• Gene id: 2017

Gene Summary

• Gene Symbol: CTTN   Gene   UCSC   Ensembl
• Aliases: EMS1
• Gene name: cortactin
• Alternate names: src substrate cortactin, 1110020L01Rik, amplaxin, ems1 sequence (mammary tumor and squamous cell carcinoma-associated (p80/85 src substrate), epididymis secretory sperm binding protein, oncogene EMS1,
• Gene location: 11q13.3 (70398505: 70436583)     Exons: 20     NC_000011.10
• Gene summary(Entrez): This gene is overexpressed in breast cancer and squamous cell carcinomas of the head and neck. The encoded protein is localized in the cytoplasm and in areas of the cell-substratum contacts. This gene has two roles: (1) regulating the interactions between
• OMIM: 164765

Protein Summary

• Protein general information: Q14247  
  • Name: Src substrate cortactin (Amplaxin) (Oncogene EMS1)
  • Length: 550  
  • Mass: 61586
• Sequence:

  MWKASAGHAVSIAQDDAGADDWETDPDFVNDVSEKEQRWGAKTVQGSGHQEHINIHKLRENVFQEHQTLKEKELE
  TGPKASHGYGGKFGVEQDRMDKSAVGHEYQSKLSKHCSQVDSVRGFGGKFGVQMDRVDQSAVGFEYQGKTEKHAS
  QKDYSSGFGGKYGVQADRVDKSAVGFDYQGKTEKHESQRDYSKGFGGKYGIDKDKVDKSAVGFEYQGKTEKHESQ
  KDYVKGFGGKFGVQTDRQDKCALGWDHQEKLQLHESQKDYKTGFGGKFGVQSERQDSAAVGFDYKEKLAKHESQQ
  DYSKGFGGKYGVQKDRMDKNASTFEDVTQVSSAYQKTVPVEAVTSKTSNIRANFENLAKEKEQEDRRKAEAERAQ
  RMAKERQEQEEARRKLEEQARAKTQTPPVSPAPQPTEERLPSSPVYEDAASFKAELSYRGPVSGTEPEPVYSMEA
  ADYREASSQQGLAYATEAVYESAEAPGHYPAEDSTYDEYENDLGITAVALYDYQAAGDDEISFDPDDIITNIEMI
  DDGWWRGVCKGRYGLFPANYVELRQ

• Structural information:
  • Protein Domains: (492..55-)
    (/note="SH3-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00192"-)
  • Interpro: IPR015503  IPR035716  IPR003134  IPR036028  IPR001452  
  • Prosite: PS51090 PS50002
  • CDD: cd11959
  • PDB: 1X69 2D1X
  • PDBsum: 1X69 2D1X
  • DIP: 33190
• Other Databases: GeneCards:  CTTN  Malacards:  CTTN

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005938	cell cortex	IDA	cellular component
GO:0098974	postsynaptic actin cytoskeleton organization	IBA	biological process
GO:0061003	positive regulation of dendritic spine morphogenesis	IBA	biological process
GO:0051015	actin filament binding	IBA	molecular function
GO:0045773	positive regulation of axon extension	IBA	biological process
GO:0030425	dendrite	IBA	cellular component
GO:0048812	neuron projection morphogenesis	IBA	biological process
GO:0045211	postsynaptic membrane	IBA	cellular component
GO:0030864	cortical actin cytoskeleton	IBA	cellular component
GO:0030833	regulation of actin filament polymerization	IBA	biological process
GO:0030427	site of polarized growth	IBA	cellular component
GO:0030027	lamellipodium	IBA	cellular component
GO:0014069	postsynaptic density	IBA	cellular component
GO:0008076	voltage-gated potassium channel complex	IBA	colocalizes with
GO:0005886	plasma membrane	IBA	cellular component
GO:0005884	actin filament	IBA	colocalizes with
GO:0005884	actin filament	IDA	colocalizes with
GO:0030027	lamellipodium	IDA	cellular component
GO:0008076	voltage-gated potassium channel complex	IDA	colocalizes with
GO:0030863	cortical cytoskeleton	IDA	cellular component
GO:0005905	clathrin-coated pit	ISS	cellular component
GO:0097581	lamellipodium organization	ISS	biological process
GO:0048870	cell motility	ISS	biological process
GO:0048041	focal adhesion assembly	ISS	biological process
GO:0006898	receptor-mediated endocytosis	ISS	biological process
GO:0030426	growth cone	ISS	colocalizes with
GO:0048812	neuron projection morphogenesis	ISS	biological process
GO:0030516	regulation of axon extension	ISS	biological process
GO:0031532	actin cytoskeleton reorganization	ISS	biological process
GO:0030838	positive regulation of actin filament polymerization	ISS	biological process
GO:0006886	intracellular protein transport	IMP	biological process
GO:0030041	actin filament polymerization	IEA	biological process
GO:0030054	cell junction	IEA	cellular component
GO:0005905	clathrin-coated pit	IEA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0006897	endocytosis	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005856	cytoskeleton	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0061024	membrane organization	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0001726	ruffle	IEA	cellular component
GO:0002102	podosome	IEA	cellular component
GO:0005938	cell cortex	IEA	cellular component
GO:1903146	regulation of autophagy of mitochondrion	IEA	biological process
GO:1990023	mitotic spindle midzone	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0006886	intracellular protein transport	IEA	biological process
GO:0006930	substrate-dependent cell migration, cell extension	IEA	biological process
GO:0008076	voltage-gated potassium channel complex	IEA	cellular component
GO:0030027	lamellipodium	IEA	cellular component
GO:0097062	dendritic spine maintenance	IEA	biological process
GO:2001237	negative regulation of extrinsic apoptotic signaling pathway	IEA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0030027	lamellipodium	IDA	cellular component
GO:0045296	cadherin binding	HDA	molecular function
GO:0043197	dendritic spine	IEA	cellular component
GO:0030027	lamellipodium	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005925	focal adhesion	IEA	cellular component
GO:0005905	clathrin-coated pit	IEA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0005938	cell cortex	IEA	cellular component
GO:0030425	dendrite	IEA	cellular component
GO:0001726	ruffle	IEA	cellular component
GO:0002102	podosome	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005938	cell cortex	IDA	cellular component
GO:0030027	lamellipodium	ISS	cellular component
GO:0005938	cell cortex	ISS	cellular component
GO:0001726	ruffle	ISS	cellular component
GO:0005737	cytoplasm	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005925	focal adhesion	HDA	cellular component
GO:0005522	profilin binding	IPI	molecular function
GO:0030838	positive regulation of actin filament polymerization	IMP	biological process
GO:0045987	positive regulation of smooth muscle contraction	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa05131	Shigellosis
hsa05130	Pathogenic Escherichia coli infection
hsa05205	Proteoglycans in cancer
hsa04530	Tight junction
hsa05100	Bacterial invasion of epithelial cells

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq