LPXN leupaxin [Homo sapiens (human)] - Gene

Summary

Official Symbol: LPXNprovided by HGNC
Official Full Name: leupaxinprovided by HGNC
Primary source: HGNC:HGNC:14061
See related: Ensembl:ENSG00000110031 MIM:605390; AllianceGenome:HGNC:14061
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: LDPL
Summary: 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]
Expression: Broad expression in lymph node (RPKM 15.3), appendix (RPKM 9.9) and 22 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11q12.1

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (58526871..58578891, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (58476376..58527888, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (58294344..58345606, complement)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

Paxillin family proteins Hic-5 and LPXN promote lipid storage by regulating the ubiquitination degradation of CIDEC.
Title: Paxillin family proteins Hic-5 and LPXN promote lipid storage by regulating the ubiquitination degradation of CIDEC.
LPXN may facilitate bladder cancer progression by upregulating the expression of S100P via PI3K/AKT pathway. These results provide a novel insight into the role of LPXN in tumorigenesis and progression of bladder cancer and potential therapeutic target of bladder cancer.
Title: Leupaxin Promotes Bladder Cancer Proliferation, Metastasis, and Angiogenesis Through the PI3K/AKT Pathway.
this is the first demonstration of a role for the leupaxin in the regulation of hepatocellular carcinoma progression, at least in part, by enhancing beta-catenin transcription activity.
Title: Regulation of β-catenin transcription activity by leupaxin in hepatocellular carcinoma.
The full-length leupaxin binds to the Pyk2-focal adhesion targeting domain.
Title: Structural Basis for the Interaction between Pyk2-FAT Domain and Leupaxin LD Repeats.
Authors demonstrate that LPXN directly influences cytoskeletal dynamics via interaction with the actin-binding protein CaD and regulates CaD phosphorylation by recruiting ERK to highly dynamic structures within PCa cells.
Title: Leupaxin stimulates adhesion and migration of prostate cancer cells through modulation of the phosphorylation status of the actin-binding protein caldesmon.
Results show that leupaxin has particular influence on the progression and invasion of breast cancer cells and may therefore represent an interesting candidate protein for diagnosis and therapeutic interventions.
Title: Leupaxin is expressed in mammary carcinoma and acts as a transcriptional activator of the estrogen receptor α.
first evidence of dynamic regulation of leupaxin localization and tyrosine phosphorylation by G-Protein Coupled Receptors
Title: Leupaxin is similar to paxillin in focal adhesion targeting and tyrosine phosphorylation but has distinct roles in cell adhesion and spreading.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Observational study of gene-disease association. (HuGE Navigator)
Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
leupaxin functions as a paxillin counterpart that potently suppresses the tyrosine phosphorylation of paxillin during integrin signaling.
Title: LIM domain-containing adaptor, leupaxin, localizes in focal adhesion and suppresses the integrin-induced tyrosine phosphorylation of paxillin.

Submit: New GeneRIF Correction See all GeneRIFs (17)

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

EBI GWAS Catalog

Description
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Susceptibility loci associated with specific and shared subtypes of lymphoid malignancies. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

LPXN_8932 (e-PCR)
- UniSTS:467749

RH123404 (e-PCR)
- UniSTS:135779

D11S2720 (e-PCR)
- UniSTS:151941

RH93068 (e-PCR)
- UniSTS:85919

Lpxn (e-PCR), detects polymorphism
- UniSTS:536531

STS-W46419 (e-PCR)
- UniSTS:69333

RH36139 (e-PCR)
- UniSTS:58582

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transcription coregulator activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in cell adhesion	NAS Non-traceable Author Statement more info	PubMed
involved_in endothelial cell migration	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of B cell receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of B cell receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of cell adhesion	IDA Inferred from Direct Assay more info	PubMed
involved_in protein-containing complex assembly	TAS Traceable Author Statement more info	PubMed
involved_in regulation of cell adhesion mediated by integrin	IEA Inferred from Electronic Annotation more info
involved_in signal transduction	TAS Traceable Author Statement more info	PubMed
involved_in substrate adhesion-dependent cell spreading	IBA Inferred from Biological aspect of Ancestor more info
involved_in transforming growth factor beta receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in cell projection	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in focal adhesion	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	HDA more info	PubMed
located_in nuclear speck	IDA Inferred from Direct Assay more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in perinuclear region of cytoplasm	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in podosome	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: leupaxin

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.

mRNA and Protein(s)

NM_001143995.3 → NP_001137467.1 leupaxin isoform 1

See identical proteins and their annotated locations for NP_001137467.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longest isoform (1).

