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

Gene ID: 3927, updated on 10-Oct-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
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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 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)

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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_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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

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