CTTN cortactin [Homo sapiens (human)] - Gene

Summary

Official Symbol: CTTNprovided by HGNC
Official Full Name: cortactinprovided by HGNC
Primary source: HGNC:HGNC:3338
See related: Ensembl:ENSG00000085733 MIM:164765; AllianceGenome:HGNC:3338
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: mouse all
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Genomic context

Location:: 11q13.3

Exon count:: 19

Annotation release	Status	Assembly	Chr	Location
RS_2023_03	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (70398529..70436575)
RS_2023_03	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (70418951..70456993)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (70244635..70282681)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Cortactin expression in a Norwegian cohort of human papilloma virus negative oral squamous cell carcinomas of the mobile tongue.
Title: Cortactin expression in a Norwegian cohort of human papilloma virus negative oral squamous cell carcinomas of the mobile tongue.
CBLC inhibits the proliferation and metastasis of breast cancer cells via ubiquitination and degradation of CTTN.
Title: CBLC inhibits the proliferation and metastasis of breast cancer cells via ubiquitination and degradation of CTTN.
Cortactin and HER2 as potential markers for dural-targeted therapy in advanced gastric cancer.
Title: Cortactin and HER2 as potential markers for dural-targeted therapy in advanced gastric cancer.
A cortactin CTTN coding SNP contributes to lung vascular permeability and inflammatory disease severity in African descent subjects.
Title: A cortactin CTTN coding SNP contributes to lung vascular permeability and inflammatory disease severity in African descent subjects.
[The expression of cortactin in colorectal cancer and its relationship with clinicopathological and prognostic parameters].
Title: [The expression of cortactin in colorectal cancer and its relationship with clinicopathological and prognostic parameters].
A comparative immunohistochemical analysis of cortactin in orthokeratinized odontogenic cyst (OOC), sporadic odontogenic keratocyst (OKC), and syndromic OKC.
Title: A comparative immunohistochemical analysis of cortactin in orthokeratinized odontogenic cyst (OOC), sporadic odontogenic keratocyst (OKC), and syndromic OKC.
The phosphatase Shp1 interacts with and dephosphorylates cortactin to inhibit invadopodia function.
Title: The phosphatase Shp1 interacts with and dephosphorylates cortactin to inhibit invadopodia function.
The Helicobacter pylori type IV secretion system upregulates epithelial cortactin expression by a CagA- and JNK-dependent pathway.
Title: The Helicobacter pylori type IV secretion system upregulates epithelial cortactin expression by a CagA- and JNK-dependent pathway.
Cortactin Modulates Lung Endothelial Apoptosis Induced by Cigarette Smoke.
Title: Cortactin Modulates Lung Endothelial Apoptosis Induced by Cigarette Smoke.
CX3 CL1 promotes tumour cell by inducing tyrosine phosphorylation of cortactin in lung cancer.
Title: CX(3) CL1 promotes tumour cell by inducing tyrosine phosphorylation of cortactin in lung cancer.

Submit: New GeneRIF Correction See all GeneRIFs (201)

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)

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

A008X45 (e-PCR)
- UniSTS:23338

D8S2279 (e-PCR)
- UniSTS:473907

EMS1 (e-PCR)
- UniSTS:34626

D11S2382 (e-PCR)
- UniSTS:27473

RH65644 (e-PCR)
- UniSTS:87922

D1S1425 (e-PCR)
- UniSTS:149621

RH46594 (e-PCR)
- UniSTS:65669

RH17764 (e-PCR)
- UniSTS:52918

RH121473 (e-PCR)
- UniSTS:134601

Homology

Homologs of the CTTN gene: The CTTN gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, fruit fly, mosquito, and frog.
Orthologs from Annotation Pipeline: 345 organisms have orthologs with human gene CTTN
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cadherin binding	HDA more info	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 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 extrinsic apoptotic signaling pathway	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 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 signal transduction	IBA Inferred from Biological aspect of Ancestor more info	PubMed
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	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
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
is_active_in endocytic vesicle	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
located_in focal adhesion	HDA more info	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
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
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

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

NG_029881.1 RefSeqGene

Range

5024..43070

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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, Q96H99

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
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: GCF_000001405.40-RS_2023_03

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000011.10 Reference GRCh38.p14 Primary Assembly

Range

70398529..70436575

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006718447.4 → 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
XM_006718448.5 → XP_006718511.1 src substrate cortactin isoform X2

Conserved Domains (1) summary

pfam02218
Location:231 → 266

HS1_rep; Repeat in HS1/Cortactin
XM_017017312.3 → XP_016872801.1 src substrate cortactin isoform X3