Human Gene CTTN (uc001opu.3) Description and Page Index
  Description: Homo sapiens cortactin (CTTN), transcript variant 3, mRNA.
RefSeq Summary (NM_001184740): 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 components of adherens-type junctions and (2) organizing the cytoskeleton and cell adhesion structures of epithelia and carcinoma cells. During apoptosis, the encoded protein is degraded in a caspase-dependent manner. The aberrant regulation of this gene contributes to tumor cell invasion and metastasis. Three splice variants that encode different isoforms have been identified for this gene. [provided by RefSeq, May 2010].
Transcript (Including UTRs)
   Position: hg19 chr11:70,244,612-70,282,690 Size: 38,079 Total Exon Count: 19 Strand: +
Coding Region
   Position: hg19 chr11:70,253,404-70,282,514 Size: 29,111 Coding Exon Count: 17 

Page IndexSequence and LinksGenetic AssociationsMalaCardsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesmRNA Descriptions
PathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:70,244,612-70,282,690)mRNA (may differ from genome)Protein (634 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsH-INV
HGNCLynxMGIOMIMPubMedReactome
Stanford SOURCETreefamUniProtKBWikipedia

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): CTTN
CDC HuGE Published Literature: CTTN
Positive Disease Associations: Stroke
Related Studies:
  1. Stroke
    , , . [PubMed 0]

-  MalaCards Disease Associations
  MalaCards Gene Search: CTTN
Diseases sorted by gene-association score: ethmoid sinus cancer (15), ethmoid sinus adenocarcinoma (15), squamous cell carcinoma (10), ampulla of vater adenocarcinoma (10), shigellosis (9), spherocytosis, type 1 (9), squamous cell carcinoma, head and neck (8), salivary gland adenoid cystic carcinoma (7), bone squamous cell carcinoma (7), deafness, autosomal recessive 63 (5), breast cancer (4), wiskott-aldrich syndrome (4), hepatocellular carcinoma (3), oral squamous cell carcinoma (2), ovarian cancer, somatic (1), hereditary spherocytosis (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 87.14 RPKM in Uterus
Total median expression: 2782.80 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -76.20206-0.370 Picture PostScript Text
3' UTR -38.00176-0.216 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  Pfam Domains:
PF00018 - SH3 domain
PF02218 - Repeat in HS1/Cortactin
PF14604 - Variant SH3 domain

SCOP Domains:
50044 - SH3-domain

ModBase Predicted Comparative 3D Structure on Q14247-2
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Descriptions from all associated GenBank mRNAs
  LF384320 - JP 2014500723-A/191823: Polycomb-Associated Non-Coding RNAs.
AK222613 - Homo sapiens mRNA for cortactin isoform a variant, clone: CAS11810.
AK291097 - Homo sapiens cDNA FLJ77423 complete cds, highly similar to Homo sapiens cortactin (CTTN), transcript variant 2, mRNA.
BC033889 - Homo sapiens cortactin, mRNA (cDNA clone MGC:33091 IMAGE:4824206), complete cds.
GQ900949 - Homo sapiens clone HEL-T-61 epididymis secretory sperm binding protein mRNA, complete cds.
M98343 - Homo sapiens amplaxin (EMS1) mRNA, complete cds.
BC008799 - Homo sapiens cortactin, mRNA (cDNA clone MGC:3591 IMAGE:3637586), complete cds.
CU679115 - Synthetic construct Homo sapiens gateway clone IMAGE:100020717 5' read CTTN mRNA.
AB527287 - Synthetic construct DNA, clone: pF1KB3103, Homo sapiens CTTN gene for cortactin, without stop codon, in Flexi system.
EU832619 - Synthetic construct Homo sapiens clone HAIB:100067648; DKFZo008B0431 cortactin protein (CTTN) gene, encodes complete protein.
EU832691 - Synthetic construct Homo sapiens clone HAIB:100067720; DKFZo004B0432 cortactin protein (CTTN) gene, encodes complete protein.
KJ896765 - Synthetic construct Homo sapiens clone ccsbBroadEn_06159 CTTN gene, encodes complete protein.
MA619897 - JP 2018138019-A/191823: Polycomb-Associated Non-Coding RNAs.
JD194341 - Sequence 175365 from Patent EP1572962.
JD171465 - Sequence 152489 from Patent EP1572962.
AK023333 - Homo sapiens cDNA FLJ13271 fis, clone OVARC1001000.
LF370887 - JP 2014500723-A/178390: Polycomb-Associated Non-Coding RNAs.
LF370886 - JP 2014500723-A/178389: Polycomb-Associated Non-Coding RNAs.
LN607836 - Homo sapiens partial mRNA for cortactin (CTTN gene).
AK304582 - Homo sapiens cDNA FLJ54828 complete cds, highly similar to Src substrate cortactin.
AK091778 - Homo sapiens cDNA FLJ34459 fis, clone HLUNG2002916, highly similar to SRC SUBSTRATE CORTACTIN.
JD110889 - Sequence 91913 from Patent EP1572962.
JD532895 - Sequence 513919 from Patent EP1572962.
MA606464 - JP 2018138019-A/178390: Polycomb-Associated Non-Coding RNAs.
MA606463 - JP 2018138019-A/178389: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04530 - Tight junction
hsa05100 - Bacterial invasion of epithelial cells
hsa05130 - Pathogenic Escherichia coli infection
hsa05131 - Shigellosis

BioCarta from NCI Cancer Genome Anatomy Project
h_agrPathway - Agrin in Postsynaptic Differentiation

Reactome (by CSHL, EBI, and GO)

Protein Q14247 (Reactome details) participates in the following event(s):

R-HSA-442832 PAK phosphorylates cortactin
R-HSA-8868230 SNX9 recruits components of the actin polymerizing machinery
R-HSA-8868236 BAR domain proteins recruit dynamin
R-HSA-8871194 RAB5 and GAPVD1 bind AP-2
R-HSA-8868658 HSPA8-mediated ATP hydrolysis promotes vesicle uncoating
R-HSA-8868659 Clathrin recruits auxilins to the clathrin-coated vesicle
R-HSA-8868661 Dynamin-mediated GTP hydrolysis promotes vesicle scission
R-HSA-8868660 Auxilin recruits HSPA8:ATP to the clathrin-coated vesicle
R-HSA-8868648 SYNJ hydrolyze PI(4,5)P2 to PI(4)P
R-HSA-8868651 Endophilins recruit synaptojanins to the clathrin-coated pit
R-HSA-5627123 RHO GTPases activate PAKs
R-HSA-8856828 Clathrin-mediated endocytosis
R-HSA-195258 RHO GTPase Effectors
R-HSA-199991 Membrane Trafficking
R-HSA-194315 Signaling by Rho GTPases
R-HSA-5653656 Vesicle-mediated transport
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: EMS1, NM_001184740, NP_001171669, Q14247-2
UCSC ID: uc001opu.3
RefSeq Accession: NM_001184740
Protein: Q14247-2, splice isoform of Q14247 CCDS: CCDS53676.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001184740.1
exon count: 19CDS single in 3' UTR: no RNA size: 2325
ORF size: 1905CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 3585.50frame shift in genome: no % Coverage: 98.37
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.