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 (PM... See more...

Aliases for PXN Gene

Aliases for PXN Gene

  • Paxillin 2 3 4 5
  • Testicular Tissue Protein Li 134 3

External Ids for PXN Gene

Previous GeneCards Identifiers for PXN Gene

  • GC12M119521
  • GC12M120174
  • GC12M120431
  • GC12M119060
  • GC12M119110
  • GC12M120648
  • GC12M117656

Summaries for PXN Gene

Entrez Gene Summary for PXN Gene

  • 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]

GeneCards Summary for PXN Gene

PXN (Paxillin) is a Protein Coding gene. Diseases associated with PXN include Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans and Breast Adenocarcinoma. Among its related pathways are Non-Canonical Wnt Pathway and PI3K/AKT activation. Gene Ontology (GO) annotations related to this gene include protein kinase binding and integrin binding. An important paralog of this gene is TGFB1I1.

UniProtKB/Swiss-Prot Summary for PXN Gene

  • Cytoskeletal protein involved in actin-membrane attachment at sites of cell adhesion to the extracellular matrix (focal adhesion).

Gene Wiki entry for PXN Gene

Additional gene information for PXN Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PXN Gene

Genomics for PXN Gene

GeneHancer (GH) Regulatory Elements for PXN Gene

Promoters and enhancers for PXN Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PXN on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PXN gene promoter:
  • AP-1
  • ATF-2
  • c-Jun
  • E2F
  • E2F-1
  • E2F-2
  • STAT3

Genomic Locations for PXN Gene

Genomic Locations for PXN Gene
chr12:120,210,439-120,265,771
(GRCh38/hg38)
Size:
55,333 bases
Orientation:
Minus strand
chr12:120,648,250-120,703,574
(GRCh37/hg19)
Size:
55,325 bases
Orientation:
Minus strand

Genomic View for PXN Gene

Genes around PXN on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PXN Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PXN Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PXN Gene

Proteins for PXN Gene

  • Protein details for PXN Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P49023-PAXI_HUMAN
    Recommended name:
    Paxillin
    Protein Accession:
    P49023
    Secondary Accessions:
    • B2RAI3
    • B7ZMB4
    • O14970
    • O14971
    • O60360
    • Q5HYA4

    Protein attributes for PXN Gene

    Size:
    591 amino acids
    Molecular mass:
    64505 Da
    Quaternary structure:
    • Binds in vitro to vinculin as well as to the SH3 domain of SRC and, when tyrosine phosphorylated, to the SH2 domain of V-CRK. Isoform beta binds to PTK2/FAK1 but weakly to vinculin. Isoform gamma binds to vinculin but only weakly to PTK2/FAK1. Interacts with GIT1, NUDT16L1/SDOS and TGFB1I1. Component of cytoplasmic complexes, which also contain GIT1, ARHGEF6 and PAK1. Interacts with PTK2/FAK1 and PTK2B/PYK2. Binds ASAP2. Interacts with unphosphorylated ITGA4. Interacts with RNF5 and PDCD10. Interacts with NEK3 and this interaction is prolactin-dependent. Interacts with PTK6. Interacts with SORBS1, PARVA and PARVB. Interacts (via cytoplasmic domain) with CEACAM1; the interaction is phosphotyrosyl-dependent (PubMed:11035932). Interacts with LIMA1; this complex stabilizes actin dynamics (PubMed:24694988).

    Three dimensional structures from OCA and Proteopedia for PXN Gene

    Alternative splice isoforms for PXN Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PXN Gene

Post-translational modifications for PXN Gene

  • Phosphorylated by MAPK1/ERK2 (By similarity). Phosphorylated on tyrosine residues during integrin-mediated cell adhesion, embryonic development, fibroblast transformation and following stimulation of cells by mitogens. Phosphorylation at Ser-244 by CDK5 reduces its interaction with PTK2/FAK1 in matrix-cell focal adhesions (MCFA) during oligodendrocytes (OLs) differentiation. Phosphorylation at Tyr-31 and Tyr-118 by PTK6 promote the activation of RAC1 via CRK/CrKII, thereby promoting migration and invasion. Phosphorylation at Ser-250 by SLK is required for PXN redistribution and cell motility (PubMed:23128389).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

