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    LASP1 LIM and SH3 protein 1 [ Homo sapiens (human) ]

    Gene ID: 3927, updated on 3-Dec-2024

    Summary

    Official Symbol
    LASP1provided by HGNC
    Official Full Name
    LIM and SH3 protein 1provided by HGNC
    Primary source
    HGNC:HGNC:6513
    See related
    Ensembl:ENSG00000002834 MIM:602920; AllianceGenome:HGNC:6513
    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
    MLN50; Lasp-1
    Summary
    This gene encodes a member of a subfamily of LIM proteins, characterized by a LIM motif and a domain of Src homology region 3, and also a member of the nebulin family of actin-binding proteins. The encoded protein is a cAMP and cGMP dependent signaling protein and binds to the actin cytoskeleton at extensions of the cell membrane. The encoded protein has been linked to metastatic breast cancer, hematopoetic tumors such as B-cell lymphomas, and colorectal cancer. [provided by RefSeq, Oct 2012]
    Expression
    Ubiquitous expression in small intestine (RPKM 79.0), duodenum (RPKM 59.7) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See LASP1 in Genome Data Viewer
    Location:
    17q12
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (38870058..38921770)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (39733108..39784846)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (37026311..37078023)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene CRISPRi-validated cis-regulatory element chr17.2188 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:37024565-37025165 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8443 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12083 Neighboring gene tRNA-Cys (anticodon GCA) 2-2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8444 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:37027573-37028174 Neighboring gene tRNA-Cys (anticodon GCA) 4-1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8445 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:37036179-37036761 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:37037929-37038511 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8446 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:37049153-37049726 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:37051813-37052334 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:37052335-37052856 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:37052857-37053378 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12084 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:37054945-37055466 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:37055467-37055986 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:37057617-37058242 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:37068165-37069124 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:37072928-37073106 Neighboring gene microRNA 6779 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:37078252-37078862 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr17:37085946-37086491 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr17:37086492-37087038 Neighboring gene LASP1 neighbor Neighboring gene F-box protein 47

    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?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables actin filament binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables cadherin binding HDA PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables monoatomic ion transmembrane transporter activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in monoatomic ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in monoatomic ion transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    located_in cortical actin cytoskeleton ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in focal adhesion HDA PubMed 
    is_active_in focal adhesion IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    LIM and SH3 domain protein 1
    Names
    metastatic lymph node gene 50 protein

    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_001271608.2NP_001258537.1  LIM and SH3 domain protein 1 isoform b

      See identical proteins and their annotated locations for NP_001258537.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an exon in the 5' coding region compared to variant 1. This variant represents translation initiation at an alternate AUG compared to variant 1; the 5'-most initiation codon, as used in variant 1, is associated with a weak Kozak sequence and a truncated ORF that would render the transcript a candidate for nonsense-mediated decay (NMD). Leaky scanning may allow translation initiation at the downstream AUG, which results in an isoform (2) that has a distinct N-terminus and is shorter than isoform 1.
      Source sequence(s)
      AK294704, AK295522, AK309933, BC007560, BQ961916, X82456
      Consensus CDS
      CCDS62164.1
      UniProtKB/Swiss-Prot
      Q14847
      UniProtKB/TrEMBL
      B4DIC4
      Related
      ENSP00000401048.2, ENST00000433206.6
      Conserved Domains (2) summary
      smart00227
      Location:4272
      NEBU; The Nebulin repeat is present also in Las1
      cd11934
      Location:147205
      SH3_Lasp1_C; C-terminal Src Homology 3 domain of LIM and SH3 domain protein 1
    2. NM_006148.4NP_006139.1  LIM and SH3 domain protein 1 isoform a

      See identical proteins and their annotated locations for NP_006139.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a).
      Source sequence(s)
      BC007560, DC333179, X82456
      Consensus CDS
      CCDS11331.1
      UniProtKB/Swiss-Prot
      B4DGQ0, Q14847, Q96ED2, Q96IG0
      UniProtKB/TrEMBL
      A8K1D2
      Related
      ENSP00000325240.6, ENST00000318008.11
      Conserved Domains (3) summary
      smart00227
      Location:98128
      NEBU; The Nebulin repeat is present also in Las1
      cd09447
      Location:557
      LIM_LASP; The LIM domain of LIM and SH3 Protein (LASP)
      cd11934
      Location:203261
      SH3_Lasp1_C; C-terminal Src Homology 3 domain of LIM and SH3 domain protein 1

    RNA

    1. NR_073384.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) contains an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the longest open reading frame is in a different frame compared to variant 1, and there is no support for the predicted protein encoded by this ORF.
      Source sequence(s)
      AK095958, AK309933, BC007560, DC333179, X82456

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      38870058..38921770
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047435965.1XP_047291921.1  LIM and SH3 domain protein 1 isoform X1

      UniProtKB/TrEMBL
      A8K1D2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      39733108..39784846
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)