This gene encodes a protein that interacts with the low density lipoprotein (LDL) receptor-related protein and facilitates its proper folding and localization by preventing the binding of ligands. Mutations in this gene have been identified in individuals with myopia 23. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013] See more...

Aliases for LRPAP1 Gene

Aliases for LRPAP1 Gene

  • LDL Receptor Related Protein Associated Protein 1 2 3 5
  • Low Density Lipoprotein-Related Protein-Associated Protein 1 (Alpha-2-Macroglobulin Receptor-Associated Protein 1) 2 3
  • Low Density Lipoprotein Receptor-Related Protein Associated Protein 1 2 3
  • Alpha-2-Macroglobulin Receptor-Associated Protein 3 4
  • Alpha-2-MRAP 3 4
  • A2MRAP 3 4
  • HBP44 2 3
  • RAP 3 4
  • Low Density Lipoprotein Receptor-Related Protein-Associated Protein 1 4
  • 39 KDa Receptor-Associated Protein 3
  • LRPAP1 5
  • A2RAP 3
  • MYP23 3
  • MRAP 3

External Ids for LRPAP1 Gene

Previous HGNC Symbols for LRPAP1 Gene

  • A2MRAP
  • RAP

Previous GeneCards Identifiers for LRPAP1 Gene

  • GC04M003517
  • GC04M003420
  • GC04M003545
  • GC04M003551

Summaries for LRPAP1 Gene

Entrez Gene Summary for LRPAP1 Gene

  • This gene encodes a protein that interacts with the low density lipoprotein (LDL) receptor-related protein and facilitates its proper folding and localization by preventing the binding of ligands. Mutations in this gene have been identified in individuals with myopia 23. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]

GeneCards Summary for LRPAP1 Gene

LRPAP1 (LDL Receptor Related Protein Associated Protein 1) is a Protein Coding gene. Diseases associated with LRPAP1 include Myopia 23, Autosomal Recessive and Rare Isolated Myopia. Among its related pathways are Statin Pathway and Lissencephaly gene (LIS1) in neuronal migration and development. Gene Ontology (GO) annotations related to this gene include heparin binding and low-density lipoprotein particle receptor binding.

UniProtKB/Swiss-Prot Summary for LRPAP1 Gene

  • Molecular chaperone for LDL receptor-related proteins that may regulate their ligand binding activity along the secretory pathway.

Gene Wiki entry for LRPAP1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for LRPAP1 Gene

Genomics for LRPAP1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for LRPAP1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around LRPAP1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for LRPAP1

Top Transcription factor binding sites by QIAGEN in the LRPAP1 gene promoter:
  • AML1a
  • En-1
  • ER-alpha
  • FOXO1
  • FOXO1a
  • Sp1
  • STAT3
  • YY1

Genomic Locations for LRPAP1 Gene

Latest Assembly
chr4:3,503,612-3,532,497
(GRCh38/hg38)
Size:
28,886 bases
Orientation:
Minus strand

Previous Assembly
chr4:3,505,339-3,534,149
(GRCh37/hg19 by Entrez Gene)
Size:
28,811 bases
Orientation:
Minus strand

chr4:3,508,103-3,534,286
(GRCh37/hg19 by Ensembl)
Size:
26,184 bases
Orientation:
Minus strand

Genomic View for LRPAP1 Gene

Genes around LRPAP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LRPAP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LRPAP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LRPAP1 Gene

Proteins for LRPAP1 Gene

  • Protein details for LRPAP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P30533-AMRP_HUMAN
    Recommended name:
    Alpha-2-macroglobulin receptor-associated protein
    Protein Accession:
    P30533
    Secondary Accessions:
    • D3DVR9
    • Q2M310
    • Q53HQ3
    • Q53HS6

    Protein attributes for LRPAP1 Gene

    Size:
    357 amino acids
    Molecular mass:
    41466 Da
    Quaternary structure:
    • Interacts with the LRP1/alpha-2-macroglobulin receptor heavy and light chains; the interaction is transient and coincides with a reduction of ligand binding by the receptor (PubMed:1712782, PubMed:1400426, PubMed:7774585, PubMed:16938309, PubMed:16678114, PubMed:32296178). Interacts with LRP2/glycoprotein 330 (PubMed:1400426). Interacts with LRP1B; binding is followed by internalization and degradation (PubMed:11384978). Interacts with LDLR (PubMed:16630895). Interacts with SORL1 (PubMed:8940146, PubMed:11294867, PubMed:12530537, PubMed:15053742, PubMed:15364913, PubMed:26858303). Interacts with LRP1; this interaction is followed by rapid internalization (PubMed:15053742).

