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LASP1 (LIM and SH3 protein)

Written2000-03Marie-Christine Rio
I.G.B.M.C, 1, rue Laurent FRIES, BP 163 67404 ILLKIRH, France
Updated2005-08Sabine Strehl
Children's Cancer Research Institute, Kinderspitalgasse 6, A-1090 Vienna, Austria

(Note : for Links provided by Atlas : click)

Identity

Alias_symbol (synonym)MLN50
Lasp-1
Other aliasMLN50, EVI149
HGNC (Hugo) LASP1
LocusID (NCBI) 3927
Atlas_Id 203
Location 17q12  [Link to chromosome band 17q12]
Location_base_pair Starts at 38869859 and ends at 38921770 bp from pter ( according to hg19-Feb_2009)  [Mapping LASP1.png]
Local_order from centromere to telomere are: TRAF4 (alias MLN62/CART1), MLLT6 (alias AF17), LASP1, STARD3 (alias MLN64), ERBB2 (alias c-erbB2), and RARA
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
BACE2 (21q22.2) / LASP1 (17q12)CTTN (11q13.3) / LASP1 (17q12)KMT2A (11q23.3) / LASP1 (17q12)
LASP1 (17q12) / BCL2L2-PABPN1 (14q11.2)LASP1 (17q12) / CPXM1 (20p13)LASP1 (17q12) / EEF1A1 (6q13)
LASP1 (17q12) / KMT2A (11q23.3)LASP1 (17q12) / LASP1 (17q12)LASP1 (17q12) / LINC00672 (17q12)
LASP1 (17q12) / MTMR1 (Xq28)LASP1 (17q12) / PPP1R1B (17q12)LASP1 (17q12) / RHBDL3 (17q11.2)
RPL28 (19q13.42) / LASP1 (17q12)TRPS1 (8q23.3) / LASP1 (17q12)UBA1 (Xp11.23) / LASP1 (17q12)
WIPF2 (17q21.2) / LASP1 (17q12)

DNA/RNA

Description LASP1 encompasses 51.65 kb on the genomic level and consists of 7 exons
Transcription 3845 bp mRNA, 783 bp coding sequence

Protein

Description 261 amino acids; 29 kDa. LASP1 encodes a member of a LIM (Lin-11, Isl-1 and Mec-3) protein subfamily and is characterized by a LIM motif (cysteine-rich LIM/double zinc finger motif) at the N-terminus, an SH3 domain (Src homology region 3) at the C-terminus, and two actin-binding domains in the core of the protein
Expression ubiquitous
Localisation intracellular, cytoplasmic; associated with the F-actin rich cortical cytoskeleton
Function LASP1 plays an important role in the regulation of dynamic actin-based, cytoskeletal activities and cell motility. Agonist-dependent changes in LASP1 phosphorylation may also serve to regulate actin-associated ion transport activities, not only in the parietal cell but also in certain other F-actin-rich secretory epithelial cell types. Together, (LIM-) nebulette, Lasp-1, and zyxin may play an important role in the organization of focal adhesions.
Homology LASP family of proteins: actin-binding repeats similar to those in LASP1 are also present in other nebulin-related proteins such as NEBL (nebulette, 107 kD actin-binding Z-disk protein) and NRAP (nebulin-related anchoring protein); NRAP also contains an N-terminal LIM domain and NEB (nebulin) a C-terminal SH3 domain, both of which are highly homologous to the respective domains of LASP1.

Implicated in

Note
  
Entity t(11;17)(q23;q12) --> KMT2A-LASP1
Disease infant AML-M4; only one case described so far
Abnormal Protein the MLL-LASP1 chimeric protein consists of the AT-hook DNA-binding domain and the methyltransferase motif including the CXXC zinc-finger domain of MLL and the SH3 domain of LASP1
  
  
Entity breast carcinomas
Disease 17q11-q21 amplification is found in about 25% of primary breast carcinomas; simultaneous amplification and overexpression of LASP1 and ERBB2
Prognosis poor clinical outcome; increase risk of relapse
  

Bibliography

Two distinct amplified regions at 17q11-q21 involved in human primary breast cancer.
Bièche I, Tomasetto C, Régnier CH, Moog-Lutz C, Rio MC, Lidereau R
Cancer research. 1996 ; 56 (17) : 3886-3890.
PMID 8752152
 
Actin binding of human LIM and SH3 protein is regulated by cGMP- and cAMP-dependent protein kinase phosphorylation on serine 146.
Butt E, Gambaryan S, Göttfert N, Galler A, Marcus K, Meyer HE
The Journal of biological chemistry. 2003 ; 278 (18) : 15601-15607.
PMID 12571245
 
Lasp-1 binds to non-muscle F-actin in vitro and is localized within multiple sites of dynamic actin assembly in vivo.
Chew CS, Chen X, Parente JA Jr, Tarrer S, Okamoto C, Qin HY
Journal of cell science. 2002 ; 115 (Pt 24) : 4787-4799.
PMID 12432067
 
