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

Summary

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

Location:: 17q25.1

Exon count:: 22

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (76081016..76103787, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (76977586..77000348, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (74077097..74099868, complement)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

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.
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.
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.
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.
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.
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.
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.
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.
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.
GIV directly and constitutively binds the exocyst complex subunit Exo-70 and also associates with GLUT4-storage vesicles (GSVs) exclusively upon insulin stimulation.
Title: GIV/girdin binds exocyst subunit-Exo70 and regulates exocytosis of GLUT4 storage vesicles.

Submit: New GeneRIF Correction See all GeneRIFs (16)

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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D15S1477 (e-PCR)
- UniSTS:474482

SHGC-36023 (e-PCR)
- UniSTS:42433

EXOC7__7609 (e-PCR)
- UniSTS:467677

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 more info	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

NG_030672.1 RefSeqGene

Range

5001..27772

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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
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
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
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
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
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
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
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