    Three dimensional structures from OCA and Proteopedia for LRPAP1 Gene

neXtProt entry for LRPAP1 Gene

Post-translational modifications for LRPAP1 Gene

  • N-glycosylated.
  • Glycosylation at Thr134, Asn268, Thr337, and Ser346
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

Other Protein References for LRPAP1 Gene

No data available for DME Specific Peptides for LRPAP1 Gene

Domains & Families for LRPAP1 Gene

Gene Families for LRPAP1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for LRPAP1 Gene

InterPro:
Blocks:
  • Alpha-2-macroglobulin receptor-associated protein, domain 1

Suggested Antigen Peptide Sequences for LRPAP1 Gene

GenScript: Design optimal peptide antigens:
  • Low density lipoprotein receptor-related protein-associated protein 1 (AMRP_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P30533

UniProtKB/Swiss-Prot:

AMRP_HUMAN :
  • Belongs to the alpha-2-MRAP family.
Family:
  • Belongs to the alpha-2-MRAP family.
genes like me logo Genes that share domains with LRPAP1: view

Function for LRPAP1 Gene

Molecular function for LRPAP1 Gene

UniProtKB/Swiss-Prot Function:
Molecular chaperone for LDL receptor-related proteins that may regulate their ligand binding activity along the secretory pathway.
GENATLAS Biochemistry:
low density lipoprotein receptor related protein,associated protein 1

Phenotypes From GWAS Catalog for LRPAP1 Gene

Gene Ontology (GO) - Molecular Function for LRPAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001540 amyloid-beta binding TAS 22383525
GO:0005102 signaling receptor binding TAS 14645246
GO:0005515 protein binding IPI 8083232
GO:0008201 heparin binding IEA --
GO:0035473 lipase binding IBA 21873635
genes like me logo Genes that share ontologies with LRPAP1: view
genes like me logo Genes that share phenotypes with LRPAP1: view

Human Phenotype Ontology for LRPAP1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for LRPAP1 Gene

MGI Knock Outs for LRPAP1:

miRNA for LRPAP1 Gene

miRTarBase miRNAs that target LRPAP1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LRPAP1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for LRPAP1 Gene

Localization for LRPAP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for LRPAP1 Gene

Rough endoplasmic reticulum lumen. Endoplasmic reticulum-Golgi intermediate compartment lumen. Golgi apparatus, cis-Golgi network. Golgi apparatus lumen. Endosome lumen. Cell surface. Note=May be associated with receptors at the cell surface. {ECO:0000269 PubMed:11384978}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for LRPAP1 gene
Compartment Confidence
plasma membrane 5
extracellular 5
endoplasmic reticulum 5
endosome 5
golgi apparatus 5
cytoskeleton 2
mitochondrion 2
nucleus 2
cytosol 2
lysosome 2
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for LRPAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS 14645246
GO:0005737 cytoplasm IEA --
GO:0005768 endosome IBA,IDA 7774585
GO:0005783 endoplasmic reticulum IEA,IDA --
GO:0005791 rough endoplasmic reticulum IEA --
genes like me logo Genes that share ontologies with LRPAP1: view

Pathways & Interactions for LRPAP1 Gene

genes like me logo Genes that share pathways with LRPAP1: view

Pathways by source for LRPAP1 Gene

Gene Ontology (GO) - Biological Process for LRPAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002091 negative regulation of receptor internalization IGI 23386614
GO:0007165 signal transduction IDA 11294867
GO:0010916 negative regulation of very-low-density lipoprotein particle clearance IBA,IDA 8083232
GO:0032091 negative regulation of protein binding IDA 8083232
GO:0048259 regulation of receptor-mediated endocytosis IDA 7774585
genes like me logo Genes that share ontologies with LRPAP1: view

