Free for academic non-profit institutions. Other users need a Commercial license

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
  • 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

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 Lissencephaly gene (LIS1) in neuronal migration and development and Signaling events mediated by the Hedgehog family. GO annotations related to this gene include heparin binding and low-density lipoprotein particle receptor binding.

UniProtKB/Swiss-Prot for LRPAP1 Gene

  • Interacts with LRP1/alpha-2-macroglobulin receptor and glycoprotein 330.

Gene Wiki entry for LRPAP1 Gene

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

Genomics for LRPAP1 Gene

Regulatory Elements for LRPAP1 Gene

Promoters for LRPAP1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around LRPAP1 on UCSC Golden Path with GeneCards custom track

Genomic Location for LRPAP1 Gene

Chromosome:
4
Start:
3,503,597 bp from pter
End:
3,532,559 bp from pter
Size:
28,963 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:
    • Present on cell surface forming a complex with the alpha-2-macroglobulin receptor heavy and light chains. Binds LRP1B; binding is followed by internalization and degradation.

    Three dimensional structures from OCA and Proteopedia for LRPAP1 Gene

neXtProt entry for LRPAP1 Gene

Proteomics data for LRPAP1 Gene at MOPED

Post-translational modifications for LRPAP1 Gene

Other Protein References for LRPAP1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cloud-Clone Corp. Antibodies for LRPAP1

Protein Products

  • Enzo Life Sciences proteins for LRPAP1

No data available for DME Specific Peptides for LRPAP1 Gene

Domains & Families for LRPAP1 Gene

Protein Domains for LRPAP1 Gene

Suggested Antigen Peptide Sequences for LRPAP1 Gene

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

No data available for Gene Families for LRPAP1 Gene

Function for LRPAP1 Gene

Molecular function for LRPAP1 Gene

GENATLAS Biochemistry:
low density lipoprotein receptor related protein,associated protein 1
UniProtKB/Swiss-Prot Function:
Interacts with LRP1/alpha-2-macroglobulin receptor and glycoprotein 330.

Gene Ontology (GO) - Molecular Function for LRPAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0051082 unfolded protein binding TAS 8654360
GO:0070326 very-low-density lipoprotein particle receptor binding IPI 8083232
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

In Situ Assay Products

Flow Cytometry Products

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

Endoplasmic reticulum. Cytoplasm. Cell surface. Note=Intracellular and associated with cell surface receptors. Found in the endoplasmic reticulum.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for LRPAP1 Gene COMPARTMENTS Subcellular localization image for LRPAP1 gene
Compartment Confidence
endoplasmic reticulum 5
extracellular 5
plasma membrane 5
cytoskeleton 2
cytosol 1
lysosome 1
nucleus 1
vacuole 1

Gene Ontology (GO) - Cellular Components for LRPAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IDA 8083232
GO:0005783 endoplasmic reticulum IEA,IDA --
GO:0016021 integral component of membrane TAS 1712782
GO:0048237 rough endoplasmic reticulum lumen 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

Gene Ontology (GO) - Biological Process for LRPAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0010916 negative regulation of very-low-density lipoprotein particle clearance IDA 8083232
GO:1900222 negative regulation of beta-amyloid clearance IGI 19098903
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

(9) Drugs for LRPAP1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(4) 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

Unigene Clusters for LRPAP1 Gene

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

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

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
ECgene alternative splicing isoforms for
LRPAP1

Expression for LRPAP1 Gene

mRNA expression in normal human tissues 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, PaxDb, MOPED, and MaxQB for LRPAP1 Gene



SOURCE GeneReport for Unigene cluster for LRPAP1 Gene Hs.40966

genes like me logo Genes that share expression patterns with LRPAP1: view

Protein tissue co-expression partners for LRPAP1 Gene

Primer Products

In Situ Assay Products

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
cow
(Bos Taurus)
Mammalia LRPAP1 35
  • 79.93 (n)
  • 72.55 (a)
LRPAP1 36
  • 71 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LRPAP1 35
  • 82.69 (n)
  • 80 (a)
LRPAP1 36
  • 77 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Lrpap1 35
  • 80.58 (n)
  • 77.18 (a)
Lrpap1 16
Lrpap1 36
  • 76 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia LRPAP1 35
  • 98.41 (n)
  • 99.16 (a)
LRPAP1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Lrpap1 35
  • 80.68 (n)
  • 76.88 (a)
oppossum
(Monodelphis domestica)
Mammalia LRPAP1 36
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves LRPAP1 35
  • 67.77 (n)
  • 68.28 (a)
LRPAP1 36
  • 67 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia LRPAP1 36
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia lrpap1 35
  • 64.12 (n)
  • 65.75 (a)
Str.1732 35
African clawed frog
(Xenopus laevis)
Amphibia LOC398643 35
zebrafish
(Danio rerio)
Actinopterygii lrpap1 35
  • 62.97 (n)
  • 57.85 (a)
lrpap1 36
  • 54 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG8507 37
  • 35 (a)
CG8507 35
  • 51.5 (n)
  • 37.5 (a)
CG8507 36
  • 30 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003521 35
  • 52.85 (n)
  • 37.28 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9235 36
  • 36 (a)
OneToOne
Species with no ortholog for LRPAP1:
  • 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

