• Gene id: 11336

Gene Summary

• Gene Symbol: EXOC3   Gene   UCSC   Ensembl
• Aliases: SEC6, SEC6L1, Sec6p
• Gene name: exocyst complex component 3
• Alternate names: exocyst complex component 3, SEC6-like 1, Sec 6 homolog, exocyst complex component Sec6,
• Gene location: 5p15.33 (443175: 467289)     Exons: 8     NC_000005.10
• Gene summary(Entrez): 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 f
• OMIM: 608186

SNPs

rs11749327

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000005.10   g.457146C>A
NC_000005.9   g.457261C>A|SEQ=[C/A]|GENE=EXOC3

Protein Summary

• Protein general information: O60645  
  • Name: Exocyst complex component 3 (Exocyst complex component Sec6)
  • Length: 745  
  • Mass: 85567
  • Tissue specificity: Expressed in epididymis (at protein level). {ECO
• Sequence:

  MKETDREAVATAVQRVAGMLQRPDQLDKVEQYRRREARKKASVEARLKAAIQSQLDGVRTGLSQLHNALNDVKDI
  QQSLADVSKDWRQSINTIESLKDVKDAVVQHSQLAAAVENLKNIFSVPEIVRETQDLIEQGALLQAHRKLMDLEC
  SRDGLMYEQYRMDSGNTRDMTLIHGYFGSTQGLSDELAKQLWMVLQRSLVTVRRDPTLLVSVVRIIEREEKIDRR
  ILDRKKQTGFVPPGRPKNWKEKMFTILERTVTTRIEGTQADTRESDKMWLVRHLEIIRKYVLDDLIVAKNLMVQC
  FPPHYEIFKNLLNMYHQALSTRMQDLASEDLEANEIVSLLTWVLNTYTSTEMMRNVELAPEVDVGTLEPLLSPHV
  VSELLDTYMSTLTSNIIAWLRKALETDKKDWVKETEPEADQDGYYQTTLPAIVFQMFEQNLQVAAQISEDLKTKV
  LVLCLQQMNSFLSRYKDEAQLYKEEHLRNRQHPHCYVQYMIAIINNCQTFKESIVSLKRKYLKNEVEEGVSPSQP
  SMDGILDAIAKEGCSGLLEEVFLDLEQHLNELMTKKWLLGSNAVDIICVTVEDYFNDFAKIKKPYKKRMTAEAHR
  RVVVEYLRAVMQKRISFRSPEERKEGAEKMVREAEQLRFLFRKLASGFGEDVDGYCDTIVAVAEVIKLTDPSLLY
  LEVSTLVSKYPDIRDDHIGALLAVRGDASRDMKQTIMETLEQGPAQASPSYVPLFKDIVVPSLNVAKLLK

• Structural information:
  • Interpro: IPR010326  IPR042532  
  • STRING: ENSP00000425587
• Other Databases: GeneCards:  EXOC3  Malacards:  EXOC3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0051601	exocyst localization	IBA	biological process
GO:0006887	exocytosis	IBA	biological process
GO:0000149	SNARE binding	IBA	molecular function
GO:0000145	exocyst	IBA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0000145	exocyst	IEA	cellular component
GO:0006887	exocytosis	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0006887	exocytosis	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0030667	secretory granule membrane	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0042734	presynaptic membrane	IEA	cellular component
GO:0045296	cadherin binding	HDA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0043005	neuron projection	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0030426	growth cone	IEA	cellular component
GO:0030496	midbody	IEA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Hypospadias	MIK: 25108383
Hypospermatogenesis	MIK: 28361989
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray
25108383	Hypospadias	rs11749327		1,006 boys who underwent surgery for hypospadias and 5,486 individuals (2,390 males and 3,096 females)	Male infertility	GWAS