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 ... See more...

Aliases for EXOC5 Gene

Aliases for EXOC5 Gene

  • Exocyst Complex Component 5 2 3 4 5
  • SEC10 2 3 4
  • Exocyst Complex Component Sec10 3 4
  • SEC10L1 3 4
  • SEC10P 2 3
  • SEC10 (S. Cerevisiae)-Like 1 2
  • SEC10-Like 1 (S. Cerevisiae) 2
  • SEC10-Like 1 3
  • PRO1912 3
  • HSEC10 3
  • HSec10 4
  • EXOC5 5

External Ids for EXOC5 Gene

Previous HGNC Symbols for EXOC5 Gene

  • SEC10L1

Previous GeneCards Identifiers for EXOC5 Gene

  • GC14M056740
  • GC14M057669
  • GC14M037833

Summaries for EXOC5 Gene

Entrez Gene Summary for EXOC5 Gene

  • 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. [provided by RefSeq, Jul 2008]

GeneCards Summary for EXOC5 Gene

EXOC5 (Exocyst Complex Component 5) is a Protein Coding gene. Diseases associated with EXOC5 include Meckel Syndrome, Type 1 and Nephronophthisis. Among its related pathways are Vesicle-mediated transport and Insulin Pathway. Gene Ontology (GO) annotations related to this gene include protein N-terminus binding and Ral GTPase binding.

UniProtKB/Swiss-Prot Summary for EXOC5 Gene

  • Component of the exocyst complex involved in the docking of exocytic vesicles with fusion sites on the plasma membrane.

Gene Wiki entry for EXOC5 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for EXOC5 Gene

Genomics for EXOC5 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for EXOC5 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
GH14J057264 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 250.7 +0.9 931 6.9 BCLAF1 ZNF207 MYC IKZF1 ZNF600 ZNF580 ATF2 KLF9 POLR2A ZIC2 AP5M1 EXOC5 HSALNG0101564-001 HSALNG0101564-002 NAA30 lnc-CCDC198-3 OTX2
GH14J057382 Enhancer 0.7 Ensembl ENCODE 10 -113.5 -113496 3.6 USF2 ZNF146 JUND ZNF3 BHLHE40 ZNF366 TCF7 FOS ZNF512 CEBPB AP5M1 EXOC5 NAA30 lnc-EXOC5-2
GH14J057290 Enhancer 0.6 UCNEbase ENCODE 11.7 -21.8 -21775 1.1 EZH2 EXOC5 AP5M1 HSALNG0101569 HSALNG0101571 NAA30
GH14J057293 Enhancer 0.3 Ensembl 11.2 -25.2 -25196 0.2 CTCF RAD21 EXOC5 AP5M1 HSALNG0101569 HSALNG0101571 NAA30
GH14J057375 Enhancer 0.4 Ensembl 9.7 -106.8 -106795 0.2 NFE2 ZBTB21 ZNF629 AP5M1 EXOC5 lnc-EXOC5-2 NAA30
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around EXOC5 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for EXOC5

Top Transcription factor binding sites by QIAGEN in the EXOC5 gene promoter:
  • AML1a
  • LUN-1
  • Meis-1
  • Meis-1a
  • Meis-1b
  • Pax-5
  • POU2F1
  • POU2F1a

Genomic Locations for EXOC5 Gene

Latest Assembly
chr14:57,200,507-57,268,905
(GRCh38/hg38)
Size:
68,399 bases
Orientation:
Minus strand

Previous Assembly
chr14:57,667,225-57,735,623
(GRCh37/hg19 by Entrez Gene)
Size:
68,399 bases
Orientation:
Minus strand

chr14:57,670,518-57,735,726
(GRCh37/hg19 by Ensembl)
Size:
65,209 bases
Orientation:
Minus strand

Genomic View for EXOC5 Gene

Genes around EXOC5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EXOC5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EXOC5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EXOC5 Gene

Proteins for EXOC5 Gene

  • Protein details for EXOC5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O00471-EXOC5_HUMAN
    Recommended name:
    Exocyst complex component 5
    Protein Accession:
    O00471
    Secondary Accessions:
    • B2R6C5
    • Q8IW24

    Protein attributes for EXOC5 Gene

    Size:
    708 amino acids
    Molecular mass:
    81853 Da
    Quaternary structure:
    • The exocyst complex is composed of EXOC1, EXOC2, EXOC3, EXOC4, EXOC5, EXOC6, EXOC7 and EXOC8 (By similarity). Interacts with EXOC3L1 (By similarity).

