Gene Gene information from NCBI Gene database.
Entrez ID 4043
Gene name LDL receptor related protein associated protein 1
Gene symbol LRPAP1
Synonyms (NCBI Gene)
A2MRAPA2RAPHBP44MRAPMYP23RAPalpha-2-MRAP
Chromosome 4
Chromosome location 4p16.3
Summary 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.
4
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.
1109
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
49
GO ID Ontology Definition Evidence Reference
GO:0001540 Function Amyloid-beta binding TAS 22383525
GO:0002091 Process Negative regulation of receptor internalization IBA
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, 33961781
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
104225 6701 ENSG00000163956
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
9
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Myopia 23, autosomal recessive Pathogenic; Likely pathogenic rs763010898, rs786205216, rs786205127, rs398122836 RCV002052267
RCV000170452
RCV000055654
RCV000055655
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rare isolated myopia Likely pathogenic rs773243225 RCV000610398
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMERS DISEASE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Gastric cancer Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LRPAP1-related disorder Uncertain significance; Likely benign; Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Aggressive Periodontitis Aggressive Periodontitis BEFREE 11762875
★☆☆☆☆
Found in Text Mining only
Alport Syndrome Alport Syndrome BEFREE 28843411
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 18721259, 26856603 Associate
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease, Late Onset Alzheimer disease BEFREE 11425005
★☆☆☆☆
Found in Text Mining only
Androgen-Insensitivity Syndrome Androgen-Insensitivity Syndrome BEFREE 30261857
★☆☆☆☆
Found in Text Mining only
Anemia Anemia BEFREE 24795345
★☆☆☆☆
Found in Text Mining only
Anemia, Diamond-Blackfan Anemia BEFREE 26109203
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 36973646 Associate
★☆☆☆☆
Found in Text Mining only
Astigmatism Astigmatism Pubtator 39444998 Associate
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis Pubtator 32939876 Associate
★☆☆☆☆
Found in Text Mining only