Format

Send to:

Choose Destination

Links from PubMed

    • Showing Current items.

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

    Gene ID: 4043, updated on 6-Sep-2017
    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 MIM:104225; Vega:OTTHUMG00000090299
    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
    108 current GRCh38.p7 (GCF_000001405.33) 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 long intergenic non-protein coding RNA 955 Neighboring gene uncharacterized LOC105374357

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Myopia 23, autosomal recessive
    MedGen: C3809482 OMIM: 615431 GeneReviews: Not available
    Compare labs

    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
    amyloid-beta binding 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 
    low-density lipoprotein particle receptor binding TAS
    Traceable Author Statement
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    receptor antagonist activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    receptor antagonist activity TAS
    Traceable Author Statement
    more info
    PubMed 
    receptor binding TAS
    Traceable Author Statement
    more info
    PubMed 
    very-low-density lipoprotein particle receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Golgi lumen IEA
    Inferred from Electronic Annotation
    more info
     
    cell surface IEA
    Inferred from Electronic Annotation
    more info
     
    cis-Golgi network IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
     
    endoplasmic reticulum-Golgi intermediate compartment IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endosome lumen IEA
    Inferred from Electronic Annotation
    more info
     
    extracellular region TAS
    Traceable Author Statement
    more info
    PubMed 
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    rough endoplasmic reticulum lumen IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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
      ENSP00000421922.1, OTTHUMP00000115346, ENST00000500728.2, OTTHUMT00000206659
      Conserved Domains (3) summary
      cd14806
      Location:5867
      RAP_D1; 3-helical coiled coil [structural motif]
      pfam06400
      Location:25131
      Alpha-2-MRAP_N; Alpha-2-macroglobulin RAP, N-terminal domain
      pfam06401
      Location:146357
      Alpha-2-MRAP_C; Alpha-2-macroglobulin RAP, C-terminal domain

    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 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p7 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)
    Support Center