KEGG T01001: 3949

Homo sapiens (human): 3949

Entry

3949 CDS T01001

Gene name

LDLR, FH, FHC, LDLCQ2

Definition

low density lipoprotein receptor

Orthology

K12473

low-density lipoprotein receptor

Organism

hsa Homo sapiens (human)

Pathway

hsa04144	Endocytosis
hsa04913	Ovarian steroidogenesis
hsa04976	Bile secretion
hsa05145	Toxoplasmosis
hsa05160	Hepatitis C

Disease

H00155

Hypercholesterolemia

Class

Cellular Processes; Transport and catabolism; Endocytosis [PATH:hsa04144]
Organismal Systems; Endocrine system; Ovarian Steroidogenesis [PATH:hsa04913]
Organismal Systems; Digestive system; Bile secretion [PATH:hsa04976]
Human Diseases; Infectious diseases; Hepatitis C [PATH:hsa05160]
Human Diseases; Infectious diseases; Toxoplasmosis [PATH:hsa05145]

SSDB

Motif

Pfam:

Ldl_recept_a Ldl_recept_b FXa_inhibition cEGF EGF_CA SGL EGF DUF4519

Other DBs

NCBI-GI:

NCBI-GeneID:

OMIM:

HGNC:

HPRD:

Ensembl:

Vega:

UniProt:

Structure

PDB:

2FCW 1IJQ 1AJJ 2W2N 2W2Q 2W2M 3BPS 2W2O 2W2P 3GCW 3GCX 3P5B 1N7D 3P5C 3M0C 2LGP 2KRI 1XFE 1I0U 1HZ8 1HJ7 1F5Y 1D2J 1LDR 1LDL

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

All links

Ontology (1)   
   KEGG BRITE (1)   
Pathway (5)   
   KEGG PATHWAY (5)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Drug (3)   
   KEGG DRUG (3)   
Genome (1)   
   KEGG GENOME (1)   
Gene (22)   
   KEGG ORTHOLOGY (1)   
   NCBI-Gene (1)   
   NCBI-GI (13)   
   UniGene (2)   
   HGNC (1)   
   HPRD (1)   
   ENSEMBL-HSA (1)   
   OC (1)   
   VEGA (1)   
Protein sequence (9)   
   UniProt (3)   
   RefSeq(pep) (6)   
DNA sequence (42)   
   RefSeq(nuc) (6)   
   GenBank (18)   
   EMBL (18)   
3D Structure (25)   
   PDB (25)   
Protein domain (8)   
   Pfam (8)   
All databases (119)   

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