LAP3 leucine aminopeptidase 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: LAP3provided by HGNC
Official Full Name: leucine aminopeptidase 3provided by HGNC
Primary source: HGNC:HGNC:18449
See related: Ensembl:ENSG00000002549 MIM:170250; AllianceGenome:HGNC:18449
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: LAP; PEPS; LAPEP; HEL-S-106
Summary: Predicted to enable peptidase activity. Predicted to be involved in proteolysis. Located in several cellular components, including extracellular exosome; focal adhesion; and mitochondrion. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in appendix (RPKM 73.5), lymph node (RPKM 68.4) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 4p15.32

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (17577198..17607970)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (17559362..17590256)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (17578821..17609593)

Chromosome 4 - NC_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Cholesterol-induced leucine aminopeptidase 3 (LAP3) upregulation inhibits cell autophagy in pathogenesis of NAFLD.
Title: Cholesterol-induced leucine aminopeptidase 3 (LAP3) upregulation inhibits cell autophagy in pathogenesis of NAFLD.
Urinary leucine aminopeptidase 3 in population environmentally exposed to airborne arsenic.
Title: Urinary leucine aminopeptidase 3 in population environmentally exposed to airborne arsenic.
Proteomic Analysis of Hepatocellular Carcinoma Tissues With Encapsulation Shows Up-regulation of Leucine Aminopeptidase 3 and Phosphoenolpyruvate Carboxykinase 2.
Title: Proteomic Analysis of Hepatocellular Carcinoma Tissues With Encapsulation Shows Up-regulation of Leucine Aminopeptidase 3 and Phosphoenolpyruvate Carboxykinase 2.
Leucine aminopeptidase 3 promotes migration and invasion of breast cancer cells through upregulation of fascin and matrix metalloproteinases-2/9 expression.
Title: Leucine aminopeptidase 3 promotes migration and invasion of breast cancer cells through upregulation of fascin and matrix metalloproteinases-2/9 expression.
LAP3 might be a new prognostic factor and be close correlation with glioma cell growth, migration, invasion.
Title: LAP3 promotes glioma progression by regulating proliferation, migration and invasion of glioma cells.
our results indicated that up-regulated expression of LAP3 might contribute to the proliferation and metastasis of hepatocellular carcinoma
Title: Expression of leucine aminopeptidase 3 (LAP3) correlates with prognosis and malignant development of human hepatocellular carcinoma (HCC).
Overexpression of leucine aminopeptidase 3 contributes to malignant development of human esophageal squamous cell carcinoma.
Title: Overexpression of leucine aminopeptidase 3 contributes to malignant development of human esophageal squamous cell carcinoma.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
results suggest that Lys528 is important for maximal activity of adipocyte-derived LAP by maintaining the appropriate structure of the substrate pocket of the enzyme
Title: Reduced activity of the hypertension-associated Lys528Arg mutant of human adipocyte-derived leucine aminopeptidase (A-LAP)/ER-aminopeptidase-1.

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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

SHGC-59685 (e-PCR)
- UniSTS:13074

SHGC-50545 (e-PCR)
- UniSTS:48150

SHGC-24779 (e-PCR)
- UniSTS:48151

SHGC-79088 (e-PCR)
- UniSTS:95847

RH65094 (e-PCR)
- UniSTS:26090

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables aminopeptidase activity	NAS Non-traceable Author Statement more info	PubMed
enables carboxypeptidase activity	IEA Inferred from Electronic Annotation more info
enables manganese ion binding	IEA Inferred from Electronic Annotation more info
enables metalloaminopeptidase activity	IEA Inferred from Electronic Annotation more info
enables metalloexopeptidase activity	NAS Non-traceable Author Statement more info	PubMed
enables peptidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in proteolysis	IBA Inferred from Biological aspect of Ancestor more info
involved_in proteolysis	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular exosome	HDA more info	PubMed
located_in focal adhesion	HDA more info	PubMed
located_in mitochondrion	HTP more info	PubMed
located_in nucleus	HDA more info	PubMed

General protein information

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Preferred Names: cytosol aminopeptidase

Names: cysteinylglycine-S-conjugate dipeptidase; epididymis secretory protein Li 106; leucyl aminopeptidase; peptidase S; proline aminopeptidase; prolyl aminopeptidase

NP_056991.2

EC 3.4.11.1

EC 3.4.11.5

EC 3.4.13.23

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_015907.3 → NP_056991.2 cytosol aminopeptidase

See identical proteins and their annotated locations for NP_056991.2

Status: VALIDATED

Source sequence(s)

AC006160

Consensus CDS

CCDS3422.1

UniProtKB/Swiss-Prot

B3KMQ3, P28838, Q6IAM6, Q6P0L6, Q9UQE3

UniProtKB/TrEMBL

V9HW38

Related

ENSP00000226299.4, ENST00000226299.9

Conserved Domains (1) summary

cd00433
Location:33 → 511

Peptidase_M17; Cytosol aminopeptidase family, N-terminal and catalytic domains. Family M17 contains zinc- and manganese-dependent exopeptidases ( EC 3.4.11.1), including leucine aminopeptidase. They catalyze removal of amino acids from the N-terminus of a protein and ...