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LRPAP1 Gene

protein-coding GIFtS: 64
GCID: GC04M003508

Low Density Lipoprotein Receptor-Related Protein Associated...

(Previous name: low density lipoprotein-related protein-associated protein...)
(Previous symbol: A2MRAP)

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(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
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Aliases
Low Density Lipoprotein Receptor-Related Protein Associated Protein 1¹ ²		HBP44²
A2MRAP¹ ² ³ ⁵		MRAP²
Low Density Lipoprotein-Related Protein-Associated Protein 1 (Alpha-2-Macroglobulin Receptor-Associated Protein 1)¹ ²		alpha-2-MRAP²
RAP² ³		Alpha-2-Macroglobulin Receptor-Associated Protein²
MYP23² ⁵		Alpha-2-MRAP³
39 KDa Receptor-Associated Protein²		Low Density Lipoprotein Receptor-Related Protein-Associated Protein 1³
A2RAP²

External Ids:	HGNC: 6701¹	Entrez Gene: 4043²	Ensembl: ENSG00000163956⁷	OMIM: 104225⁵	UniProtKB: P30533³

Export aliases for LRPAP1 gene to outside databases

Previous GC identifers: GC04M003517 GC04M003420 GC04M003545 GC04M003551

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for LRPAP1 Gene:

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)

GeneCards Summary for LRPAP1 Gene:

LRPAP1 (low density lipoprotein receptor-related protein associated protein 1) is a protein-coding gene. Diseases associated with LRPAP1 include myopia 23, autosomal recessive, and myopia, high, with cataract and vitreoretinal degeneration. GO annotations related to this gene include heparin binding and low-density lipoprotein particle receptor binding.

UniProtKB/Swiss-Prot: AMRP_HUMAN, P30533

Function: Interacts with LRP1/alpha-2-macroglobulin receptor and glycoprotein 330

Gene Wiki entry for LRPAP1 (LDL-receptor-related protein associated protein) Gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:

NC_000004.12 NC_018915.2 NT_006051.19

Regulatory elements:

Regulatory transcription factor binding sites in the LRPAP1 gene promoter:
ER-alpha AML1a Sp1 YY1 STAT3 FOXO1a FOXO1 En-1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: LRPAP1 promoter sequence

Search Chromatin IP Primers for LRPAP1

Epigenetics:

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat LRPAP1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 4p16.3 Ensembl cytogenetic band: 4p16.3 HGNC cytogenetic band: 4p16.3

LRPAP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
LRPAP1 gene location

GeneLoc information about chromosome 4 GeneLoc Exon Structure

GeneLoc location for GC04M003508: view genomic region (about GC identifiers)

Start:	3,505,324 bp from pter	End:	3,534,286 bp from pter
Size:	28,963 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: AMRP_HUMAN, P30533 (See protein sequence)

Recommended Name: Alpha-2-macroglobulin receptor-associated protein precursor

Size: 357 amino acids; 41466 Da

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

Selected PDB 3D structures from and Proteopedia for LRPAP1 (see all 9):

1LRE (3D)

1NRE (3D)

1OP1 (3D)

1OV2 (3D)

2FCW (3D)

2FTU (3D)

Secondary accessions: D3DVR9 Q2M310 Q53HQ3 Q53HS6

Explore the universe of human proteins at neXtProt for LRPAP1: NX_P30533

Explore proteomics data for LRPAP1 at MOPED

Post-translational modifications:

N-glycosylated¹

Glycosylation² at Thr134, Asn268, Thr337, Ser346

Modification sites at PhosphoSitePlus

See LRPAP1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_002328.1

ENSEMBL proteins:

ENSP00000421922 ENSP00000421648

LRPAP1 Human Recombinant Protein Products:

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	Novus Biologicals LRPAP1 Proteins Novus Biologicals LRPAP1 Lysate
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LRPAP1 Antibody Products:

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	Cloud-Clone Corp. Antibodies for LRPAP1
	ThermoFisher Antibodies for LRPAP1
	LSBio Antibodies in human, mouse, rat for LRPAP1

LRPAP1 Assay Products:

	Browse Kits and Assays available from EMD Millipore
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	Cloud-Clone Corp. ELISAs for LRPAP1 Cloud-Clone Corp. CLIAs for LRPAP1

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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2 InterPro protein domains:

