KEGG   Homo sapiens (human): 4041Help
Entry
4041              CDS       T01001                                 

Gene name
LRP5, BMND1, EVR1, EVR4, HBM, LR3, LRP7, OPPG, OPS, OPTA1, VBCH2
Definition
low density lipoprotein receptor-related protein 5
Orthology
K03068  
low density lipoprotein receptor-related protein 5/6
Organism
hsa  Homo sapiens (human)
Pathway
Wnt signaling pathway
Disease
H00436  
Osteopetrosis
H00450  
Sclerosing bone dysplasias
H00451  
Osteoporosis-pseudoglioma syndrome (OPPG)
H00589  
Familial exudative vitreoretinopathy (FEVR)
Class
Environmental Information Processing; Signal transduction; Wnt signaling pathway [PATH:hsa04310]
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif Motif
Other DBs
NCBI-GI: 
NCBI-GeneID: 
OMIM: 
HGNC: 
HPRD: 
Ensembl: 
Vega: 
UniProt: 
LinkDB All DBs
Position
11q13.4
AA seq 1615 aa AA seqDB search
MEAAPPGPPWPLLLLLLLLLALCGCPAPAAASPLLLFANRRDVRLVDAGGVKLESTIVVS
GLEDAAAVDFQFSKGAVYWTDVSEEAIKQTYLNQTGAAVQNVVISGLVSPDGLACDWVGK
KLYWTDSETNRIEVANLNGTSRKVLFWQDLDQPRAIALDPAHGYMYWTDWGETPRIERAG
MDGSTRKIIVDSDIYWPNGLTIDLEEQKLYWADAKLSFIHRANLDGSFRQKVVEGSLTHP
FALTLSGDTLYWTDWQTRSIHACNKRTGGKRKEILSALYSPMDIQVLSQERQPFFHTRCE
EDNGGCSHLCLLSPSEPFYTCACPTGVQLQDNGRTCKAGAEEVLLLARRTDLRRISLDTP
DFTDIVLQVDDIRHAIAIDYDPLEGYVYWTDDEVRAIRRAYLDGSGAQTLVNTEINDPDG
IAVDWVARNLYWTDTGTDRIEVTRLNGTSRKILVSEDLDEPRAIALHPVMGLMYWTDWGE
NPKIECANLDGQERRVLVNASLGWPNGLALDLQEGKLYWGDAKTDKIEVINVDGTKRRTL
LEDKLPHIFGFTLLGDFIYWTDWQRRSIERVHKVKASRDVIIDQLPDLMGLKAVNVAKVV
GTNPCADRNGGCSHLCFFTPHATRCGCPIGLELLSDMKTCIVPEAFLVFTSRAAIHRISL
ETNNNDVAIPLTGVKEASALDFDVSNNHIYWTDVSLKTISRAFMNGSSVEHVVEFGLDYP
EGMAVDWMGKNLYWADTGTNRIEVARLDGQFRQVLVWRDLDNPRSLALDPTKGYIYWTEW
GGKPRIVRAFMDGTNCMTLVDKVGRANDLTIDYADQRLYWTDLDTNMIESSNMLGQERVV
IADDLPHPFGLTQYSDYIYWTDWNLHSIERADKTSGRNRTLIQGHLDFVMDILVFHSSRQ
DGLNDCMHNNGQCGQLCLAIPGGHRCGCASHYTLDPSSRNCSPPTTFLLFSQKSAISRMI
PDDQHSPDLILPLHGLRNVKAIDYDPLDKFIYWVDGRQNIKRAKDDGTQPFVLTSLSQGQ
NPDRQPHDLSIDIYSRTLFWTCEATNTINVHRLSGEAMGVVLRGDRDKPRAIVVNAERGY
LYFTNMQDRAAKIERAALDGTEREVLFTTGLIRPVALVVDNTLGKLFWVDADLKRIESCD
LSGANRLTLEDANIVQPLGLTILGKHLYWIDRQQQMIERVEKTTGDKRTRIQGRVAHLTG
IHAVEEVSLEEFSAHPCARDNGGCSHICIAKGDGTPRCSCPVHLVLLQNLLTCGEPPTCS
PDQFACATGEIDCIPGAWRCDGFPECDDQSDEEGCPVCSAAQFPCARGQCVDLRLRCDGE
ADCQDRSDEADCDAICLPNQFRCASGQCVLIKQQCDSFPDCIDGSDELMCEITKPPSDDS
PAHSSAIGPVIGIILSLFVMGGVYFVCQRVVCQRYAGANGPFPHEYVSGTPHVPLNFIAP
GGSQHGPFTGIACGKSMMSSVSLMGGRGGVPLYDRNHVTGASSSSSSSTKATLYPPILNP
PPSPATDPSLYNMDMFYSSNIPATARPYRPYIIRGMAPPTTPCSTDVCDSDYSASRWKAS
KYYLDLNSDSDPYPPPPTPHSQYLSAEDSCPPSPATERSYFHLFPPPPSPCTDSS
