Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4043
Gene name Gene Name - the full gene name approved by the HGNC.
LDL receptor related protein associated protein 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
LRPAP1
Synonyms (NCBI Gene) Gene synonyms aliases
A2MRAP, A2RAP, HBP44, MRAP, MYP23, RAP, alpha-2-MRAP
Disease Acronyms (UniProt) Disease acronyms from UniProt database
MYP23
Chromosome Chromosome number
4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
4p16.3
Summary Summary of gene provided in NCBI Entrez 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
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs398122836 GA>- Pathogenic Coding sequence variant, non coding transcript variant, frameshift variant
rs773243225 G>A Likely-pathogenic Genic upstream transcript variant, upstream transcript variant, stop gained, coding sequence variant, non coding transcript variant
rs786205127 T>- Pathogenic Frameshift variant, coding sequence variant, non coding transcript variant
rs786205216 G>- Pathogenic Non coding transcript variant, coding sequence variant, frameshift variant, genic upstream transcript variant, upstream transcript variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT029205 hsa-miR-26b-5p Microarray 19088304
MIRT040189 hsa-miR-615-3p CLASH 23622248
MIRT708693 hsa-miR-649 HITS-CLIP 19536157
MIRT708692 hsa-miR-7153-3p HITS-CLIP 19536157
MIRT708691 hsa-miR-1228-3p HITS-CLIP 19536157
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001540 Function Amyloid-beta binding TAS 22383525
GO:0002091 Process Negative regulation of receptor internalization IBA 21873635
GO:0002091 Process Negative regulation of receptor internalization IGI 23386614
GO:0005102 Function Signaling receptor binding TAS 14645246
GO:0005515 Function Protein binding IPI 8083232, 10085125, 11294867, 17326667, 18687776, 19122660, 20030366, 20223215, 20584990, 26858303, 28514442, 32296183, 32814053
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
104225 6701 ENSG00000163956
Protein
UniProt ID P30533
Protein name Alpha-2-macroglobulin receptor-associated protein (Alpha-2-MRAP) (Low density lipoprotein receptor-related protein-associated protein 1) (RAP)
Protein function Molecular chaperone for LDL receptor-related proteins that may regulate their ligand binding activity along the secretory pathway.
PDB 1LRE , 1NRE , 1OP1 , 1OV2 , 2FCW , 2FTU , 2FYL , 2P01 , 2P03
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF06400 Alpha-2-MRAP_N 18 131 Alpha-2-macroglobulin RAP, N-terminal domain Domain
PF06401 Alpha-2-MRAP_C 145 357 Alpha-2-macroglobulin RAP, C-terminal domain Domain
Sequence
Sequence length 357
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  
  Cholesterol metabolism  
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Myopia Myopia, Severe myopia, MYOPIA 23, AUTOSOMAL RECESSIVE rs387907109, rs146936371, rs587776903, rs786205127, rs398122836, rs199624584, rs587777625, rs786205216, rs758872875, rs764211125, rs1135402746, rs765658563, rs1555941129, rs1555941116, rs199923805
View all (6 more)
23830514, 26271838, 25525168, 1400426
Rare isolated myopia Rare isolated myopia rs773243225 25525168, 26271838, 23830514
Unknown
Disease term Disease name Evidence References Source
Myocardial infarction Myocardial Infarction 21211798 ClinVar
Associations from Text Mining
Disease Name Relationship Type References
Alzheimer Disease Associate 18721259, 26856603
Arthritis Rheumatoid Associate 36973646
Astigmatism Associate 39444998
Atherosclerosis Associate 32939876
Colorectal Neoplasms Associate 32939876
COVID 19 Associate 36012423
Death Inhibit 18243176
Dementia Vascular Associate 18721259
Depressive Disorder Associate 22348086
Diabetes Mellitus Associate 32939876