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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 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

  • 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

Regulatory Elements for LRPAP1 Gene

Enhancers for LRPAP1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH04H003480 1.7 FANTOM5 Ensembl ENCODE dbSUPER 13.4 +48.6 48596 7 HDGF RB1 ARID4B SIN3A KLF17 ZBTB7B RAD21 GLIS2 ELK1 EGR1 LRPAP1 MFSD10 ZBTB49 ENSG00000261643 LINC00955 FAM193A NOP14 DOK7 HTT-AS MSANTD1
GH04H003531 1 ENCODE 16.6 +0.2 209 1 ARID4B SIN3A DMAP1 YY1 ETS1 GLIS2 ZNF143 SP3 SP5 YY2 LRPAP1 FAM86EP ENSG00000261643 PIR35299
GH04H003491 0.9 ENCODE dbSUPER 17.2 +37.9 37863 6 KLF17 ZIC2 ZFHX2 GLIS2 GLIS1 ZNF24 ZNF600 KLF8 EGR2 SNRNP70 LRPAP1 ENSG00000261643 ZBTB49 FAM193A MFSD10 DOK7 NOP14-AS1 GC04P003490
GH04H003470 0.8 ENCODE dbSUPER 11.2 +61.8 61781 0 NFIC NFIB SCRT2 ZNF10 ZBTB40 ZBTB20 LRPAP1 GC04P003463 LOC105374355
GH04H003490 0.7 FANTOM5 dbSUPER 10.1 +41.9 41862 0 ZNF24 LRPAP1 ENSG00000261643 MFSD10 DOK7 GC04P003490
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around LRPAP1 on UCSC Golden Path with GeneCards custom track

Promoters for LRPAP1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000165119 359 1601 ARID4B SIN3A DMAP1 YY1 ETS1 GLIS2 ZNF143 SP3 SP5 YY2

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:
    • 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

Other Protein References for LRPAP1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cloud-Clone Corp. Antibodies for LRPAP1
  • Santa Cruz Biotechnology (SCBT) Antibodies for LRPAP1

Protein Products

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

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

Function for LRPAP1 Gene

Molecular function for LRPAP1 Gene

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

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 beta-amyloid binding TAS 22383525
GO:0005102 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

Clone Products

  • Applied Biological Materials Clones for LRPAP1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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
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 14645246
GO:0005737 cytoplasm IEA --
GO:0005768 endosome IDA,IEA 7774585
GO:0005783 endoplasmic reticulum IDA,IEA --
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

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

Unigene Clusters for LRPAP1 Gene

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

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for LRPAP1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 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, PaxDb, MaxQB, and MOPED for LRPAP1 Gene



Protein tissue co-expression partners for LRPAP1 Gene

NURSA nuclear receptor signaling pathways regulating expression of LRPAP1 Gene:

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(4.4)
  • Skin(3.8)
  • Pancreas(3.5)
  • Lung(3.4)
  • Kidney(3.1)
  • Heart(2.9)
  • Thyroid gland(2.7)
  • Intestine(2.6)
  • Muscle(2.5)
  • 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
Systems:
  • nervous
  • skeletal muscle
Organs:
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

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 33 34
  • 98.41 (n)
dog
(Canis familiaris)
Mammalia LRPAP1 33 34
  • 82.69 (n)
rat
(Rattus norvegicus)
Mammalia Lrpap1 33
  • 80.68 (n)
mouse
(Mus musculus)
Mammalia Lrpap1 33 16 34
  • 80.58 (n)
cow
(Bos Taurus)
Mammalia LRPAP1 33 34
  • 79.93 (n)
oppossum
(Monodelphis domestica)
Mammalia LRPAP1 34
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves LRPAP1 33 34
  • 67.77 (n)
lizard
(Anolis carolinensis)
Reptilia LRPAP1 34
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia lrpap1 33
  • 64.12 (n)
Str.1732 33
African clawed frog
(Xenopus laevis)
Amphibia LOC398643 33
zebrafish
(Danio rerio)
Actinopterygii lrpap1 33 34
  • 62.97 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003521 33
  • 52.85 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG8507 35 33 34
  • 51.5 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9235 34
  • 36 (a)
OneToOne
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

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
rs398122836 Pathogenic 3,514,899(-) CAAAA(-/TC)GAGAA nc-transcript-variant, reference, frameshift-variant
rs786205127 Pathogenic 3,518,180(-) CGAGA(-/A)CGTCA nc-transcript-variant, reference, frameshift-variant
rs786205216 Pathogenic 3,532,214(-) AGGCC(-/C)AGCGA upstream-variant-2KB, reference, frameshift-variant
rs34897511 Uncertain significance 3,524,909(-) CCTCA(A/G)TGGTA nc-transcript-variant, reference, missense
rs1000059294 -- 3,523,582(+) TGCTG(C/T)ACTAC 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)

Relevant External Links for LRPAP1 Gene

Human Gene Mutation Database (HGMD)
LRPAP1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
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: HGMD, OMIM, ClinVar, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
myopia 23, autosomal recessive
  • myp23
rare isolated myopia
myopia
  • near vision
membranous nephropathy
  • membranous glomerulonephritis
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.

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 22 45 60
  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 60
  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 45 60
  4. LRP-associated protein gene (LRPAP1) and susceptibility to degenerative dementia. (PMID: 18721259) Pandey P … Mittal B (Genes, brain, and behavior 2008) 3 22 45 60
  5. Association of low density lipoprotein receptor related protein-associated protein (LRPAP1) gene insertion/deletion polymorphism with gallstone disease. (PMID: 16704534) Dixit M … Mittal B (Journal of gastroenterology and hepatology 2006) 3 22 45 60

Products for LRPAP1 Gene

Sources for LRPAP1 Gene

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