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LPXN leupaxin [ Homo sapiens (human) ]

Gene ID: 9404, updated on 5-Jan-2022

Summary

Official Symbol
LPXNprovided by HGNC
Official Full Name
leupaxinprovided by HGNC
Primary source
HGNC:HGNC:14061
See related
Ensembl:ENSG00000110031 MIM:605390
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
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Genomic context

See LPXN in Genome Data Viewer
Location:
11q12.1
Exon count:
13
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (58526871..58578239, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (58294344..58345606, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene olfactory receptor family 5 subfamily B member 12 Neighboring gene uncharacterized LOC105369313 Neighboring gene olfactory receptor family 5 subfamily B member 21 Neighboring gene ZFP91-CNTF readthrough (NMD candidate) Neighboring gene ZFP91 zinc finger protein, atypical E3 ubiquitin ligase Neighboring gene ciliary neurotrophic factor

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
GeneReviews: Not available
Susceptibility loci associated with specific and shared subtypes of lymphoid malignancies.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables transcription coregulator activity IDA
Inferred from Direct Assay
more info
PubMed 
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 
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
 
is_active_in focal adhesion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in focal adhesion IDA
Inferred from Direct Assay
more info
PubMed 
located_in membrane HDA 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
 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in podosome IDA
Inferred from Direct Assay
more info
PubMed 

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)

  1. NM_001143995.3NP_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:334385
    LIM4_Paxillin_like; The fourth LIM domain of the Paxillin-like protein family
    cd09406
    Location:155209
    LIM1_Leupaxin; The first LIM domain of Leupaxin
    cd09408
    Location:216267
    LIM2_Leupaxin; The second LIM domain of Leupaxin
    cd09410
    Location:275327
    LIM3_Leupaxin; The third LIM domain of Leupaxin
  2. NM_001307951.2NP_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/Swiss-Prot
    O60711
    UniProtKB/TrEMBL
    B7Z5P7
    Related
    ENSP00000461855.1, ENST00000528489.1
    Conserved Domains (4) summary
    cd09339
    Location:309360
    LIM4_Paxillin_like; The fourth LIM domain of the Paxillin-like protein family
    cd09406
    Location:130184
    LIM1_Leupaxin; The first LIM domain of Leupaxin
    cd09410
    Location:250302
    LIM3_Leupaxin; The third LIM domain of Leupaxin
    cl02475
    Location:191242
    LIM; LIM is a small protein-protein interaction domain, containing two zinc fingers
  3. NM_004811.3NP_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
    O60711
    Related
    ENSP00000378512.2, ENST00000395074.7
    Conserved Domains (4) summary
    cd09339
    Location:329380
    LIM4_Paxillin_like; The fourth LIM domain of the Paxillin-like protein family
    cd09406
    Location:150204
    LIM1_Leupaxin; The first LIM domain of Leupaxin
    cd09408
    Location:211262
    LIM2_Leupaxin; The second LIM domain of Leupaxin
    cd09410
    Location:270322
    LIM3_Leupaxin; The third LIM domain of Leupaxin

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    58526871..58578239 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006718750.1XP_006718813.1  leupaxin isoform X2

    See identical proteins and their annotated locations for XP_006718813.1

    Conserved Domains (3) summary
    cd09339
    Location:233284
    LIM4_Paxillin_like; The fourth LIM domain of the Paxillin-like protein family
    cd09410
    Location:174226
    LIM3_Leupaxin; The third LIM domain of Leupaxin
    cl02475
    Location:54108
    LIM; LIM is a small protein-protein interaction domain, containing two zinc fingers
  2. XM_011545391.3XP_011543693.1  leupaxin isoform X1

    See identical proteins and their annotated locations for XP_011543693.1

    UniProtKB/TrEMBL
    B7Z5P7
    Conserved Domains (4) summary
    cd09339
    Location:309360
    LIM4_Paxillin_like; The fourth LIM domain of the Paxillin-like protein family
    cd09406
    Location:130184
    LIM1_Leupaxin; The first LIM domain of Leupaxin
    cd09410
    Location:250302
    LIM3_Leupaxin; The third LIM domain of Leupaxin
    cl02475
    Location:191242
    LIM; LIM is a small protein-protein interaction domain, containing two zinc fingers
  3. XM_011545390.2XP_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:309360
    LIM4_Paxillin_like; The fourth LIM domain of the Paxillin-like protein family
    cd09406
    Location:130184
    LIM1_Leupaxin; The first LIM domain of Leupaxin
    cd09410
    Location:250302
    LIM3_Leupaxin; The third LIM domain of Leupaxin
    cl02475
    Location:191242
    LIM; LIM is a small protein-protein interaction domain, containing two zinc fingers
  4. XM_011545388.3XP_011543690.1  leupaxin isoform X1

    See identical proteins and their annotated locations for XP_011543690.1

    UniProtKB/TrEMBL
    B7Z5P7
    Conserved Domains (4) summary
    cd09339
    Location:309360
    LIM4_Paxillin_like; The fourth LIM domain of the Paxillin-like protein family
    cd09406
    Location:130184
    LIM1_Leupaxin; The first LIM domain of Leupaxin
    cd09410
    Location:250302
    LIM3_Leupaxin; The third LIM domain of Leupaxin
    cl02475
    Location:191242
    LIM; LIM is a small protein-protein interaction domain, containing two zinc fingers
  5. XM_017018579.2XP_016874068.1  leupaxin isoform X3

  6. XM_011545393.3XP_011543695.1  leupaxin isoform X4

    Conserved Domains (2) summary
    cd09406
    Location:155209
    LIM1_Leupaxin; The first LIM domain of Leupaxin
    cl02475
    Location:216254
    LIM; LIM is a small protein-protein interaction domain, containing two zinc fingers
  7. XM_011545394.3XP_011543696.1  leupaxin isoform X5

    Conserved Domains (2) summary
    cd09406
    Location:150204
    LIM1_Leupaxin; The first LIM domain of Leupaxin
    cl02475
    Location:211249
    LIM; LIM is a small protein-protein interaction domain, containing two zinc fingers
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