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Aliases for LRPAP1 Gene

Aliases for LRPAP1 Gene

  • Low Density Lipoprotein Receptor-Related Protein Associated Protein 1 2 3
  • A2MRAP 3 4 6
  • Low Density Lipoprotein-Related Protein-Associated Protein 1 (Alpha-2-Macroglobulin Receptor-Associated Protein 1) 2 3
  • Alpha-2-MRAP 3 4
  • MYP23 3 6
  • 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
  • MRAP 3

External Ids for LRPAP1 Gene

Previous Symbols for LRPAP1 Gene

  • A2MRAP

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 (Low Density Lipoprotein Receptor-Related Protein Associated Protein 1) is a Protein Coding gene. Diseases associated with LRPAP1 include myopia 23, autosomal recessive and myopia. Among its related pathways are Reelin signaling pathway 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

Genomic Location for LRPAP1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for LRPAP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LRPAP1 Gene

Regulatory Elements 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:

No data available for DME Specific Peptides for LRPAP1 Gene

Domains for LRPAP1 Gene

Protein Domains for LRPAP1 Gene

UniProtKB/Swiss-Prot:

AMRP_HUMAN
Family:
  • Belongs to the alpha-2-MRAP family.:
    • P30533
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:0004873 asialoglycoprotein receptor activity TAS 2229028
GO:0005515 protein binding IPI 8083232
GO:0008201 heparin binding IEA --
GO:0035473 lipase binding IEA --
GO:0048019 receptor antagonist activity IDA 8083232
genes like me logo Genes that share ontologies with LRPAP1: view
genes like me logo Genes that share phenotypes with LRPAP1: view

Animal Models for LRPAP1 Gene

MGI Knock Outs for LRPAP1:

miRNA for LRPAP1 Gene

miRTarBase miRNAs that target LRPAP1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting 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
plasma membrane 5
extracellular 4
cytoskeleton 2
cytosol 2
nucleus 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 IDA --
GO:0005886 plasma membrane IDA 16263759
GO:0009986 cell surface IEA --
GO:0016021 integral component of membrane TAS 1712782
genes like me logo Genes that share ontologies with LRPAP1: view

Pathways 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:0006457 protein folding TAS 8654360
GO:0006898 receptor-mediated endocytosis TAS 2229028
GO:0010916 negative regulation of very-low-density lipoprotein particle clearance IDA 8083232
GO:0016192 vesicle-mediated transport TAS 8654360
GO:0032091 negative regulation of protein binding IDA 8083232
genes like me logo Genes that share ontologies with LRPAP1: view

Compounds for LRPAP1 Gene

(13) Novoseek inferred chemical compound relationships for LRPAP1 Gene

Compound -log(P) Hits PubMed IDs
exotoxin-a 58.2 2
mannan 31.6 1
heparin 30.2 12
lovastatin 20.6 1
suramin 20.3 2
genes like me logo Genes that share compounds with LRPAP1: view

Transcripts for LRPAP1 Gene

mRNA/cDNA for LRPAP1 Gene

Unigene Clusters for LRPAP1 Gene

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

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 expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Whole Blood (4.4).

Integrated Proteomics: protein expression 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 expressions with LRPAP1: view

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 36
  • 98.41 (n)
  • 99.16 (a)
LRPAP1 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia LRPAP1 36
  • 79.93 (n)
  • 72.55 (a)
LRPAP1 37
  • 71 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LRPAP1 36
  • 82.69 (n)
  • 80 (a)
LRPAP1 37
  • 77 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Lrpap1 36
  • 80.58 (n)
  • 77.18 (a)
Lrpap1 16
Lrpap1 37
  • 76 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia LRPAP1 37
  • 69 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Lrpap1 36
  • 80.68 (n)
  • 76.88 (a)
chicken
(Gallus gallus)
Aves LRPAP1 36
  • 67.77 (n)
  • 68.28 (a)
LRPAP1 37
  • 67 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia LRPAP1 37
  • 68 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia LOC398643 36
tropical clawed frog
(Silurana tropicalis)
Amphibia lrpap1 36
  • 64.12 (n)
  • 65.75 (a)
Str.1732 36
zebrafish
(Danio rerio)
Actinopterygii lrpap1 36
  • 62.97 (n)
  • 57.85 (a)
lrpap1 37
  • 54 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003521 36
  • 52.85 (n)
  • 37.28 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG8507 36
  • 51.5 (n)
  • 37.5 (a)
CG8507 37
  • 30 (a)
OneToOne
CG8507 38
  • 35 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9235 37
  • 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 MAF
rs3182 -- 3,508,871(-) GCGCT(C/T)GCTAA utr-variant-3-prime, nc-transcript-variant
rs3183 -- 3,508,888(-) ACTGG(C/T)GAGGT utr-variant-3-prime, nc-transcript-variant
rs3184 -- 3,508,787(-) CAGGC(A/G)GAAGA utr-variant-3-prime, nc-transcript-variant
rs3468 -- 3,503,721(+) CTCAC(A/G)CGCTT utr-variant-3-prime, nc-transcript-variant
rs6789 -- 3,512,968(-) AGGCA(C/T)TGGGG utr-variant-3-prime, nc-transcript-variant

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

Relevant External Links for LRPAP1 Gene

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

Disorders for LRPAP1 Gene

(1) OMIM Diseases for LRPAP1 Gene (104225)

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.

(7) Novoseek inferred disease relationships for LRPAP1 Gene

Disease -log(P) Hits PubMed IDs
nephropathy membranous 66.8 1
glomerulonephritis 56.4 8
alzheimers disease 25.6 2
carcinoma embryonal 23 2
atherosclerosis 0 1

Relevant External Links for LRPAP1

Genetic Association Database (GAD)
LRPAP1
Human Genome Epidemiology (HuGE) Navigator
LRPAP1
genes like me logo Genes that share disorders with LRPAP1: view

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 49
  2. Variation in the lipoprotein receptor-related protein, alpha2-macroglobulin and lipoprotein receptor-associated protein genes in relation to plasma lipid levels and risk of early myocardial infarction. (PMID: 12394648) GonzA!lez P. … Coto E. (Coron. Artery Dis. 2002) 3 23 49
  3. The 39-kDa receptor-associated protein interacts with two members of the low density lipoprotein receptor family, alpha 2-macroglobulin receptor and glycoprotein 330. (PMID: 1400426) Kounnas M.Z. … Strickland D.K. (J. Biol. Chem. 1992) 3 4 23
  4. 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) 3 4 23
  5. 39 kDa receptor-associated protein is an ER resident protein and molecular chaperone for LDL receptor-related protein. (PMID: 7774585) Bu G. … Schwartz A.L. (EMBO J. 1995) 3 4 23

Products for LRPAP1 Gene

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat
  • Pathway & Disease-focused RT² Profiler PCR Arrays
    • Lipoprotein Signaling & Cholesterol Metabolism in human,mouse,rat
  • QIAGEN qRT-PCR Assays for microRNAs that regulate LRPAP1
    • QuantiTect SYBR Green Assays in human,mouse,rat
    • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
    • QuantiFast Probe-based Assays in human,mouse,rat
    • Predesigned siRNA for gene silencing in human,mouse,rat for LRPAP1
    • Block miRNA regulation of LRPAP1 using miScript Target Protectors

    Sources for LRPAP1 Gene

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