ENSG00000163956


Homo sapiens

Features
Gene ID: ENSG00000163956
  
Biological name :LRPAP1
  
Synonyms : LDL receptor related protein associated protein 1 / LRPAP1 / P30533
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 4
Strand: -1
Band: p16.3
Gene start: 3506376
Gene end: 3532559
  
Corresponding Affymetrix probe sets: 201186_at (Human Genome U133 Plus 2.0 Array)   242705_x_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000421648
Ensembl peptide - ENSP00000421922
NCBI entrez gene - 4043     See in Manteia.
OMIM - 104225
RefSeq - NM_002337
RefSeq Peptide - NP_002328
swissprot - D6REW6
swissprot - P30533
Ensembl - ENSG00000163956
  
Related genetic diseases (OMIM): 615431 - Myopia 23, autosomal recessive, 615431
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 lrpap1ENSDARG00000033604Danio rerio
 LRPAP1ENSGALG00000015612Gallus gallus
 Lrpap1ENSMUSG00000029103Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR009066  Alpha-2-macroglobulin receptor-associated protein, domain 1
 IPR010483  Alpha-2-macroglobulin RAP, C-terminal
 IPR036744  RAP domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0002091 negative regulation of receptor internalization IGI
 biological_processGO:0010916 negative regulation of very-low-density lipoprotein particle clearance IDA
 biological_processGO:0032091 negative regulation of protein binding IDA
 biological_processGO:0045056 transcytosis IMP
 biological_processGO:0048259 regulation of receptor-mediated endocytosis IDA
 biological_processGO:0060548 negative regulation of cell death IGI
 biological_processGO:1900116 extracellular negative regulation of signal transduction IEA
 biological_processGO:1900222 negative regulation of amyloid-beta clearance IGI
 biological_processGO:1900223 positive regulation of amyloid-beta clearance TAS
 cellular_componentGO:0005576 extracellular region IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005768 endosome IEA
 cellular_componentGO:0005783 endoplasmic reticulum IDA
 cellular_componentGO:0005791 rough endoplasmic reticulum IEA
 cellular_componentGO:0005793 endoplasmic reticulum-Golgi intermediate compartment IDA
 cellular_componentGO:0005794 Golgi apparatus IEA
 cellular_componentGO:0005796 Golgi lumen IEA
 cellular_componentGO:0005801 cis-Golgi network IDA
 cellular_componentGO:0005886 plasma membrane IDA
 cellular_componentGO:0009986 cell surface IEA
 cellular_componentGO:0031904 endosome lumen IEA
 cellular_componentGO:0031982 vesicle IEA
 cellular_componentGO:0048237 rough endoplasmic reticulum lumen IEA
 molecular_functionGO:0001540 amyloid-beta binding TAS
 molecular_functionGO:0005102 signaling receptor binding TAS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008201 heparin binding IEA
 molecular_functionGO:0035473 lipase binding IEA
 molecular_functionGO:0048019 receptor antagonist activity IEA
 molecular_functionGO:0050750 low-density lipoprotein particle receptor binding IEA
 molecular_functionGO:0070326 very-low-density lipoprotein particle receptor binding IPI


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000505 Impaired vision 
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 HP:0007663 Decreased central vision 
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 HP:0007800 Increased axial globe length 
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 HP:0011003 Severe Myopia 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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