No data available for SIGNOR curated interactions for LRPAP1 Gene

Drugs & Compounds for LRPAP1 Gene

(10) Drugs for LRPAP1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(3) Additional Compounds for LRPAP1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with LRPAP1: view

Transcripts for LRPAP1 Gene

mRNA/cDNA for LRPAP1 Gene

1 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LRPAP1

Alternative Splicing Database (ASD) splice patterns (SP) for LRPAP1 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4a · 4b · 4c ^ 5 ^ 6a · 6b ^ 7a · 7b · 7c ^ 8 ^ 9 ^ 10 ^ 11
SP1: - - - - -
SP2: - - - - - - - -
SP3: - - -
SP4: - - - - -
SP5: - -
SP6: - -
SP7: - -
SP8:

Relevant External Links for LRPAP1 Gene

GeneLoc Exon Structure for
LRPAP1

Expression for LRPAP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for LRPAP1 Gene

mRNA differential expression in normal tissues according to GTEx for LRPAP1 Gene

This gene is overexpressed in Whole Blood (x4.4).

Protein differential expression in normal tissues from HIPED for LRPAP1 Gene

This gene is overexpressed in Testis (15.8) and Bone marrow stromal cell (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for LRPAP1 Gene



Protein tissue co-expression partners for LRPAP1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for LRPAP1

SOURCE GeneReport for Unigene cluster for LRPAP1 Gene:

Hs.40966

Evidence on tissue expression from TISSUES for LRPAP1 Gene

  • Nervous system(4.9)
  • Liver(4.5)
  • Skin(4.2)
  • Lung(3.8)
  • Pancreas(3.7)
  • Kidney(3.2)
  • Heart(3.2)
  • Intestine(3)
  • Thyroid gland(3)
  • Muscle(2.9)
  • Eye(2.7)
  • Stomach(2.6)
  • Adrenal gland(2.6)
  • Blood(2.4)
  • Spleen(2.4)
  • Bone marrow(2.4)
  • Lymph node(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for LRPAP1 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
Regions:
Head and neck:
  • brain
  • cranial nerve
  • eye
  • head
General:
  • peripheral nervous system
genes like me logo Genes that share expression patterns with LRPAP1: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for LRPAP1 Gene

Orthologs for LRPAP1 Gene

This gene was present in the common ancestor of animals.

Orthologs for LRPAP1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia LRPAP1 29 30
  • 98.41 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia LRPAP1 29 30
  • 82.69 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Lrpap1 29
  • 80.68 (n)
Mouse
(Mus musculus)
Mammalia Lrpap1 29 16 30
  • 80.58 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia LRPAP1 29 30
  • 79.93 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia LRPAP1 30
  • 69 (a)
OneToOne
Chicken
(Gallus gallus)
Aves LRPAP1 29 30
  • 67.77 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia LRPAP1 30
  • 68 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia lrpap1 29
  • 64.12 (n)
Str.1732 29
African clawed frog
(Xenopus laevis)
Amphibia LOC398643 29
Zebrafish
(Danio rerio)
Actinopterygii lrpap1 29 30
  • 62.97 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003521 29
  • 52.85 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG8507 29 30 31
  • 51.5 (n)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.9235 30
  • 36 (a)
OneToOne
Species where no ortholog for LRPAP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for LRPAP1 Gene

ENSEMBL:
Gene Tree for LRPAP1 (if available)
TreeFam:
Gene Tree for LRPAP1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for LRPAP1: view image
Alliance of Genome Resources:
Additional Orthologs for LRPAP1

