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Aliases for EXOC6 Gene

Aliases for EXOC6 Gene

  • Exocyst Complex Component 6 2 3 4 5
  • Exocyst Complex Component Sec15A 3 4
  • SEC15L1 3 4
  • SEC15L 3 4
  • SEC15-Like 1 (S. Cerevisiae) 2
  • SEC15-Like Protein 3 3
  • SEC15-Like Protein 1 4
  • Rsec15-Like Protein 3
  • SEC15-Like 1 3
  • SEC15L3 3
  • EXOC6A 3
  • Sec15p 3
  • SEC15A 4
  • SEC15 3

External Ids for EXOC6 Gene

Previous HGNC Symbols for EXOC6 Gene

  • SEC15L1

Previous GeneCards Identifiers for EXOC6 Gene

  • GC10P094599
  • GC10P088221

Summaries for EXOC6 Gene

Entrez Gene Summary for EXOC6 Gene

  • The protein encoded by this gene is highly similar to the Saccharomyces cerevisiae SEC15 gene product, which is essential for vesicular traffic from the Golgi apparatus to the cell surface in yeast. It is one of the components of a multiprotein complex required for exocytosis. The 5' portion of this gene and two neighboring cytochrome p450 genes are included in a deletion that results in an autosomal-dominant form of nonsyndromic optic nerve aplasia (ONA). Alternative splicing and the use of alternative promoters results in multiple transcript variants. A paralogous gene encoding a similar protein is present on chromosome 2. [provided by RefSeq, Jan 2016]

GeneCards Summary for EXOC6 Gene

EXOC6 (Exocyst Complex Component 6) is a Protein Coding gene. Diseases associated with EXOC6 include Bardet-Biedl Syndrome 18. Among its related pathways are Cargo trafficking to the periciliary membrane and Vesicle-mediated transport. An important paralog of this gene is EXOC6B.

UniProtKB/Swiss-Prot for EXOC6 Gene

  • Component of the exocyst complex involved in the docking of exocytic vesicles with fusion sites on the plasma membrane. Together with RAB11A, RAB3IP, RAB8A, PARD3, PRKCI, ANXA2, CDC42 and DNMBP promotes transcytosis of PODXL to the apical membrane initiation sites (AMIS), apical surface formation and lumenogenesis (By similarity).

Additional gene information for EXOC6 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EXOC6 Gene

Genomics for EXOC6 Gene

GeneHancer (GH) Regulatory Elements for EXOC6 Gene

Promoters and enhancers for EXOC6 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10J092699 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 600.1 -134.8 -134812 1.4 ZNF384 SP1 PRDM1 SMARCA4 IKZF1 ZNF512 ZIC2 ATF1 ZEB2 PKNOX1 EXOC6 EIF2S2P3 HHEX GC10M092666 ENSG00000201412 GC10M092712
GH10J092829 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 600.7 -1.5 -1526 7.2 MLLT1 CSDE1 CDC5L BACH1 EGR1 ZNF639 SMARCA4 IKZF1 CAVIN1 GMEB1 EXOC6 PDE6C IDE KIF11 BTAF1 MARCH5 GC10M092798
GH10J092846 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 600.4 +13.8 13830 3.7 ZFX ELF3 NKRF CEBPG ZNF384 BACH1 ZBTB7A YY1 POLR2A PRDM1 EXOC6 HHEX ENSG00000225118
GH10J092867 Enhancer 0.8 Ensembl 18.2 +39.8 39788 15 ELF3 CTCF SP7 PRDM1 RAD21 PRDM10 ZNF512 REST TRIM22 ZNF24 EXOC6 MARK2P9 ENSG00000225118
GH10J093071 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE 5.7 +237.6 237588 1.4 ZFX ELF3 ZNF148 GTF2F1 SP1 SP5 EGR1 GMEB1 RXRA IKZF1 CYP26A1 ENSG00000279607 EXOC6 ENSG00000285846
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around EXOC6 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the EXOC6 gene promoter:
  • Cdc5
  • CUTL1
  • FOXO1
  • FOXO1a
  • Nkx6-1
  • POU2F1
  • POU2F1a

Genomic Locations for EXOC6 Gene

Genomic Locations for EXOC6 Gene
chr10:92,834,713-93,059,494
(GRCh38/hg38)
Size:
224,782 bases
Orientation:
Plus strand
chr10:94,590,935-94,819,251
(GRCh37/hg19)
Size:
228,317 bases
Orientation:
Plus strand

Genomic View for EXOC6 Gene

Genes around EXOC6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EXOC6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EXOC6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EXOC6 Gene

Proteins for EXOC6 Gene

  • Protein details for EXOC6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TAG9-EXOC6_HUMAN
    Recommended name:
    Exocyst complex component 6
    Protein Accession:
    Q8TAG9
    Secondary Accessions:
    • E9PHI3
    • Q5VXH8
    • Q9NZ24

