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Mouse Anti-LDLRAP1 Recombinant Antibody (4B10) (CBMAB-L1018-YJ)


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Summary

Host Animal
Mouse
Specificity
Human
Clone
4B10
Antibody Isotype
IgG1
Application
FC, IHC, WB

Basic Information

Immunogen
LDLRAP1 antibody was raised in mouse using a full length recombinant protein of human LDLRAP1 (NP_056442) produced in HEK293T cells, as the immunogen.
Specificity
Human
Antibody Isotype
IgG1
Clonality
Monoclonal
Application Notes
The COA includes recommended starting dilutions, optimal dilutions should be determined by the end user.

Formulations & Storage [For reference only, actual COA shall prevail!]

Buffer
PBS, pH 7.3, 1% BSA, 50% Glycerol
Preservative
0.02% Sodium Azide
Storage
Store at 4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freeze/thaw cycles.

Target

Full Name
low density lipoprotein receptor adaptor protein 1
Introduction
LDLRAP1 is a cytosolic protein which contains a phosphotyrosine binding (PTD) domain. The PTD domain has been found to interact with the cytoplasmic tail of the LDL receptor. Mutations in this gene lead to LDL receptor malfunction and cause the disorder autosomal recessive hypercholesterolaemia. Diseases associated with LDLRAP1 include Hypercholesterolemia, Autosomal Recessive and Homozygous Familial Hypercholesterolemia. Among its related pathways are Lipoprotein metabolism and Metabolism. Gene Ontology (GO) annotations related to this gene include phosphatidylinositol-4,5-bisphosphate binding and amyloid-beta binding. An important paralog of this gene is NUMBL.Adapter protein (clathrin-associated sorting protein (CLASP)) required for efficient endocytosis of the LDL receptor (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 the endocytocis of LDLR and LDLR-LDL complexes from coated pits by stabilizing the interaction between the receptor and the structural components of the pits. May also be involved in the internalization of other LDLR family members. Binds to phosphoinositides, which regulate clathrin bud assembly at the cell surface. Required for trafficking of LRP2 to the endocytic recycling compartment which is necessary for LRP2 proteolysis, releasing a tail fragment which translocates to the nucleus and mediates transcriptional repression (By similarity).
Entrez Gene ID
26119
UniProt ID
Q5SW96
Alternative Names
ARH; ARH1; ARH2; FHCB1; FHCB2
Function
Adapter protein (clathrin-associated sorting protein (CLASP)) required for efficient endocytosis of the LDL receptor (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 the endocytosis of LDLR and LDLR-LDL complexes from coated pits by stabilizing the interaction between the receptor and the structural components of the pits. May also be involved in the internalization of other LDLR family members. Binds to phosphoinositides, which regulate clathrin bud assembly at the cell surface. Required for trafficking of LRP2 to the endocytic recycling compartment which is necessary for LRP2 proteolysis, releasing a tail fragment which translocates to the nucleus and mediates transcriptional repression (By similarity).
Biological Process
Amyloid precursor protein metabolic processManual Assertion Based On ExperimentIMP:BHF-UCL
Cellular response to cytokine stimulusManual Assertion Based On ExperimentIMP:BHF-UCL
Cholesterol homeostasisManual Assertion Based On ExperimentIMP:BHF-UCL
Cholesterol metabolic process1 PublicationNAS:UniProtKB
Cholesterol transport1 PublicationNAS:UniProtKB
Low-density lipoprotein particle clearanceManual Assertion Based On ExperimentIMP:BHF-UCL
Positive regulation of cholesterol metabolic process1 PublicationIC:BHF-UCL
Positive regulation of low-density lipoprotein particle clearanceManual Assertion Based On ExperimentIMP:BHF-UCL
Positive regulation of receptor-mediated endocytosisManual Assertion Based On ExperimentIMP:UniProtKB
Positive regulation of receptor-mediated endocytosis involved in cholesterol transportManual Assertion Based On ExperimentIMP:BHF-UCL
Positive regulation of vascular associated smooth muscle cell proliferationManual Assertion Based On ExperimentIMP:BHF-UCL
Receptor internalizationManual Assertion Based On ExperimentIMP:BHF-UCL
Receptor-mediated endocytosisManual Assertion Based On ExperimentIDA:BHF-UCL
Receptor-mediated endocytosis involved in cholesterol transportManual Assertion Based On ExperimentIMP:BHF-UCL
Regulation of protein bindingManual Assertion Based On ExperimentIMP:UniProtKB
Regulation of protein localization to plasma membraneManual Assertion Based On ExperimentIMP:BHF-UCL
Cellular Location
Cytoplasm
Involvement in disease
Hypercholesterolemia, familial, 4 (FHCL4):
A form of hypercholesterolemia, a disorder of lipoprotein metabolism characterized by elevated serum low-density lipoprotein (LDL) cholesterol levels, which result in excess deposition of cholesterol in tissues and leads to xanthelasma, xanthomas, accelerated atherosclerosis and increased risk of premature coronary heart disease. FHCL4 inheritance is autosomal recessive.
More Infomation

