Human Gene LRPAP1 (uc003ghh.4) Description and Page Index
  Description: Homo sapiens low density lipoprotein receptor-related protein associated protein 1 (LRPAP1), mRNA.
RefSeq Summary (NM_002337): 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].
Transcript (Including UTRs)
   Position: hg19 chr4:3,505,324-3,534,224 Size: 28,901 Total Exon Count: 8 Strand: -
Coding Region
   Position: hg19 chr4:3,514,701-3,534,139 Size: 19,439 Coding Exon Count: 8 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr4:3,505,324-3,534,224)mRNA (may differ from genome)Protein (357 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMGI
neXtProtOMIMPubMedStanford SOURCEUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: AMRP_HUMAN
DESCRIPTION: RecName: Full=Alpha-2-macroglobulin receptor-associated protein; Short=Alpha-2-MRAP; AltName: Full=Low density lipoprotein receptor-related protein-associated protein 1; Short=RAP; Flags: Precursor;
FUNCTION: Interacts with LRP1/alpha-2-macroglobulin receptor and glycoprotein 330.
SUBUNIT: Present on cell surface forming a complex with the alpha- 2-macroglobulin receptor heavy and light chains. Binds LRP1B; binding is followed by internalization and degradation.
SUBCELLULAR LOCATION: Endoplasmic reticulum. Cytoplasm. Cell surface. Note=Intracellular and associated with cell surface receptors. Found in the endoplasmic reticulum.
PTM: N-glycosylated.
DISEASE: Note=In complex with the alpha-2-MR or gp330, it may have some role in the pathogenesis of membrane glomerular nephritis.
SIMILARITY: Belongs to the alpha-2-MRAP family.

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): LRPAP1
CDC HuGE Published Literature: LRPAP1
Positive Disease Associations: Alzheimer's Disease , gallstones , myocardial infarct , myocardial infarction
Related Studies:
  1. Alzheimer's Disease
    Sanchez L et al. 2001, Variation in the LRP-associated protein gene (LRPAP1) is associated with late-onset Alzheimer disease., American journal of medical genetics. 2001 Jan;105(1):76-8. [PubMed 11425005]
    According to our data, the variation at the LRPAP1 gene is associated with the risk of developing LOAD. This is in agreement with the role of the LRPAP1 protein in the amyloidogenic pathway.
  2. Alzheimer's Disease
    Sanchez, L. et al. 2001, Variation in the LRP-associated protein gene (LRPAP1) is associated with late-onset Alzheimer disease., American journal of medical genetics. 2001 Jan;105(1):76-8. [PubMed 11425005]
    According to our data, the variation at the LRPAP1 gene is associated with the risk of developing LOAD. This is in agreement with the role of the LRPAP1 protein in the amyloidogenic pathway.
  3. gallstones
    Dixit, M. et al. 2006, Association of lipoprotein receptor, receptor-associated protein, and metabolizing enzyme gene polymorphisms with gallstone disease, Hepatol Res 2006. [PubMed 16837242]
    LRPAP1, II genotype carrier females may have increased risk for gallstone disease.
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: LRPAP1
Diseases sorted by gene-association score: myopia 23, autosomal recessive* (919), rare isolated myopia* (202), myopia (11), membranous nephropathy (8), refractive error (7), reticulate acropigmentation of kitamura (7), babesiosis (6), rieger syndrome, type 2 (6)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 94.51 RPKM in Brain - Caudate (basal ganglia)
Total median expression: 2580.72 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -32.9085-0.387 Picture PostScript Text
3' UTR -4128.129377-0.440 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR010483 - Alpha_2_MRAP_C
IPR009066 - MG_RAP_rcpt_1

Pfam Domains:
PF06400 - Alpha-2-macroglobulin RAP, N-terminal domain
PF06401 - Alpha-2-macroglobulin RAP, C-terminal domain

SCOP Domains:
47045 - alpha-2-Macroglobulin receptor associated protein (RAP) domain 1

