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CTTN cortactin [ Homo sapiens (human) ]

Gene ID: 2017, updated on 23-Nov-2021

Summary

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Official Symbol
CTTNprovided by HGNC
Official Full Name
cortactinprovided by HGNC
Primary source
HGNC:HGNC:3338
See related
Ensembl:ENSG00000085733 MIM:164765
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
EMS1
Summary
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]
Expression
Ubiquitous expression in gall bladder (RPKM 41.5), adrenal (RPKM 38.4) and 25 other tissues See more
Orthologs
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Genomic context

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See CTTN in Genome Data Viewer
Location:
11q13.3
Exon count:
20
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (70398529..70436579)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (70244635..70282681)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105369373 Neighboring gene PTPRF interacting protein alpha 1 Neighboring gene uncharacterized LOC107984347 Neighboring gene Sharpr-MPRA regulatory region 1776 Neighboring gene SH3 and multiple ankyrin repeat domains 2 Neighboring gene Sharpr-MPRA regulatory region 3810 Neighboring gene SHANK2 antisense RNA 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Cortactin Expression is a Novel Biomarker for Risk Stratification of T-Cell Acute Lymphoblastic Leukemia. Aref S, et al. J Pediatr Hematol Oncol, 2021 Aug 1. PMID 33235155
  2. The HBx-CTTN interaction promotes cell proliferation and migration of hepatocellular carcinoma via CREB1. Li Y, et al. Cell Death Dis, 2019 May 28. PMID 31138777, Free PMC Article
  3. The Pathogenic Effect of Cortactin Tyrosine Phosphorylation in Cutaneous Squamous Cell Carcinoma. Zhu L, et al. In Vivo, 2019 Mar-Apr. PMID 30804117, Free PMC Article
  4. High cortactin expression in B-cell acute lymphoblastic leukemia is associated with increased transendothelial migration and bone marrow relapse. Velázquez-Avila M, et al. Leukemia, 2019 Jun. PMID 30573781, Free PMC Article
  5. Cortactin expression in non-Hodgkin B-cell lymphomas: a new marker for the differential diagnosis between chronic lymphocytic leukemia and mantle cell lymphoma. Pizzi M, et al. Hum Pathol, 2019 Mar. PMID 30458196

See all (349) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. CX3 CL1 promotes tumour cell by inducing tyrosine phosphorylation of cortactin in lung cancer.
    Title: CX<sub>3</sub> CL1 promotes tumour cell by inducing tyrosine phosphorylation of cortactin in lung cancer.
  2. Autoantibodies to cortactin and agrin in sera of patients with myasthenia gravis.
    Title: Autoantibodies to cortactin and agrin in sera of patients with myasthenia gravis.
  3. Cortactin Expression is a Novel Biomarker for Risk Stratification of T-Cell Acute Lymphoblastic Leukemia.
    Title: Cortactin Expression is a Novel Biomarker for Risk Stratification of T-Cell Acute Lymphoblastic Leukemia.
  4. Long Noncoding RNASBF2-AS1 Promotes Gastric Cancer Progression via Regulating miR-545/EMS1 Axis.
    Title: Long Noncoding RNASBF2-AS1 Promotes Gastric Cancer Progression via Regulating miR-545/EMS1 Axis.
  5. Quantitative acetylome and phosphorylome analysis reveals Girdin affects pancreatic cancer progression through regulating Cortactin.
    Title: Quantitative acetylome and phosphorylome analysis reveals Girdin affects pancreatic cancer progression through regulating Cortactin.
  6. Hypermethylation of UCHL1 Promotes Metastasis of Nasopharyngeal Carcinoma by Suppressing Degradation of Cortactin (CTTN).
    Title: Hypermethylation of <i>UCHL1</i> Promotes Metastasis of Nasopharyngeal Carcinoma by Suppressing Degradation of Cortactin (CTTN).
  7. Caspase-Mediated Cleavage of Human Cortactin during Influenza A Virus Infection Occurs in Its Actin-Binding Domains and Is Associated with Released Virus Titres.
    Title: Caspase-Mediated Cleavage of Human Cortactin during Influenza A Virus Infection Occurs in Its Actin-Binding Domains and Is Associated with Released Virus Titres.
  8. RAC1-Dependent ORAI1 Translocation to the Leading Edge Supports Lamellipodia Formation and Directional Persistence.
    Title: RAC1-Dependent ORAI1 Translocation to the Leading Edge Supports Lamellipodia Formation and Directional Persistence.
  9. CD44 mediates stem cell mobilization to damaged lung via its novel transcriptional targets, Cortactin and Survivin.
    Title: CD44 mediates stem cell mobilization to damaged lung <i>via</i> its novel transcriptional targets, Cortactin and Survivin.
  10. Cortactin (CTTN) is a novel Hepatitis B virus-encoded X protein (HBx)-interacting protein, and HBx regulates the expression of CTTN in the hepatocellular carcinoma cell lines MHCC-LM3 and HepG2.
    Title: The HBx-CTTN interaction promotes cell proliferation and migration of hepatocellular carcinoma via CREB1.
Submit: New GeneRIF Correction See all GeneRIFs (192)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Pr55(Gag) gag Cellular biotinylated cortactin (CTTN) protein is incorporated into HIV-1 Gag virus-like particles PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ34459

