The product encoded by this gene is preferentially expressed in hematopoietic cells and belongs to the paxillin protein family. Similar to other members of this focal-adhesion-associated adaptor-protein family, it has four leucine-rich LD-motifs in the N-terminus and four LIM domains in the C-terminus. It may function in cell type-specific signaling by associating with PYK2, a ... See more...

Aliases for LPXN Gene

Aliases for LPXN Gene

  • Leupaxin 2 3 4 5
  • LDPL 2 3
  • LPXN 5
  • LDLP 4

External Ids for LPXN Gene

Previous GeneCards Identifiers for LPXN Gene

  • GC11M060688
  • GC11M059807
  • GC11M058545
  • GC11M058069
  • GC11M058052
  • GC11M058294
  • GC11M054641
  • GC11M058777
  • GC11M059021
  • GC11M059798
  • GC11M061238
  • GC11M063706

Summaries for LPXN Gene

Entrez Gene Summary for LPXN Gene

  • The product encoded by this gene is preferentially expressed in hematopoietic cells and belongs to the paxillin protein family. Similar to other members of this focal-adhesion-associated adaptor-protein family, it has four leucine-rich LD-motifs in the N-terminus and four LIM domains in the C-terminus. It may function in cell type-specific signaling by associating with PYK2, a member of focal adhesion kinase family. As a substrate for a tyrosine kinase in lymphoid cells, this protein may also function in, and be regulated by, tyrosine kinase activity. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Jan 2009]

GeneCards Summary for LPXN Gene

LPXN (Leupaxin) is a Protein Coding gene. Diseases associated with LPXN include Cholelithiasis and Lipid Metabolism Disorder. Among its related pathways are Cytoskeletal Signaling and Adhesion. Gene Ontology (GO) annotations related to this gene include transcription coregulator activity. An important paralog of this gene is PXN.

UniProtKB/Swiss-Prot Summary for LPXN Gene

  • Transcriptional coactivator for androgen receptor (AR) and serum response factor (SRF). Contributes to the regulation of cell adhesion, spreading and cell migration and acts as a negative regulator in integrin-mediated cell adhesion events. Suppresses the integrin-induced tyrosine phosphorylation of paxillin (PXN). May play a critical role as an adapter protein in the formation of the adhesion zone in osteoclasts. Negatively regulates B-cell antigen receptor (BCR) signaling.

Gene Wiki entry for LPXN Gene

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

Genomics for LPXN Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for LPXN 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 LPXN on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for LPXN

Top Transcription factor binding sites by QIAGEN in the LPXN gene promoter:
  • c-Ets-1
  • C/EBPalpha
  • FOXC1
  • HOXA3

Genomic Locations for LPXN Gene

Latest Assembly
chr11:58,526,871-58,578,239
(GRCh38/hg38)
Size:
51,369 bases
Orientation:
Minus strand

Previous Assembly
chr11:58,294,344-58,345,606
(GRCh37/hg19 by Entrez Gene)
Size:
51,263 bases
Orientation:
Minus strand

chr11:58,294,344-58,345,693
(GRCh37/hg19 by Ensembl)
Size:
51,350 bases
Orientation:
Minus strand

Genomic View for LPXN Gene

Genes around LPXN on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for LPXN Gene

Proteins for LPXN Gene

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

    Protein Symbol:
    O60711-LPXN_HUMAN
    Recommended name:
    Leupaxin
    Protein Accession:
    O60711
    Secondary Accessions:
    • B2R8B4
    • B4DV71
    • Q53FW6
    • Q6FI07

    Protein attributes for LPXN Gene

    Size:
    386 amino acids
    Molecular mass:
    43332 Da
    Quaternary structure:
    • Interacts with PTPN22 (By similarity). Interacts with unphosphorylated ITGA4. Interacts with PTK2B/PYK2, PTPN12, AR and SRF. Interacts (via LD motif 3) with LYN and the interaction is induced upon B-cell antigen receptor (BCR) activation. Interacts (via LD motif 3) with PTK2/FAK.

    Three dimensional structures from OCA and Proteopedia for LPXN Gene

    Alternative splice isoforms for LPXN Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for LPXN Gene

Post-translational modifications for LPXN Gene

  • Phosphorylated on tyrosine residues. Phosphorylation on Tyr-72 is important for its inhibitory function. Bombesin stimulates phosphorylation on Tyr-22, Tyr-62 and Tyr-72.
  • Ubiquitination at Lys106, Lys260, Lys364, and Lys382
  • Modification sites at PhosphoSitePlus

Antibodies for research

  • Boster Bio Antibodies for LPXN

No data available for DME Specific Peptides for LPXN Gene

Domains & Families for LPXN Gene

Gene Families for LPXN Gene

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

Protein Domains for LPXN Gene

InterPro:
Blocks:
  • Zn-binding protein, LIM

Suggested Antigen Peptide Sequences for LPXN Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ58628, highly similar to Leupaxin (B4DV71_HUMAN)
  • Leupaxin (LPXN_HUMAN)
  • LPXN protein (Q6FI07_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O60711