IPR010483 Alpha_2_MRAP_C

IPR009066 MG_RAP_rcpt_1

Graphical View of Domain Structure for InterPro Entry P30533

ProtoNet protein and cluster: P30533

1 Blocks protein domain: IPB009066 Alpha-2-macroglobulin receptor-associated protein

UniProtKB/Swiss-Prot: AMRP_HUMAN, P30533

Similarity: Belongs to the alpha-2-MRAP family

LRPAP1 for domains About GeneDecksing

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

UniProtKB/Swiss-Prot Summary: AMRP_HUMAN, P30533

Function: Interacts with LRP1/alpha-2-macroglobulin receptor and glycoprotein 330

Genatlas biochemistry entry for LRPAP1:

low density lipoprotein receptor related protein,associated protein 1

Gene Ontology (GO): 8 molecular function terms (see first 5): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004873	asialoglycoprotein receptor activity	TAS	2229028
GO:0005515	protein binding	IPI	8083232
GO:0008201	heparin binding	IEA	--
GO:0035473	lipase binding	IEA	--
GO:0048019	receptor antagonist activity	IDA	8083232
GO:0050750	low-density lipoprotein particle receptor binding	IDA	16263759
GO:0051082	unfolded protein binding	TAS	8654360
GO:0070326	very-low-density lipoprotein particle receptor binding	IPI	8083232

LRPAP1 for ontologies About GeneDecksing

Phenotypes:
9 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Lrpap1):

behavior/neurological	endocrine/exocrine gland	homeostasis/metabolism	mortality/aging	nervous system
normal	other	renal/urinary system	reproductive system

LRPAP1 for phenotypes About GeneDecksing

Animal Models:
MGI mouse knock-outs for LRPAP1: Lrpap1^tm1Vln Lrpap1^tm1Her

inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for LRPAP1

inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for LRPAP1

genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for LRPAP1

genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for LRPAP1

miRNA Products:		miRTarBase miRNAs that target LRPAP1: hsa-mir-615-3p (MIRT040189), hsa-mir-26b-5p (MIRT029205)

		Block miRNA regulation of human, mouse, rat LRPAP1 using miScript Target Protectors
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Inhib. RNA Products:		OriGene RNAi products in human, mouse, rat for LRPAP1
		Predesigned siRNA for gene silencing in human, mouse, rat LRPAP1

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for LRPAP1

Clone Products:		OriGene clones in human, mouse for LRPAP1 (see all 6) OriGene ORF clones in mouse, rat for LRPAP1 OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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		DNA2.0 Custom Codon Optimized Gene Synthesis Service for LRPAP1
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat LRPAP1

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for LRPAP1
		Browse ESI BIO Cell Lines and PureStem Progenitors for LRPAP1

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LRPAP1

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot

AMRP_HUMAN, P30533: Endoplasmic reticulum. Cytoplasm. Cell surface. Note=Intracellular and associated with cell

surface receptors. Found in the endoplasmic reticulum

Subcellular locations from COMPARTMENTS:

Compartment	Confidence
endoplasmic reticulum	5
plasma membrane	5
extracellular	4
cytoskeleton	2
cytosol	2
nucleus	1

About this image

Gene Ontology (GO): Selected cellular component terms (see all 7): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005576	extracellular region	IDA	8083232
GO:0005783	endoplasmic reticulum	IDA	--
GO:0005886	plasma membrane	IDA	16263759
GO:0009986	cell surface	IEA	--
GO:0016021	integral component of membrane	TAS	1712782

LRPAP1 for ontologies About GeneDecksing

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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SuperPaths for LRPAP1 About

See pathways by source

SuperPath

Contained pathways About

Signaling events mediated by the Hedgehog family

Signaling events mediated by the Hedgehog family

Reelin signaling pathway

Reelin signaling pathway

Lissencephaly gene (LIS1) in neuronal migration and development

Lissencephaly gene (LIS1) in neuronal migration and development

3 BioSystems Pathways for LRPAP1

	Lissencephaly gene (LIS1) in neuronal migration and development
	Reelin signaling pathway
	Signaling events mediated by the Hedgehog family

Pathway & Disease-focused RT² Profiler PCR Array including LRPAP1:

Lipoprotein Signaling & Cholesterol Metabolism in human mouse rat

Interactions:

GeneGlobe Interaction Network for LRPAP1

Selected Interacting proteins for LRPAP1 (P30533^{1, 2, 3}) via UniProtKB, MINT, STRING, and/or I2D (see all 28)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
POLA2	Q14181²^,³	MINT-63655 I2D: score=5
RTN4	Q9NQC3²^,³	MINT-63654 I2D: score=5
PPM1G	O15355²^,³	MINT-63653 I2D: score=4
VLDLR	P98155¹^,³	EBI-715927,EBI-9004309 I2D: score=2
CWC25	Q9NXE8³	I2D: score=4

