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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-MRAP 3 4
  • A2MRAP 3 4
  • RAP 3 4
  • Low Density Lipoprotein Receptor-Related Protein-Associated Protein 1 4
  • Alpha-2-Macroglobulin Receptor-Associated Protein 3
  • 39 KDa Receptor-Associated Protein 3
  • A2RAP 3
  • HBP44 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 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

Additional gene information for LRPAP1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LRPAP1 Gene

Genomics for LRPAP1 Gene

GeneHancer (GH) Regulatory Elements for LRPAP1 Gene

Promoters and enhancers for LRPAP1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04J003531 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 666.6 +0.3 288 1.7 ARID4B SIN3A DMAP1 ZNF48 YY1 ETS1 POLR2B GLIS2 ZNF143 SP3 LRPAP1 FAM86EP ENSG00000261643 PIR35299
GH04J003480 Promoter/Enhancer 2 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 13.4 +48.6 48595 7.7 HDGF CLOCK ARID4B NEUROD1 SIN3A ZBTB7B GLIS2 ELK1 ZNF143 REST DOK7 LRPAP1 MFSD10 ZBTB49 ENSG00000261643 LINC00955 FAM193A NOP14 HTT-AS MSANTD1
GH04J003491 Enhancer 0.8 ENCODE dbSUPER 17.2 +37.9 37863 6.8 KLF17 ZIC2 ZFHX2 GLIS2 POLR2A GLIS1 ZNF24 ZNF600 KLF8 EGR2 LRPAP1 ENSG00000261643 ZBTB49 FAM193A MFSD10 DOK7 NOP14-AS1 GC04P003490
GH04J003470 Enhancer 0.7 ENCODE dbSUPER 11.2 +61.8 61780 0.1 NFIC NFIB ZNF10 SCRT2 MNT ZBTB40 ZBTB20 LRPAP1 GC04P003463 DOK7 LOC105374355
GH04J003500 Enhancer 0.4 dbSUPER 17.3 +30.4 30361 3.8 POLR2A ZNF133 LRPAP1 ENSG00000261643 GC04P003490 DOK7
- 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 UCSC Golden Path with GeneCards custom track

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

Genomic Locations for LRPAP1 Gene

Genomic Locations for LRPAP1 Gene
28,963 bases
Minus strand
28,963 bases
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:
    Recommended name:
    Alpha-2-macroglobulin receptor-associated protein
    Protein Accession:
    Secondary Accessions:
    • D3DVR9
    • Q2M310
    • Q53HQ3
    • Q53HS6

    Protein attributes for LRPAP1 Gene

    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). Interacts with LRP2/glycoprotein 330 (PubMed:1400426). Interacts with LRP1B; binding is followed by internalization and degradation (PubMed:11384978). Interacts with LDLR (PubMed:16630895).

    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 isoforms=346, isoforms=337, posLast=268268, and posLast=134134
  • Modification sites at PhosphoSitePlus

Other Protein References for LRPAP1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for LRPAP1
  • Boster Bio Antibodies for LRPAP1
  • Santa Cruz Biotechnology (SCBT) Antibodies for LRPAP1

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 secreted proteins

Suggested Antigen Peptide Sequences for LRPAP1 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the alpha-2-MRAP 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 IEA --
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:

Animal Model Products

CRISPR Products

miRNA for LRPAP1 Gene

miRTarBase miRNAs that target LRPAP1

Inhibitory RNA Products

  • 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

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
golgi apparatus 5
endosome 5
cytoskeleton 2
nucleus 1
cytosol 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (4)
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,IEA 14645246
GO:0005737 cytoplasm IEA --
GO:0005768 endosome IDA,IEA 7774585
GO:0005783 endoplasmic reticulum 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:0010916 negative regulation of very-low-density lipoprotein particle clearance IDA 8083232
GO:0032091 negative regulation of protein binding IDA 8083232
GO:0045056 transcytosis IMP 26005850
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 :
(17) Additional mRNA sequences :
(696) Selected AceView cDNA sequences:
(4) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for LRPAP1 Gene

