Homo sapiens (human): 3949
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Entry
3949 CDS
T01001
Symbol
LDLR, FH, FHC, FHCL1, LDLCQ2
Name
(RefSeq) low density lipoprotein receptor
KO
K12473
low-density lipoprotein receptor
Organism
hsa
Homo sapiens (human)
Pathway
hsa04144
Endocytosis
hsa04913
Ovarian steroidogenesis
hsa04925
Aldosterone synthesis and secretion
hsa04927
Cortisol synthesis and secretion
hsa04934
Cushing syndrome
hsa04976
Bile secretion
hsa04979
Cholesterol metabolism
hsa05145
Toxoplasmosis
hsa05160
Hepatitis C
hsa05417
Lipid and atherosclerosis
Network
nt06320
APOB-LDLR signaling
Element
N00332
Vesicular uptake of lipoproteins
N00336
PCSK9-mediated LDLR degradation
Disease
H00155
Familial hypercholesterolemia
H01383
Hyperlipoproteinemia type IIa
H01635
Hyperlipidemia
H02505
Atherosclerosis
Brite
KEGG Orthology (KO) [BR:
hsa00001
]
09140 Cellular Processes
09141 Transport and catabolism
04144 Endocytosis
3949 (LDLR)
09150 Organismal Systems
09152 Endocrine system
04913 Ovarian steroidogenesis
3949 (LDLR)
04925 Aldosterone synthesis and secretion
3949 (LDLR)
04927 Cortisol synthesis and secretion
3949 (LDLR)
09154 Digestive system
04976 Bile secretion
3949 (LDLR)
04979 Cholesterol metabolism
3949 (LDLR)
09160 Human Diseases
09172 Infectious disease: viral
05160 Hepatitis C
3949 (LDLR)
09174 Infectious disease: parasitic
05145 Toxoplasmosis
3949 (LDLR)
09166 Cardiovascular disease
05417 Lipid and atherosclerosis
3949 (LDLR)
09167 Endocrine and metabolic disease
04934 Cushing syndrome
3949 (LDLR)
09180 Brite Hierarchies
09182 Protein families: genetic information processing
04131 Membrane trafficking [BR:
hsa04131
]
3949 (LDLR)
Membrane trafficking [BR:
hsa04131
]
Endocytosis
Clathrin-mediated endocytosis
Low-density lipoprotein receptor (LDLR) family proteins
3949 (LDLR)
BRITE hierarchy
SSDB
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
Ldl_recept_a
Ldl_recept_b
FXa_inhibition
cEGF
EGF_CA
SGL
EGF
hEGF
Gag_p24
Motif
Other DBs
NCBI-GeneID:
3949
NCBI-ProteinID:
NP_000518
OMIM:
606945
HGNC:
6547
Ensembl:
ENSG00000130164
UniProt:
P01130
A0A024R7D5
Structure
PDB
LinkDB
All DBs
Position
19:11089463..11133820
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AA seq
860 aa
AA seq
DB search
MGPWGWKLRWTVALLLAAAGTAVGDRCERNEFQCQDGKCISYKWVCDGSAECQDGSDESQ
ETCLSVTCKSGDFSCGGRVNRCIPQFWRCDGQVDCDNGSDEQGCPPKTCSQDEFRCHDGK
CISRQFVCDSDRDCLDGSDEASCPVLTCGPASFQCNSSTCIPQLWACDNDPDCEDGSDEW
PQRCRGLYVFQGDSSPCSAFEFHCLSGECIHSSWRCDGGPDCKDKSDEENCAVATCRPDE
FQCSDGNCIHGSRQCDREYDCKDMSDEVGCVNVTLCEGPNKFKCHSGECITLDKVCNMAR
DCRDWSDEPIKECGTNECLDNNGGCSHVCNDLKIGYECLCPDGFQLVAQRRCEDIDECQD
PDTCSQLCVNLEGGYKCQCEEGFQLDPHTKACKAVGSIAYLFFTNRHEVRKMTLDRSEYT
SLIPNLRNVVALDTEVASNRIYWSDLSQRMICSTQLDRAHGVSSYDTVISRDIQAPDGLA
VDWIHSNIYWTDSVLGTVSVADTKGVKRKTLFRENGSKPRAIVVDPVHGFMYWTDWGTPA
KIKKGGLNGVDIYSLVTENIQWPNGITLDLLSGRLYWVDSKLHSISSIDVNGGNRKTILE
DEKRLAHPFSLAVFEDKVFWTDIINEAIFSANRLTGSDVNLLAENLLSPEDMVLFHNLTQ
