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    LPXN leupaxin [ Homo sapiens (human) ]

    Gene ID: 9404, updated on 2-Nov-2024

    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
    NEW
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    Try the new Transcript table

    Genomic context

    See LPXN in Genome Data Viewer
    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_000011.10Genomic 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 Sharpr-MPRA regulatory region 15251 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4734 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4735 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4736 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4737 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:58345528-58346220 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:58346914-58347605 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 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

    EBI GWAS Catalog

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

    Interactions

    General gene information

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables metal ion binding  
    enables protein binding PubMed 
    enables transcription coregulator activity PubMed 
    Component Evidence Code Pubs
    located_in cell projection  
    located_in cytoplasm PubMed 
    located_in cytosol  
    located_in focal adhesion PubMed 
    located_in membrane PubMed 
    located_in nuclear speck  
    located_in nucleus PubMed 
    located_in perinuclear region of cytoplasm  
    located_in plasma membrane PubMed 
    located_in podosome PubMed 

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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/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
      B2R8B4, B4DV71, O60711, Q53FW6, Q6FI07
      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: 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

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      58526871..58578891 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047427882.1XP_047283838.1  leupaxin isoform X1

      UniProtKB/TrEMBL
      B7Z5P7
    2. XM_011545390.3XP_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
    3. XM_017018579.3XP_016874068.1  leupaxin isoform X2

    4. XM_047427883.1XP_047283839.1  leupaxin isoform X3

    5. XM_011545393.4XP_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
    6. XM_011545394.4XP_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
    7. XM_047427884.1XP_047283840.1  leupaxin isoform X6

    8. XM_047427885.1XP_047283841.1  leupaxin isoform X7

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      58476376..58527888 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054370534.1XP_054226509.1  leupaxin isoform X1

      UniProtKB/TrEMBL
      B7Z5P7
    2. XM_054370533.1XP_054226508.1  leupaxin isoform X1

      UniProtKB/TrEMBL
      B7Z5P7
    3. XM_054370535.1XP_054226510.1  leupaxin isoform X2

    4. XM_054370536.1XP_054226511.1  leupaxin isoform X3

    5. XM_054370537.1XP_054226512.1  leupaxin isoform X4

    6. XM_054370538.1XP_054226513.1  leupaxin isoform X5

    7. XM_054370539.1XP_054226514.1  leupaxin isoform X6

    8. XM_054370540.1XP_054226515.1  leupaxin isoform X7

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