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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] See more...
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-Macroglobulin Receptor-Associated Protein 3 4
- Alpha-2-MRAP 3 4
- A2MRAP 3 4
- HBP44 2 3
External Ids for LRPAP1 Gene
- HGNC: 6701
- NCBI Entrez Gene: 4043
- Ensembl: ENSG00000163956
- OMIM®: 104225
- UniProtKB/Swiss-Prot: 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 Summary 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
- HGNC (6701)
- NCBI Entrez Gene (4043)
- Ensembl (ENSG00000163956)
- OMIM® (104225)
- UniProtKB/Swiss-Prot (P30533)
- Open Targets Platform(ENSG00000163956)
- Monarch Initiative
- Alliance of Genome Resources
- Search for LRPAP1 at DataMed
- Search for LRPAP1 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for LRPAP1 Gene
Genomics for LRPAP1 Gene
GeneHancer (GH) Regulatory Elements Pubs
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 the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for LRPAP1
- Top Transcription factor binding sites by QIAGEN in the LRPAP1 gene promoter:
-
- AML1a
- En-1
- ER-alpha
- FOXO1
- FOXO1a
- Sp1
- STAT3
- YY1
Genomic Locations for LRPAP1 Gene
Latest Assembly
- chr4:3,503,612-3,532,497
- (GRCh38/hg38)
- Size:
- 28,886 bases
- Orientation:
- Minus strand
Previous Assembly
- chr4:3,505,339-3,534,149
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 28,811 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 HGNC
- 4p16.3 by Entrez Gene
- 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, PubMed:32296178). Interacts with LRP2/glycoprotein 330 (PubMed:1400426). Interacts with LRP1B; binding is followed by internalization and degradation (PubMed:11384978). Interacts with LDLR (PubMed:16630895). Interacts with SORL1 (PubMed:8940146, PubMed:11294867, PubMed:12530537, PubMed:15053742, PubMed:15364913, PubMed:26858303). Interacts with LRP1; this interaction is followed by rapid internalization (PubMed:15053742).
Protein Expression for LRPAP1 Gene
Post-translational modifications for LRPAP1 Gene
Other Protein References for LRPAP1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
- LifeSpan BioSciences LRPAP1 Antibody (LS-B10766) and LRPAP1 Antibody (LS-B14884)
- G Biosciences Immunotag™ LRPAP1 Antibody
- GeneTex Anti-LRPAP1 antibody [N1C3]
-
Custom Antibody ServicesOriGene Antibodies for LRPAP1
- Novus Biologicals Antibodies for LRPAP1
-
Abcam antibodies for LRPAP1
- Invitrogen Antibodies for LRPAP1 (AFLGC-Lrpap1)
-
Custom Antibody ServicesProSci Antibodies for LRPAP1
-
Santa Cruz Biotechnology (SCBT) Antibodies for LRPAP1
- Sino Biological Antibodies for LRPAP1
Protein products for research
- 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
-
Abcam proteins for LRPAP1
Assay products for research
- RayBiotech Custom Human LRPAP/RAP ELISA
- antibodies-online: Show 8 available LRPAP1 Elisa Kits ranked by validation data
- Compare Top LRPAP1 Elisa Kits
-
Quality 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 intracellular proteins
Protein Domains for LRPAP1 Gene
- InterPro:
- Blocks:
-
- Alpha-2-macroglobulin receptor-associated protein, domain 1
Suggested Antigen Peptide Sequences for LRPAP1 Gene
- GenScript: Design optimal peptide antigens:
-
- Low density lipoprotein receptor-related protein-associated protein 1 (AMRP_HUMAN)
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 | IBA | 21873635 |
Phenotypes for LRPAP1 Gene
- MGI mutant phenotypes for LRPAP1:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for LRPAP1:
-
- Increased vaccinia virus (VACV) infection
- Mildly decreased CFP-tsO45G cell surface transport
- no effect
- Decreased vaccinia virus (VACV) infection
- Increased epidermal growth factor (EGF) endocytosis, decreased transferrin (TF) endocytosis
- Decreased Sindbis virus (SIN) capsid and autophagosome LC3 protein colocalization
- Decreased mitophagy mCherry-Parkin protein expression after carbonyl cyanide m-chlorphenylhydrazone (CCCP) stimulation
Animal Models for LRPAP1 Gene
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for LRPAP1 - Starting at $85 >
- * LRPAP1 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for LRPAP1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for LRPAP1
-
Santa Cruz Biotechnology (SCBT) CRISPR 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 for research
Inhibitory RNAs for research
- 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
Clone products for research
- Applied Biological Materials (abm): Clones for LRPAP1 - Starting at $45 >
- * LRPAP1 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- 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
Cell Lines for research
-
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 |
| endosome | 5 |
| golgi apparatus | 5 |
| cytoskeleton | 2 |
| mitochondrion | 2 |
| nucleus | 2 |
| cytosol | 2 |
| lysosome | 2 |
| peroxisome | 1 |
- Endoplasmic reticulum (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005576 | extracellular region | TAS | 14645246 |
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005768 | endosome | IBA,IDA | 7774585 |
| GO:0005783 | endoplasmic reticulum | IEA,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
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0002091 | negative regulation of receptor internalization | IGI | 23386614 |