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Gene Ontology (GO): Selected biological process terms (see all 7): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006457	protein folding	TAS	8654360
GO:0006898	receptor-mediated endocytosis	TAS	2229028
GO:0010916	negative regulation of very-low-density lipoprotein particle clearance	IDA	8083232
GO:0016192	vesicle-mediated transport	TAS	8654360
GO:0032091	negative regulation of protein binding	IDA	8083232

LRPAP1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse compounds at ApexBio

Browse Tocris compounds for LRPAP1 (AMRP)

Selected Novoseek inferred chemical compound relationships for LRPAP1 gene (see all 13) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
exotoxin-a	58.2	3	10326762 (1), 8694779 (1)
mannan	31.6	1	7579446 (1)
heparin	30.2	20	11382778 (6), 9253767 (2), 2229028 (2), 12637503 (1) (see all 5)
lovastatin	20.6	1	7822276 (1)
suramin	20.3	2	11604390 (2)
mannose	18.5	1	7579446 (1)
lysine	12	8	15025528 (3), 12637503 (2)
cholesterol	0	3	17987404 (1), 9030194 (1), 16704534 (1)
sucrose	0	1	8322889 (1)
lipid	0	2	12394648 (1), 18721259 (1)

LRPAP1 for compounds About GeneDecksing

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for LRPAP1 gene:

NM_002337.3

Unigene Cluster for LRPAP1:

Low density lipoprotein receptor-related protein associated protein 1

Hs.40966 [show with all ESTs]

Unigene Representative Sequence: NM_002337

4 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000500728(uc003ghh.4) ENST00000296325 ENST00000515119 ENST00000509198

miRNA Products:		Block miRNA regulation of human, mouse, rat LRPAP1 using miScript Target Protectors
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		DNA2.0 Custom Codon Optimized Gene Synthesis Service for LRPAP1
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		QuantiFast Probe-based Assays in human, mouse, rat LRPAP1

Additional mRNA sequence:

AF085973.1 AK128751.1 AK222504.1 AK222527.1 AK292321.1 AK311600.1 AK312698.1 AL365520.1

AL365522.1 BC006574.2 BC007841.1 BC013950.2 BC018955.2 BC105074.1 BC112067.1 BX647984.1

M63959.1

21 DOTS entries:

DT.91679654 DT.450524 DT.100879558 DT.95104282 DT.311312 DT.91696992 DT.422641 DT.97858164

DT.100810443 DT.100879555 DT.100879544 DT.80100088 DT.92450722 DT.100719826 DT.100804237 DT.100879568

DT.121225776 DT.40123802 DT.40304725 DT.80100089 DT.95104287

Selected AceView cDNA sequences (see all 696):

BX381548 BM700334 CR621877 BM727205 CA447726 CF265163 BQ575656 BU185055

CR595839 CB121214 CR613053 BQ881899 BM987580 BE275512 CD107520 AL518587

CR614498 W81715 BQ723211 CF132382 CB129347 BU859335 H98116 BI193075

GeneLoc Exon Structure

Selected Alternative Splicing Database (ASD) splice patterns (SP) for LRPAP1 (see all 8) About this scheme

ExUns:	1a	·	1b	^	2	^	3a	·	3b	^	4a	·	4b	·	4c	^	5	^	6a	·	6b	^	7a	·	7b	·	7c	^	8	^	9	^	10	^	11
SP1:					-		-				-																-		-
SP2:					-		-				-								-		-		-				-		-
SP3:					-		-				-
SP4:					-		-				-				-		-
SP5:					-		-

ECgene alternative splicing isoforms for LRPAP1

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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LRPAP1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: CACAGAGTCC

About this image

LRPAP1 expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database
selected tissues (see all 21) fully expand


Brain (Nervous System) fully expand to see all 7 entries
Cerebral Cortex

Ovary (Reproductive System) fully expand to see all 2 entries
Ovarian Mesenchymal Stroma Cells Ovary Interstitium
Oviduct

Neural Tube (Nervous System) fully expand to see all 2 entries
Diencephalic Roof Plate

Trophoblast (Extraembryonic Tissues) fully expand to see all 2 entries
Trophoblast Cells Trophoblast

Testis (Reproductive System)
Leydig Cells Testis Interstitium

LRPAP1 Protein expression data from MOPED¹, PaxDb² and MaxQB³:

About this image

LRPAP1 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.40966

Pathway & Disease-focused RT² Profiler PCR Array including LRPAP1:

Lipoprotein Signaling & Cholesterol Metabolism in human mouse rat

Primer Products:		OriGene qPCR primer pairs and template standards for LRPAP1 OriGene qSTAR qPCR primer pairs in human, mouse for LRPAP1
		Pre-validated RT² qPCR Primer Assay in human, mouse, rat LRPAP1
		QuantiTect SYBR Green Assays in human, mouse, rat LRPAP1
		QuantiFast Probe-based Assays in human, mouse, rat LRPAP1

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LRPAP1

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of animals.

