LVRN laeverin [Homo sapiens (human)] - Gene

Summary

Official Symbol: LVRNprovided by HGNC
Official Full Name: laeverinprovided by HGNC
Primary source: HGNC:HGNC:26904
See related: Ensembl:ENSG00000172901 MIM:610046; AllianceGenome:HGNC:26904
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: APQ; AQPEP; TAQPEP
Summary: Predicted to enable metalloaminopeptidase activity; peptide binding activity; and zinc ion binding activity. Predicted to be involved in peptide catabolic process and proteolysis. Predicted to be active in cytoplasm; extracellular space; and membrane. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in fat (RPKM 11.6), placenta (RPKM 10.8) and 1 other tissue See more
Orthologs: mouse all
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Genomic context

Location:: 5q23.1

Exon count:: 25

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (115962475..116027606)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (116474883..116539987)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (115298172..115363303)

Chromosome 5 - NC_000005.10 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: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

PRG2 and AQPEP are misexpressed in fetal membranes in placenta previa and percretadagger.
Title: PRG2 and AQPEP are misexpressed in fetal membranes in placenta previa and percreta†.
Overexpression of LVRN impedes the invasion of trophoblasts by inhibiting epithelial-mesenchymal transition.
Title: Overexpression of LVRN impedes the invasion of trophoblasts by inhibiting epithelial-mesenchymal transition.
First trimester maternal serum laeverin level cannot be used to predict preeclampsia.
Title: Maternal serum laeverin (aminopeptidase Q) measured in the first trimester of pregnancy does not predict preeclampsia.
Laeverin is expressed in all trophoblast cell types of normal and preeclamptic placentas. Expression pattern of laeverin in trophoblast cells is heterogeneous and not necessarily membrane-bound.
Title: Laeverin protein expression in normal and preeclamptic placentas using tissue microarray analysis.
In preeclamptic placentas, laeverin is experssed in the cytoplasm and microvesicles, rather than the cell membrane. Laeverin appears to be involved in trophoblast cell migration and invasion through interaction with integrins and matrix metalloprotease 1.
Title: Placental expression of aminopeptidase-Q (laeverin) and its role in the pathophysiology of preeclampsia.
Laeverin is a specific cell-surface marker for human extravillous trophoblast (EVT) and plays a regulatory role in EVT migration.
Title: Laeverin/aminopeptidase Q induces trophoblast invasion during human early placentation.
Replacement of glutamine-238 with alanine caused a significant change in substrate specificity rather than a decrease in enzymatic activity.
Title: Involvement of glutamine-238 in the substrate specificity of human laeverin/aminopeptidase Q.
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.
These results indicate that His(379) of laeverin plays essential roles in its distinctive enzymatic properties and contributes to maintaining the appropriate structure of the catalytic cavity of the enzyme.
Title: Histidine 379 of human laeverin/aminopeptidase Q, a nonconserved residue within the exopeptidase motif, defines its distinctive enzymatic properties.
Observational study of gene-disease association. (HuGE Navigator)
Title: The ERAP2 gene is associated with preeclampsia in Australian and Norwegian populations.

Submit: New GeneRIF Correction See all GeneRIFs (14)

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

EBI GWAS Catalog

Description
Genetic Loci Associated with Circulating Levels of Very Long-Chain Saturated Fatty Acids. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

RH120572 (e-PCR)
- UniSTS:132405

SHGC-151261 (e-PCR)
- UniSTS:173671

RH98415 (e-PCR)
- UniSTS:89479

SHGC-152535 (e-PCR)
- UniSTS:177546

RH66556 (e-PCR)
- UniSTS:7069

RH98999 (e-PCR)
- UniSTS:85715

D5S2055 (e-PCR)
- UniSTS:57342

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables metalloaminopeptidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables peptide binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables zinc ion binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in peptide catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in proteolysis	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: aminopeptidase Q

Names: AP-Q; CHL2 antigen

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_173800.5 → NP_776161.3 aminopeptidase Q

See identical proteins and their annotated locations for NP_776161.3

Status: VALIDATED

Source sequence(s)

AC010282, AC034236, AY560010, BC060869, BC109023, BX096521

Consensus CDS

CCDS4124.1

UniProtKB/Swiss-Prot

A8K6J0, C9JGD2, Q32MR1, Q4G0I9, Q4G0V2, Q6Q4G3, Q86XA3, Q8NBZ2

UniProtKB/TrEMBL

Q0P5U8

Related

ENSP00000350541.4, ENST00000357872.9

Conserved Domains (3) summary

cd09601
Location:105 → 577

M1_APN_2; Peptidase M1 Aminopeptidase N family incudes tricorn interacting factor F3, Endoplasmic reticulum aminopeptidase 1 (ERAP1), Aminopeptidase Q (APQ)

pfam01433
Location:97 → 506

Peptidase_M1; Peptidase family M1

pfam11838
Location:648 → 951

ERAP1_C; ERAP1-like C-terminal domain