Source sequence(s)

AK300955, BU688891

Consensus CDS

CCDS53635.1

UniProtKB/Swiss-Prot

O60711

Related

ENSP00000431284.1, ENST00000528954.5

Conserved Domains (4) summary

cd09339
Location:334 → 385

LIM4_Paxillin_like; The fourth LIM domain of the Paxillin-like protein family

cd09406
Location:155 → 209

LIM1_Leupaxin; The first LIM domain of Leupaxin

cd09408
Location:216 → 267

LIM2_Leupaxin; The second LIM domain of Leupaxin

cd09410
Location:275 → 327

LIM3_Leupaxin; The third LIM domain of Leupaxin
NM_001307951.2 → NP_001294880.1 leupaxin isoform 3

See identical proteins and their annotated locations for NP_001294880.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) uses an alternate splice site and lacks an exon in the 5' coding region, which results in use of an alternate start codon compared to variant 1. It encodes isoform 3, which is shorter than and has a distinct N-terminus compared to isoform 1.

Source sequence(s)

AA848029, AK299264, AK300955

Consensus CDS

CCDS76407.1

UniProtKB/TrEMBL

B7Z5P7

Related

ENSP00000461855.1, ENST00000528489.1

Conserved Domains (4) summary

cd09339
Location:309 → 360

LIM4_Paxillin_like; The fourth LIM domain of the Paxillin-like protein family

cd09406
Location:130 → 184

LIM1_Leupaxin; The first LIM domain of Leupaxin

cd09410
Location:250 → 302

LIM3_Leupaxin; The third LIM domain of Leupaxin

cl02475
Location:191 → 242

LIM; LIM is a small protein-protein interaction domain, containing two zinc fingers
NM_004811.3 → NP_004802.1 leupaxin isoform 2

See identical proteins and their annotated locations for NP_004802.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate 5' terminal exon, which results in a distinct 5' UTR and novel 5' coding region compared to variant 1. It encodes isoform 2, which is shorter than and has a distinct N-terminus compared to isoform 1.

Source sequence(s)

AF062075

Consensus CDS

CCDS7969.1

UniProtKB/Swiss-Prot

B2R8B4, B4DV71, O60711, Q53FW6, Q6FI07

Related

ENSP00000378512.2, ENST00000395074.7

Conserved Domains (4) summary

cd09339
Location:329 → 380

LIM4_Paxillin_like; The fourth LIM domain of the Paxillin-like protein family

cd09406
Location:150 → 204

LIM1_Leupaxin; The first LIM domain of Leupaxin

cd09408
Location:211 → 262

LIM2_Leupaxin; The second LIM domain of Leupaxin

cd09410
Location:270 → 322

LIM3_Leupaxin; The third LIM domain of Leupaxin

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

58526871..58578891 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047427882.1 → XP_047283838.1 leupaxin isoform X1

UniProtKB/TrEMBL

B7Z5P7
XM_011545390.3 → XP_011543692.1 leupaxin isoform X1

See identical proteins and their annotated locations for XP_011543692.1

UniProtKB/TrEMBL

B7Z5P7

Conserved Domains (4) summary

cd09339
Location:309 → 360

LIM4_Paxillin_like; The fourth LIM domain of the Paxillin-like protein family

cd09406
Location:130 → 184

LIM1_Leupaxin; The first LIM domain of Leupaxin

cd09410
Location:250 → 302

LIM3_Leupaxin; The third LIM domain of Leupaxin

cl02475
Location:191 → 242

LIM; LIM is a small protein-protein interaction domain, containing two zinc fingers
XM_017018579.3 → XP_016874068.1 leupaxin isoform X2
XM_047427883.1 → XP_047283839.1 leupaxin isoform X3
XM_011545393.4 → XP_011543695.1 leupaxin isoform X4

Conserved Domains (2) summary

cd09406
Location:155 → 209

LIM1_Leupaxin; The first LIM domain of Leupaxin

cl02475
Location:216 → 254

LIM; LIM is a small protein-protein interaction domain, containing two zinc fingers
XM_011545394.4 → XP_011543696.1 leupaxin isoform X5

Conserved Domains (2) summary

cd09406
Location:150 → 204

LIM1_Leupaxin; The first LIM domain of Leupaxin

cl02475
Location:211 → 249

LIM; LIM is a small protein-protein interaction domain, containing two zinc fingers
XM_047427884.1 → XP_047283840.1 leupaxin isoform X6
XM_047427885.1 → XP_047283841.1 leupaxin isoform X7