neXtProt entry for EXOC5 Gene

Post-translational modifications for EXOC5 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for EXOC5 Gene

Antibodies for research

  • Boster Bio Antibodies for EXOC5
  • Santa Cruz Biotechnology (SCBT) Antibodies for EXOC5

No data available for DME Specific Peptides for EXOC5 Gene

Domains & Families for EXOC5 Gene

Gene Families for EXOC5 Gene

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

Protein Domains for EXOC5 Gene

InterPro:
Blocks:
  • Exocyst complex component Sec10

Suggested Antigen Peptide Sequences for EXOC5 Gene

GenScript: Design optimal peptide antigens:
  • Exocyst complex component Sec10 (EXOC5_HUMAN)
  • Exocyst complex component 5 (Q8IW24_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O00471

UniProtKB/Swiss-Prot:

EXOC5_HUMAN :
  • Belongs to the SEC10 family.
Family:
  • Belongs to the SEC10 family.
genes like me logo Genes that share domains with EXOC5: view

Function for EXOC5 Gene

Molecular function for EXOC5 Gene

UniProtKB/Swiss-Prot Function:
Component of the exocyst complex involved in the docking of exocytic vesicles with fusion sites on the plasma membrane.

Phenotypes From GWAS Catalog for EXOC5 Gene

Gene Ontology (GO) - Molecular Function for EXOC5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 21516116
GO:0031267 small GTPase binding IPI 24056301
GO:0047485 protein N-terminus binding IEA --
genes like me logo Genes that share ontologies with EXOC5: view
genes like me logo Genes that share phenotypes with EXOC5: view

Animal Models for research

  • Taconic Biosciences Mouse Models for EXOC5

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EXOC5

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for EXOC5 Gene

Localization for EXOC5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EXOC5 Gene

Cytoplasm. Midbody. Note=Localization at the midbody requires the presence of RALA, EXOC2 and EXOC3. {ECO:0000269 PubMed:18756269}.

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 EXOC5 gene
Compartment Confidence
cytosol 5
plasma membrane 3
cytoskeleton 2
mitochondrion 2
nucleus 2
endosome 2
golgi apparatus 2
extracellular 1
peroxisome 1
endoplasmic reticulum 1
lysosome 1

Gene Ontology (GO) - Cellular Components for EXOC5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000145 exocyst IEA,IBA 21873635
GO:0005737 cytoplasm IEA,TAS 9119050
GO:0005829 cytosol IEA,TAS --
GO:0030496 midbody IEA --
genes like me logo Genes that share ontologies with EXOC5: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for EXOC5 Gene

Pathways & Interactions for EXOC5 Gene

genes like me logo Genes that share pathways with EXOC5: view

Pathways by source for EXOC5 Gene

1 KEGG pathway for EXOC5 Gene
2 Qiagen pathways for EXOC5 Gene
  • CDC42 Pathway
  • Epithelial Tight Junctions

Gene Ontology (GO) - Biological Process for EXOC5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001736 establishment of planar polarity IEA --
GO:0006887 exocytosis IEA,IBA 21873635
GO:0006892 post-Golgi vesicle-mediated transport TAS 9119050
GO:0006893 Golgi to plasma membrane transport IBA 21873635
GO:0015031 protein transport IEA --
genes like me logo Genes that share ontologies with EXOC5: view

No data available for SIGNOR curated interactions for EXOC5 Gene

Drugs & Compounds for EXOC5 Gene

No Compound Related Data Available

Transcripts for EXOC5 Gene

mRNA/cDNA for EXOC5 Gene

1 REFSEQ mRNAs :
18 NCBI additional mRNA sequence :
11 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 EXOC5

Alternative Splicing Database (ASD) splice patterns (SP) for EXOC5 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18
SP1: -
SP2: - -
SP3:

Relevant External Links for EXOC5 Gene

GeneLoc Exon Structure for
EXOC5

Expression for EXOC5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for EXOC5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Testis (Reproductive System)

Protein differential expression in normal tissues from HIPED for EXOC5 Gene

This gene is overexpressed in Bone (48.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for EXOC5 Gene



Protein tissue co-expression partners for EXOC5 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for EXOC5

SOURCE GeneReport for Unigene cluster for EXOC5 Gene:

Hs.743987

mRNA Expression by UniProt/SwissProt for EXOC5 Gene:

O00471-EXOC5_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for EXOC5 Gene

  • Nervous system(4.9)
  • Eye(3.3)
  • Kidney(2.4)
  • Skin(2.2)
  • Adrenal gland(2)
genes like me logo Genes that share expression patterns with EXOC5: view