UniProtKB/Swiss-Prot:

LPXN_HUMAN :
  • The LIM domain 3 is critical for focal adhesion targeting and the suppression of paxillin (PXN) tyrosine phosphorylation. The LIM domain 3 alone or both LIM domains 3 and 4 can mediate interaction with AR.
  • Belongs to the paxillin family.
Domain:
  • The LIM domain 3 is critical for focal adhesion targeting and the suppression of paxillin (PXN) tyrosine phosphorylation. The LIM domain 3 alone or both LIM domains 3 and 4 can mediate interaction with AR.
Family:
  • Belongs to the paxillin family.
genes like me logo Genes that share domains with LPXN: view

Function for LPXN Gene

Molecular function for LPXN Gene

UniProtKB/Swiss-Prot Function:
Transcriptional coactivator for androgen receptor (AR) and serum response factor (SRF). Contributes to the regulation of cell adhesion, spreading and cell migration and acts as a negative regulator in integrin-mediated cell adhesion events. Suppresses the integrin-induced tyrosine phosphorylation of paxillin (PXN). May play a critical role as an adapter protein in the formation of the adhesion zone in osteoclasts. Negatively regulates B-cell antigen receptor (BCR) signaling.

Phenotypes From GWAS Catalog for LPXN Gene

Gene Ontology (GO) - Molecular Function for LPXN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003712 transcription coregulator activity IEA,IDA 18451096
GO:0005515 protein binding IPI 17640867
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with LPXN: view
genes like me logo Genes that share phenotypes with LPXN: view

Animal Models for LPXN Gene

MGI Knock Outs for LPXN:
  • Lpxn Lpxn<tm1b(EUCOMM)Hmgu>

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LPXN

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

Localization for LPXN Gene

Subcellular locations from UniProtKB/Swiss-Prot for LPXN Gene

Cytoplasm. Cell junction, focal adhesion. Nucleus. Cytoplasm, perinuclear region. Cell projection, podosome. Cell membrane. Note=Shuttles between the cytoplasm and nucleus. Recruited to the cell membrane following B-cell antigen receptor (BCR) cross-linking in B-cells. Enhanced focal adhesion kinase activity (PTK2/FAK) attenuates its nuclear accumulation and limits its ability to enhance serum response factor (SRF)-dependent gene transcription. Targeting to focal adhesions is essential for its tyrosine phosphorylation in response to bombesin.

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 LPXN gene
Compartment Confidence
plasma membrane 5
cytoskeleton 5
nucleus 5
cytosol 5
extracellular 2
mitochondrion 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Focal adhesion sites (3)
  • Nuclear speckles (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for LPXN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002102 podosome IEA,IDA 12674328
GO:0005634 nucleus IEA,IDA 18451096
GO:0005737 cytoplasm IEA,IDA 17640867
GO:0005829 cytosol IBA,IDA --
GO:0005856 cytoskeleton IEA --
genes like me logo Genes that share ontologies with LPXN: view

Pathways & Interactions for LPXN Gene

PathCards logo

SuperPathways for LPXN Gene

SuperPathway Contained pathways
1 Adhesion
2 Cytoskeletal Signaling
genes like me logo Genes that share pathways with LPXN: view

Pathways by source for LPXN Gene

2 Cell Signaling Technology pathways for LPXN Gene

SIGNOR curated interactions for LPXN Gene

Is activated by:

Gene Ontology (GO) - Biological Process for LPXN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0007155 cell adhesion IEA,NAS 9565592
GO:0007162 negative regulation of cell adhesion IDA 20543562
GO:0007165 signal transduction TAS 9565592
GO:0007179 transforming growth factor beta receptor signaling pathway IBA 21873635
genes like me logo Genes that share ontologies with LPXN: view

Drugs & Compounds for LPXN Gene

(2) Drugs for LPXN Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(2) Additional Compounds for LPXN Gene - From: Novoseek

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

Transcripts for LPXN Gene

mRNA/cDNA for LPXN Gene

3 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LPXN

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

No ASD Table

Relevant External Links for LPXN Gene

GeneLoc Exon Structure for
LPXN

Expression for LPXN Gene

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

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

This gene is overexpressed in Whole Blood (x6.8).

Protein differential expression in normal tissues from HIPED for LPXN Gene

This gene is overexpressed in Serum (11.9), NK cells (10.9), Peripheral blood mononuclear cells (10.0), Lymph node (9.4), and CD8 Tcells (9.2).