Protein Data Bank (PDB) 3-D Structure
MuPIT help

1LRE
- NMR MuPIT

1NRE
- NMR MuPIT

1OP1
- NMR MuPIT
To conserve bandwidth, only the images from the first 3 structures are shown.
1OV2 - NMR MuPIT 2FCW - X-ray MuPIT 2FTU - NMR MuPIT
2FYL - NMR MuPIT 2P01 - NMR 2P03 - NMR MuPIT


ModBase Predicted Comparative 3D Structure on P30533
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologGenome BrowserGenome BrowserGenome BrowserNo ortholog
Gene Details  Gene DetailsGene Details 
Gene Sorter  Gene SorterGene Sorter 
  EnsemblFlyBaseWormBase 
  Protein SequenceProtein SequenceProtein Sequence 
  AlignmentAlignmentAlignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0001540 beta-amyloid binding
GO:0005102 receptor binding
GO:0005515 protein binding
GO:0008201 heparin binding
GO:0035473 lipase binding
GO:0048019 receptor antagonist activity
GO:0050750 low-density lipoprotein particle receptor binding
GO:0070326 very-low-density lipoprotein particle receptor binding

Biological Process:
GO:0002091 negative regulation of receptor internalization
GO:0010916 negative regulation of very-low-density lipoprotein particle clearance
GO:0032091 negative regulation of protein binding
GO:0045056 transcytosis
GO:0048259 regulation of receptor-mediated endocytosis
GO:0060548 negative regulation of cell death
GO:1900116 extracellular negative regulation of signal transduction
GO:1900222 negative regulation of beta-amyloid clearance
GO:1900223 positive regulation of beta-amyloid clearance

Cellular Component:
GO:0005576 extracellular region
GO:0005737 cytoplasm
GO:0005768 endosome
GO:0005783 endoplasmic reticulum
GO:0005791 rough endoplasmic reticulum
GO:0005793 endoplasmic reticulum-Golgi intermediate compartment
GO:0005794 Golgi apparatus
GO:0005796 Golgi lumen
GO:0005801 cis-Golgi network
GO:0005886 plasma membrane
GO:0009986 cell surface
GO:0031904 endosome lumen
GO:0031982 vesicle
GO:0048237 rough endoplasmic reticulum lumen