Low density lipoprotein receptor-related protein associated protein 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • 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: - -

Relevant External Links for LRPAP1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for LRPAP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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

NURSA nuclear receptor signaling pathways regulating expression of LRPAP1 Gene:


SOURCE GeneReport for Unigene cluster for LRPAP1 Gene:


Evidence on tissue expression from TISSUES for LRPAP1 Gene

  • Nervous system(4.9)
  • Liver(4.4)
  • Skin(3.8)
  • Pancreas(3.5)
  • Lung(3.4)
  • Kidney(3.1)
  • Heart(2.9)
  • Intestine(2.7)
  • Thyroid gland(2.7)
  • Muscle(2.6)
  • Eye(2.3)
  • Blood(2.2)
  • Adrenal gland(2.1)
  • Stomach(2)

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

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

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
(Pan troglodytes)
Mammalia LRPAP1 34 33
  • 98.41 (n)
(Canis familiaris)
Mammalia LRPAP1 34 33
  • 82.69 (n)
(Rattus norvegicus)
Mammalia Lrpap1 33
  • 80.68 (n)
(Mus musculus)
Mammalia Lrpap1 16 34 33
  • 80.58 (n)
(Bos Taurus)
Mammalia LRPAP1 34 33
  • 79.93 (n)
(Monodelphis domestica)
Mammalia LRPAP1 34
  • 69 (a)
(Gallus gallus)
Aves LRPAP1 34 33
  • 67.77 (n)
(Anolis carolinensis)
Reptilia LRPAP1 34
  • 68 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia lrpap1 33
  • 64.12 (n)
Str.1732 33
African clawed frog
(Xenopus laevis)
Amphibia LOC398643 33
(Danio rerio)
Actinopterygii lrpap1 34 33 33
  • 62.97 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003521 33
  • 52.85 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG8507 34 35 33
  • 51.5 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9235 34
  • 36 (a)
Species where no ortholog for LRPAP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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

Gene Tree for LRPAP1 (if available)
Gene Tree for LRPAP1 (if available)
Evolutionary constrained regions (ECRs) for LRPAP1: view image

Paralogs for LRPAP1 Gene

No data available for Paralogs for LRPAP1 Gene

Variants for LRPAP1 Gene

Sequence variations from dbSNP and Humsavar for LRPAP1 Gene

SNP ID Clin Chr 04 pos Variation AA Info Type
rs34897511 uncertain-significance, Malignant tumor of prostate 3,524,909(-) T/C coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs398122836 pathogenic, Myopia 23, autosomal recessive 3,514,899(-) GA/ coding_sequence_variant, frameshift, non_coding_transcript_variant
rs786205127 pathogenic, Myopia 23, autosomal recessive 3,518,180(-) TT/T coding_sequence_variant, frameshift, non_coding_transcript_variant
rs786205216 pathogenic, Myopia 23, autosomal recessive 3,532,214(-) GGG/GG coding_sequence_variant, frameshift, genic_upstream_transcript_variant, upstream_transcript_variant
rs1000059294 -- 3,523,582(-) C/T intron_variant

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)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

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

Disorders for LRPAP1 Gene

MalaCards: The human disease database

(8) MalaCards diseases for LRPAP1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

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


  • 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 mutations affecting the gene represented in this entry.

Additional Disease Information for LRPAP1

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 44 58
  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 58
  3. 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 44 58
  4. LRP-associated protein gene (LRPAP1) and susceptibility to degenerative dementia. (PMID: 18721259) Pandey P … Mittal B (Genes, brain, and behavior 2008) 3 22 44 58
  5. RAP uses a histidine switch to regulate its interaction with LRP in the ER and Golgi. (PMID: 16678114) Lee D … Wang YX (Molecular cell 2006) 3 4 22 58

Products for LRPAP1 Gene

Sources for LRPAP1 Gene

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