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

Gene ID: 4043, updated on 1-Mar-2024

Summary

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; AllianceGenome:HGNC:6701
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]
Expression
Ubiquitous expression in kidney (RPKM 14.2), placenta (RPKM 12.8) and 25 other tissues See more
Orthologs
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Genomic context

See LRPAP1 in Genome Data Viewer
Location:
4p16.3
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (3503612..3532422, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (3503365..3532077, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (3505339..3534149, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15205 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:3450782-3451585 Neighboring gene HGF activator Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:3463811-3464658 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:3467576-3468185 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:3469405-3470012 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:3474943-3475654 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:3476364-3476557 Neighboring gene vegetative cell wall protein gp1-like Neighboring gene docking protein 7 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:3481667-3482258 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr4:3482478-3483445 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:3483446-3484412 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:3486115-3487314 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:3487316-3488282 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15206 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:3494329-3494850 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr4:3510576-3511775 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:3516456-3517655 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:3517921-3518540 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:3528991-3529881 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:3529882-3530771 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15207 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21225 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15208 Neighboring gene uncharacterized LOC124900650 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:3565549-3566194 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:3566195-3566840 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:3566841-3567484 Neighboring gene long intergenic non-protein coding RNA 955 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:3588685-3589343 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:3589864-3590364

Genomic regions, transcripts, and products

Expression

  • 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

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

EBI GWAS Catalog

Description
Discovery and refinement of loci associated with lipid levels.
EBI GWAS 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.
EBI GWAS Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • MGC138272

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables amyloid-beta binding TAS
Traceable Author Statement
more info
PubMed 
enables heparin binding IEA
Inferred from Electronic Annotation
more info
 
enables lipase binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables low-density lipoprotein particle receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables low-density lipoprotein particle receptor binding IDA
Inferred from Direct Assay
more info
PubMed 
enables low-density lipoprotein particle receptor binding TAS
Traceable Author Statement
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables receptor antagonist activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables receptor antagonist activity IDA
Inferred from Direct Assay
more info
PubMed 
enables receptor antagonist activity TAS
Traceable Author Statement
more info
PubMed 
enables receptor ligand activity IDA
Inferred from Direct Assay
more info
PubMed 
enables signaling receptor binding TAS
Traceable Author Statement
more info
PubMed 
enables very-low-density lipoprotein particle receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables very-low-density lipoprotein particle receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
located_in Golgi apparatus IDA
Inferred from Direct Assay
more info
PubMed 
located_in Golgi lumen IEA
Inferred from Electronic Annotation
more info
 
located_in cell surface IEA
Inferred from Electronic Annotation
more info
 
is_active_in cis-Golgi network IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in cis-Golgi network IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in endomembrane system IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 
is_active_in endoplasmic reticulum-Golgi intermediate compartment IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in endoplasmic reticulum-Golgi intermediate compartment IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in endosome IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in endosome IDA
Inferred from Direct Assay
more info
PubMed 
located_in endosome lumen IEA
Inferred from Electronic Annotation
more info
 
located_in extracellular region TAS
Traceable Author Statement
more info
PubMed 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in rough endoplasmic reticulum lumen IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in rough endoplasmic reticulum lumen IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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)

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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
    5076..33886
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1299

mRNA and Protein(s)

  1. NM_002337.4NP_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
    D3DVR9, P30533, Q2M310, Q53HQ3, Q53HS6
    UniProtKB/TrEMBL
    B2R6S9
    Related
    ENSP00000497444.1, ENST00000650182.1
    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_110005.2 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: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    3503612..3532422 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    3503365..3532077 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)