Format

Send to:

Choose Destination

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

Gene ID: 3927, updated on 13-Jan-2019

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
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

Genomic context

See LASP1 in Genome Data Viewer
Location:
17q12
Exon count:
8
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 17 NC_000017.11 (38869859..38921770)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (37026112..37078023)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene tRNA-Cys (GCA) 2-2 Neighboring gene tRNA-Cys (GCA) 4-1 Neighboring gene microRNA 6779 Neighboring gene long intergenic non-protein coding RNA 672 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 FunctionsWhat's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
SH3/SH2 adaptor activity TAS
Traceable Author Statement
more info
PubMed 
actin filament binding IEA
Inferred from Electronic Annotation
more info
 
cadherin binding HDA PubMed 
ion transmembrane transporter activity ISS
Inferred from Sequence or Structural Similarity
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
ion transport ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of signal transduction IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cortical actin cytoskeleton ISS
Inferred from Sequence or Structural Similarity
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
focal adhesion HDA PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

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_001271608.1NP_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)
    AC110749, AK294704, AK295522, AK309933, BC007560, BQ961916, DC324561, 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
    Q14847
    UniProtKB/TrEMBL
    A0A024R1S8
    Related
    ENSP00000325240.6, ENST00000318008.10
    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_073384.1 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)
    AC110749, AK095958, AK309933, BC007560, DC333179, X82456

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p12 Primary Assembly

    Range
    38869859..38921770
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Support Center