LPA lipoprotein(a) [Homo sapiens (human)] - Gene

Summary

Official Symbol: LPAprovided by HGNC
Official Full Name: lipoprotein(a)provided by HGNC
Primary source: HGNC:HGNC:6667
See related: Ensembl:ENSG00000198670 MIM:152200; AllianceGenome:HGNC:6667
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: LP; AK38; APOA
Summary: The protein encoded by this gene is a serine proteinase that inhibits the activity of tissue-type plasminogen activator I. The encoded protein constitutes a substantial portion of lipoprotein(a) and is proteolytically cleaved, resulting in fragments that attach to atherosclerotic lesions and promote thrombogenesis. Elevated plasma levels of this protein are linked to atherosclerosis. Depending on the individual, the encoded protein contains 2-43 copies of kringle-type domains. The allele represented here contains 15 copies of the kringle-type repeats and corresponds to that found in the reference genome sequence. [provided by RefSeq, Dec 2009]
Expression: Restricted expression toward liver (RPKM 48.1) See more
Orthologs: all
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Genomic context

Location:: 6q25.3-q26

Exon count:: 39

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (160531482..160664275, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (161783172..162011762, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (160952514..161085307, complement)

Chromosome 6 - NC_000006.12 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 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?

Lipoprotein (a) as a Cardiovascular Risk Factor in Controversial Clinical Scenarios: A Narrative Review.
Title: Lipoprotein (a) as a Cardiovascular Risk Factor in Controversial Clinical Scenarios: A Narrative Review.
Identification of allele-specific KIV-2 repeats and impact on Lp(a) measurements for cardiovascular disease risk.
Title: Identification of allele-specific KIV-2 repeats and impact on Lp(a) measurements for cardiovascular disease risk.
Lipoprotein(a) and Long-Term Plaque Progression, Low-Density Plaque, and Pericoronary Inflammation.
Title: Lipoprotein(a) and Long-Term Plaque Progression, Low-Density Plaque, and Pericoronary Inflammation.
Lipoprotein(a) levels and carotid intima-media thickness in children: A 20-year follow-up study.
Title: Lipoprotein(a) levels and carotid intima-media thickness in children: A 20-year follow-up study.
Confounding Factors Responsible for Elevated Lp(a) Levels in Patients with Coronary Artery Disease.
Title: Confounding Factors Responsible for Elevated Lp(a) Levels in Patients with Coronary Artery Disease.
Association of Lipoprotein(a) with arterial stiffness: A Mendelian randomization study.
Title: Association of Lipoprotein(a) with arterial stiffness: A Mendelian randomization study.
Lipoprotein(a), platelet function and cardiovascular disease.
Title: Lipoprotein(a), platelet function and cardiovascular disease.
Lipoprotein(a) is associated with recurrent cardiovascular events in patients with coronary artery disease and prediabetes or diabetes.
Title: Lipoprotein(a) is associated with recurrent cardiovascular events in patients with coronary artery disease and prediabetes or diabetes.
Association between lipoprotein (a) and risk of heart failure: A systematic review and meta-analysis of Mendelian randomization studies.
Title: Association between lipoprotein (a) and risk of heart failure: A systematic review and meta-analysis of Mendelian randomization studies.
Diacylglycerols and Lysophosphatidic Acid, Enriched on Lipoprotein(a), Contribute to Monocyte Inflammation.
Title: Diacylglycerols and Lysophosphatidic Acid, Enriched on Lipoprotein(a), Contribute to Monocyte Inflammation.

Submit: New GeneRIF Correction See all GeneRIFs (444)

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

Associated conditions

Description	Tests
LIPOPROTEIN(a) QUANTITATIVE TRAIT LOCUS MedGen: C5394134 OMIM: 618807 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
A genome-wide association study identifies protein quantitative trait loci (pQTLs). EBI GWAS Catalog EBI GWAS CatalogPubMed
Biological, clinical and population relevance of 95 loci for blood lipids. EBI GWAS Catalog EBI GWAS CatalogPubMed
Discovery and refinement of loci associated with lipid levels. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic and clinical correlates of early-outgrowth colony-forming units. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic associations with valvular calcification and aortic stenosis. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic determinants of statin-induced low-density lipoprotein cholesterol reduction: the Justification for the Use of Statins in Prevention: an Intervention Trial Evaluating Rosuvastatin (JUPITER) trial. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic variants in PLG, LPA and SIGLEC 14 as well as smoking contribute to plasma plasminogen levels. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic variants, plasma lipoprotein(a) levels, and risk of cardiovascular morbidity and mortality among two prospective cohorts of type 2 diabetes. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study evaluating lipoprotein-associated phospholipase A2 mass and activity at baseline and after rosuvastatin therapy. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of genetic determinants of LDL-c response to atorvastatin therapy: importance of Lp(a). EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of plasma lipoprotein(a) levels identifies multiple genes on chromosome 6q. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide characterization of shared and distinct genetic components that influence blood lipid levels in ethnically diverse human populations. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide haplotype association study identifies the SLC22A3-LPAL2-LPA gene cluster as a risk locus for coronary artery disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel association to the proprotein convertase PCSK7 gene locus revealed by analysing soluble transferrin receptor (sTfR) levels. EBI GWAS Catalog EBI GWAS CatalogPubMed
Pharmacogenetic meta-analysis of genome-wide association studies of LDL cholesterol response to statins. EBI GWAS Catalog EBI GWAS CatalogPubMed
Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants. 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

D6S1579 (e-PCR), detects polymorphism
- UniSTS:61752

SHGC-83306 (e-PCR)
- UniSTS:101181

GDB:595276 (e-PCR)
- UniSTS:158018

D6S1423 (e-PCR)
- UniSTS:50067

STS-X06290 (e-PCR)
- UniSTS:72928

D6S1951 (e-PCR)
- UniSTS:43503

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables apolipoprotein binding	IPI Inferred from Physical Interaction more info	PubMed
enables endopeptidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables endopeptidase inhibitor activity	TAS Traceable Author Statement more info	PubMed
enables fibronectin binding	IPI Inferred from Physical Interaction more info	PubMed
enables heparin binding	NAS Non-traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables serine-type endopeptidase activity	IDA Inferred from Direct Assay more info	PubMed
enables signaling receptor binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in blood circulation	TAS Traceable Author Statement more info	PubMed
involved_in lipid metabolic process	NAS Non-traceable Author Statement more info	PubMed
involved_in lipid transport	IEA Inferred from Electronic Annotation more info
involved_in proteolysis	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in extracellular region	NAS Non-traceable Author Statement more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
part_of plasma lipoprotein particle	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: apolipoprotein(a)

Names: antiangiogenic AK38 protein; apo(a); lipoprotein, Lp(a); lp(a)

NP_005568.2

EC 3.4.21.-

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.

Genomic

NG_016147.1 RefSeqGene

Range

7101..139894

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_005577.4 → NP_005568.2 apolipoprotein(a) precursor

See identical proteins and their annotated locations for NP_005568.2

Status: REVIEWED

Source sequence(s)

AL109933, AL596089

Consensus CDS

CCDS43523.1

UniProtKB/Swiss-Prot

P08519, Q5VTD7, Q9UD88

UniProtKB/TrEMBL

Q1HP67

Related

ENSP00000321334.6, ENST00000316300.10

Conserved Domains (4) summary

smart00020
Location:1820 → 2033

Tryp_SPc; Trypsin-like serine protease

smart00130
Location:1614 → 1695

KR; Kringle domain

cd00190
Location:1820 → 2034

Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...

pfam00051
Location:28 → 105

Kringle; Kringle domain