-  Descriptions from all associated GenBank mRNAs
  AL365522 - Homo sapiens mRNA full length insert cDNA clone EUROIMAGE 358906.
AL365520 - Homo sapiens mRNA full length insert cDNA clone EUROIMAGE 2362292.
JD147536 - Sequence 128560 from Patent EP1572962.
JD463500 - Sequence 444524 from Patent EP1572962.
JD518954 - Sequence 499978 from Patent EP1572962.
JD416370 - Sequence 397394 from Patent EP1572962.
JD464410 - Sequence 445434 from Patent EP1572962.
JD271654 - Sequence 252678 from Patent EP1572962.
JD231080 - Sequence 212104 from Patent EP1572962.
BC007841 - Homo sapiens, clone IMAGE:4128195, mRNA, partial cds.
BC018955 - Homo sapiens cDNA clone IMAGE:4125322.
JD520584 - Sequence 501608 from Patent EP1572962.
JD520583 - Sequence 501607 from Patent EP1572962.
JD405518 - Sequence 386542 from Patent EP1572962.
JD461452 - Sequence 442476 from Patent EP1572962.
JD406768 - Sequence 387792 from Patent EP1572962.
JD523431 - Sequence 504455 from Patent EP1572962.
JD351745 - Sequence 332769 from Patent EP1572962.
JD448344 - Sequence 429368 from Patent EP1572962.
JD332358 - Sequence 313382 from Patent EP1572962.
JD175917 - Sequence 156941 from Patent EP1572962.
JD138305 - Sequence 119329 from Patent EP1572962.
JD541092 - Sequence 522116 from Patent EP1572962.
JD462360 - Sequence 443384 from Patent EP1572962.
JD344190 - Sequence 325214 from Patent EP1572962.
JD446718 - Sequence 427742 from Patent EP1572962.
JD565687 - Sequence 546711 from Patent EP1572962.
JD370317 - Sequence 351341 from Patent EP1572962.
JD249736 - Sequence 230760 from Patent EP1572962.
JD148241 - Sequence 129265 from Patent EP1572962.
JD249735 - Sequence 230759 from Patent EP1572962.
JD288474 - Sequence 269498 from Patent EP1572962.
JD500048 - Sequence 481072 from Patent EP1572962.
JD463756 - Sequence 444780 from Patent EP1572962.
JD489421 - Sequence 470445 from Patent EP1572962.
JD478510 - Sequence 459534 from Patent EP1572962.
JD543193 - Sequence 524217 from Patent EP1572962.
JD543192 - Sequence 524216 from Patent EP1572962.
JD249733 - Sequence 230757 from Patent EP1572962.
JD404871 - Sequence 385895 from Patent EP1572962.
JD538357 - Sequence 519381 from Patent EP1572962.
JD543191 - Sequence 524215 from Patent EP1572962.
JD376087 - Sequence 357111 from Patent EP1572962.
JD487983 - Sequence 469007 from Patent EP1572962.
JD374266 - Sequence 355290 from Patent EP1572962.
JD099588 - Sequence 80612 from Patent EP1572962.
JD141805 - Sequence 122829 from Patent EP1572962.
JD256035 - Sequence 237059 from Patent EP1572962.
JD489195 - Sequence 470219 from Patent EP1572962.
JD331187 - Sequence 312211 from Patent EP1572962.
JD411280 - Sequence 392304 from Patent EP1572962.
JD318123 - Sequence 299147 from Patent EP1572962.
JD071976 - Sequence 53000 from Patent EP1572962.
JD505457 - Sequence 486481 from Patent EP1572962.
JD070027 - Sequence 51051 from Patent EP1572962.
JD425904 - Sequence 406928 from Patent EP1572962.
JD255771 - Sequence 236795 from Patent EP1572962.
JD541337 - Sequence 522361 from Patent EP1572962.
JD139739 - Sequence 120763 from Patent EP1572962.
JD526115 - Sequence 507139 from Patent EP1572962.
JD290223 - Sequence 271247 from Patent EP1572962.
JD298400 - Sequence 279424 from Patent EP1572962.
JD167058 - Sequence 148082 from Patent EP1572962.
JD522701 - Sequence 503725 from Patent EP1572962.
JD151712 - Sequence 132736 from Patent EP1572962.
JD501604 - Sequence 482628 from Patent EP1572962.
AK128751 - Homo sapiens cDNA FLJ44726 fis, clone BRACE3024444.
JD444957 - Sequence 425981 from Patent EP1572962.
