LDLRAP1 (low density lipoprotein receptor adaptor protein 1)

2016-10-01  

Identity

HGNC
LDLRAP1
LOCATION
1p36.11
LOCUSID
26119
ALIAS
ARH,ARH1,ARH2,FHCB1,FHCB2,FHCL4
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 26119
MIM: 605747
HGNC: 18640
Ensembl: ENSG00000157978

Variants:

dbSNP: 26119
ClinVar: 26119
TCGA: ENSG00000157978
COSMIC: LDLRAP1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000157978ENST00000374338Q5SW96

Expression (GTEx)

0
50
100
150
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
EndocytosisKEGGko04144
EndocytosisKEGGhsa04144
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Lipid digestion, mobilization, and transportREACTOMER-HSA-73923
Lipoprotein metabolismREACTOMER-HSA-174824
Chylomicron-mediated lipid transportREACTOMER-HSA-174800
LDL-mediated lipid transportREACTOMER-HSA-171052
Clathrin-mediated endocytosisREACTOMER-HSA-8856828
Cargo recognition for clathrin-mediated endocytosisREACTOMER-HSA-8856825

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
168707012006A single common portal for clathrin-mediated endocytosis of distinct cargo governed by cargo-selective adaptors.71
169849702006The adaptor protein Dab2 sorts LDL receptors into coated pits independently of AP-2 and ARH.71
122211072002ARH is a modular adaptor protein that interacts with the LDL receptor, clathrin, and AP-2.70
124511722002The autosomal recessive hypercholesterolemia (ARH) protein interfaces directly with the clathrin-coat machinery.56
157281792005Functional dissection of an AP-2 beta2 appendage-binding sequence within the autosomal recessive hypercholesterolemia protein.34
198415412009The ARH adaptor protein regulates endocytosis of the ROMK potassium secretory channel in mouse kidney.32
145280142003The adaptor protein ARH escorts megalin to and through endosomes.28
202374962010New genetic associations detected in a host response study to hepatitis B vaccine.27
184176162008The endocytic adaptor protein ARH associates with motor and centrosomal proteins and is involved in centrosome assembly and cytokinesis.24

Citation

Dessen P

LDLRAP1 (low density lipoprotein receptor adaptor protein 1)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56131/ldlrap1