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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]
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 Signaling events mediated by the Hedgehog family and Reelin signaling pathway. Gene Ontology (GO) annotations related to this gene include heparin binding and low-density lipoprotein particle receptor binding.
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,IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | TAS | 14645246 |
GO:0005737 | cytoplasm | IEA | -- |
GO:0005768 | endosome | IEA,IDA | 7774585 |
GO:0005783 | endoplasmic reticulum | IEA,IDA | -- |
GO:0005791 | rough endoplasmic reticulum | IEA | -- |
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 |
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 | IDA | 8083232 |
GO:0032091 | negative regulation of protein binding | IDA | 8083232 |
GO:0048259 | regulation of receptor-mediated endocytosis | IDA | 7774585 |
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: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | LRPAP1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | LRPAP1 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Lrpap1 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Lrpap1 30 17 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | LRPAP1 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | LRPAP1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | LRPAP1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | LRPAP1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | lrpap1 30 |
|
||
Str.1732 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | LOC398643 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | lrpap1 30 31 |
|
OneToOne | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP003521 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG8507 30 31 32 |
|
OneToOne | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.9235 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 04 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
708767 | Benign: not provided | 3,532,303(-) | C/G | MISSENSE_VARIANT | |
715598 | Likely Benign: not provided | 3,514,774(-) | C/T | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
721072 | Benign: not provided | 3,518,967(-) | C/T | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
723992 | Benign: not provided | 3,518,965(-) | G/A | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
723993 | Benign: not provided | 3,532,332(-) | G/A | SYNONYMOUS_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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
myopia 23, autosomal recessive |
|
|
rare isolated myopia |
|
|
myopia |
|
|
membranous nephropathy |
|
|
refractive error |
|
|