NT seq 4848 nt NT seq  +upstreamnt  +downstreamnt
atggaggcagcgccgcccgggccgccgtggccgctgctgctgctgctgctgctgctgctg
gcgctgtgcggctgcccggcccccgccgcggcctcgccgctcctgctatttgccaaccgc
cgggacgtacggctggtggacgccggcggagtcaagctggagtccaccatcgtggtcagc
ggcctggaggatgcggccgcagtggacttccagttttccaagggagccgtgtactggaca
gacgtgagcgaggaggccatcaagcagacctacctgaaccagacgggggccgccgtgcag
aacgtggtcatctccggcctggtctctcccgacggcctcgcctgcgactgggtgggcaag
aagctgtactggacggactcagagaccaaccgcatcgaggtggccaacctcaatggcaca
tcccggaaggtgctcttctggcaggaccttgaccagccgagggccatcgccttggacccc
gctcacgggtacatgtactggacagactggggtgagacgccccggattgagcgggcaggg
atggatggcagcacccggaagatcattgtggactcggacatttactggcccaatggactg
accatcgacctggaggagcagaagctctactgggctgacgccaagctcagcttcatccac
cgtgccaacctggacggctcgttccggcagaaggtggtggagggcagcctgacgcacccc
ttcgccctgacgctctccggggacactctgtactggacagactggcagacccgctccatc
catgcctgcaacaagcgcactggggggaagaggaaggagatcctgagtgccctctactca
cccatggacatccaggtgctgagccaggagcggcagcctttcttccacactcgctgtgag
gaggacaatggcggctgctcccacctgtgcctgctgtccccaagcgagcctttctacaca
tgcgcctgccccacgggtgtgcagctgcaggacaacggcaggacgtgtaaggcaggagcc
gaggaggtgctgctgctggcccggcggacggacctacggaggatctcgctggacacgccg
gacttcaccgacatcgtgctgcaggtggacgacatccggcacgccattgccatcgactac
gacccgctagagggctatgtctactggacagatgacgaggtgcgggccatccgcagggcg
tacctggacgggtctggggcgcagacgctggtcaacaccgagatcaacgaccccgatggc
atcgcggtcgactgggtggcccgaaacctctactggaccgacacgggcacggaccgcatc
gaggtgacgcgcctcaacggcacctcccgcaagatcctggtgtcggaggacctggacgag
ccccgagccatcgcactgcaccccgtgatgggcctcatgtactggacagactggggagag
aaccctaaaatcgagtgtgccaacttggatgggcaggagcggcgtgtgctggtcaatgcc
tccctcgggtggcccaacggcctggccctggacctgcaggaggggaagctctactgggga
gacgccaagacagacaagatcgaggtgatcaatgttgatgggacgaagaggcggaccctc
ctggaggacaagctcccgcacatttttgggttcacgctgctgggggacttcatctactgg
actgactggcagcgccgcagcatcgagcgggtgcacaaggtcaaggccagccgggacgtc
atcattgaccagctgcccgacctgatggggctcaaagctgtgaatgtggccaaggtcgtc
ggaaccaacccgtgtgcggacaggaacggggggtgcagccacctgtgcttcttcacaccc
cacgcaacccggtgtggctgccccatcggcctggagctgctgagtgacatgaagacctgc
atcgtgcctgaggccttcttggtcttcaccagcagagccgccatccacaggatctccctc
gagaccaataacaacgacgtggccatcccgctcacgggcgtcaaggaggcctcagccctg
gactttgatgtgtccaacaaccacatctactggacagacgtcagcctgaagaccatcagc
cgcgccttcatgaacgggagctcggtggagcacgtggtggagtttggccttgactacccc
gagggcatggccgttgactggatgggcaagaacctctactgggccgacactgggaccaac
agaatcgaagtggcgcggctggacgggcagttccggcaagtcctcgtgtggagggacttg
gacaacccgaggtcgctggccctggatcccaccaagggctacatctactggaccgagtgg
ggcggcaagccgaggatcgtgcgggccttcatggacgggaccaactgcatgacgctggtg
