LDLRAP1 Gene
protein-coding GIFtS: 56
GCID: GC01P025870
|
|
low density lipoprotein receptor adaptor protein 1
| |
Aliases for LDLRAP1 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb) About This Section
|
| Aliases |
|---|
| Low Density Lipoprotein Receptor Adaptor Protein 11 2 | | DKFZp586D06241 | | ARH1 2 3 5 | | MGC347051 | | FHCB11 2 5 | | ARH12 | | FHCB21 2 5 | | LDL Receptor Adaptor Protein2 | | ARH21 2 | | Low Density Lipoprotein Receptor Adapter Protein 12 | | Autosomal Recessive Hypercholesterolemia Protein2 3 | | |
Export aliases for LDLRAP1 gene to outside databasesPrevious GC identifers: GC01P025574 GC01P025742 GC01P024124 |
Summaries for LDLRAP1 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| Entrez Gene summary for LDLRAP1: The protein encoded by this gene is a cytosolic protein which contains a phosphotyrosine binding (PTD) domain. The PTDdomain has been found to interact with the cytoplasmic tail of the LDL receptor. Mutations in this gene lead to LDLreceptor malfunction and cause the disorder autosomal recessive hypercholesterolaemia. (provided by RefSeq, Jul 2008) UniProtKB/Swiss-Prot: ARH_HUMAN, Q5SW96Function: Adapter protein (clathrin-associated sorting protein (CLASP)) required for efficient endocytosis of the LDLreceptor (LDLR) in polarized cells such as hepatocytes and lymphocytes, but not in non-polarized cells (fibroblasts).May be required for LDL binding and internalization but not for receptor clustering in coated pits. May facilitate theendocytocis of LDLR and LDLR-LDL complexes from coated pits by stabilizing the interaction between the receptor andthe structural components of the pits. May also be involved in the internalization of other LDLR family members. Bindsto phosphoinositides, which regulate clathrin bud assembly at the cell surface Gene Wiki entry for LDLRAP1 (Low density lipoprotein receptor adapter protein 1)
|
Genomic Views for LDLRAP1 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 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics) About This Section
| RefSeq DNA sequence:- NC_000001.10 NC_018912.1 NT_004610.19
Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the LDLRAP1 gene promoter: Tal-1 AP-2alpha isoform 3 AP-2alpha isoform 2 Tal-1beta E47 AP-2alpha isoform 4 AP-2alpha ITF-2 Pax-4a AP-2alphaA Other transcription factors
Search SABiosciences Chromatin IP Primers for LDLRAP1
Epigenetics:
|  | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat LDLRAP1 |
Genomic Location: Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 1p36-p35 Ensembl cytogenetic band: 1p36.11 HGNC cytogenetic band: 1p36-p35LDLRAP1 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)

GeneLoc information about chromosome 1 GeneLoc Exon Structure GeneLoc location for GC01P025870: view genomic region
(about GC identifiers)
Start:
|
25,870,071 bp from pter |
End:
|
25,895,377 bp from pter |
Size:
|
25,307 bases |
Orientation:
|
plus strand |
|
Proteins for LDLRAP1 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
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
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
| UniProtKB/Swiss-Prot: ARH_HUMAN, Q5SW96 (See
protein sequence)Recommended Name: Low density lipoprotein receptor adapter protein 1 Size: 308 amino acids; 33885 Da
Subunit: Interacts with LDLR. Binds to soluble clathrin trimers. Interacts with AP2B1; the interaction mediates theassociation with the AP-2 complex. Interacts with VLDLR (By similarity)
Subcellular location: Cytoplasm
1 PDB 3D structure from and Proteopedia for LDLRAP1:2G30 (3D)
 
Secondary accessions: A2BHI5 Q6TQS9 Q8N2Y0 Q9UFI9Explore the universe of human proteins at neXtProt for LDLRAP1: NX_Q5SW96
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q5SW96 LDLRAP1 Protein expression data from MOPED and PaxDb: About this image 
 REFSEQ proteins: NP_056442.2 ENSEMBL proteins: ENSP00000363458 Human Recombinant Protein Products for LDLRAP1:
Gene Ontology (GO): 5/10 cellular component terms (GO ID links to tree view) (see all 10): About this table
LDLRAP1 for ontologies About GeneDecksing
LDLRAP1 Antibody Products: Assay Products for LDLRAP1: |
Protein
Domains / Families for LDLRAP1 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
LDLRAP1 for domains About GeneDecksing
2 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q5SW96ProtoNet protein and cluster: Q5SW96 1 Blocks protein family: IPB006020 Phosphotyrosine interaction domain
UniProtKB/Swiss-Prot: ARH_HUMAN, Q5SW96Domain: The [DE]-X(1,2)-F-X-X-[FL]-X-X-X-R motif mediates interaction the AP-2 complex subunit AP2B1Similarity: Contains 1 PID domain |