    Protein attributes for EXOC6 Gene

    Size:
    804 amino acids
    Molecular mass:
    93722 Da
    Quaternary structure:
    • The exocyst complex is composed of EXOC1, EXOC2, EXOC3, EXOC4, EXOC5, EXOC6, EXOC7 and EXOC8 (By similarity). Interacts with CNTRL. Interacts with RAB11A in a GTP-dependent manner (By similarity).
    SequenceCaution:
    • Sequence=AAF37262.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for EXOC6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EXOC6 Gene

Post-translational modifications for EXOC6 Gene

  • Ubiquitination at isoforms=2462
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for EXOC6 Gene

Domains & Families for EXOC6 Gene

Gene Families for EXOC6 Gene

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

Protein Domains for EXOC6 Gene

Suggested Antigen Peptide Sequences for EXOC6 Gene

GenScript: Design optimal peptide antigens:
  • SEC15-like protein 3 (A5YP36_HUMAN)
  • SEC15-like protein 1 (EXOC6_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8TAG9

UniProtKB/Swiss-Prot:

EXOC6_HUMAN :
  • Belongs to the SEC15 family.
Family:
  • Belongs to the SEC15 family.
genes like me logo Genes that share domains with EXOC6: view

Function for EXOC6 Gene

Molecular function for EXOC6 Gene

UniProtKB/Swiss-Prot Function:
Component of the exocyst complex involved in the docking of exocytic vesicles with fusion sites on the plasma membrane. Together with RAB11A, RAB3IP, RAB8A, PARD3, PRKCI, ANXA2, CDC42 and DNMBP promotes transcytosis of PODXL to the apical membrane initiation sites (AMIS), apical surface formation and lumenogenesis (By similarity).

Phenotypes From GWAS Catalog for EXOC6 Gene

Gene Ontology (GO) - Molecular Function for EXOC6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25556234
genes like me logo Genes that share ontologies with EXOC6: view
genes like me logo Genes that share phenotypes with EXOC6: view

Animal Models for EXOC6 Gene

MGI Knock Outs for EXOC6:
  • Exoc6 Exoc6<tm1b(EUCOMM)Wtsi>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EXOC6

Clone Products

  • Applied Biological Materials (abm): Clones for EXOC6 - Now 50% OFF >
  • * EXOC6 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * EXOC6 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
  • Addgene plasmids for EXOC6

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for EXOC6 Gene

Localization for EXOC6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EXOC6 Gene

Cytoplasm. Cytoplasm, perinuclear region. Cell projection, growth cone. Midbody, Midbody ring. Note=Perinuclear in undifferentiated cells. Redistributes to growing neurites and growth cones during neuronal differentiation. Colocalizes with CNTRL/centriolin at the midbody ring (PubMed:16213214). {ECO:0000250 UniProtKB:O54923, 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 EXOC6 gene
Compartment Confidence
plasma membrane 4
cytosol 4
nucleus 3
cytoskeleton 1
peroxisome 1
endosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Vesicles (3)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for EXOC6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000145 exocyst IBA 21873635
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IBA 21873635
genes like me logo Genes that share ontologies with EXOC6: view

Pathways & Interactions for EXOC6 Gene

genes like me logo Genes that share pathways with EXOC6: view

Gene Ontology (GO) - Biological Process for EXOC6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006887 exocytosis IEA,IBA 21873635
GO:0006893 Golgi to plasma membrane transport IBA 21873635
GO:0006904 vesicle docking involved in exocytosis IEA --
GO:0015031 protein transport IEA --
genes like me logo Genes that share ontologies with EXOC6: view

No data available for SIGNOR curated interactions for EXOC6 Gene

Drugs & Compounds for EXOC6 Gene

No Compound Related Data Available

Transcripts for EXOC6 Gene

Unigene Clusters for EXOC6 Gene

Exocyst complex component 6:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EXOC6

Clone Products

  • Applied Biological Materials (abm): Clones for EXOC6 - Now 50% OFF >
  • * EXOC6 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * EXOC6 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
  • Addgene plasmids for EXOC6

Alternative Splicing Database (ASD) splice patterns (SP) for EXOC6 Gene

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

ExUns: 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23a · 23b
SP1: -
SP2: -
SP3:
SP4: -
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:

Relevant External Links for EXOC6 Gene

GeneLoc Exon Structure for
EXOC6
ECgene alternative splicing isoforms for
EXOC6

Expression for EXOC6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for EXOC6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for EXOC6 Gene

This gene is overexpressed in Whole Blood (x5.1).

