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This gene encodes a cytoskeletal protein involved in actin-membrane attachment at sites of cell adhesion to the extracellular matrix (focal adhesion). Alternatively spliced transcript variants encoding different isoforms have been described for this gene. These isoforms exhibit different expression pattern, and have different biochemical, as well as physiological properties (PMID:9054445). [provided by RefSeq, Aug 2011]
PXN (Paxillin) is a Protein Coding gene. Diseases associated with PXN include Neurofibromatosis, Type Ii and Papilloma. Among its related pathways are RET signaling and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include protein kinase binding and integrin binding. An important paralog of this gene is TGFB1I1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003712 | transcription coregulator activity | IBA | 21873635 |
GO:0005178 | integrin binding | IEA | -- |
GO:0005515 | protein binding | IPI | 7561682 |
GO:0008013 | beta-catenin binding | IPI | 17513457 |
GO:0017166 | vinculin binding | IPI | 9054445 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001725 | stress fiber | IDA | 24036928 |
GO:0005737 | cytoplasm | IEA | -- |
GO:0005829 | cytosol | TAS | -- |
GO:0005856 | cytoskeleton | IEA | -- |
GO:0005875 | microtubule associated complex | TAS | 10840040 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Cell junction organization | ||
2 | Focal Adhesion |
.61
.61
|
HGF Pathway
.33
|
3 | Integrin Pathway |
FAK1 Signaling
.67
Integrin Pathway
.67
|
Transendothelial Migration of Leukocytes
.38
|
4 | RET signaling | ||
5 | Human cytomegalovirus infection |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006936 | muscle contraction | TAS | -- |
GO:0007155 | cell adhesion | NAS | 10840040 |
GO:0007165 | signal transduction | TAS | 7534286 |
GO:0007172 | signal complex assembly | TAS | 9054445 |
GO:0007179 | transforming growth factor beta receptor signaling pathway | IBA,IDA | 24036928 |
ExUns: | 1 | ^ | 2a | · | 2b | · | 2c | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | ^ | 9 | ^ | 10 | ^ | 11a | · | 11b | ^ | 12 | ^ | 13a | · | 13b | ^ | 14a | · | 14b | ^ | 15 | ^ | 16 | ^ | 17a | · | 17b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||
SP5: | |||||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
SP7: | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP8: | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
SP9: | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP10: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | PXN 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | PXN 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | PXN 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | PXN 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Pxn 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Pxn 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | PXN 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | PXN 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | PXN 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | pxn 30 |
|
||
Str.15031 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | LOC397826 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | pxna 31 31 |
|
OneToMany | |
LOC565130 30 |
|
||||
PXN (1 of 3) 31 |
|
OneToMany | |||
sbcb631 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | Pax 31 32 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | C28H8.6 32 |
|
|
|
pxl-1 31 |
|
OneToMany | |||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.9134 31 |
|
OneToMany | |
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.11495 30 |
|
SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
710179 | Benign: not provided | 120,215,008(-) | A/C | INTRON_VARIANT | |
715656 | Benign: not provided | 120,212,569(-) | C/T | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
753878 | Likely Benign: not provided | 120,222,921(-) | G/A | SYNONYMOUS_VARIANT | |
773267 | Likely Benign: not provided | 120,222,754(-) | G/C | INTRON_VARIANT | |
776757 | Benign: not provided | 120,214,855(-) | G/A | SYNONYMOUS_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv3448120 | CNV | duplication | 20981092 |
nsv472614 | CNV | novel sequence insertion | 20440878 |
nsv519657 | CNV | loss | 19592680 |
nsv560433 | CNV | loss | 21841781 |
nsv560435 | CNV | loss | 21841781 |
nsv560436 | CNV | loss | 21841781 |
nsv7238 | OTHER | inversion | 18451855 |
nsv832530 | CNV | loss | 17160897 |
nsv905 | CNV | insertion | 18451855 |
nsv976654 | CNV | duplication | 23825009 |
Disorder | Aliases | PubMed IDs |
---|---|---|
neurofibromatosis, type ii |
|
|
papilloma |
|
|
breast adenocarcinoma |
|
|
colorectal cancer |
|
|
prostate cancer |
|