Paralogs for LRPAP1 Gene

No data available for Paralogs for LRPAP1 Gene

Variants for LRPAP1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for LRPAP1 Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
rs111244551 Likely Benign: not provided 3,518,154(-) C/T
NM_002337.4(LRPAP1):c.631G>A (p.Asp211Asn)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
rs139828333 Benign: not provided 3,532,332(-) G/A
NM_002337.4(LRPAP1):c.81C>T (p.Pro27=)
SYNONYMOUS
rs142669297 Benign: not provided 3,524,929(-) C/T
NM_002337.4(LRPAP1):c.327G>A (p.Ala109=)
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS
rs143257814 Benign: not provided 3,518,965(-) G/A
NM_002337.4(LRPAP1):c.498C>T (p.Gly166=)
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS
rs143714310 Likely Benign: not provided 3,514,774(-) C/T
NM_002337.4(LRPAP1):c.989G>A (p.Arg330Gln)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for LRPAP1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for LRPAP1 Gene

Variant ID Type Subtype PubMed ID
esv1102085 CNV deletion 17803354
esv1183049 CNV deletion 17803354
esv1447823 CNV deletion 17803354
esv2726900 CNV deletion 23290073
esv2726901 CNV deletion 23290073
esv2726902 CNV deletion 23290073
esv2726903 CNV deletion 23290073
esv2726904 CNV deletion 23290073
esv2726905 CNV deletion 23290073
esv2726907 CNV deletion 23290073
esv2726908 CNV deletion 23290073
esv2759219 CNV gain 17122850
nsv10426 CNV gain+loss 18304495
nsv1161029 CNV duplication 26073780
nsv293764 CNV deletion 16902084
nsv428435 CNV gain 18775914
nsv461171 CNV loss 19166990
nsv470004 CNV loss 18288195
nsv508992 CNV insertion 20534489
nsv593459 CNV loss 21841781
nsv829840 CNV loss 17160897
nsv829841 CNV loss 17160897
nsv949766 CNV deletion 24416366
nsv949767 CNV deletion 24416366
nsv998670 CNV gain 25217958

Variation tolerance for LRPAP1 Gene

Residual Variation Intolerance Score: 83.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.66; 65.76% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for LRPAP1 Gene

Human Gene Mutation Database (HGMD)
LRPAP1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
LRPAP1
Leiden Open Variation Database (LOVD)
LRPAP1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LRPAP1 Gene

Disorders for LRPAP1 Gene

MalaCards: The human disease database

(9) MalaCards diseases for LRPAP1 Gene - From: OMI, CVR, GTR, ORP, COP, and GCD

Disorder Aliases PubMed IDs
myopia 23, autosomal recessive
  • myp23
rare isolated myopia
myopia
  • near vision
membranous nephropathy
  • membranous nephropathy, susceptibility to
reticulate acropigmentation of kitamura
  • rak
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

AMRP_HUMAN
  • Myopia 23, autosomal recessive (MYP23) [MIM:615431]: A refractive error of the eye, in which parallel rays from a distant object come to focus in front of the retina, vision being better for near objects than for far. {ECO:0000269 PubMed:23830514}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for LRPAP1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with LRPAP1: view

No data available for Genatlas for LRPAP1 Gene

Publications for LRPAP1 Gene

  1. Analysis of the human LRPAP1 gene coding for the lipoprotein receptor-associated protein: identification of 22 polymorphisms and one mutation. (PMID: 9782079) Van Leuven F … Nelissen B (Genomics 1998) 3 4 22 40
  2. Cloning, characterization, and chromosomal localization to 4p16 of the human gene (LRPAP1) coding for the alpha 2-macroglobulin receptor-associated protein and structural comparison with the murine gene coding for the 44-kDa heparin-binding protein. (PMID: 7789983) Van Leuven F … Van den Berghe H (Genomics 1995) 2 3 4 22
  3. Mutations in LRPAP1 are associated with severe myopia in humans. (PMID: 23830514) Aldahmesh MA … Alkuraya FS (American journal of human genetics 2013) 3 4 72
  4. LRP-associated protein gene (LRPAP1) and susceptibility to degenerative dementia. (PMID: 18721259) Pandey P … Mittal B (Genes, brain, and behavior 2008) 3 22 40
  5. Low-density lipoprotein receptor-related protein-associated protein (LRPAP1) gene IVS5 insertion/deletion polymorphism is not a risk factor for gallstone disease in a Polish population. (PMID: 17913606) Juzyszyn Z … Droździk M (Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver 2008) 3 22 40

Products for LRPAP1 Gene

Sources for LRPAP1 Gene