Human Gene CTTN (ENST00000301843.13_5) from GENCODE V47lift37
  Description: cortactin, transcript variant 1 (from RefSeq NM_005231.4)
Gencode Transcript: ENST00000301843.13_5
Gencode Gene: ENSG00000085733.16_9
Transcript (Including UTRs)
   Position: hg19 chr11:70,244,635-70,282,681 Size: 38,047 Total Exon Count: 18 Strand: +
Coding Region
   Position: hg19 chr11:70,253,404-70,281,268 Size: 27,865 Coding Exon Count: 16 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:70,244,635-70,282,681)mRNA (may differ from genome)Protein (550 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsHGNC
MalacardsMGIOMIMPubMedReactomeUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: SRC8_HUMAN
DESCRIPTION: RecName: Full=Src substrate cortactin; AltName: Full=Amplaxin; AltName: Full=Oncogene EMS1;
FUNCTION: Contributes to the organization of the actin cytoskeleton and cell structure. Plays a role in the regulation of cell migration. Plays a role in the invasiveness of cancer cells, and the formation of metastases.
SUBUNIT: Interacts with SHANK2 and SHANK3 (via its SH3 domain). Also interacts with FGD1. Identified in a complex containing FGFR4, NCAM1, CDH2, PLCG1, FRS2, SRC, SHC1, GAP43 and CTTN (By similarity). Interacts with PLXDC2 and SRCIN1. Interacts with SAMSN1 (via SH3 domain). Interacts (via SH3 domain) with ASAP1 (via Pro-rich region). Interacts with DNM2 and FER. Binds to MYLK. A complex made of ABL1, CTTN and MYLK regulates cortical actin- based cytoskeletal rearrangement critical to sphingosine 1- phosphate (S1P)-mediated endothelial cell (EC) barrier enhancement.
INTERACTION: Q9QWI6-2:Srcin1 (xeno); NbExp=2; IntAct=EBI-351886, EBI-775607; P42768:WAS; NbExp=3; IntAct=EBI-351886, EBI-346375;
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton. Cell projection, lamellipodium. Cell projection, ruffle. Note=Associated with membrane ruffles and lamellipodia.
DOMAIN: The SH3 motif may mediate binding to the cytoskeleton.
PTM: Phosphorylated by PKN2 at both serine and threonine residues in a GTP-bound Rac1-dependent manner in hyaluronan-induced astrocytes and hence down-regulated CTTN ability to associates with filamentous actin (By similarity). Phosphorylated by FER. Tyrosine phosphorylation in transformed cells may contribute to cellular growth regulation and transformation. Phosphorylated in response to FGR activation. Phosphorylation by SRC promotes MYLK binding.
SIMILARITY: Contains 7 cortactin repeats.
SIMILARITY: Contains 1 SH3 domain.
WEB RESOURCE: Name=Wikipedia; Note=Cortactin entry; URL="http://en.wikipedia.org/wiki/Cortactin";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  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 -64.80183-0.354 Picture PostScript Text
3' UTR -502.501413-0.356 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
  InterPro Domains: Graphical view of domain structure
IPR015503 - Cortactin
IPR003134 - Hs1_Cortactin
IPR000108 - p67phox
IPR001452 - SH3_domain

Pfam Domains:
PF00018 - SH3 domain
PF02218 - Repeat in HS1/Cortactin
PF07653 - Variant SH3 domain
PF14604 - Variant SH3 domain

SCOP Domains:
46689 - Homeodomain-like
50044 - SH3-domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1X69 - NMR MuPIT 2D1X - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q14247
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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 orthologNo orthologNo orthologNo orthologNo orthologGenome Browser
Gene DetailsGene Details   Gene Details
Gene SorterGene Sorter   Gene Sorter
 RGDEnsembl  SGD
     Protein Sequence
     Alignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0005522 profilin binding
GO:0045296 cadherin binding

Biological Process:
GO:0006886 intracellular protein transport
GO:0006897 endocytosis
GO:0006898 receptor-mediated endocytosis
GO:0006930 substrate-dependent cell migration, cell extension
GO:0030041 actin filament polymerization
GO:0030516 regulation of axon extension
GO:0030838 positive regulation of actin filament polymerization
GO:0031532 actin cytoskeleton reorganization
GO:0045987 positive regulation of smooth muscle contraction
GO:0048041 focal adhesion assembly
GO:0048812 neuron projection morphogenesis
GO:0048870 cell motility
GO:0061024 membrane organization
GO:0097062 dendritic spine maintenance
GO:0097581 lamellipodium organization
GO:1903146 regulation of mitophagy
GO:2001237 negative regulation of extrinsic apoptotic signaling pathway

Cellular Component:
GO:0001726 ruffle
GO:0002102 podosome
GO:0005737 cytoplasm
GO:0005794 Golgi apparatus
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0005886 plasma membrane
GO:0005905 clathrin-coated pit
GO:0005925 focal adhesion
GO:0005938 cell cortex
GO:0008076 voltage-gated potassium channel complex
GO:0016020 membrane
GO:0030027 lamellipodium
GO:0030054 cell junction
GO:0030425 dendrite
GO:0030863 cortical cytoskeleton
GO:0042995 cell projection
GO:0043197 dendritic spine
GO:0043231 intracellular membrane-bounded organelle
GO:1990023 mitotic spindle midzone
GO:0005884 actin filament
GO:0030426 growth cone


-  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.
JD380339 - Sequence 361363 from Patent EP1572962.
JD369367 - Sequence 350391 from Patent EP1572962.
JD530529 - Sequence 511553 from Patent EP1572962.
JD110889 - Sequence 91913 from Patent EP1572962.
JD256192 - Sequence 237216 from Patent EP1572962.
JD249269 - Sequence 230293 from Patent EP1572962.
JD519837 - Sequence 500861 from Patent EP1572962.
JD544131 - Sequence 525155 from Patent EP1572962.
JD217734 - Sequence 198758 from Patent EP1572962.
JD276813 - Sequence 257837 from Patent EP1572962.
JD454017 - Sequence 435041 from Patent EP1572962.
JD115052 - Sequence 96076 from Patent EP1572962.
JD255508 - Sequence 236532 from Patent EP1572962.
JD275585 - Sequence 256609 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
  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, ENST00000301843.1, ENST00000301843.10, ENST00000301843.11, ENST00000301843.12, ENST00000301843.2, ENST00000301843.3, ENST00000301843.4, ENST00000301843.5, ENST00000301843.6, ENST00000301843.7, ENST00000301843.8, ENST00000301843.9, NM_005231, Q14247, Q8N707, Q96H99, SRC8_HUMAN, uc317mxc.1, uc317mxc.2
UCSC ID: ENST00000301843.13_5
RefSeq Accession: NM_005231.4
Protein: Q14247 (aka SRC8_HUMAN)

-  Gene Model Information
  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.