EXOC7 Gene (Protein Coding)

Exocyst Complex Component 7

GC17M076080
GIFtS:
42
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 rol... See more...

Aliases for EXOC7 Gene

Aliases for EXOC7 Gene

  • Exocyst Complex Component 7 2 3 4 5
  • EXO70 2 3 4
  • Exocyst Complex Component Exo70 3 4
  • KIAA1067 2 4
  • YJL085W 2 3
  • Exo70p 2 3
  • BLOM4 2 3
  • NEDSEBA 3
  • 2-5-3p 3
  • EX070 3
  • EXOC1 3
  • EXOC7 5

External Ids for EXOC7 Gene

Previous GeneCards Identifiers for EXOC7 Gene

  • GC17M074674
  • GC17M071588
  • GC17M074077
  • GC17M069506

Summaries for EXOC7 Gene

Entrez Gene Summary for EXOC7 Gene

  • 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]

GeneCards Summary for EXOC7 Gene

EXOC7 (Exocyst Complex Component 7) is a Protein Coding gene. Diseases associated with EXOC7 include Neurodevelopmental Disorder With Seizures And Brain Atrophy and Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency. Among its related pathways are Peptide hormone metabolism and G-protein signaling RAC1 in cellular process.

UniProtKB/Swiss-Prot Summary for EXOC7 Gene

  • Component of the exocyst complex involved in the docking of exocytic vesicles with fusion sites on the plasma membrane. In adipocytes, plays a crucial role in targeting SLC2A4 vesicle to the plasma membrane in response to insulin, perhaps directing the vesicle to the precise site of fusion (By similarity).

Gene Wiki entry for EXOC7 Gene

Additional gene information for EXOC7 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for EXOC7 Gene

Genomics for EXOC7 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for EXOC7 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around EXOC7 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for EXOC7

Top Transcription factor binding sites by QIAGEN in the EXOC7 gene promoter:
  • Arnt
  • c-Myc
  • Max1
  • SRF
  • SRF (504 AA)

Genomic Locations for EXOC7 Gene

Latest Assembly
chr17:76,081,016-76,121,576
(GRCh38/hg38)
Size:
40,561 bases
Orientation:
Minus strand

Previous Assembly
chr17:74,077,097-74,099,868
(GRCh37/hg19 by Entrez Gene)
Size:
22,772 bases
Orientation:
Minus strand

chr17:74,077,087-74,117,657
(GRCh37/hg19 by Ensembl)
Size:
40,571 bases
Orientation:
Minus strand

Genomic View for EXOC7 Gene

Genes around EXOC7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EXOC7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EXOC7 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for EXOC7 Gene

Proteins for EXOC7 Gene

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  • Protein details for EXOC7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UPT5-EXOC7_HUMAN
    Recommended name:
    Exocyst complex component 7
    Protein Accession:
    Q9UPT5
    Secondary Accessions:
    • B5MC69
    • B8XXP2
    • Q8ND93
    • Q8WV91
    • Q96FF0
    • Q9H8C3
    • Q9H9X3
    • Q9HA32

    Protein attributes for EXOC7 Gene

    Size:
    735 amino acids
    Molecular mass:
    83382 Da
    Quaternary structure:
    • The exocyst complex is composed of EXOC1, EXOC2, EXOC3, EXOC4, EXOC5, EXOC6, EXOC7 and EXOC8. Interacts with ARHQ in a GTP-dependent manner. Interacts with RAB11FIP3 (By similarity).
    SequenceCaution:
    • Sequence=BAA83019.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=BAB14095.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
    Miscellaneous:
    • [Isoform 4]: May be due to intron retention.

    Alternative splice isoforms for EXOC7 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EXOC7 Gene

Protein Expression for EXOC7 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for EXOC7 Gene

  • Ubiquitination at Lys40 and Lys65
  • Modification sites at PhosphoSitePlus

Other Protein References for EXOC7 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for EXOC7 Gene

Domains & Families for EXOC7 Gene

Gene Families for EXOC7 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transporters

Protein Domains for EXOC7 Gene

InterPro:
Blocks:
  • Exo70 exocyst complex subunit
ProtoNet:

Suggested Antigen Peptide Sequences for EXOC7 Gene

GenScript: Design optimal peptide antigens:
  • Exocyst complex component Exo70 (EXOC7_HUMAN)
  • 2-5-3p (Q5G0E1_HUMAN)
  • EXOC7 protein (Q96BU6_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9UPT5

UniProtKB/Swiss-Prot:

EXOC7_HUMAN :
  • The N-terminus is involved in SEC8 and ARHQ binding.
  • Belongs to the EXO70 family.
Domain:
  • The N-terminus is involved in SEC8 and ARHQ binding.
  • The C-terminus is required for translocation to the plasma membrane.
Family:
  • Belongs to the EXO70 family.
genes like me logo Genes that share domains with EXOC7: view

Function for EXOC7 Gene

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  6. Cell Lines for research

Molecular function for EXOC7 Gene

UniProtKB/Swiss-Prot Function:
Component of the exocyst complex involved in the docking of exocytic vesicles with fusion sites on the plasma membrane. In adipocytes, plays a crucial role in targeting SLC2A4 vesicle to the plasma membrane in response to insulin, perhaps directing the vesicle to the precise site of fusion (By similarity).