No data available for DME Specific Peptides for PXN Gene

Domains & Families for PXN Gene

Gene Families for PXN Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for PXN Gene

Suggested Antigen Peptide Sequences for PXN Gene

GenScript: Design optimal peptide antigens:
  • Paxillin (PAXI_HUMAN)
  • PXN protein (Q7Z7K5_HUMAN)
  • PXN protein (Q9BTK0_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P49023

UniProtKB/Swiss-Prot:

PAXI_HUMAN :
  • Belongs to the paxillin family.
Family:
  • Belongs to the paxillin family.
genes like me logo Genes that share domains with PXN: view

Function for PXN Gene

Molecular function for PXN Gene

UniProtKB/Swiss-Prot Function:
Cytoskeletal protein involved in actin-membrane attachment at sites of cell adhesion to the extracellular matrix (focal adhesion).
GENATLAS Biochemistry:
focal adhesion protein (68kDa),paxillin

Phenotypes From GWAS Catalog for PXN Gene

Gene Ontology (GO) - Molecular Function for PXN Gene

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
genes like me logo Genes that share ontologies with PXN: view
genes like me logo Genes that share phenotypes with PXN: view

Animal Models for PXN Gene

MGI Knock Outs for PXN:
  • Pxn Pxn<tm1Smth>

Animal Model Products

CRISPR Products

Clone Products

  • Addgene plasmids for PXN

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PXN Gene

Localization for PXN Gene

Subcellular locations from UniProtKB/Swiss-Prot for PXN Gene

Cytoplasm, cytoskeleton. Cell junction, focal adhesion. Cytoplasm, cell cortex. Note=Colocalizes with integrins at the cell periphery. Colocalize with PXN to membrane ruffles and the leading edge of migrating cells (PubMed:23128389). {ECO:0000250, ECO:0000269 PubMed:23128389}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PXN gene
Compartment Confidence
plasma membrane 5
cytoskeleton 5
cytosol 5
nucleus 4
extracellular 2
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Focal adhesion sites (4)
  • Cytosol (3)
  • Centrosome (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PXN Gene

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
genes like me logo Genes that share ontologies with PXN: view

Pathways & Interactions for PXN Gene

genes like me logo Genes that share pathways with PXN: view

SIGNOR curated interactions for PXN Gene

Activates:
Is activated by:
Is inactivated by:
Other effect:

Gene Ontology (GO) - Biological Process for PXN Gene

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 IDA 24036928
genes like me logo Genes that share ontologies with PXN: view

Drugs & Compounds for PXN Gene

(44) Drugs for PXN Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(38) Additional Compounds for PXN Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with PXN: view

Transcripts for PXN Gene

CRISPR Products

Clone Products

  • Addgene plasmids for PXN

Alternative Splicing Database (ASD) splice patterns (SP) for PXN Gene

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:

Relevant External Links for PXN Gene

GeneLoc Exon Structure for
PXN
ECgene alternative splicing isoforms for
PXN

Expression for PXN Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PXN Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PXN Gene

This gene is overexpressed in Whole Blood (x7.5).

Protein differential expression in normal tissues from HIPED for PXN Gene

This gene is overexpressed in NK cells (15.2), Peripheral blood mononuclear cells (10.0), and Bone marrow stromal cell (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PXN Gene



Protein tissue co-expression partners for PXN Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PXN Gene:

PXN

SOURCE GeneReport for Unigene cluster for PXN Gene:

Hs.446336

Evidence on tissue expression from TISSUES for PXN Gene

  • Nervous system(4.9)
  • Liver(4.4)
  • Lung(4.1)
  • Skin(4.1)
  • Kidney(3.5)
  • Pancreas(3.4)
  • Eye(3.1)
  • Muscle(3.1)
  • Heart(2.9)
  • Intestine(2.9)
  • Blood(2.5)
  • Bone marrow(2.3)
  • Adrenal gland(2.2)
  • Lymph node(2.1)
genes like me logo Genes that share expression patterns with PXN: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PXN Gene

Orthologs for PXN Gene

This gene was present in the common ancestor of animals.

