Showing Protein Low-density lipoprotein receptor-related protein 5 (HMDBP07786)

• 13495

1. LRP-5

1. Membrane
2. Single-pass type I membrane protein
3. Endoplasmic reticulum

>4848 bp
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
CTGGAGGACAAGCTCCCGCACATTTTCGGGTTCACGCTGCTGGGGGACTTCATCTACTGG
ACTGACTGGCAGCGCCGCAGCATCGAGCGGGTGCACAAGGTCAAGGCCAGCCGGGACGTC
ATCATTGACCAGCTGCCCGACCTGATGGGGCTCAAAGCTGTGAATGTGGCCAAGGTCGTC
GGAACCAACCCGTGTGCGGACAGGAACGGGGGGTGCAGCCACCTGTGCTTCTTCACACCC
CACGCAACCCGGTGTGGCTGCCCCATCGGCCTGGAGCTGCTGAGTGACATGAAGACCTGC
ATCGTGCCTGAGGCCTTCTTGGTCTTCACCAGCAGAGCCGCCATCCACAGGATCTCCCTC
GAGACCAATAACAACGACGTGGCCATCCCGCTCACGGGCGTCAAGGAGGCCTCAGCCCTG
GACTTTGATGTGTCCAACAACCACATTTACTGGACAGACGTCAGCCTGAAGACCATCAGC
CGCGCCTTCATGAACGGGAGCTCGGTGGAGCACGTGGTGGAGTTTGGCCTTGACTACCCC
GAGGGCATGGCCGTTGACTGGATGGGCAAGAACCTCTACTGGGCCGACACTGGGACCAAT
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
GCAGACTGTCAGGACCGCTCAGACGAGGTGGACTGTGACGCCATCTGCCTGCCCAACCAG
TTCCGGTGTGCGAGCGGCCAGTGTGTCCTCATCAAACAGCAGTGCGACTCCTTCCCCGAC
TGTATCGACGGCTCCGACGAGCTCATGTGTGAAATCACCAAGCCGCCCTCAGACGACAGC
CCGGCCCACAGCAGTGCCATCGGGCCCGTCATTGGCATCATCCTCTCTCTCTTCGTCATG
GGTGGTGTCTATTTTGTGTGCCAGCGCGTGGTGTGCCAGCGCTATGCGGGGGCCAACGGG
CCCTTCCCGCACGAGTATGTCAGCGGGACCCCGCACGTGCCCCTCAATTTCATAGCCCCG
GGCGGTTCCCAGCATGGCCCCTTCACAGGCATCGCATGCGGAAAGTCCATGATGAGCTCC
GTGAGCCTGATGGGGGGCCGGGGCGGGGTGCCCCTCTACGACCGGAACCACGTCACAGGG
GCCTCGTCCAGCAGCTCGTCCAGCACGAAGGCCACGCTGTACCCGCCGATCCTGAACCCG
CCGCCCTCCCCGGCCACGGACCCCTCCCTGTACAACATGGACATGTTCTACTCTTCAAAC
ATTCCGGCCACTGCGAGACCGTACAGGCCCTACATCATTCGAGGAATGGCGCCCCCGACG
ACGCCCTGCAGCACCGACGTGTGTGACAGCGACTACAGCGCCAGCCGCTGGAAGGCCAGC
AAGTACTACCTGGATTTGAACTCGGACTCAGACCCCTATCCACCCCCACCCACGCCCCAC
AGCCAGTACCTGTCGGCGGAGGACAGCTGCCCGCCCTCGCCCGCCACCGAGAGGAGCTAC
TTCCATCTCTTCCCGCCCCCTCCGTCCCCCTGCACGGACTCATCCTGA

• Ldl_recept_a (PF00057 )
• Ldl_recept_b (PF00058 )

• 1-31

• 1385-1407

>Low-density lipoprotein receptor-related protein 5
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

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19. Jiao X, Ventruto V, Trese MT, Shastry BS, Hejtmancik JF: Autosomal recessive familial exudative vitreoretinopathy is associated with mutations in LRP5. Am J Hum Genet. 2004 Nov;75(5):878-84. Epub 2004 Sep 2. [PubMed:15346351 ]
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21. Chung BD, Kayserili H, Ai M, Freudenberg J, Uzumcu A, Uyguner O, Bartels CF, Honing S, Ramirez A, Hanisch FG, Nurnberg G, Nurnberg P, Warman ML, Wollnik B, Kubisch C, Netzer C: A mutation in the signal sequence of LRP5 in a family with an osteoporosis-pseudoglioma syndrome (OPPG)-like phenotype indicates a novel disease mechanism for trinucleotide repeats. Hum Mutat. 2009 Apr;30(4):641-8. doi: 10.1002/humu.20916. [PubMed:19177549 ]