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

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: mouse all
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Genomic context

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_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

E7-mediated repression of miR-203 promotes LASP1-dependent proliferation in HPV-positive cervical cancer.
Title: E7-mediated repression of miR-203 promotes LASP1-dependent proliferation in HPV-positive cervical cancer.
Cholesterol uptake in the intestine is regulated by the LASP1-AKT-NPC1L1 signaling pathway.
Title: Cholesterol uptake in the intestine is regulated by the LASP1-AKT-NPC1L1 signaling pathway.
Long noncoding RNA PPP1R14B-AS1 imitates microRNA-134-3p to facilitate breast cancer progression by upregulating LIM and SH3 protein 1.
Title: Long noncoding RNA PPP1R14B-AS1 imitates microRNA-134-3p to facilitate breast cancer progression by upregulating LIM and SH3 protein 1.
Circular RNA hsa_circ_0003892 promotes the development of papillary thyroid carcinoma by regulating the miR-326/LASP1 axis.
Title: Circular RNA hsa_circ_0003892 promotes the development of papillary thyroid carcinoma by regulating the miR-326/LASP1 axis.
TRIM15 forms a regulatory loop with the AKT/FOXO1 axis and LASP1 to modulate the sensitivity of HCC cells to TKIs.
Title: TRIM15 forms a regulatory loop with the AKT/FOXO1 axis and LASP1 to modulate the sensitivity of HCC cells to TKIs.
LncRNA CBR3-AS1 predicts a poor prognosis and promotes cervical cancer progression through the miR-3163/LASP1 pathway.
Title: LncRNA CBR3-AS1 predicts a poor prognosis and promotes cervical cancer progression through the miR-3163/LASP1 pathway.
Circ_0001535 Facilitates Tumor Malignant Progression by miR-485-5p/LASP1 Axis in Colorectal Cancer
Title: Circ_0001535 Facilitates Tumor Malignant Progression by miR-485-5p/LASP1 Axis in Colorectal Cancer.
CERS6-AS1 Facilitates Oncogenesis and Restrains Ferroptosis in Papillary Thyroid Carcinoma by Serving as a ceRNA through miR-497-5p/LASP1 Axis.
Title: CERS6-AS1 Facilitates Oncogenesis and Restrains Ferroptosis in Papillary Thyroid Carcinoma by Serving as a ceRNA through miR-497-5p/LASP1 Axis.
Circ_0075804 Regulates the Expression of LASP1 by Targeting miR-1287-5p and Thus Affects the Biological Process of Retinoblastoma.
Title: Circ_0075804 Regulates the Expression of LASP1 by Targeting miR-1287-5p and Thus Affects the Biological Process of Retinoblastoma.
LIM and SH3 protein 1 (LASP1) differentiates malignant chordomas from less malignant chondrosarcomas.
Title: LIM and SH3 protein 1 (LASP1) differentiates malignant chordomas from less malignant chondrosarcomas.

Submit: New GeneRIF Correction See all GeneRIFs (106)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D17S838 (e-PCR), detects polymorphism
- UniSTS:36897

CSSM15 (e-PCR), detects polymorphism
- UniSTS:251072

RM186 (e-PCR), detects polymorphism
- UniSTS:53710

A008J32 (e-PCR)
- UniSTS:58593

IB1521 (e-PCR)
- UniSTS:79615

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 more info	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 more info	PubMed
is_active_in focal adhesion	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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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)

NM_001271608.2 → NP_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:42 → 72

NEBU; The Nebulin repeat is present also in Las1

cd11934
Location:147 → 205

SH3_Lasp1_C; C-terminal Src Homology 3 domain of LIM and SH3 domain protein 1
NM_006148.4 → NP_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:98 → 128

NEBU; The Nebulin repeat is present also in Las1

cd09447
Location:5 → 57

LIM_LASP; The LIM domain of LIM and SH3 Protein (LASP)

cd11934
Location:203 → 261

SH3_Lasp1_C; C-terminal Src Homology 3 domain of LIM and SH3 domain protein 1

RNA

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