PRGVNWCERTTLSNGGCQYLCLPAPQINPHSPKFTCACPDGMLLARDMRSCLTEAEAAVA
TQETSTVRLKVSSTAVRTQHTTTRPVPDTSRLPGATPGLTTVEIVTMSHQALGDVAGRGN
EKKPSSVRALSIVLPIVLLVFLCLGVFLLWKNWRLKNINSINFDNPVYQKTTEDEVHICH
NQDGYSYPSRQMVSLEDDVA
NT seq
2583 nt
NT seq
+upstream
nt +downstream
nt
atggggccctggggctggaaattgcgctggaccgtcgccttgctcctcgccgcggcgggg
actgcagtgggcgacagatgcgaaagaaacgagttccagtgccaagacgggaaatgcatc
tcctacaagtgggtctgcgatggcagcgctgagtgccaggatggctctgatgagtcccag
gagacgtgcttgtctgtcacctgcaaatccggggacttcagctgtgggggccgtgtcaac
cgctgcattcctcagttctggaggtgcgatggccaagtggactgcgacaacggctcagac
gagcaaggctgtccccccaagacgtgctcccaggacgagtttcgctgccacgatgggaag
tgcatctctcggcagttcgtctgtgactcagaccgggactgcttggacggctcagacgag
gcctcctgcccggtgctcacctgtggtcccgccagcttccagtgcaacagctccacctgc
atcccccagctgtgggcctgcgacaacgaccccgactgcgaagatggctcggatgagtgg
ccgcagcgctgtaggggtctttacgtgttccaaggggacagtagcccctgctcggccttc
gagttccactgcctaagtggcgagtgcatccactccagctggcgctgtgatggtggcccc
gactgcaaggacaaatctgacgaggaaaactgcgctgtggccacctgtcgccctgacgaa
ttccagtgctctgatggaaactgcatccatggcagccggcagtgtgaccgggaatatgac
tgcaaggacatgagcgatgaagttggctgcgttaatgtgacactctgcgagggacccaac
aagttcaagtgtcacagcggcgaatgcatcaccctggacaaagtctgcaacatggctaga
gactgccgggactggtcagatgaacccatcaaagagtgcgggaccaacgaatgcttggac
aacaacggcggctgttcccacgtctgcaatgaccttaagatcggctacgagtgcctgtgc
cccgacggcttccagctggtggcccagcgaagatgcgaagatatcgatgagtgtcaggat
cccgacacctgcagccagctctgcgtgaacctggagggtggctacaagtgccagtgtgag
gaaggcttccagctggacccccacacgaaggcctgcaaggctgtgggctccatcgcctac
ctcttcttcaccaaccggcacgaggtcaggaagatgacgctggaccggagcgagtacacc
agcctcatccccaacctgaggaacgtggtcgctctggacacggaggtggccagcaataga
atctactggtctgacctgtcccagagaatgatctgcagcacccagcttgacagagcccac
ggcgtctcttcctatgacaccgtcatcagcagagacatccaggcccccgacgggctggct
gtggactggatccacagcaacatctactggaccgactctgtcctgggcactgtctctgtt
gcggataccaagggcgtgaagaggaaaacgttattcagggagaacggctccaagccaagg
gccatcgtggtggatcctgttcatggcttcatgtactggactgactggggaactcccgcc
aagatcaagaaagggggcctgaatggtgtggacatctactcgctggtgactgaaaacatt
cagtggcccaatggcatcaccctagatctcctcagtggccgcctctactgggttgactcc
aaacttcactccatctcaagcatcgatgtcaacgggggcaaccggaagaccatcttggag
gatgaaaagaggctggcccaccccttctccttggccgtctttgaggacaaagtattttgg
acagatatcatcaacgaagccattttcagtgccaaccgcctcacaggttccgatgtcaac
ttgttggctgaaaacctactgtccccagaggatatggttctcttccacaacctcacccag
ccaagaggagtgaactggtgtgagaggaccaccctgagcaatggcggctgccagtatctg
tgcctccctgccccgcagatcaacccccactcgcccaagtttacctgcgcctgcccggac
ggcatgctgctggccagggacatgaggagctgcctcacagaggctgaggctgcagtggcc
acccaggagacatccaccgtcaggctaaaggtcagctccacagccgtaaggacacagcac
acaaccacccgacctgttcccgacacctcccggctgcctggggccacccctgggctcacc
acggtggagatagtgacaatgtctcaccaagctctgggcgacgttgctggcagaggaaat
gagaagaagcccagtagcgtgagggctctgtccattgtcctccccatcgtgctcctcgtc
ttcctttgcctgggggtcttccttctatggaagaactggcggcttaagaacatcaacagc
atcaactttgacaaccccgtctatcagaagaccacagaggatgaggtccacatttgccac
aaccaggacggctacagctacccctcgagacagatggtcagtctggaggatgacgtggcg
tga
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