polymorphism
- UniSTS:19282

SHGC-79348 (e-PCR)
- UniSTS:103250

G31563 (e-PCR)
- UniSTS:78433

D10S16 (e-PCR)
- UniSTS:155756

GDB:1317890 (e-PCR)
- UniSTS:42862

RH68070 (e-PCR)
- UniSTS:55159

GDB:1317888 (e-PCR)
- UniSTS:54657

SGC44689 (e-PCR)
- UniSTS:53893

D7S2029 (e-PCR)
- UniSTS:74378

SHGC-110384 (e-PCR)
- UniSTS:167823

D7S2902 (e-PCR)
- UniSTS:55697

GDB:1317578 (e-PCR)
- UniSTS:28826

WI-12642 (e-PCR)
- UniSTS:55963

WI-14795 (e-PCR)
- UniSTS:64416

SHGC-148683 (e-PCR)
- UniSTS:176548

GDB:1317574 (e-PCR)
- UniSTS:52393

RH118512 (e-PCR)
- UniSTS:137913

WI-12426 (e-PCR)
- UniSTS:67785

GDB:1317552 (e-PCR)
- UniSTS:61644

RH68833 (e-PCR)
- UniSTS:46044

D7S2437 (e-PCR), detects polymorphism
- UniSTS:46049

GDB:4585409 (e-PCR)
- UniSTS:55781

D7S681 (e-PCR), detects polymorphism
- UniSTS:77543

D7S1614 (e-PCR)
- UniSTS:8688

GDB:1234272 (e-PCR)
- UniSTS:55798

RH122870 (e-PCR)
- UniSTS:135167

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 more info	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

NG_047176.2 RefSeqGene

Range

5002..817685

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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

NC_000007.14 Reference GRCh38.p14 Primary Assembly

Range

133253078..134100951

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

B3KTF7