Function for LDLRAP1 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
inGenious Targeting Laboratory,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase,
shRNA from
OriGene,
Sirion Biotech,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Sirion Biotech,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
Sirion Biotech,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
| Molecular Function: UniProtKB/Swiss-Prot Summary: ARH_HUMAN, Q5SW96Function: Adapter protein (clathrin-associated sorting protein (CLASP)) required for efficient endocytosis of the LDLreceptor (LDLR) in polarized cells such as hepatocytes and lymphocytes, but not in non-polarized cells (fibroblasts).May be required for LDL binding and internalization but not for receptor clustering in coated pits. May facilitate theendocytocis of LDLR and LDLR-LDL complexes from coated pits by stabilizing the interaction between the receptor andthe structural components of the pits. May also be involved in the internalization of other LDLR family members. Bindsto phosphoinositides, which regulate clathrin bud assembly at the cell surface Gene Ontology (GO): 5/10 molecular function terms (GO ID links to tree view) (see all 10): About this table
LDLRAP1 for ontologies About GeneDecksing
Phenotypes: 1 MGI mutant phenotype (inferred from 2 alleles ) (MGI details for Ldlrap1):
LDLRAP1 for phenotypes About GeneDecksing
Animal Models: Mouse knock-out Ldlrap1tm1Her for LDLRAP1
Clone Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for LDLRAP1 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for LDLRAP1 OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: LDLRAP1 (NM_015627) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for LDLRAP1 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat LDLRAP1  |
In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LDLRAP1 |
|
Pathways & Interactions for LDLRAP1 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
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 Mar 2013 via
Entrez Gene).
About This Section
| Unified GeneCards pathways  About this table  See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Endocytosis | | | 2 | Transport of MHC II:Ii complex along Golgi to TGN | |
Pathway sources See GeneCards unified pathways Show all pathways
1 GeneGo (Thomson Reuters) Pathway for LDLRAP1
1
Kegg Pathway (Kegg details for LDLRAP1):
LDLRAP1 for pathways About GeneDecksing
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for LDLRAP1
STRING Interaction
Network Preview (showing 5 interactants - click image to see 20)
 5/577 Interacting proteins for LDLRAP1 (Q5SW962, 3 ENSP000003634584) via UniProtKB, MINT, STRING, and/or I2D (see all 577)About this table
Gene Ontology (GO): 5/12 biological process terms (GO ID links to tree view) (see all 12): About this table
LDLRAP1 for ontologies About GeneDecksing
|
Drugs & Compounds for LDLRAP1 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
LDLRAP1 for compounds About GeneDecksing
Browse Tocris compounds for LDLRAP1 2 Novoseek chemical compound relationships for LDLRAP1 gene About this table
| Compound |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| phosphotyrosine |
63.5 |
4 |
12642779 (2), 12944396 (1), 11326085 (1) |
| cholesterol |
40.5 |
1 |
17686643 (1) |
Search CenterWatch for drugs/clinical trials and news about LDLRAP1 / ARH 
|
Transcripts for LDLRAP1 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
Sirion Biotech,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
) About This Section
| REFSEQ mRNAs for LDLRAP1 gene: NM_015627.2 Unigene Cluster for LDLRAP1: Low density lipoprotein receptor adaptor protein 1 Hs.590911 [show with all ESTs]Unigene Representative Sequence: AK0243977 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000374338(uc001bkl.4 uc009vrw.3 uc009vrx.3) ENST00000485476 ENST00000488127 ENST00000462394 ENST00000484476 ENST00000474283 ENST00000470950
Clone Products: |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for LDLRAP1 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for LDLRAP1 OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: LDLRAP1 (NM_015627) | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for LDLRAP1 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat LDLRAP1  |
Additional cDNA sequence: AK024397.1 AK091219.1 AK124554.1 AK309850.1 AK309853.1 AL117654.1 BC029770.1 14 DOTS entries: DT.455406 DT.101978968 DT.99990464 DT.121357757 DT.95126865 DT.121357677 DT.91694368 DT.97846831 DT.100693499 DT.121357751 DT.75113596 DT.86847093 DT.95273805 DT.121357760 24/203 AceView cDNA sequences (see all 203): BU786100 BQ877331 BQ447186 BM701928 AI335106 BQ549641 BM826858 BU175021 BU786030 AI168056 CD743132 AW590198 BU786226 BM764670 AI671247 BM671079 AI241854 AA464113 AI990732 BE736664 BM989106 CB853699 AI378847 R88539 GeneLoc Exon Structure