Orthologs for LRPAP1 gene from Selected species (see all 14) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Lrpap1^{1 , 5}	low density lipoprotein receptor-related protein associated more^{1, 5}	80.58(n)¹ 77.18(a)¹		5 (18.01 cM)⁵ 16976¹ NM_013587.2¹ NP_038615.2¹ 35091490⁵
chicken (Gallus gallus)	Aves	LRPAP1¹	low density lipoprotein receptor-related protein associated more	67.77(n) 68.28(a)		395936 NM_205062.1 NP_990393.1
lizard (Anolis carolinensis)	Reptilia	LRPAP1⁶	low density lipoprotein receptor-related protein a...	68(a)	1 ↔ 1	GL343585.1(442453-445917)
African clawed frog (Xenopus laevis)	Amphibia	LOC398643²	hypothetical protein LOC398643	72.93(n)		BC054293.1
zebrafish (Danio rerio)	Actinopterygii	lrpap1²	low density lipoprotein receptor-related protein associated more	72.59(n)		333939 BC049517.1
fruit fly (Drosophila melanogaster)	Insecta	CG8507^{1 , 3}	CG8507¹	35(a)³ 51.5(n)¹ 37.5(a)¹		85E9³ 41205¹ NM_141693.3¹ NP_649950.1¹

ENSEMBL Gene Tree for LRPAP1 (if available)
TreeFam Gene Tree for LRPAP1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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SNP ID	Valid	Clinical significance	Chr 4 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs34897511^1,2	C	untested¹	3526636(-)	`CCTCAA/GTGGTA`	2	N S	mis¹		1		NA	76
rs75579599^1,2	F	--	3504859(+)	`CACCCC/GCTCGG`	1	--	ds500¹		1		EA	120
rs2858024^1,2	C,F,A,H	--	3504863(+)	`CCCTCT/GGTTCA`	1	--	ds500¹		11		NA WA CSA EA	374
rs142291237^1,2		--	3504892(+)	`CTCTCA/GGCACC`	1	--	ds500¹		0	--	--	--	--
rs151268315^1,2		--	3504902(+)	`CCGTGC/TCACAG`	1	--	ds500¹		0	--	--	--	--
rs115244597^1,2	F	--	3504933(+)	`CGAGGC/TGAGGC`	1	--	ds500¹		1		WA	118
rs139330572^1,2		--	3504958(+)	`TGGCAA/CCGCAC`	1	--	ds500¹		0	--	--	--	--
rs150033626^1,2	C	--	3504969(+)	`ACTCAC/GGCCCC`	1	--	ds500¹		0	--	--	--	--
rs145358617^1,2		--	3504980(+)	`ACACAC/TGGATG`	1	--	ds500¹		0	--	--	--	--
rs142591953^1,2		--	3505008(+)	`AGCTAC/TCAGCA`	1	--	ds500¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for LRPAP1 (3505324 - 3534286 bp)

Structural Variations
Database of Genomic Variants (DGV) Selected variations for LRPAP1 (see all 34): About this table

Variant ID	Type	Subtype	PubMed ID
esv2726908	CNV	Deletion	23290073
esv2726905	CNV	Deletion	23290073
esv2726904	CNV	Deletion	23290073
esv1183049	CNV	Deletion	17803354
esv2726902	CNV	Deletion	23290073
esv2726900	CNV	Deletion	23290073
esv1102085	CNV	Deletion	17803354
esv2726907	CNV	Deletion	23290073
esv1447823	CNV	Deletion	17803354
esv2726903	CNV	Deletion	23290073

Human Gene Mutation Database (HGMD): LRPAP1

Site Specific Mutation Identification with PCR Assays

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 104225
OMIM disorders: 615431
UniProtKB/Swiss-Prot: AMRP_HUMAN, P30533

Myopia 23, autosomal recessive (MYP23) [MIM:615431]: A refractive error of the eye, in which parallel

rays from a distant object come to focus in front of the retina, vision being better for near objects than for

far. Note=The disease is caused by mutations affecting the gene represented in this entry