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables actin filament binding IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
enables cadherin binding HDA PubMed 
enables profilin binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in actin cytoskeleton reorganization ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in actin filament polymerization IEA
Inferred from Electronic Annotation
more info
  
involved_in cell motility ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in dendritic spine maintenance IEA
Inferred from Electronic Annotation
more info
  
involved_in focal adhesion assembly ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in intracellular protein transport IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in lamellipodium organization ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in negative regulation of extrinsic apoptotic signaling pathway IEA
Inferred from Electronic Annotation
more info
  
involved_in neuron projection morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in positive regulation of actin filament polymerization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of actin filament polymerization ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in positive regulation of smooth muscle contraction IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in receptor-mediated endocytosis ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in regulation of actin filament polymerization IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
involved_in regulation of autophagy of mitochondrion IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of axon extension ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in substrate-dependent cell migration, cell extension IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in Golgi apparatus IDA
Inferred from Direct Assay
more info
  
colocalizes_with actin filament IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
colocalizes_with actin filament IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cell cortex IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cell cortex ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in clathrin-coated pit ISS
Inferred from Sequence or Structural Similarity
more info
  
is_active_in cortical actin cytoskeleton IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
located_in cortical cytoskeleton IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in cytoskeleton TAS
Traceable Author Statement
more info
 PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in dendritic spine IEA
Inferred from Electronic Annotation
more info
  
located_in focal adhesion HDA PubMed 
colocalizes_with growth cone ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
  
is_active_in lamellipodium IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
located_in lamellipodium IDA
Inferred from Direct Assay
more info
 PubMed 
located_in lamellipodium ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in mitotic spindle midzone IEA
Inferred from Electronic Annotation
more info
  
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
  
located_in podosome IEA
Inferred from Electronic Annotation
more info
  
located_in ruffle ISS
Inferred from Sequence or Structural Similarity
more info
  
is_active_in site of polarized growth IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 

General protein information

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Preferred Names
src substrate cortactin
Names
1110020L01Rik
amplaxin
ems1 sequence (mammary tumor and squamous cell carcinoma-associated (p80/85 src substrate)
epididymis secretory sperm binding protein
oncogene EMS1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_029881.1 RefSeqGene

    Range
    5024..43070
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001184740.2 → NP_001171669.1  src substrate cortactin isoform c