Orthologs for PXN Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PXN 33 32
  • 99.55 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PXN 33 32
  • 91.79 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PXN 33
  • 90 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PXN 33 32
  • 89.93 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Pxn 17 33 32
  • 88.56 (n)
rat
(Rattus norvegicus)
Mammalia Pxn 32
  • 88.16 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PXN 33
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves PXN 33 32
  • 81.26 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PXN 33
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pxn 32
  • 73.19 (n)
Str.15031 32
African clawed frog
(Xenopus laevis)
Amphibia LOC397826 32
zebrafish
(Danio rerio)
Actinopterygii pxna 33 33
  • 91 (a)
OneToMany
LOC565130 32
  • 69.65 (n)
PXN (1 of 3) 33
  • 33 (a)
OneToMany
sbcb631 32
fruit fly
(Drosophila melanogaster)
Insecta Pax 33 34
  • 45 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea C28H8.6 34
  • 54 (a)
pxl-1 33
  • 42 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9134 33
  • 54 (a)
OneToMany
Cin.11495 32
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.11495 32
Species where no ortholog for PXN was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PXN Gene

ENSEMBL:
Gene Tree for PXN (if available)
TreeFam:
Gene Tree for PXN (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PXN: view image

Paralogs for PXN Gene

Paralogs for PXN Gene

(11) SIMAP similar genes for PXN Gene using alignment to 11 proteins:

  • PAXI_HUMAN
  • E7EMK8_HUMAN
  • F5GZ78_HUMAN
  • F5H836_HUMAN
  • F8VZ39_HUMAN
  • F8W0G0_HUMAN
  • F8W0K8_HUMAN
  • F8W1E0_HUMAN
  • H0YIE4_HUMAN
  • Q7Z7K5_HUMAN
  • Q9BTK0_HUMAN
genes like me logo Genes that share paralogs with PXN: view

Variants for PXN Gene

Sequence variations from dbSNP and Humsavar for PXN Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs1000015133 -- 120,230,028(-) C/A/T genic_upstream_transcript_variant, intron_variant
rs1000050487 -- 120,265,497(-) G/A genic_upstream_transcript_variant, intron_variant
rs1000080809 -- 120,215,237(-) G/A/T 3_prime_UTR_variant, coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1000085904 -- 120,223,093(-) G/T genic_upstream_transcript_variant, intron_variant
rs1000146458 -- 120,256,933(-) C/T genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for PXN Gene

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

Variation tolerance for PXN Gene

Residual Variation Intolerance Score: 67.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.85; 34.69% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PXN Gene

Human Gene Mutation Database (HGMD)
PXN
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PXN

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PXN Gene

Disorders for PXN Gene

MalaCards: The human disease database

(6) MalaCards diseases for PXN Gene - From: HGMD, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
achondroplasia, severe, with developmental delay and acanthosis nigricans
  • achondroplasia
breast adenocarcinoma
  • adenocarcinoma of breast
lung cancer
  • adenocarcinoma of lung
colorectal cancer
  • crc
prostate cancer
  • prostate cancer, somatic
- elite association - COSMIC cancer census association via MalaCards
Search PXN in MalaCards View complete list of genes associated with diseases

Additional Disease Information for PXN

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with PXN: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PXN Gene

Publications for PXN Gene

  1. Molecular cloning of human paxillin, a focal adhesion protein phosphorylated by P210BCR/ABL. (PMID: 7534286) Salgia R … Ernst T (The Journal of biological chemistry 1995) 2 3 4 23 56
  2. No somatic genetic change in the paxillin gene in nonsmall-cell lung cancer. (PMID: 19353596) Pallier K … Blons H (Molecular carcinogenesis 2009) 3 23 43 56
  3. RNF5, a RING finger protein that regulates cell motility by targeting paxillin ubiquitination and altered localization. (PMID: 12861019) Didier C … Ronai Z (Molecular and cellular biology 2003) 3 4 23 56
  4. A new paxillin-binding protein, PAG3/Papalpha/KIAA0400, bearing an ADP-ribosylation factor GTPase-activating protein activity, is involved in paxillin recruitment to focal adhesions and cell migration. (PMID: 10749932) Kondo A … Sabe H (Molecular biology of the cell 2000) 3 4 23 56
  5. Monocyte cells and cancer cells express novel paxillin isoforms with different binding properties to focal adhesion proteins. (PMID: 9054445) Mazaki Y … Sabe H (The Journal of biological chemistry 1997) 3 4 23 56

Products for PXN Gene