The LIM and SH3 domain-containing protein, lasp-1, may link the cAMP signaling pathway with dynamic membrane restructuring activities in ion transporting epithelia.
Chew CS, Parente JA Jr, Chen X, Chaponnier C, Cameron RS
Journal of cell science. 2000 ; 113 ( Pt 11) : 2035-2045.
PMID 10806114
 
Phosphorylation of mouse LASP-1 on threonine 156 by cAMP- and cGMP-dependent protein kinase.
Keicher C, Gambaryan S, Schulze E, Marcus K, Meyer HE, Butt E
Biochemical and biophysical research communications. 2004 ; 324 (1) : 308-316.
PMID 15465019
 
Zyxin interacts with the SH3 domains of the cytoskeletal proteins LIM-nebulette and Lasp-1.
Li B, Zhuang L, Trueb B
The Journal of biological chemistry. 2004 ; 279 (19) : 20401-20410.
PMID 15004028
 
Regulation of cell migration and survival by focal adhesion targeting of Lasp-1.
Lin YH, Park ZY, Lin D, Brahmbhatt AA, Rio MC, Yates JR 3rd, Klemke RL
The Journal of cell biology. 2004 ; 165 (3) : 421-432.
PMID 15138294
 
Actin-binding proteins in a postsynaptic preparation: Lasp-1 is a component of central nervous system synapses and dendritic spines.
Phillips GR, Anderson TR, Florens L, Gudas C, Magda G, Yates JR 3rd, Colman DR
Journal of neuroscience research. 2004 ; 78 (1) : 38-48.
PMID 15372503
 
Lasp-1, a novel type of actin-binding protein accumulating in cell membrane extensions.
Schreiber V, Moog-Lutz C, Régnier CH, Chenard MP, Boeuf H, Vonesch JL, Tomasetto C, Rio MC
Molecular medicine (Cambridge, Mass.). 1998 ; 4 (10) : 675-687.
PMID 9848085
 
The human LASP1 gene is fused to MLL in an acute myeloid leukemia with t(11;17)(q23;q21).
Strehl S, Borkhardt A, Slany R, Fuchs UE, König M, Haas OA
Oncogene. 2003 ; 22 (1) : 157-160.
PMID 12527918
 
Identification of four novel human genes amplified and overexpressed in breast carcinoma and localized to the q11-q21.3 region of chromosome 17.
Tomasetto C, Régnier C, Moog-Lutz C, Mattei MG, Chenard MP, Lidereau R, Basset P, Rio MC
Genomics. 1995 ; 28 (3) : 367-376.
PMID 7490069
 

Citation

This paper should be referenced as such :
Strehl, S
LASP1 (LIM, SH3 protein)
Atlas Genet Cytogenet Oncol Haematol. 2005;9(4):306-307.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/Lasp1ID203.html
History of this paper:
Rio, MC. LASP1 (LIM, actin binding, SH3 protein). Atlas Genet Cytogenet Oncol Haematol. 2000;4(2):51-51.
http://documents.irevues.inist.fr/bitstream/handle/2042/37606/03-2000-Lasp1ID203.pdf


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 2 ]
  t(11;17)(q23;q12-21) KMT2A/MMLT6
t(11;17)(q23;q12-21) KMT2A/LASP1