    See identical proteins and their annotated locations for NP_001171669.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses different splice sites in the 3' coding region, which changes reading frame and the termination stop codon, compared to variant 1. The resulting protein (isoform c) has a longer and distinct C-terminus when it is compared to isoform a.
    Source sequence(s)
    AA325227, BC033889, DA716772
    Consensus CDS
    CCDS53676.1
    UniProtKB/Swiss-Prot
    Q14247
    Related
    ENSP00000365745.3, ENST00000376561.7
    Conserved Domains (3) summary
    pfam02218
    Location:231 → 266
    HS1_rep; Repeat in HS1/Cortactin
    cl05005
    Location:288 → 363
    TAF4; TATA Binding Protein (TBP) Associated Factor 4 (TAF4) is one of several TAFs that bind TBP and is involved in forming Transcription Factor IID (TFIID) complex
    cl17036
    Location:459 → 501
    SH3; Src Homology 3 domain superfamily

  2. NM_005231.4 → NP_005222.2  src substrate cortactin isoform a

    See identical proteins and their annotated locations for NP_005222.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) is the longest transcript.
    Source sequence(s)
    AK222613, AK291097, BC008799, DA716772
    Consensus CDS
    CCDS41680.1
    UniProtKB/Swiss-Prot
    Q14247
    UniProtKB/TrEMBL
    Q53HG7
    Related
    ENSP00000301843.8, ENST00000301843.13
    Conserved Domains (3) summary
    cd11959
    Location:496 → 548
    SH3_Cortactin; Src homology 3 domain of Cortactin
    pfam02218
    Location:231 → 266
    HS1_rep; Repeat in HS1/Cortactin
    cl05005
    Location:325 → 400
    TAF4; TATA Binding Protein (TBP) Associated Factor 4 (TAF4) is one of several TAFs that bind TBP and is involved in forming Transcription Factor IID (TFIID) complex

  3. NM_138565.3 → NP_612632.1  src substrate cortactin isoform b

    See identical proteins and their annotated locations for NP_612632.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an internal segment of sequence, compared to variant 1. The resulting protein (isoform b) has the same N- and C- termini but is shorter when it is compared to isoform a.
    Source sequence(s)
    AK222613, BC008799, DA716772
    Consensus CDS
    CCDS8197.1
    UniProtKB/Swiss-Prot
    Q14247
    UniProtKB/TrEMBL
    A0A024R5M3, Q53HG7
    Related
    ENSP00000317189.4, ENST00000346329.7
    Conserved Domains (4) summary
    cd11959
    Location:459 → 511
    SH3_Cortactin; Src homology 3 domain of Cortactin
    pfam02218
    Location:231 → 266
    HS1_rep; Repeat in HS1/Cortactin
    pfam15927
    Location:322 → 359
    Casc1_N; Cancer susceptibility candidate 1 N-terminus
    cl26557
    Location:310 → 445
    RNase_E_G; Ribonuclease E/G family

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    70398529..70436579
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006718447.3 → XP_006718510.1  src substrate cortactin isoform X1

    Conserved Domains (3) summary
    cd11959
    Location:422 → 474
    SH3_Cortactin; Src homology 3 domain of Cortactin
    pfam02218
    Location:157 → 192
    HS1_rep; Repeat in HS1/Cortactin
    cl05005
    Location:251 → 326
    TAF4; TATA Binding Protein (TBP) Associated Factor 4 (TAF4) is one of several TAFs that bind TBP and is involved in forming Transcription Factor IID (TFIID) complex

  2. XM_006718448.4 → XP_006718511.1  src substrate cortactin isoform X2

    Conserved Domains (1) summary
    pfam02218
    Location:231 → 266
    HS1_rep; Repeat in HS1/Cortactin

  3. XM_017017312.2 → XP_016872801.1  src substrate cortactin isoform X3

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_021160005.1 Reference GRCh38.p13 PATCHES

    Range
    159817..197863
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q14247.2 GenPept UniProtKB/Swiss-Prot:Q14247

Gene LinkOut

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