JD291539 - Sequence 272563 from Patent EP1572962.
JD300810 - Sequence 281834 from Patent EP1572962.
JD525008 - Sequence 506032 from Patent EP1572962.
JD358335 - Sequence 339359 from Patent EP1572962.
JD493551 - Sequence 474575 from Patent EP1572962.
JD300874 - Sequence 281898 from Patent EP1572962.
JD082164 - Sequence 63188 from Patent EP1572962.
JD119933 - Sequence 100957 from Patent EP1572962.
JD143397 - Sequence 124421 from Patent EP1572962.
JD346130 - Sequence 327154 from Patent EP1572962.
JD243054 - Sequence 224078 from Patent EP1572962.
JD146435 - Sequence 127459 from Patent EP1572962.
JD558225 - Sequence 539249 from Patent EP1572962.
JD564279 - Sequence 545303 from Patent EP1572962.
JD053545 - Sequence 34569 from Patent EP1572962.
JD533747 - Sequence 514771 from Patent EP1572962.
JD380321 - Sequence 361345 from Patent EP1572962.
JD179272 - Sequence 160296 from Patent EP1572962.
JD380320 - Sequence 361344 from Patent EP1572962.
JD481182 - Sequence 462206 from Patent EP1572962.
JD537016 - Sequence 518040 from Patent EP1572962.
JD113215 - Sequence 94239 from Patent EP1572962.
JD491105 - Sequence 472129 from Patent EP1572962.
JD074638 - Sequence 55662 from Patent EP1572962.
JD125462 - Sequence 106486 from Patent EP1572962.
JD228617 - Sequence 209641 from Patent EP1572962.
BC006574 - Homo sapiens cDNA clone IMAGE:3537327, partial cds.
BC013950 - Homo sapiens cDNA clone IMAGE:2821626, partial cds.
JD486828 - Sequence 467852 from Patent EP1572962.
JD040300 - Sequence 21324 from Patent EP1572962.
JD557753 - Sequence 538777 from Patent EP1572962.
JD261687 - Sequence 242711 from Patent EP1572962.
JD380372 - Sequence 361396 from Patent EP1572962.
JD196954 - Sequence 177978 from Patent EP1572962.
JD280776 - Sequence 261800 from Patent EP1572962.
JD234882 - Sequence 215906 from Patent EP1572962.
JD069698 - Sequence 50722 from Patent EP1572962.
JD513879 - Sequence 494903 from Patent EP1572962.
JD353700 - Sequence 334724 from Patent EP1572962.
JD267703 - Sequence 248727 from Patent EP1572962.
JD057949 - Sequence 38973 from Patent EP1572962.
JD331129 - Sequence 312153 from Patent EP1572962.
JD566014 - Sequence 547038 from Patent EP1572962.
JD150904 - Sequence 131928 from Patent EP1572962.
JD514485 - Sequence 495509 from Patent EP1572962.
JD524756 - Sequence 505780 from Patent EP1572962.
JD352542 - Sequence 333566 from Patent EP1572962.
JD519341 - Sequence 500365 from Patent EP1572962.
JD161308 - Sequence 142332 from Patent EP1572962.
JD153191 - Sequence 134215 from Patent EP1572962.
JD198422 - Sequence 179446 from Patent EP1572962.
JD272053 - Sequence 253077 from Patent EP1572962.
JD045929 - Sequence 26953 from Patent EP1572962.
JD551583 - Sequence 532607 from Patent EP1572962.
JD341173 - Sequence 322197 from Patent EP1572962.
DQ589974 - Homo sapiens piRNA piR-57086, complete sequence.
JD233528 - Sequence 214552 from Patent EP1572962.
JD193529 - Sequence 174553 from Patent EP1572962.
JD441993 - Sequence 423017 from Patent EP1572962.
JD298332 - Sequence 279356 from Patent EP1572962.
JD233778 - Sequence 214802 from Patent EP1572962.
DQ574188 - Homo sapiens piRNA piR-42300, complete sequence.
JD467408 - Sequence 448432 from Patent EP1572962.
JD245282 - Sequence 226306 from Patent EP1572962.
JD226002 - Sequence 207026 from Patent EP1572962.
JD090579 - Sequence 71603 from Patent EP1572962.
JD156296 - Sequence 137320 from Patent EP1572962.
JD093182 - Sequence 74206 from Patent EP1572962.
JD402323 - Sequence 383347 from Patent EP1572962.
JD489522 - Sequence 470546 from Patent EP1572962.
JD489522 - Sequence 470546 from Patent EP1572962.