|
Expression for LDLRAP1 gene
(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™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| LDLRAP1 expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this imageBioGPS CGAP TAG: --
 About this image See LDLRAP1 Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for LDLRAP1
SOURCE GeneReport for Unigene cluster: Hs.590911
UniProtKB/Swiss-Prot: ARH_HUMAN, Q5SW96Tissue specificity: Expressed at high levels in the kidney, liver, and placenta, with lower levels detectable in brain,heart, muscle, colon, spleen, intestine, lung, and leukocytes SABiosciences Expression via Pathway-Focused PCR Array including LDLRAP1: | Lipoprotein Signaling & Cholesterol Metabolism in human mouse rat |
Primer Products: |  | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for LDLRAP1 Browse OriGene validated miRNA SYBR primer pairs
| |  | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat LDLRAP1 | |  | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat LDLRAP1 | |  | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat LDLRAP1 | In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LDLRAP1 |
Orthologs for LDLRAP1 gene
(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)
About This Section
|
This gene was present in the common ancestor of animals.
Orthologs for LDLRAP1 gene from 5/16 species (see all 16) About this table
| Organism |
Taxonomic classification |
Gene |
Description |
Human Similarity |
Orthology Type |
Details |
chicken (Gallus gallus) |
Aves |
LDLRAP11 |
low density lipoprotein receptor adaptor protein 1 |
70.7(n) 73.53(a) |
  |
419589 XM_417736.3 XP_417736.1 |
lizard (Anolis carolinensis) |
Reptilia |
LDLRAP16 |
-- |
88(a) |
1 ↔ 1 |
GL343703.1(243755-247725) |
African clawed frog (Xenopus laevis) |
Amphibia |
Xl.83552 |
Xenopus laevis, clone IMAGE4930486, mRNA |
75.77(n) |
  |
BC043872.1 |
zebrafish (Danio rerio) |
Actinopterygii |
sbcb502 |
sbcb50 |
79.45(n) |
  |
368278 BC045926.1 |
honey bee (Apis mellifera) |
Insecta |
---- |
-- |
37(a)31(a) |
1 ↔ many1 ↔ many |
Group3.31(655-81486) GroupUn.4328(8340-13752) |
ENSEMBL Gene Tree for LDLRAP1 (if available) TreeFam Gene Tree for LDLRAP1 (if available)  |
Paralogs for LDLRAP1 gene(Paralogs according to
1HomoloGene, 2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68) About This Section
| Paralogs for LDLRAP1 gene
- NUMB2 NUMBL2 GULP12
LDLRAP1 for paralogs About GeneDecksing
|
Genomic Variants for LDLRAP1 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, 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) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical significance | Chr 1 pos | Sequence | # | AA Chg | Type | More | # | Allele freq | Pop | Total sample | More |
|---|
HapMap Linkage Disequilibrium report for LDLRAP1 (25870071 - 25895377 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV) variations for LDLRAP1: -- Human Gene Mutation Database (HGMD): LDLRAP1
Locus Specific Mutation Databases (LSDB): LDLRAP1
 | SABiosciences Cancer Mutation PCR Assays |
|  | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing LDLRAP1 |
|
Disorders
/ Diseases for LDLRAP1 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
LDLRAP1 for disorders About GeneDecksing
OMIM gene information: 605747 OMIM disorders: 603813 UniProtKB/Swiss-Prot: ARH_HUMAN, Q5SW96
Defects in LDLRAP1 are the cause of autosomal recessive hypercholesterolemia (ARH) [MIM:603813]. ARH is adisorder caused by defective internalization of LDL receptors (LDLR) in the liver. ARH has the clinical features offamilial hypercholesterolemia (FH) [MIM:143890] homozygotes, including severely elevated plasma LDL cholesterol,tuberous and tendon xanthomata, and premature atherosclerosis. LDL receptor (LDLR) activity measured in skinfibroblasts is normal, as the LDL binding ability 8 diseases for LDLRAP1: About MalaCardshypercholesterolemia xanthomatosis familial hypercholesterolemia scrapie hepatitis b myeloma hepatitis cholesterol
6 Novoseek disease relationships for LDLRAP1 gene About this table
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| hypercholesterolemia, autosomal recessive |
98.4 |
15 |
17686643 (2), 15599766 (2), 12535754 (2), 11326085 (2) (see all 10) |
| xanthomatosis |
84.5 |
2 |
15599766 (1), 12642779 (1) |
| hypercholesterolemia familial |
79.5 |
2 |
17150201 (1), 11326085 (1) |
