KEGG   Homo sapiens (human): 3949
Entry
3949              CDS       T01001                                 

Gene name
LDLR, FH, FHC, FHCL1, LDLCQ2
Definition
(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
Network
nt06320  APOB-LDLR signaling
  Element
N00332  Vesicular uptake of lipoproteins
N00333  Mutation-caused aberrant APOB to vesicular uptake of lipoproteins
N00334  Mutation-inactivated LDLR to vesicular uptake of lipoproteins
N00335  Mutation-inactivated LDLRAP1 to vesicular uptake of lipoproteins
N00336  PCSK9-mediated LDLR degradation
N00337  Mutation-activated PCSK9 to PCSK9-mediated LDLR degradation
Disease
H00155  Familial hypercholesterolemia
H01383  Hyperlipoproteinemia type IIa
H01635  Hyperlipidemia
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)
  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)
SSDB
Motif
Pfam: Ldl_recept_a Ldl_recept_b FXa_inhibition cEGF EGF_CA SGL EGF hEGF
Other DBs
NCBI-GeneID: 3949
NCBI-ProteinID: NP_000518
OMIM: 606945
HGNC: 6547
Ensembl: ENSG00000130164
Vega: OTTHUMG00000171935
Pharos: P01130(Tchem)
UniProt: P01130 A0A024R7D5
Structure
PDB: 

Position
19p13.2
AA seq 860 aa
MGPWGWKLRWTVALLLAAAGTAVGDRCERNEFQCQDGKCISYKWVCDGSAECQDGSDESQ
ETCLSVTCKSGDFSCGGRVNRCIPQFWRCDGQVDCDNGSDEQGCPPKTCSQDEFRCHDGK
CISRQFVCDSDRDCLDGSDEASCPVLTCGPASFQCNSSTCIPQLWACDNDPDCEDGSDEW
PQRCRGLYVFQGDSSPCSAFEFHCLSGECIHSSWRCDGGPDCKDKSDEENCAVATCRPDE
FQCSDGNCIHGSRQCDREYDCKDMSDEVGCVNVTLCEGPNKFKCHSGECITLDKVCNMAR
DCRDWSDEPIKECGTNECLDNNGGCSHVCNDLKIGYECLCPDGFQLVAQRRCEDIDECQD
PDTCSQLCVNLEGGYKCQCEEGFQLDPHTKACKAVGSIAYLFFTNRHEVRKMTLDRSEYT
SLIPNLRNVVALDTEVASNRIYWSDLSQRMICSTQLDRAHGVSSYDTVISRDIQAPDGLA
VDWIHSNIYWTDSVLGTVSVADTKGVKRKTLFRENGSKPRAIVVDPVHGFMYWTDWGTPA
KIKKGGLNGVDIYSLVTENIQWPNGITLDLLSGRLYWVDSKLHSISSIDVNGGNRKTILE
DEKRLAHPFSLAVFEDKVFWTDIINEAIFSANRLTGSDVNLLAENLLSPEDMVLFHNLTQ
PRGVNWCERTTLSNGGCQYLCLPAPQINPHSPKFTCACPDGMLLARDMRSCLTEAEAAVA
TQETSTVRLKVSSTAVRTQHTTTRPVPDTSRLPGATPGLTTVEIVTMSHQALGDVAGRGN
EKKPSSVRALSIVLPIVLLVFLCLGVFLLWKNWRLKNINSINFDNPVYQKTTEDEVHICH
NQDGYSYPSRQMVSLEDDVA
NT seq 2583 nt   +upstreamnt  +downstreamnt
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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Ontology (2)   
   KEGG BRITE (2)   
Pathway (9)   
   KEGG PATHWAY (9)   
Network (6)   
   KEGG NETWORK (6)   
Disease (5)   
   KEGG DISEASE (3)   
   OMIM (2)   
Genome (1)   
   KEGG GENOME (1)   
Gene (41)   
   KEGG ORTHOLOGY (1)   
   RefGene (32)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (1)   
   OC (1)   
   PHAROS (1)   
   VEGA (1)   
Protein sequence (9)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (6)   
DNA sequence (45)   
   RefSeq(nuc) (9)   
   GenBank (18)   
   EMBL (18)   
Protein domain (8)   
   Pfam (8)   
All databases (126)   

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