JD402323 - Sequence 383347 from Patent EP1572962.
JD520616 - Sequence 501640 from Patent EP1572962.
JD257253 - Sequence 238277 from Patent EP1572962.
JD489522 - Sequence 470546 from Patent EP1572962.
JD402323 - Sequence 383347 from Patent EP1572962.
JD520612 - Sequence 501636 from Patent EP1572962.
JD489522 - Sequence 470546 from Patent EP1572962.
JD402323 - Sequence 383347 from Patent EP1572962.
JD520612 - Sequence 501636 from Patent EP1572962.
JD489522 - Sequence 470546 from Patent EP1572962.
JD402323 - Sequence 383347 from Patent EP1572962.
JD520612 - Sequence 501636 from Patent EP1572962.
JD489522 - Sequence 470546 from Patent EP1572962.
JD402323 - Sequence 383347 from Patent EP1572962.
JD520612 - Sequence 501636 from Patent EP1572962.
JD489522 - Sequence 470546 from Patent EP1572962.
JD402323 - Sequence 383347 from Patent EP1572962.
JD549866 - Sequence 530890 from Patent EP1572962.
JD124147 - Sequence 105171 from Patent EP1572962.
JD511355 - Sequence 492379 from Patent EP1572962.
AK222504 - Homo sapiens mRNA for low density lipoprotein receptor-related protein associated protein 1 variant, clone: adKA03255.
AK222527 - Homo sapiens mRNA for low density lipoprotein receptor-related protein associated protein 1 variant, clone: adSE01234.
BX647984 - Homo sapiens mRNA; cDNA DKFZp686L1352 (from clone DKFZp686L1352).
M63959 - Human alpha-2-macroglobulin receptor-associated protein mRNA, complete cds.
JD086769 - Sequence 67793 from Patent EP1572962.
JD260814 - Sequence 241838 from Patent EP1572962.
JD353527 - Sequence 334551 from Patent EP1572962.
JD078806 - Sequence 59830 from Patent EP1572962.
JD515530 - Sequence 496554 from Patent EP1572962.
JD532856 - Sequence 513880 from Patent EP1572962.
BC105074 - Homo sapiens low density lipoprotein receptor-related protein associated protein 1, mRNA (cDNA clone MGC:132734 IMAGE:8144077), complete cds.
BC112067 - Homo sapiens low density lipoprotein receptor-related protein associated protein 1, mRNA (cDNA clone MGC:138272 IMAGE:8327535), complete cds.
JD561124 - Sequence 542148 from Patent EP1572962.
JD188442 - Sequence 169466 from Patent EP1572962.
JD213947 - Sequence 194971 from Patent EP1572962.
JD108870 - Sequence 89894 from Patent EP1572962.
JD074285 - Sequence 55309 from Patent EP1572962.
JD100841 - Sequence 81865 from Patent EP1572962.
AK311600 - Homo sapiens cDNA, FLJ18642.
AK292321 - Homo sapiens cDNA FLJ78417 complete cds, highly similar to Homo sapiens low density lipoprotein receptor-related protein associated protein 1 (LRPAP1), mRNA.
AK312698 - Homo sapiens cDNA, FLJ93097, highly similar to Homo sapiens low density lipoprotein receptor-related protein associated protein 1 (LRPAP1), mRNA.
KJ891555 - Synthetic construct Homo sapiens clone ccsbBroadEn_00949 LRPAP1 gene, encodes complete protein.
AB463840 - Synthetic construct DNA, clone: pF1KB6492, Homo sapiens LRPAP1 gene for low density lipoprotein receptor-related protein associated protein 1, without stop codon, in Flexi system.
AK310598 - Homo sapiens cDNA, FLJ17640.
AK310851 - Homo sapiens cDNA, FLJ17893.

-  Other Names for This Gene
  Alternate Gene Symbols: A2MRAP, AMRP_HUMAN, D3DVR9, NM_002337, NP_002328, P30533, Q2M310, Q53HQ3, Q53HS6
UCSC ID: uc003ghh.4
RefSeq Accession: NM_002337
Protein: P30533 (aka AMRP_HUMAN)
CCDS: CCDS3371.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_002337.3
exon count: 8CDS single in 3' UTR: no RNA size: 10536
ORF size: 1074CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2348.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.