| hypercholesterolemia |
71.5 |
10 |
12535754 (2), 16129683 (1), 17150201 (1), 15472122 (1) (see all 8) |
| coronary artery disease |
25.1 |
2 |
15599766 (1), 12642779 (1) |
| atherosclerosis |
22 |
1 |
17686643 (1) |
Human Genome Epidemiology (HuGE) Navigator: LDLRAP1 (6 documents) Export disorders for LDLRAP1 gene to outside databases
|
Publications for LDLRAP1 gene (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)
About This Section
|
PubMed articles for LDLRAP1 gene, integrated from 9 sources (see all 57): (articles sorted by number of sources associating them with LDLRAP1) | |  | Utopia: connect your pdf to the dynamic world of online information |
- Autosomal recessive hypercholesterolemia caused by mutations in a putative LDL receptor adaptor protein. (PubMed id 11326085)1, 2, 9 Garcia C.K.... Hobbs H.H. (2001)
- The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
- Functional dissection of an AP-2 beta2 appendage-binding sequence within the autosomal recessive hypercholesterolemia protein. (PubMed id 15728179)1, 2 Mishra S.K....Traub L.M. (2005)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- The autosomal recessive hypercholesterolemia (ARH) protein interfaces directly with the clathrin-coat machinery. (PubMed id 12451172)1, 2 Mishra S.K.... Traub L.M. (2002)
- ARH is a modular adaptor protein that interacts with the LDL receptor, clathrin, and AP-2. (PubMed id 12221107)1, 2 He G.... Cohen J.C. (2002)
- Molecular mechanisms of autosomal recessive hypercholesterolemia. (PubMed id 12417523)1, 2 Wilund K.R.... Cohen J.C. (2002)
- Adaptor protein ARH is recruited to the plasma membrane by low density lipoprotein (LDL) binding and modulates endocytosis of the LDL/LDL receptor complex in hepatocytes. (PubMed id 16129683)1, 9 Sirinian M.I....Arca M. (2005)
- Autosomal recessive hypercholesterolemia in Spanish kindred due to a large deletion in the ARH gene. (PubMed id 17686643)1, 9 Quagliarini F....Arca M. (2007)
- A novel ARH splice site mutation in a Mexican kindred with autosomal recessive hypercholesterolemia. (PubMed id 15599766)1, 9 Canizales-Quinteros S....Tusie-Luna M.T. (2005)
|
External Searches for LDLRAP1 gene
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing LDLRAP1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing LDLRAP1 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing LDLRAP1 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
|
| Name | Description |
| PharmGKB entry for LDLRAP1 | Pharmacogenomics, SNPs, Pathways | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/LDLRAP1 |
|
| | |
About This Section
| Patent Information for LDLRAP1 gene: Search GeneIP for patents involving LDLRAP1
GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products for LDLRAP1 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences, In Situ Hybridization Assays from Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory) About This Section
|
 | |
 | |
 |
| | | | OriGene Antibodies for LDLRAP1 | | OriGene shRNA RFP for LDLRAP1 | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for LDLRAP1 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for LDLRAP1 | | OriGene Protein Over-expression Lysate for LDLRAP1 | | Browse OriGene Fluorogenic Cell Assay Kits | | OriGene siRNA for LDLRAP1 | | OriGene 3'-UTR Clone for LDLRAP1 | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for LDLRAP1 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for LDLRAP1 | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | OriGene Purified Protein for LDLRAP1 | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | OriGene Custom Antibody Services for LDLRAP1 | | OriGene Custom Protein Services for LDLRAP1 | | OriGene Custom Immunoassay Development | | |
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| | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat LDLRAP1 | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing LDLRAP1 | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat LDLRAP1 | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat LDLRAP1 | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat LDLRAP1 | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat LDLRAP1 |
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| | | Search Tocris compounds for LDLRAP1 |
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 | | LDLRAP1 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LDLRAP1 |
|  |  |  |  | | | ThermoFisher Antibodies for LDLRAP1 |
| | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat LDLRAP1 |
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