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
External Ids for LRPAP1 Gene
- HGNC: 6701
- Entrez Gene: 4043
- Ensembl: ENSG00000163956
- OMIM: 104225
- UniProtKB: P30533
Previous HGNC Symbols for LRPAP1 Gene
- A2MRAP
- RAP
Previous GeneCards Identifiers for LRPAP1 Gene
- GC04M003517
- GC04M003420
- GC04M003545
- GC04M003551
Summaries 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.
Additional gene information for LRPAP1 Gene
- Monarch Initiative
- Search for LRPAP1 at DataMed
- Search for LRPAP1 at HumanCyc
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
- 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
Regulatory Element Products
Genomic Locations for LRPAP1 Gene
Genomic Locations for LRPAP1 Gene
- chr4:3,503,597-3,532,559
- (GRCh38/hg38)
- Size:
- 28,963 bases
- Orientation:
- Minus strand
- chr4:3,505,324-3,534,286
- (GRCh37/hg19)
- 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:
-
- 4p16.3 by Entrez Gene
- 4p16.3 by HGNC
- 4p16.3 by Ensembl
LRPAP1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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).
Protein Expression 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
- R&D Systems Antibodies for LRPAP1 (LRPAP)
-
Custom Antibody ServicesOriGene Antibodies for LRPAP1
- Novus Biologicals Antibodies for LRPAP1
-
Abcam antibodies for LRPAP1
- Invitrogen Antibodies for LRPAP1 (AFLGC-LRPAP1)
- GeneTex LRPAP1 Antibody for LRPAP1
-
Boster Bio Antibodies for LRPAP1
-
Santa Cruz Biotechnology (SCBT) Antibodies for LRPAP1
- Sino Biological Antibodies for LRPAP1
Protein Products
- R&D Systems Proteins and Enzymes for LRPAP1 (LRPAP)
-
OriGene Purified Proteins for LRPAP1
- Search Origene for MassSpec and Protein Over-expression Lysates for LRPAP1
- Origene Custom Protein Services for LRPAP1
- Sino Biological Recombinant Proteins for LRPAP1
- Sino Biological Cell Lysates for LRPAP1
- ProSpec Recombinant Proteins for LRPAP1
- Search GeneTex for Proteins for LRPAP1
-
Abcam proteins for LRPAP1
Assay 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
- Blocks:
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for LRPAP1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
P30533- Family:
-
- Belongs to the alpha-2-MRAP family.
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
| 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 | -- |
Phenotypes for LRPAP1 Gene
- MGI mutant phenotypes for LRPAP1:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for LRPAP1:
-
- Decreased viability
- no effect
- Decreased Sindbis virus (SIN) capsid and autophagosome LC3 protein colocalization
- Decreased mitophagy mCherry-Parkin protein expression after carbonyl cyanide m-chlorphenylhydrazone (CCCP) stimulation
- Increased vaccinia virus (VACV) infection
- Mildly decreased CFP-tsO45G cell surface transport
- Increased transferrin (TF) endocytosis
Animal Models for LRPAP1 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for LRPAP1
-
CRISPR Products
-
OriGene CRISPR knockouts for LRPAP1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for LRPAP1
- genomics-online: gRNA clones - Search results for available LRPAP1 gene related products
- Applied Biological Materials CRISPR for LRPAP1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for LRPAP1
- GenScript: Design CRISPR guide RNA sequences for LRPAP1
miRNA for LRPAP1 Gene
- miRTarBase miRNAs that target LRPAP1
-
- hsa-mir-26b-5p (MIRT029205)
- hsa-mir-615-3p (MIRT040189)
- hsa-mir-6790-5p (MIRT526350)
- hsa-mir-4658 (MIRT526351)
- hsa-mir-197-3p (MIRT526352)
- hsa-mir-3659 (MIRT526353)
- hsa-mir-574-5p (MIRT526354)
- hsa-mir-138-2-3p (MIRT526355)
- hsa-mir-3691-3p (MIRT526356)
- hsa-mir-3174 (MIRT526357)
- hsa-mir-140-3p (MIRT526358)
- hsa-mir-6501-3p (MIRT562957)
- hsa-mir-95-5p (MIRT562958)
- hsa-mir-5590-3p (MIRT562959)
- hsa-mir-142-5p (MIRT562960)
- hsa-mir-519c-3p (MIRT562961)
- hsa-mir-519b-3p (MIRT562962)
- hsa-mir-519a-3p (MIRT562963)
- hsa-mir-4796-3p (MIRT562964)
- hsa-mir-93-5p (MIRT562965)
- hsa-mir-526b-3p (MIRT562966)
- hsa-mir-519d-3p (MIRT562967)
- hsa-mir-20b-5p (MIRT562968)