Leigh, T., Kawai, T., Preston, K., Kelemen, S., Okune, R., St Paul, A., ... & Autieri, M. V. (2022). Deletion of LDLRAP1 induces atherosclerotic plaque formation, insulin resistance, and dysregulated insulin response in adipose tissue. The American Journal of Pathology, 192(7), 1092-1108.

Feng, S., Zhao, X., Wang, Y., Wang, Y., Chen, G., & Zhang, S. (2022). Autosomal recessive hypercholesterolemia caused by a novel LDLRAP1 variant and membranous nephropathy in a Chinese girl: a case report. Frontiers in Cardiovascular Medicine, 9, 811317.

Nikasa, P., Rabbani, B., Hejazi, M. S., Firouzi, A., Baharvand, H., Totonchi, M., & Mahdieh, N. (2021). A case of autosomal recessive hypercholesterolemia with a novel mutation in the LDLRAP1 gene. Clinical Pediatric Endocrinology, 30(4), 201-204.

Shaik, N. A., Al‐Qahtani, F., Nasser, K., Jamil, K., Alrayes, N. M., Elango, R., ... & Banaganapalli, B. (2020). Molecular insights into the coding region mutations of low‐density lipoprotein receptor adaptor protein 1 (LDLRAP1) linked to familial hypercholesterolemia. The Journal of Gene Medicine, 22(6), e3176.

Hayat, M., Kerr, R., Bentley, A. R., Rotimi, C. N., Raal, F. J., & Ramsay, M. (2020). Genetic associations between serum low LDL-cholesterol levels and variants in LDLR, APOB, PCSK9 and LDLRAP1 in African populations. PLoS One, 15(2), e0229098.

Rodríguez-Jiménez, C., Gómez-Coronado, D., Vargas, M. F., Cerrato, F., Lahoz, C., Saban-Ruiz, J., ... & Rodríguez-Nóvoa, S. (2019). A new variant (c. 1A> G) in LDLRAP1 causing autosomal recessive hypercholesterolemia: Characterization of the defect and response to PCSK9 inhibition. Atherosclerosis, 284, 223-229.

Shakhtshneider, E., Ivanoshchuk, D., Orlov, P., Timoshchenko, O., & Voevoda, M. (2019). Analysis of the LDLR, APOB, PCSK9 and LDLRAP1 genes variability in patients with familial hypercholesterolemia in West Siberia using targeted high throughput resequencing. Atherosclerosis, 287, e285.

Lang, C., Karunairetnam, S., Lo, K. R., Kralicek, A. V., Crowhurst, R. N., Gleave, A. P., ... & Ingram, J. R. (2019). Common variants of the plant microRNA-168a exhibit differing silencing efficacy for human low-density lipoprotein receptor adaptor protein 1 (LDLRAP1). MicroRNA, 8(2), 166-170.

Alnouri, F., Athar, M., Al-Allaf, F. A., Abduljaleel, Z., Taher, M. M., Bouazzaoui, A., ... & Albabtain, M. (2018). Novel combined variants of LDLR and LDLRAP1 genes causing severe familial hypercholesterolemia. Atherosclerosis, 277, 425-433.

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For research use only. Not intended for any clinical use.

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