| GO:0007165 | signal transduction | IDA | 11294867 |
| GO:0010916 | negative regulation of very-low-density lipoprotein particle clearance | IBA,IDA | 8083232 |
| GO:0032091 | negative regulation of protein binding | IDA | 8083232 |
| 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 :
- 15 NCBI additional mRNA sequence :
- 6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000296325 1078 nts (view in UCSC)
- ENST00000509198 1170 nts (view in UCSC)
- ENST00000515119 1167 nts (view in UCSC)
- ENST00000648517 1256 nts (view in UCSC)
- ENST00000650182 10446 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for LRPAP1 - Starting at $85 >
- * LRPAP1 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for LRPAP1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for LRPAP1
-
Santa Cruz Biotechnology (SCBT) CRISPR for LRPAP1
miRNA products for research
Inhibitory RNAs for research
- 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
Clone products for research
- Applied Biological Materials (abm): Clones for LRPAP1 - Starting at $45 >
- * LRPAP1 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- 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
| 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
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
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for LRPAP1
SOURCE GeneReport for Unigene cluster for LRPAP1 Gene:
Hs.40966Evidence on tissue expression from TISSUES for LRPAP1 Gene
- Nervous system(4.9)
- Liver(4.5)
- Skin(4.2)
- Lung(3.8)
- Pancreas(3.7)
- Kidney(3.2)
- Heart(3.2)
- Intestine(3)
- Thyroid gland(3)
- Muscle(2.9)
- Eye(2.7)
- Stomach(2.6)
- Adrenal gland(2.6)
- Blood(2.4)
- Spleen(2.4)
- Bone marrow(2.4)
- Lymph node(2.2)
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 for research
-
OriGene qPCR primer pairs for LRPAP1
-
OriGene qPCR primer pairs and template standards for LRPAP1
Gene Expression Assays for research
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 29 30 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | LRPAP1 29 30 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Lrpap1 29 |
|
||
| Mouse (Mus musculus) |
Mammalia | Lrpap1 29 16 30 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | LRPAP1 29 30 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | LRPAP1 30 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | LRPAP1 29 30 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | LRPAP1 30 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | lrpap1 29 |
|
||
| Str.1732 29 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | LOC398643 29 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | lrpap1 29 30 |
|
OneToOne | |
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP003521 29 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | CG8507 29 30 31 |
|
OneToOne | |
| Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.9235 30 |
|
OneToOne |
- Species where no ortholog for LRPAP1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
- 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
- Alliance of Genome Resources:
- Additional Orthologs for LRPAP1
Paralogs for LRPAP1 Gene
No data available for Paralogs for LRPAP1 Gene
Variants for LRPAP1 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for LRPAP1 Gene
| SNP ID | Clinical significance and condition | Chr 04 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs111244551 | Likely Benign: not provided | 3,518,154(-) |
C/T NM_002337.4(LRPAP1):c.631G>A (p.Asp211Asn) |
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT | |
| rs139828333 | Benign: not provided | 3,532,332(-) |
G/A NM_002337.4(LRPAP1):c.81C>T (p.Pro27=) |
SYNONYMOUS | |
| rs142669297 | Benign: not provided | 3,524,929(-) |
C/T NM_002337.4(LRPAP1):c.327G>A (p.Ala109=) |
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS | |
| rs143257814 | Benign: not provided | 3,518,965(-) |
G/A NM_002337.4(LRPAP1):c.498C>T (p.Gly166=) |
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS | |
| rs143714310 | Likely Benign: not provided | 3,514,774(-) |
C/T NM_002337.4(LRPAP1):c.989G>A (p.Arg330Gln) |
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| 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 Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LRPAP1 Gene
Disorders for LRPAP1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| myopia 23, autosomal recessive |
|
|
| rare isolated myopia |
|
|
| myopia |
|
|
| membranous nephropathy |
|
|
| 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 variants affecting the gene represented in this entry.
Additional Disease Information for LRPAP1
- Human Genome Epidemiology Navigator
- (HuGE)
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
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 40
- 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
- Mutations in LRPAP1 are associated with severe myopia in humans. (PMID: 23830514) Aldahmesh MA … Alkuraya FS (American journal of human genetics 2013) 3 4 72
- LRP-associated protein gene (LRPAP1) and susceptibility to degenerative dementia. (PMID: 18721259) Pandey P … Mittal B (Genes, brain, and behavior 2008) 3 22 40
- 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 40
ExternalLinks
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Sources for LRPAP1 Gene
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