gacaaggtgggccgggccaacgacctcaccattgactacgctgaccagcgcctctactgg
accgacctggacaccaacatgatcgagtcgtccaacatgctgggtcaggagcgggtcgtg
attgccgacgatctcccgcacccgttcggtctgacgcagtacagcgattatatctactgg
acagactggaatctgcacagcattgagcgggccgacaagactagcggccggaaccgcacc
ctcatccagggccacctggacttcgtgatggacatcctggtgttccactcctcccgccag
gatggcctcaatgactgtatgcacaacaacgggcagtgtgggcagctgtgccttgccatc
cccggcggccaccgctgcggctgcgcctcacactacaccctggaccccagcagccgcaac
tgcagcccgcccaccaccttcttgctgttcagccagaaatctgccatcagtcggatgatc
ccggacgaccagcacagcccggatctcatcctgcccctgcatggactgaggaacgtcaaa
gccatcgactatgacccactggacaagttcatctactgggtggatgggcgccagaacatc
aagcgagccaaggacgacgggacccagccctttgttttgacctctctgagccaaggccaa
aacccagacaggcagccccacgacctcagcatcgacatctacagccggacactgttctgg
acgtgcgaggccaccaataccatcaacgtccacaggctgagcggggaagccatgggggtg
gtgctgcgtggggaccgcgacaagcccagggccatcgtcgtcaacgcggagcgagggtac
ctgtacttcaccaacatgcaggaccgggcagccaagatcgaacgcgcagccctggacggc
accgagcgcgaggtcctcttcaccaccggcctcatccgccctgtggccctggtggtggac
aacacactgggcaagctgttctgggtggacgcggacctgaagcgcattgagagctgtgac
ctgtcaggggccaaccgcctgaccctggaggacgccaacatcgtgcagcctctgggcctg
accatccttggcaagcatctctactggatcgaccgccagcagcagatgatcgagcgtgtg
gagaagaccaccggggacaagcggactcgcatccagggccgtgtcgcccacctcactggc
atccatgcagtggaggaagtcagcctggaggagttctcagcccacccatgtgcccgtgac
aatggtggctgctcccacatctgtattgccaagggtgatgggacaccacggtgctcatgc
ccagtccacctcgtgctcctgcagaacctgctgacctgtggagagccgcccacctgctcc
ccggaccagtttgcatgtgccacaggggagatcgactgtatccccggggcctggcgctgt
gacggctttcccgagtgcgatgaccagagcgacgaggagggctgccccgtgtgctccgcc
gcccagttcccctgcgcgcggggtcagtgtgtggacctgcgcctgcgctgcgacggcgag
gcagactgtcaggaccgctcagacgaggcggactgtgacgccatctgcctgcccaaccag
ttccggtgtgcgagcggccagtgtgtcctcatcaaacagcagtgcgactccttccccgac
tgtatcgacggctccgacgagctcatgtgtgaaatcaccaagccgccctcagacgacagc
ccggcccacagcagtgccatcgggcccgtcattggcatcatcctctctctcttcgtcatg
ggtggtgtctattttgtgtgccagcgcgtggtgtgccagcgctatgcgggggccaacggg
cccttcccgcacgagtatgtcagcgggaccccgcacgtgcccctcaatttcatagccccg
ggcggttcccagcatggccccttcacaggcatcgcatgcggaaagtccatgatgagctcc
gtgagcctgatggggggccggggcggggtgcccctctacgaccggaaccacgtcacaggg
gcctcgtccagcagctcgtccagcacgaaggccacgctgtacccgccgatcctgaacccg
ccgccctccccggccacggacccctccctgtacaacatggacatgttctactcttcaaac
attccggccactgcgagaccgtacaggccctacatcattcgaggaatggcgcccccgacg
acgccctgcagcaccgacgtgtgtgacagcgactacagcgccagccgctggaaggccagc
aagtactacctggatttgaactcggactcagacccctatccacccccacccacgccccac
agccagtacctgtcggcggaggacagctgcccgccctcgcccgccaccgagaggagctac
ttccatctcttcccgccccctccgtccccctgcacggactcatcctga

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