External links

Nomenclature
HGNC (Hugo)LASP1   6513
Cards
AtlasLasp1ID203
Entrez_Gene (NCBI)LASP1  3927  LIM and SH3 protein 1
AliasesLasp-1; MLN50
GeneCards (Weizmann)LASP1
Ensembl hg19 (Hinxton)ENSG00000002834 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000002834 [Gene_View]  chr17:38869859-38921770 [Contig_View]  LASP1 [Vega]
ICGC DataPortalENSG00000002834
TCGA cBioPortalLASP1
AceView (NCBI)LASP1
Genatlas (Paris)LASP1
WikiGenes3927
SOURCE (Princeton)LASP1
Genetics Home Reference (NIH)LASP1
Genomic and cartography
GoldenPath hg38 (UCSC)LASP1  -     chr17:38869859-38921770 +  17q12   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)LASP1  -     17q12   [Description]    (hg19-Feb_2009)
EnsemblLASP1 - 17q12 [CytoView hg19]  LASP1 - 17q12 [CytoView hg38]
Mapping of homologs : NCBILASP1 [Mapview hg19]  LASP1 [Mapview hg38]
OMIM602920   
Gene and transcription
Genbank (Entrez)AK095958 AK289847 AK294704 AK295522 AK296092
RefSeq transcript (Entrez)NM_001271608 NM_006148
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)LASP1
Cluster EST : UnigeneHs.741156 [ NCBI ]
CGAP (NCI)Hs.741156
Alternative Splicing GalleryENSG00000002834
Gene ExpressionLASP1 [ NCBI-GEO ]   LASP1 [ EBI - ARRAY_EXPRESS ]   LASP1 [ SEEK ]   LASP1 [ MEM ]
Gene Expression Viewer (FireBrowse)LASP1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3927
GTEX Portal (Tissue expression)LASP1
Human Protein AtlasENSG00000002834-LASP1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ14847   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ14847  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ14847
Splice isoforms : SwissVarQ14847
PhosPhoSitePlusQ14847
Domaine pattern : Prosite (Expaxy)LIM_DOMAIN_1 (PS00478)    LIM_DOMAIN_2 (PS50023)    NEBULIN (PS51216)    SH3 (PS50002)   
Domains : Interpro (EBI)Nebulin_repeat    SH3_domain    Znf_LIM   
Domain families : Pfam (Sanger)LIM (PF00412)    Nebulin (PF00880)    SH3_9 (PF14604)   
Domain families : Pfam (NCBI)pfam00412    pfam00880    pfam14604   
Domain families : Smart (EMBL)LIM (SM00132)  NEBU (SM00227)  SH3 (SM00326)  
Conserved Domain (NCBI)LASP1
DMDM Disease mutations3927
Blocks (Seattle)LASP1
PDB (SRS)3I35   
PDB (PDBSum)3I35   
PDB (IMB)3I35   
PDB (RSDB)3I35   
Structural Biology KnowledgeBase3I35   
SCOP (Structural Classification of Proteins)3I35   
CATH (Classification of proteins structures)3I35   
SuperfamilyQ14847
Human Protein Atlas [tissue]ENSG00000002834-LASP1 [tissue]
Peptide AtlasQ14847
HPRD04229
IPIIPI00000861   IPI00386803   IPI00909678   IPI00909939   IPI00909481   IPI00883946   
Protein Interaction databases
DIP (DOE-UCLA)Q14847
IntAct (EBI)Q14847
FunCoupENSG00000002834
BioGRIDLASP1
STRING (EMBL)LASP1
ZODIACLASP1
Ontologies - Pathways
QuickGOQ14847
Ontology : AmiGOSH3/SH2 adaptor activity  protein binding  cytoplasm  focal adhesion  ion transport  zinc ion binding  positive regulation of signal transduction  ion transmembrane transporter activity  cortical actin cytoskeleton  ion transmembrane transport  cadherin binding  actin filament binding  extracellular exosome  
Ontology : EGO-EBISH3/SH2 adaptor activity  protein binding  cytoplasm  focal adhesion  ion transport  zinc ion binding  positive regulation of signal transduction  ion transmembrane transporter activity  cortical actin cytoskeleton  ion transmembrane transport  cadherin binding  actin filament binding  extracellular exosome  
NDEx NetworkLASP1
Atlas of Cancer Signalling NetworkLASP1
Wikipedia pathwaysLASP1
Orthology - Evolution
OrthoDB3927
GeneTree (enSembl)ENSG00000002834
Phylogenetic Trees/Animal Genes : TreeFamLASP1
HOVERGENQ14847
HOGENOMQ14847
Homologs : HomoloGeneLASP1
Homology/Alignments : Family Browser (UCSC)LASP1
Gene fusions - Rearrangements
Fusion : COSMICKMT2A [11q23.3]  -  LASP1 [17q12]  [fusion_1886]  [fusion_1887]  
Fusion : COSMICLASP1 [17q12]  -  KMT2A [11q23.3]  [fusion_1888]  [fusion_1889]  
Tumor Fusion PortalLASP1
Fusion : TICdbKMT2A [11q23.3]  -  LASP1 [17q12]
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerLASP1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)LASP1
dbVarLASP1
ClinVarLASP1
1000_GenomesLASP1 
Exome Variant ServerLASP1
ExAC (Exome Aggregation Consortium)ENSG00000002834
GNOMAD BrowserENSG00000002834
Genetic variants : HAPMAP3927
Genomic Variants (DGV)LASP1 [DGVbeta]
DECIPHERLASP1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisLASP1 
Mutations
ICGC Data PortalLASP1 
TCGA Data PortalLASP1 
Broad Tumor PortalLASP1
OASIS PortalLASP1 [ Somatic mutations - Copy number]
Cancer Gene: CensusLASP1 
Somatic Mutations in Cancer : COSMICLASP1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDLASP1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch LASP1
DgiDB (Drug Gene Interaction Database)LASP1
DoCM (Curated mutations)LASP1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)LASP1 (select a term)
intoGenLASP1
NCG5 (London)LASP1
Cancer3DLASP1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM602920   
Orphanet
DisGeNETLASP1
MedgenLASP1
Genetic Testing Registry LASP1
NextProtQ14847 [Medical]
TSGene3927
GENETestsLASP1
Target ValidationLASP1
Huge Navigator LASP1 [HugePedia]
snp3D : Map Gene to Disease3927
BioCentury BCIQLASP1
ClinGenLASP1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD3927
Chemical/Pharm GKB GenePA30298
Clinical trialLASP1
Miscellaneous
canSAR (ICR)LASP1 (select the gene name)
Probes
Litterature
PubMed80 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineLASP1
EVEXLASP1
GoPubMedLASP1
iHOPLASP1
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Nov 21 14:54:21 CET 2017

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