Phenotypes From GWAS Catalog for EXOC7 Gene

Gene Ontology (GO) - Molecular Function for EXOC7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16148947
genes like me logo Genes that share ontologies with EXOC7: view
genes like me logo Genes that share phenotypes with EXOC7: view

Human Phenotype Ontology for EXOC7 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for research

  • Taconic Biosciences Mouse Models for EXOC7

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EXOC7

Clone products for research

  • Addgene plasmids for EXOC7

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for EXOC7 Gene

Localization for EXOC7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EXOC7 Gene

Cytoplasm, cytosol. Cell membrane. Peripheral membrane protein. Midbody, Midbody ring. Note=Translocates, as a preformed complex with EXOC3/SEC6 and EXOC4/SEC8, to the plasma membrane in response to insulin through the activation of ARHQ (By similarity). Colocalizes with CNTRL/centriolin at the midbody ring (PubMed:16213214). {ECO:0000250 UniProtKB:O35250, ECO:0000269 PubMed:16213214}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for EXOC7 gene
Compartment Confidence
plasma membrane 5
cytosol 5
cytoskeleton 4
nucleus 3
golgi apparatus 3
extracellular 2
endoplasmic reticulum 2
endosome 2
lysosome 2
mitochondrion 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Plasma membrane (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for EXOC7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000145 exocyst IEA,IBA 21873635
GO:0005737 cytoplasm IEA --
GO:0005815 microtubule organizing center IDA 18000879
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane TAS --
genes like me logo Genes that share ontologies with EXOC7: view

Pathways & Interactions for EXOC7 Gene

genes like me logo Genes that share pathways with EXOC7: view

Pathways by source for EXOC7 Gene

2 KEGG pathways for EXOC7 Gene
2 Qiagen pathways for EXOC7 Gene
  • CDC42 Pathway
  • Epithelial Tight Junctions

SIGNOR curated interactions for EXOC7 Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for EXOC7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006887 exocytosis IEA,IBA 21873635
GO:0015031 protein transport IEA --
GO:0016241 regulation of macroautophagy TAS 21241894
GO:2000535 regulation of entry of bacterium into host cell IMP 20579884
genes like me logo Genes that share ontologies with EXOC7: view

Drugs & Compounds for EXOC7 Gene

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(1) Drugs for EXOC7 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine triphosphate Experimental Pharma 0
genes like me logo Genes that share compounds with EXOC7: view

Transcripts for EXOC7 Gene

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mRNA/cDNA for EXOC7 Gene

10 REFSEQ mRNAs :
27 NCBI additional mRNA sequence :
21 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EXOC7

Clone products for research

  • Addgene plasmids for EXOC7

Alternative Splicing Database (ASD) splice patterns (SP) for EXOC7 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13a · 13b · 13c · 13d ^ 14 ^ 15a · 15b ^ 16 ^
SP1: - - - - -
SP2: - - -
SP3: - - - -
SP4:
SP5:
SP6: - - -
SP7: - - - -
SP8: - - - - - - - - - - - - - - - - - - - - -
SP9:
SP10: - - - - -
SP11: - - - -
SP12:
SP13: - -
SP14: -
SP15: - - - -

ExUns: 17a · 17b · 17c · 17d ^ 18 ^ 19a · 19b ^ 20a · 20b ^ 21a · 21b · 21c ^ 22 ^ 23 ^ 24a · 24b ^ 25a · 25b ^ 26
SP1: - - -
SP2: - - - - -
SP3: - -
SP4: -
SP5: -
SP6:
SP7:
SP8: - - - - - - - - - - - - - - - -
SP9:
SP10:
SP11:
SP12: -
SP13:
SP14:
SP15:

Relevant External Links for EXOC7 Gene

GeneLoc Exon Structure for
EXOC7

Expression for EXOC7 Gene

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  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for EXOC7 Gene

mRNA expression in normal human tissues for EXOC7 Gene
mRNA expression by GTEx for EXOC7 GenemRNA expression by BioGPS for EXOC7 Gene

Protein differential expression in normal tissues from HIPED for EXOC7 Gene

This gene is overexpressed in Bone (48.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for EXOC7 Gene



Protein tissue co-expression partners for EXOC7 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for EXOC7

SOURCE GeneReport for Unigene cluster for EXOC7 Gene:

Hs.514496

Evidence on tissue expression from TISSUES for EXOC7 Gene

  • Nervous system(4.9)
  • Eye(4.5)
  • Skin(2.8)
  • Adrenal gland(2.6)
  • Kidney(2.5)
  • Pancreas(2.5)
  • Intestine(2.5)
  • Muscle(2.3)
  • Heart(2.2)
  • Blood(2)
genes like me logo Genes that share expression patterns with EXOC7: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for EXOC7 Gene