- hsa-mir-20a-5p (MIRT562969)
- hsa-mir-17-5p (MIRT562970)
- hsa-mir-106b-5p (MIRT562971)
- hsa-mir-106a-5p (MIRT562972)
- hsa-mir-548ah-5p (MIRT562973)
- hsa-mir-4668-3p (MIRT562974)
- hsa-mir-3609 (MIRT562975)
- hsa-mir-7977 (MIRT631102)
- hsa-mir-6721-5p (MIRT631103)
- hsa-mir-383-3p (MIRT631104)
- hsa-mir-6848-3p (MIRT669914)
- hsa-mir-6843-3p (MIRT669915)
- hsa-mir-3187-3p (MIRT669916)
- hsa-mir-4435 (MIRT669917)
- hsa-mir-588 (MIRT669918)
- hsa-mir-4701-5p (MIRT669919)
- hsa-mir-548s (MIRT669920)
- hsa-mir-378a-5p (MIRT669921)
- hsa-mir-6131 (MIRT669922)
- hsa-mir-4755-3p (MIRT669923)
- hsa-mir-4454 (MIRT669924)
- hsa-mir-6821-3p (MIRT669925)
- hsa-mir-6790-3p (MIRT669926)
- hsa-mir-3663-5p (MIRT669927)
- hsa-mir-3653-5p (MIRT669928)
- hsa-mir-372-5p (MIRT669929)
- hsa-mir-371a-5p (MIRT669930)
- hsa-mir-4716-5p (MIRT669931)
- hsa-mir-6767-3p (MIRT669932)
- hsa-mir-4781-3p (MIRT669933)
- hsa-mir-767-5p (MIRT708689)
- hsa-mir-342-3p (MIRT708690)
- hsa-mir-1228-3p (MIRT708691)
- hsa-mir-7153-3p (MIRT708692)
- hsa-mir-649 (MIRT708693)
- hsa-mir-1184 (MIRT761199)
- hsa-mir-3613-3p (MIRT765992)
- hsa-mir-371b-5p (MIRT767209)
- hsa-mir-373-5p (MIRT767300)
- hsa-mir-4293 (MIRT768430)
- hsa-mir-4325 (MIRT768636)
- hsa-mir-4418 (MIRT768733)
- hsa-mir-4461 (MIRT769399)
- hsa-mir-509-3-5p (MIRT773261)
- hsa-mir-509-5p (MIRT773299)
- hsa-mir-5186 (MIRT773500)
- hsa-mir-616-5p (MIRT776011)
- hsa-mir-7156-3p (MIRT781551)
- hsa-mir-7703 (MIRT782022)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for LRPAP1
- Browse OriGene Inhibitory RNA Products For LRPAP1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LRPAP1
- genomics-online: shRNA clones - Search results for available LRPAP1 gene related products
Clone Products
- Sino Biological Human cDNA Clone for LRPAP1
- Addgene plasmids for LRPAP1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for LRPAP1
- genomics-online: cdna clones - Search results for available LRPAP1 gene related products
- orf clones - Search results for available LRPAP1 gene related products
- Applied Biological Materials Clones for LRPAP1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines 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}.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| extracellular | 5 |
| endoplasmic reticulum | 5 |
| golgi apparatus | 5 |
| endosome | 5 |
| cytoskeleton | 2 |
| nucleus | 1 |
| cytosol | 1 |
| lysosome | 1 |
- Endoplasmic reticulum (4)
| 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 | -- |
Pathways & Interactions for LRPAP1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Statin Pathway | ||
| 2 | Lissencephaly gene (LIS1) in neuronal migration and development | ||
| 3 | Reelin signaling pathway | ||
| 4 | Signaling events mediated by the Hedgehog family | ||
Pathways by source for LRPAP1 Gene
3 BioSystems pathways for LRPAP1 Gene
1 KEGG pathway for LRPAP1 Gene
Interacting Proteins for LRPAP1 Gene
Selected Interacting proteins:
ENSP00000421922
P30533-AMRP_HUMAN
for LRPAP1 Gene via
STRING
UniProtKB
IID
GPS-Prot Interaction Network for LRPAP1
| 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 |
No data available for SIGNOR curated interactions for LRPAP1 Gene
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 :
-
- ENST00000500728 7819 bps (uc003ghh.5)
- ENST00000296325 1078 bps (uc032tax.2)
- ENST00000515119 1167 bps (uc062uvg.1)
- ENST00000509198 1170 bps (uc062uvh.1)
Unigene Clusters for LRPAP1 Gene
- Low density lipoprotein receptor-related protein associated protein 1:
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for LRPAP1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for LRPAP1
- genomics-online: gRNA clones - Search results for available LRPAP1 gene related products
- Applied Biological Materials CRISPR for LRPAP1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for LRPAP1
- GenScript: Design CRISPR guide RNA sequences for LRPAP1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for LRPAP1
- Browse OriGene Inhibitory RNA Products For LRPAP1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LRPAP1