Primer products for research

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for EXOC5 Gene

Orthologs for EXOC5 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for EXOC5 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia EXOC5 29 30
  • 99.2 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia EXOC5 30
  • 97 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia EXOC5 29 30
  • 95.39 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia EXOC5 30
  • 95 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia EXOC5 29 30
  • 94.92 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Exoc5 29 16 30
  • 92.23 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Exoc5 29
  • 91.53 (n)
Chicken
(Gallus gallus)
Aves EXOC5 29 30
  • 84.96 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia EXOC5 30
  • 86 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia exoc5 29
  • 79.43 (n)
Str.1996 29
African clawed frog
(Xenopus laevis)
Amphibia Xl.6619 29
Zebrafish
(Danio rerio)
Actinopterygii exoc5 29 30
  • 72.88 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta sec10 29 30
  • 51.87 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004147 29
  • 51.04 (n)
Worm
(Caenorhabditis elegans)
Secernentea sec-10 29 30
  • 50.36 (n)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SEC10 29 30 32
  • 44.89 (n)
OneToOne
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D18260g 29
  • 42.49 (n)
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AGL130C 29
  • 42.15 (n)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons SEC10 29
  • 42.12 (n)
Rice
(Oryza sativa)
Liliopsida Os12g0238100 29
  • 43.01 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.2378 30
  • 48 (a)
OneToOne
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes sec10 29
  • 39.38 (n)
Bread mold
(Neurospora crassa)
Ascomycetes NCU09313 29
  • 38.74 (n)
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.5751 29
Species where no ortholog for EXOC5 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • 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 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)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for EXOC5 Gene

ENSEMBL:
Gene Tree for EXOC5 (if available)
TreeFam:
Gene Tree for EXOC5 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for EXOC5: view image
Alliance of Genome Resources:
Additional Orthologs for EXOC5

Paralogs for EXOC5 Gene

(1) SIMAP similar genes for EXOC5 Gene using alignment to 5 proteins:

  • EXOC5_HUMAN
  • F8W9B8_HUMAN
  • G3V377_HUMAN
  • G3V4Z7_HUMAN
  • Q8IW24_HUMAN

Pseudogenes.org Pseudogenes for EXOC5 Gene

genes like me logo Genes that share paralogs with EXOC5: view

No data available for Paralogs for EXOC5 Gene

Variants for EXOC5 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for EXOC5 Gene

SNP ID Clinical significance and condition Chr 14 pos Variation AA Info Type
rs35132458 -- p.Glu10Asp

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for EXOC5 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 EXOC5 Gene

Variant ID Type Subtype PubMed ID
nsv1046422 CNV gain 25217958
nsv1138303 CNV deletion 24896259
nsv977472 CNV duplication 23825009

Variation tolerance for EXOC5 Gene

Residual Variation Intolerance Score: 57.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.69; 46.16% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for EXOC5 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
EXOC5
Leiden Open Variation Database (LOVD)
EXOC5

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EXOC5 Gene

Disorders for EXOC5 Gene

MalaCards: The human disease database

(3) MalaCards diseases for EXOC5 Gene - From: COP

Disorder Aliases PubMed IDs
meckel syndrome, type 1
  • mks1
nephronophthisis
  • medullary cystic disease
bardet-biedl syndrome
  • bbs
- elite association - COSMIC cancer census association via MalaCards
Search EXOC5 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for EXOC5

Human Genome Epidemiology Navigator
(HuGE)
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 EXOC5: view

No data available for UniProtKB/Swiss-Prot and Genatlas for EXOC5 Gene

Publications for EXOC5 Gene

  1. Identification and characterization of homologues of the Exocyst component Sec10p. (PMID: 9119050) Guo W … Novick P (FEBS letters 1997) 2 3 4 22
  2. Association between single-nucleotide polymorphisms in the SEC8L1 gene, which encodes a subunit of the exocyst complex, and rheumatoid arthritis in a Japanese population. (PMID: 15880602) Hamada D … Itakura M (Arthritis and rheumatism 2005) 3 40
  3. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  4. Interactome Mapping Provides a Network of Neurodegenerative Disease Proteins and Uncovers Widespread Protein Aggregation in Affected Brains. (PMID: 32814053) Haenig C … Wanker EE (Cell reports 2020) 3
  5. A protein-interaction network of interferon-stimulated genes extends the innate immune system landscape. (PMID: 30833792) Hubel P … Pichlmair A (Nature immunology 2019) 3

Products for EXOC5 Gene

Sources for EXOC5 Gene