Orthologs for EXOC7 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for EXOC7 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia EXOC7 31
  • 99 (a)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia EXOC7 31
  • 92 (a)
 OneToOne
Cow
(Bos Taurus)
 Mammalia EXOC7 30 31
  • 91.12 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia EXOC7 30 31
  • 90.35 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia LOC100911734 30
  • 90.25 (n)
Mouse
(Mus musculus)
 Mammalia Exoc7 30 17 31
  • 89.99 (n)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia EXOC7 31
  • 83 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves EXOC7 30 31
  • 80.13 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia EXOC7 31
  • 85 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia Str.4315 30
Zebrafish
(Danio rerio)
 Actinopterygii exoc7 30 31
  • 76.12 (n)
 OneToOne
wufj67f11 30
Rainbow Trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.9364 30
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP006682 30
  • 50.16 (n)
Fruit Fly
(Drosophila melanogaster)
 Insecta exo70 30 31
  • 48.17 (n)
 OneToOne
Worm
(Caenorhabditis elegans)
 Secernentea exoc-7 31
  • 23 (a)
 OneToOne
Thale Cress
(Arabidopsis thaliana)
 eudicotyledons EXO70A1 30
  • 43.41 (n)
Rice
(Oryza sativa)
 Liliopsida Os12g0159700 30
  • 45.62 (n)
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 37 (a)
 OneToOne
Species where no ortholog for EXOC7 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for EXOC7 Gene

ENSEMBL:
Gene Tree for EXOC7 (if available)
TreeFam:
Gene Tree for EXOC7 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for EXOC7: view image

Paralogs for EXOC7 Gene

(1) SIMAP similar genes for EXOC7 Gene using alignment to 9 proteins:

  • EXOC7_HUMAN
  • B4DJ07_HUMAN
  • B5MCY9_HUMAN
  • C9JKC2_HUMAN
  • C9JME6_HUMAN
  • K7ENP8_HUMAN
  • K7ERQ5_HUMAN
  • Q5G0E1_HUMAN
  • Q96BU6_HUMAN

Pseudogenes.org Pseudogenes for EXOC7 Gene

genes like me logo Genes that share paralogs with EXOC7: view

No data available for Paralogs for EXOC7 Gene

Variants for EXOC7 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for EXOC7 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
983545 Pathogenic: Neurodevelopmental disorder with seizures and brain atrophy 76,091,237(-) T/C
NM_001013839.4(EXOC7):c.809-2A>G 		SPLICE_ACCEPTOR_VARIANT,INTRON
983546 Pathogenic: Neurodevelopmental disorder with seizures and brain atrophy 76,088,897(-) TTCAAGCATCAGCCCA
NM_001013839.4(EXOC7):c.1059_1073del (p.Asp353_Leu357del) 		INFRAME_DELETION
983547 Pathogenic: Neurodevelopmental disorder with seizures and brain atrophy 76,101,846(-) GGAT/G
NM_001013839.4(EXOC7):c.138ATC[1] (p.Ser48del) 		INFRAME_DELETION
983548 Pathogenic: Neurodevelopmental disorder with seizures and brain atrophy 76,085,726(-) C/T
NM_001013839.4(EXOC7):c.1567G>A (p.Ala523Thr) 		MISSENSE
rs34439220 Benign: not provided 76,086,093(-) T/C
NM_001013839.4(EXOC7):c.1482A>G (p.Leu494=) 		SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for EXOC7 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for EXOC7 Gene

Variant ID Type Subtype PubMed ID
nsv2142 CNV insertion 18451855
nsv509674 CNV insertion 20534489
nsv833546 CNV loss 17160897

Variation tolerance for EXOC7 Gene

Residual Variation Intolerance Score: 27.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.59; 30.60% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for EXOC7 Gene

Human Gene Mutation Database (HGMD)
EXOC7
SNPedia medical, phenotypic, and genealogical associations of SNPs for
EXOC7

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EXOC7 Gene

Disorders for EXOC7 Gene

MalaCards: The human disease database

(3) MalaCards diseases for EXOC7 Gene - From: OMI, CVR, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search EXOC7 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for EXOC7

Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with EXOC7: view

No data available for UniProtKB/Swiss-Prot and Genatlas for EXOC7 Gene

Publications for EXOC7 Gene

  1. The exocyst is required for trypanosome invasion and the repair of mechanical plasma membrane wounds. (PMID: 25380822) Fernandes MC ā€¦ Andrews NW (Journal of cell science 2015) 2 3
  2. Interaction of BIG2, a brefeldin A-inhibited guanine nucleotide-exchange protein, with exocyst protein Exo70. (PMID: 15705715) Xu KF ā€¦ Vaughan M (Proceedings of the National Academy of Sciences of the United States of America 2005) 3 23
  3. Rab11-FIP3 and FIP4 interact with Arf6 and the exocyst to control membrane traffic in cytokinesis. (PMID: 16148947) Fielding AB ā€¦ Gould GW (The EMBO journal 2005) 3 4
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T ā€¦ Sugano S (Nature genetics 2004) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS ā€¦ MGC Project Team (Genome research 2004) 3 4

ExternalLinks

View latest publications for EXOC7 gene in Mastermind

Products for EXOC7 Gene

  • Addgene plasmids for EXOC7

Sources for EXOC7 Gene