Protein differential expression in normal tissues from HIPED for EXOC6 Gene

This gene is overexpressed in Bone (14.6), Peripheral blood mononuclear cells (9.3), and Breast (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for EXOC6 Gene



Protein tissue co-expression partners for EXOC6 Gene

NURSA nuclear receptor signaling pathways regulating expression of EXOC6 Gene:

EXOC6

SOURCE GeneReport for Unigene cluster for EXOC6 Gene:

Hs.655657

Evidence on tissue expression from TISSUES for EXOC6 Gene

  • Nervous system(4.8)
genes like me logo Genes that share expression patterns with EXOC6: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for EXOC6 Gene

Orthologs for EXOC6 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for EXOC6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia EXOC6 35 34
  • 99.63 (n)
OneToOne
dog
(Canis familiaris)
Mammalia EXOC6 35 34
  • 94.6 (n)
OneToOne
cow
(Bos Taurus)
Mammalia EXOC6 35 34
  • 94.35 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia EXOC6 35
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Exoc6 17 35 34
  • 88.75 (n)
rat
(Rattus norvegicus)
Mammalia Exoc6 34
  • 87.81 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia EXOC6 35
  • 86 (a)
OneToOne
chicken
(Gallus gallus)
Aves EXOC6 35 34
  • 83.07 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EXOC6 35
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia exoc6 34
  • 77.56 (n)
zebrafish
(Danio rerio)
Actinopterygii exoc6 35 34
  • 73.29 (n)
OneToOne
Dr.13869 34
fruit fly
(Drosophila melanogaster)
Insecta sec15 35
  • 42 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea sec-15 35
  • 37 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SEC15 37 35
  • 16 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3590 35
  • 51 (a)
OneToMany
Species where no ortholog for EXOC6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for EXOC6 Gene

ENSEMBL:
Gene Tree for EXOC6 (if available)
TreeFam:
Gene Tree for EXOC6 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for EXOC6: view image

Paralogs for EXOC6 Gene

Paralogs for EXOC6 Gene

(3) SIMAP similar genes for EXOC6 Gene using alignment to 6 proteins:

  • EXOC6_HUMAN
  • B1AP46_HUMAN
  • E7EW84_HUMAN
  • F2Z2Q3_HUMAN
  • F2Z3K0_HUMAN
  • H0Y5J8_HUMAN
genes like me logo Genes that share paralogs with EXOC6: view

Variants for EXOC6 Gene

Sequence variations from dbSNP and Humsavar for EXOC6 Gene

SNP ID Clin Chr 10 pos Variation AA Info Type
rs1000008465 -- 93,032,918(+) A/G genic_downstream_transcript_variant, intron_variant
rs1000018395 -- 92,858,325(+) T/A/C genic_upstream_transcript_variant, intron_variant
rs1000032412 -- 92,913,071(+) A/G intron_variant
rs1000038098 -- 93,038,427(+) A/G genic_downstream_transcript_variant, intron_variant
rs1000038172 -- 92,856,509(+) TCT/T genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for EXOC6 Gene

Variant ID Type Subtype PubMed ID
dgv1353n54 CNV loss 21841781
dgv954n100 CNV loss 25217958
esv1627699 CNV insertion 17803354
esv2336668 CNV deletion 18987734
esv2661106 CNV deletion 23128226
esv2739618 CNV deletion 23290073
esv3624230 CNV loss 21293372
esv3624232 CNV loss 21293372
esv3624233 CNV loss 21293372
esv997943 CNV insertion 20482838
nsv1039261 CNV loss 25217958
nsv1113329 CNV deletion 24896259
nsv24948 CNV insertion 16902084
nsv467434 CNV loss 19166990
nsv467435 CNV loss 19166990
nsv472622 CNV novel sequence insertion 20440878
nsv515937 CNV gain 19592680
nsv518124 CNV loss 19592680
nsv522103 CNV gain 19592680
nsv551940 CNV loss 21841781
nsv551943 CNV loss 21841781
nsv7493 CNV deletion 18451855
nsv950994 CNV duplication 24416366

Variation tolerance for EXOC6 Gene

Residual Variation Intolerance Score: 73.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.64; 72.68% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for EXOC6 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
EXOC6

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EXOC6 Gene

Disorders for EXOC6 Gene

MalaCards: The human disease database

(1) MalaCards diseases for EXOC6 Gene - From: DISEASES

Disorder Aliases PubMed IDs
bardet-biedl syndrome 18
  • bbs18
- elite association - COSMIC cancer census association via MalaCards
Search EXOC6 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for EXOC6

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with EXOC6: view

No data available for UniProtKB/Swiss-Prot and Genatlas for EXOC6 Gene

Publications for EXOC6 Gene

  1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 45 58
  2. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PMID: 16385451) Grupe A … Goate A (American journal of human genetics 2006) 3 45 58
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  4. Normalization and subtraction: two approaches to facilitate gene discovery. (PMID: 8889548) Bonaldo MF … Soares MB (Genome research 1996) 2 3 58
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58

Products for EXOC6 Gene

Sources for EXOC6 Gene

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