Note=In complex with the alpha-2-MR or gp330, it may have some role in the pathogenesis of membrane

glomerular nephritis

Selected diseases for LRPAP1 (see all 29):
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myopia 23, autosomal recessive myopia, high, with cataract and vitreoretinal degeneration von willebrand's disease gallbladder cancer

lissencephaly venous thrombosis liposarcoma tuberous sclerosis

glomerulonephritis hypothyroidism wilms tumor nephritis

alzheimer's disease endometrial carcinoma peritonitis atherosclerosis

dementia myocardial infarction choroiditis retinitis

LRPAP1 for disorders About GeneDecksing

Congresses - knowledge worth sharing:
Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

7 Novoseek inferred disease relationships for LRPAP1 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
nephropathy membranous	66.8	1	9207124 (1)
glomerulonephritis	56.4	8	8238258 (2), 9207124 (1), 10886254 (1), 7579068 (1) (see all 7)
alzheimers disease	25.6	2	16650578 (1), 16938309 (1)
carcinoma embryonal	23	2	2229028 (1), 7615664 (1)
atherosclerosis	0	1	7959795 (1)
tumors	0	4	8640836 (2), 7957939 (1)
carcinoma	0	2	8238258 (1), 7957939 (1)

Genetic Association Database (GAD): LRPAP1
Human Genome Epidemiology (HuGE) Navigator: LRPAP1 (21 documents)

Export disorders for LRPAP1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for LRPAP1 gene, integrated from 10 sources (see all 211):
(articles sorted by number of sources associating them with LRPAP1)

Utopia: connect your pdf to the dynamic
world of online information

Analysis of the human LRPAP1 gene coding for the lipoprotein receptor-associated protein: identification of 22 polymorphisms and one mutation. (PubMed id 9782079)^{1, 2, 4, 9} Van Leuven F.... Nelissen B. (Genomics 1998)
Primary structure of alpha 2-macroglobulin receptor-associated protein. Human homologue of a Heymann nephritis antigen. (PubMed id 1712782)^{1, 2, 3} Strickland D.K.... Argraves W.S. (J. Biol. Chem. 1991)
39 kDa receptor-associated protein is an ER resident protein and molecular chaperone for LDL receptor-related protein. (PubMed id 7774585)^{1, 2, 9} Bu G.... Schwartz A.L. (EMBO J. 1995)
Cloning, characterization, and chromosomal localization to 4p16 of the human gene (LRPAP1) coding for the alpha 2-macroglobulin receptor- associated protein and structural comparison with the murine gene coding for the 44-kDa heparin-binding protein. (PubMed id 7789983)^{1, 2, 9} Van Leuven F.... Van den Berghe H. (Genomics 1995)
The 39-kDa receptor-associated protein interacts with two members of the low density lipoprotein receptor family, alpha 2-macroglobulin receptor and glycoprotein 330. (PubMed id 1400426)^{1, 2, 9} Kounnas M.Z.... Strickland D.K. (J. Biol. Chem. 1992)
Lipoprotein receptor associated protein (LRPAP1) insertion/deletion polymorphism: association with gallbladder cancer susceptibility. (PubMed id 17987404)^{1, 4, 9} Pandey S.N....Mittal B. (Int J Gastrointest Cancer 2006)
Alpha2-macroglobulin, lipoprotein receptor-related protein and lipoprotein receptor-associated protein and the genetic risk for developing Alzheimer's disease. (PubMed id 16650578)^{1, 4, 9} Depboylu C....Dodel R.C. (Neurosci. Lett. 2006)
Low-density lipoprotein receptor-related protein-associated protein (LRPAP1) gene IVS5 insertion/deletion polymorphism is not a risk factor for gallstone disease in a Polish population. (PubMed id 17913606)^{1, 4, 9} Juzyszyn Z....DroA_dzik M. (Dig Liver Dis 2008)
RAP uses a histidine switch to regulate its interaction with LRP in the ER and Golgi. (PubMed id 16678114)^{1, 2, 9} Lee D.... Wang Y.-X. (Mol. Cell 2006)
Association of low density lipoprotein receptor related protein-associated protein (LRPAP1) gene insertion/deletion polymorphism with gallstone disease. (PubMed id 16704534)^{1, 4, 9} Dixit M....Mittal B. (J. Gastroenterol. Hepatol. 2006)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 4043	HGNC: 6701	AceView: LRPAP1	Ensembl:ENSG00000163956	euGenes: HUgn4043
ECgene: LRPAP1	H-InvDB: LRPAP1

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for LRPAP1	Pharmacogenomics, SNPs, Pathways

Intellectual Property for LRPAP1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for LRPAP1 gene:
Search GeneIP for patents involving LRPAP1

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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