Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
26119
Gene name Gene Name - the full gene name approved by the HGNC.
Low density lipoprotein receptor adaptor protein 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
LDLRAP1
Synonyms (NCBI Gene) Gene synonyms aliases
ARH, ARH1, ARH2, FHCB1, FHCB2, FHCL4
Disease Acronyms (UniProt) Disease acronyms from UniProt database
FHCL4
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p36.11
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene 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
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs41291058 C>T Benign, conflicting-interpretations-of-pathogenicity, likely-benign Coding sequence variant, intron variant, missense variant, non coding transcript variant
rs114583297 C>T Conflicting-interpretations-of-pathogenicity, benign Non coding transcript variant, missense variant, intron variant, coding sequence variant
rs121908324 G>A,C,T Pathogenic Missense variant, stop gained, coding sequence variant, upstream transcript variant, genic upstream transcript variant, non coding transcript variant
rs121908325 C>T Pathogenic Stop gained, non coding transcript variant, coding sequence variant
rs121908326 C>A,G Conflicting-interpretations-of-pathogenicity, uncertain-significance Non coding transcript variant, missense variant, intron variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT004928 hsa-miR-124-3p Microarray 15685193
MIRT021470 hsa-miR-9-5p Microarray 17612493
MIRT004928 hsa-miR-124-3p Microarray 15685193
MIRT004928 hsa-miR-124-3p Microarray 18668037
MIRT049748 hsa-miR-92a-3p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001540 Function Amyloid-beta binding IPI 12805363
GO:0001784 Function Phosphotyrosine residue binding IDA 12451172
GO:0005515 Function Protein binding IPI 12221107, 16189514, 25416956, 25910212, 27107012, 28514442, 32296183
GO:0005546 Function Phosphatidylinositol-4,5-bisphosphate binding IDA 12451172
GO:0005769 Component Early endosome IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
605747 18640 ENSG00000157978
Protein
UniProt ID Q5SW96
Protein name Low density lipoprotein receptor adapter protein 1 (Autosomal recessive hypercholesterolemia protein)
Protein 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
PDB 2G30
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF14719 PID_2 47 222 Phosphotyrosine interaction domain (PTB/PID) Domain
Tissue specificity TISSUE 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.
Sequence
MDALKSAGRALIRSPSLAKQSWGGGGRHRKLPENWTDTRETLLEGMLFSLKYLGMTLVEQ
PKGEELSAAAIKRIVATAKASGKKLQKVTLKVSPRGIILTDNLTNQLIENVSIYRISYCT
ADKMHDKVFAYIAQSQHNQSLECHAFLCTKRKMAQAVTLTVAQAFKVAFEFWQVSKEEKE
KRDKASQEGGDVLGARQDCTPSLKSLVATGNLLDLEETAKAP
LSTVSANTTNMDEVPRPQ
ALSGSSVVWELDDGLDEAFSRLAQSRTNPQVLDTGLTAQDMHYAQCLSPVDWDKPDSSGT
EQDDLFSF
Sequence length 308
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Endocytosis
Cholesterol metabolism
  Cargo recognition for clathrin-mediated endocytosis
Clathrin-mediated endocytosis
Chylomicron clearance
LDL clearance
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Hypercholesterolemia Hypercholesterolemia, Hypercholesterolemia, Familial, Familial hypercholesterolemia - homozygous, HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE rs28942111, rs28942112, rs137852912, rs121908025, rs28942082, rs28942083, rs121908028, rs121908030, rs28942079, rs28942084, rs121908032, rs387906302, rs387906303, rs121908033, rs121908034
View all (1161 more)
12417523, 11326085, 12788851, 21872251, 12464675, 15485476, 29245109, 27247956, 22157599, 12016260
Hyperlipidemia Hyperlipidemia rs118204057, rs118204060, rs118204062, rs1563569634, rs118204069, rs118204070, rs118204071, rs1566946168, rs1064797075
Hypertension Hypertensive disease rs13306026
Supravalvar aortic stenosis Supravalvular aortic stenosis rs137854452, rs137854453, rs2132322943, rs1563826213, rs137854454, rs137854455, rs1554686162, rs397516433, rs727503783, rs727503782, rs727503022, rs727503023, rs727503024, rs727503026, rs727503027
View all (38 more)
Unknown
Disease term Disease name Evidence References Source
Atherosclerosis Atherosclerosis ClinVar
Myocardial infarction Myocardial Infarction ClinVar
Homozygous Hypercholesterolemia homozygous familial hypercholesterolemia GenCC
Associations from Text Mining
Disease Name Relationship Type References
Acute Kidney Injury Associate 33863396
Alzheimer Disease Associate 12805363
Cardiovascular Diseases Associate 32084179
Coronary Artery Disease Associate 37848354
Diabetes Mellitus Associate 20124734
Epileptic Syndromes Associate 23054246, 36499307
general anxiety disorder Associate 36344488
Head and Neck Neoplasms Associate 22986368
Hypercholesterolemia Associate 16129683, 20124734, 37848354
Hyperlipoproteinemia Type II Associate 20124734, 26415676, 28958330, 29561990, 29720182, 30269829, 30593551, 30637778, 30971288, 32878475, 34011801, 34425670, 35052492, 36648309, 37217153
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