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



Protein tissue co-expression partners for LPXN Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for LPXN

SOURCE GeneReport for Unigene cluster for LPXN Gene:

Hs.125474

mRNA Expression by UniProt/SwissProt for LPXN Gene:

O60711-LPXN_HUMAN
Tissue specificity: Macrophages, monocytes and osteoclasts (at protein level). Strongly expressed in cells and tissues of hematopoietic origin. Highest expression in lymphoid tissues such as spleen, lymph node, thymus and appendix and in the vascular smooth muscle. Lower levels in bone marrow and fetal liver. Also expressed in peripheral blood lymphocytes and a number of hematopoietic cell lines. Very low levels found in epithelial cell lines. Expressed in prostate cancer (PCa) cells and its expression intensity is directly linked to PCa progression.

Evidence on tissue expression from TISSUES for LPXN Gene

  • Intestine(4.4)
  • Lung(4.4)
  • Spleen(4.4)
  • Liver(4.3)
  • Blood(3.2)
genes like me logo Genes that share expression patterns with LPXN: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for LPXN Gene

Orthologs for LPXN Gene

This gene was present in the common ancestor of animals.

Orthologs for LPXN Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia LPXN 29 30
  • 99.74 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia LPXN 29 30
  • 89.93 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Lpxn 29
  • 87.11 (n)
Mouse
(Mus musculus)
Mammalia Lpxn 29 16 30
  • 87.02 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia LPXN 29 30
  • 84.18 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia LPXN 30
  • 75 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia LPXN 30
  • 70 (a)
OneToOne
Chicken
(Gallus gallus)
Aves LPXN 29 30
  • 62.5 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia LPXN 30
  • 60 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii LPXN 30
  • 45 (a)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta Pax 30 31
  • 33 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea C28H8.6 31
  • 50 (a)
pxl-1 30
  • 35 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.9134 30
  • 40 (a)
OneToMany
Species where no ortholog for LPXN was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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 Vase (Ciona intestinalis)
  • 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)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)

Evolution for LPXN Gene

ENSEMBL:
Gene Tree for LPXN (if available)
TreeFam:
Gene Tree for LPXN (if available)
Aminode:
Evolutionary constrained regions (ECRs) for LPXN: view image
Alliance of Genome Resources:
Additional Orthologs for LPXN

Paralogs for LPXN Gene

Paralogs for LPXN Gene

(8) SIMAP similar genes for LPXN Gene using alignment to 3 proteins:

  • LPXN_HUMAN
  • B7Z5P7_HUMAN
  • E9PNX9_HUMAN
genes like me logo Genes that share paralogs with LPXN: view

Variants for LPXN Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for LPXN Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
rs12271558 -- p.Pro148Thr

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for LPXN Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

Variant ID Type Subtype PubMed ID
nsv528190 CNV loss 19592680
nsv820292 CNV gain 19587683

Variation tolerance for LPXN Gene

Residual Variation Intolerance Score: 71.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.21; 52.25% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for LPXN Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
LPXN
Leiden Open Variation Database (LOVD)
LPXN

SNP Genotyping and Copy Number Assays for research

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

Disorders for LPXN Gene

MalaCards: The human disease database

(8) MalaCards diseases for LPXN Gene - From: COP and GCD

Disorder Aliases PubMed IDs
cholelithiasis
lipid metabolism disorder
  • dyslipidemia
familial hyperlipidemia
  • familial hyperlipoproteinemia
chronic pyelonephritis
type 2 diabetes mellitus
  • t2d
- elite association - COSMIC cancer census association via MalaCards
Search LPXN in MalaCards View complete list of genes associated with diseases

Additional Disease Information for LPXN

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with LPXN: view

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

Publications for LPXN Gene

  1. Leupaxin is a novel LIM domain protein that forms a complex with PYK2. (PMID: 9565592) Lipsky BP … Staunton DE (The Journal of biological chemistry 1998) 2 3 4 22
  2. The LIM protein leupaxin is enriched in smooth muscle and functions as an serum response factor cofactor to induce smooth muscle cell gene transcription. (PMID: 18497331) Sundberg-Smith LJ … Taylor JM (Circulation research 2008) 3 4 22
  3. Leupaxin, a novel coactivator of the androgen receptor, is expressed in prostate cancer and plays a role in adhesion and invasion of prostate carcinoma cells. (PMID: 18451096) Kaulfuss S … Burfeind P (Molecular endocrinology (Baltimore, Md.) 2008) 3 4 22
  4. Interaction of Pyk2 and PTP-PEST with leupaxin in prostate cancer cells. (PMID: 17329398) Sahu SN … Gupta A (American journal of physiology. Cell physiology 2007) 3 4 22
  5. Leupaxin negatively regulates B cell receptor signaling. (PMID: 17640867) Chew V … Lam KP (The Journal of biological chemistry 2007) 3 4 22

Products for LPXN Gene

Sources for LPXN Gene