- genomics-online: shRNA clones - Search results for available LRPAP1 gene related products
Clone Products
- Sino Biological Human cDNA Clone for LRPAP1
- Addgene plasmids for LRPAP1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for LRPAP1
- genomics-online: cdna clones - Search results for available LRPAP1 gene related products
- orf clones - Search results for available LRPAP1 gene related products
- Applied Biological Materials Clones for LRPAP1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| 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: |
Expression for LRPAP1 Gene
mRNA differential expression in normal tissues according to GTEx for LRPAP1 Gene
This gene is overexpressed in Whole Blood (x4.4).
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
NURSA nuclear receptor signaling pathways regulating expression of LRPAP1 Gene:
LRPAP1SOURCE GeneReport for Unigene cluster for LRPAP1 Gene:
Hs.40966Evidence 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
Systems:
- nervous
- skeletal muscle
Regions:
Head and neck:
- brain
- cranial nerve
- eye
- head
General:
- peripheral nervous system
Primer Products
-
OriGene qPCR primer pairs for LRPAP1
-
OriGene qPCR primer pairs and template standards for LRPAP1
- genomics-online: primer clones - Search results for available LRPAP1 gene related products
Gene Expression 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | LRPAP1 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | LRPAP1 34 33 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Lrpap1 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Lrpap1 16 34 33 |
|
||
| cow (Bos Taurus) |
Mammalia | LRPAP1 34 33 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | LRPAP1 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | LRPAP1 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | LRPAP1 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | lrpap1 33 |
|
||
| Str.1732 33 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | LOC398643 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | lrpap1 34 33 33 |
|
OneToOne | |
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP003521 33 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | CG8507 34 35 33 |
|
OneToOne | |
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.9235 34 |
|
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)
- Aminode:
- Evolutionary constrained regions (ECRs) for LRPAP1: view image
Paralogs for LRPAP1 Gene
No data available for Paralogs for LRPAP1 Gene
Variants 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 |
| 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 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LRPAP1 Gene
Disorders for LRPAP1 Gene
(8) MalaCards diseases for LRPAP1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| myopia 23, autosomal recessive |
|
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| rare isolated myopia |
|
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| myopia |
|
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| membranous nephropathy |
|
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| reticulate acropigmentation of kitamura |
|
|
Search LRPAP1 in MalaCards
View complete list of genes associated with diseases
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.
Additional Disease Information for LRPAP1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for LRPAP1 Gene
Publications for LRPAP1 Gene
- 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
- 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
- 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
- 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
- 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
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Sources for LRPAP1 Gene
- (1) GeneCards
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- (68) Cloud-Clone Corp.
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- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
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- (77) SIMAP
- (78) GenomeRNAi
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