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LRPAP1 LDL receptor related protein associated protein 1 [ Homo sapiens (human) ]

Gene ID: 4043, updated on 12-May-2016
Official Symbol
LRPAP1provided by HGNC
Official Full Name
LDL receptor related protein associated protein 1provided by HGNC
Primary source
HGNC:HGNC:6701
See related
Ensembl:ENSG00000163956 HPRD:00082; MIM:104225
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
RAP; MRAP; A2RAP; HBP44; MYP23; A2MRAP; alpha-2-MRAP
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 with myopia 23. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]
Orthologs
Location:
4p16.3
Exon count:
9
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 4 NC_000004.12 (3503597..3532497, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (3505324..3534224, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105374354 Neighboring gene uncharacterized LOC105374355 Neighboring gene docking protein 7 Neighboring gene uncharacterized LOC105374356 Neighboring gene long intergenic non-protein coding RNA 955

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Myopia 23, autosomal recessive
MedGen: C3809482 OMIM: 615431 GeneReviews: Not available
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NHGRI GWAS Catalog

Description
Discovery and refinement of loci associated with lipid levels.
NHGRI GWA Catalog
Multiethnic meta-analysis of genome-wide association studies in >100 000 subjects identifies 23 fibrinogen-associated Loci but no strong evidence of a causal association between circulating fibrinogen and cardiovascular disease.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC138272

Gene Ontology Provided by GOA

Function Evidence Code Pubs
asialoglycoprotein receptor activity TAS
Traceable Author Statement
more info
PubMed 
heparin binding IEA
Inferred from Electronic Annotation
more info
 
lipase binding IEA
Inferred from Electronic Annotation
more info
 
low-density lipoprotein particle receptor binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
receptor antagonist activity IDA
Inferred from Direct Assay
more info
PubMed 
unfolded protein binding TAS
Traceable Author Statement
more info
PubMed 
very-low-density lipoprotein particle receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
extracellular negative regulation of signal transduction IEA
Inferred from Electronic Annotation
more info
 
negative regulation of beta-amyloid clearance IGI
Inferred from Genetic Interaction
more info
PubMed 
negative regulation of protein binding IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of very-low-density lipoprotein particle clearance IDA
Inferred from Direct Assay
more info
PubMed 
protein folding TAS
Traceable Author Statement
more info
PubMed 
receptor-mediated endocytosis IEA
Inferred from Electronic Annotation
more info
 
vesicle-mediated transport TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cell surface IEA
Inferred from Electronic Annotation
more info
 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 
extracellular region IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane TAS
Traceable Author Statement
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
rough endoplasmic reticulum lumen IEA
Inferred from Electronic Annotation
more info
 
vesicle IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
alpha-2-macroglobulin receptor-associated protein
Names
39 kDa receptor-associated protein
low density lipoprotein receptor-related protein associated protein 1
low density lipoprotein-related protein-associated protein 1 (alpha-2-macroglobulin receptor-associated protein 1)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_033873.1 RefSeqGene

    Range
    5001..33901
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_002337.3NP_002328.1  alpha-2-macroglobulin receptor-associated protein precursor

    See identical proteins and their annotated locations for NP_002328.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the protein.
    Source sequence(s)
    AK222504, AL590235, BC112067, BX647984, DB035408
    Consensus CDS
    CCDS3371.1
    UniProtKB/Swiss-Prot
    P30533
    Related
    ENSP00000421922, OTTHUMP00000115346, ENST00000500728, OTTHUMT00000206659
    Conserved Domains (4) summary
    pfam06401
    Location:144357
    Alpha-2-MRAP_C; Alpha-2-macroglobulin RAP, C-terminal domain
    cd14806
    Location:54124
    RAP_D1; Receptor-associated protein (RAP), Domain 1
    cd14807
    Location:146243
    RAP_D2; Domain 2 of receptor-associated protein (RAP)
    cd14808
    Location:252357
    RAP_D3; C-terminal receptor-associated protein (RAP), Domain 3

RNA

  1. NR_110005.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' terminal exon, compared to variant 1. This variant is represented as non-coding because it lacks an in-frame open reading frame compared to variant 1.
    Source sequence(s)
    AK222504, AK311600, AL590235, BX647984

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p2 Primary Assembly

    Range
    3503597..3532497 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018915.2 Alternate CHM1_1.1

    Range
    3503272..3531989 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)