ENSEMBL:
Gene Tree for LRPAP1 (if available)
TreeFam:
Gene Tree for LRPAP1 (if available)

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 Sequence Context AA Info Type
rs1800493 - 3,514,832(-) AGAGC(A/G)TGGGC nc-transcript-variant, reference, missense
rs2228158 - 3,524,915(-) ACGCA(A/G/T)CCTCA nc-transcript-variant, reference, missense
rs3182 -- 3,508,871(-) GCGCT(C/T)GCTAA nc-transcript-variant, utr-variant-3-prime
rs3183 -- 3,508,888(-) ACTGG(C/T)GAGGT nc-transcript-variant, utr-variant-3-prime
rs3184 -- 3,508,787(-) CAGGC(A/G)GAAGA nc-transcript-variant, utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
nsv878462 CNV Loss 21882294
nsv428435 CNV Gain 18775914
essv879 CNV CNV 17122850
dgv1566e1 CNV Complex 17122850
nsv878464 CNV Loss 21882294
dgv5429n71 CNV Loss 21882294
nsv878471 CNV Loss 21882294
nsv470004 CNV Loss 18288195
nsv829840 CNV Loss 17160897
dgv5433n71 CNV Loss 21882294
nsv508992 CNV Insertion 20534489
nsv878483 CNV Loss 21882294
essv14004 CNV CNV 17122850
nsv878485 CNV Loss 21882294
nsv10426 CNV Gain+Loss 18304495
nsv878488 CNV Loss 21882294
dgv5436n71 CNV Loss 21882294
nsv461171 CNV Loss 19166990
nsv878491 CNV Loss 21882294
nsv878492 CNV Loss 21882294
nsv878495 CNV Gain 21882294
nsv829841 CNV Loss 17160897
esv2726900 CNV Deletion 23290073
esv2726901 CNV Deletion 23290073
esv2726902 CNV Deletion 23290073
esv1102085 CNV Deletion 17803354
esv2726903 CNV Deletion 23290073
esv2726904 CNV Deletion 23290073
esv1447823 CNV Deletion 17803354
nsv293764 CNV Loss 16902084
esv2726905 CNV Deletion 23290073
esv2726907 CNV Deletion 23290073
esv1183049 CNV Deletion 17803354
esv2726908 CNV Deletion 23290073

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)

Relevant External Links for LRPAP1 Gene

HapMap Linkage Disequilibrium report
LRPAP1
Human Gene Mutation Database (HGMD)
LRPAP1

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: OMIM, ClinVar, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
myopia 23, autosomal recessive
  • myp23
rare isolated myopia
myopia
  • near vision
babesiosis
  • babesiasis
refractive error
  • refractive errors
- 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 mutations affecting the gene represented in this entry.
  • Note=In complex with the alpha-2-MR or gp330, it may have some role in the pathogenesis of membrane glomerular nephritis.

Relevant External Links for LRPAP1

Genetic Association Database (GAD)
LRPAP1
Human Genome Epidemiology (HuGE) Navigator
LRPAP1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
LRPAP1
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 23 48 67
  2. 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. … DroA_dzik M. (Dig Liver Dis 2008) 3 23
  3. LRP-associated protein gene (LRPAP1) and susceptibility to degenerative dementia. (PMID: 18721259) Pandey P. … Mittal B. (Genes Brain Behav. 2008) 3 23
  4. Interaction of lipoprotein lipase and receptor-associated protein. (PMID: 16517593) Page S. … Bensadoun A. (J. Biol. Chem. 2006) 3 23
  5. Alpha2-macroglobulin, lipoprotein receptor-related protein and lipoprotein receptor-associated protein and the genetic risk for developing Alzheimer's disease. (PMID: 16650578) Depboylu C. … Dodel R.C. (Neurosci. Lett. 2006) 3 23

Products for LRPAP1 Gene

Sources for LRPAP1 Gene

Back to Top

Content