Homo sapiens (human): 26509 Help Entry 26509             CDS       T01001                                  Symbol MYOF, FER1L3, HAE7 Name (RefSeq) myoferlin   KO K22125   myoferlin Organism hsa  Homo sapiens (human) Disease H01006   Hereditary angioedema Brite KEGG Orthology (KO) [BR:hsa00001]  09180 Brite Hierarchies   09182 Protein families: genetic information processing    04131 Membrane trafficking [BR:hsa04131]     26509 (MYOF) Membrane trafficking [BR:hsa04131]  Endosome - Lysosome transport   Others    Ferlins     26509 (MYOF) BRITE hierarchy SSDB OrthologParalogGene clusterGFIT Motif Pfam:  C2 FerB Ferlin_C FerA FerI NagJ_C Motif Other DBs NCBI-GeneID:  26509 NCBI-ProteinID:  NP_038479 OMIM:  604603 HGNC:  3656 Ensembl:  ENSG00000138119 UniProt:  Q9NZM1 Structure PDB LinkDB All DBs Position 10:complement(93306429..93482334) Genome browser AA seq 2061 aa AA seqDB search MLRVIVESASNIPKTKFGKPDPIVSVIFKDEKKKTKKVDNELNPVWNEILEFDLRGIPLD FSSSLGIIVKDFETIGQNKLIGTATVALKDLTGDQSRSLPYKLISLLNEKGQDTGATIDL VIGYDPPSAPHPNDLSGPSVPGMGGDGEEDEGDEDRLDNAVRGPGPKGPVGTVSEAQLAR RLTKVKNSRRMLSNKPQDFQIRVRVIEGRQLSGNNIRPVVKVHVCGQTHRTRIKRGNNPF FDELFFYNVNMTPSELMDEIISIRVYNSHSLRADCLMGEFKIDVGFVYDEPGHAVMRKWL LLNDPEDTSSGSKGYMKVSMFVLGTGDEPPPERRDRDNDSDDVESNLLLPAGIALRWVTF LLKIYRAEDIPQMDDAFSQTVKEIFGGNADKKNLVDPFVEVSFAGKKVCTNIIEKNANPE WNQVVNLQIKFPSVCEKIKLTIYDWDRLTKNDVVGTTYLHLSKIAASGGEVEDFSSSGTG AASYTVNTGETEVGFVPTFGPCYLNLYGSPREYTGFPDPYDELNTGKGEGVAYRGRILVE LATFLEKTPPDKKLEPISNDDLLVVEKYQRRRKYSLSAVFHSATMLQDVGEAIQFEVSIG NYGNKFDTTCKPLASTTQYSRAVFDGNYYYYLPWAHTKPVVTLTSYWEDISHRLDAVNTL LAMAERLQTNIEALKSGIQGKIPANQLAELWLKLIDEVIEDTRYTLPLTEGKANVTVLDT QIRKLRSRSLSQIHEAAVRMRSEATDVKSTLAEIEDWLDKLMQLTEEPQNSMPDIIIWMI RGEKRLAYARIPAHQVLYSTSGENASGKYCGKTQTIFLKYPQEKNNGPKVPVELRVNIWL GLSAVEKKFNSFAEGTFTVFAEMYENQALMFGKWGTSGLVGRHKFSDVTGKIKLKREFFL PPKGWEWEGEWIVDPERSLLTEADAGHTEFTDEVYQNESRYPGGDWKPAEDTYTDANGDK AASPSELTCPPGWEWEDDAWSYDINRAVDEKGWEYGITIPPDHKPKSWVAAEKMYHTHRR RRLVRKRKKDLTQTASSTARAMEELQDQEGWEYASLIGWKFHWKQRSSDTFRRRRWRRKM APSETHGAAAIFKLEGALGADTTEDGDEKSLEKQKHSATTVFGANTPIVSCNFDRVYIYH LRCYVYQARNLLALDKDSFSDPYAHICFLHRSKTTEIIHSTLNPTWDQTIIFDEVEIYGE PQTVLQNPPKVIMELFDNDQVGKDEFLGRSIFSPVVKLNSEMDITPKLLWHPVMNGDKAC GDVLVTAELILRGKDGSNLPILPPQRAPNLYMVPQGIRPVVQLTAIEILAWGLRNMKNFQ MASITSPSLVVECGGERVESVVIKNLKKTPNFPSSVLFMKVFLPKEELYMPPLVIKVIDH RQFGRKPVVGQCTIERLDRFRCDPYAGKEDIVPQLKASLLSAPPCRDIVIEMEDTKPLLA SKLTEKEEEIVDWWSKFYASSGEHEKCGQYIQKGYSKLKIYNCELENVAEFEGLTDFSDT FKLYRGKSDENEDPSVVGEFKGSFRIYPLPDDPSVPAPPRQFRELPDSVPQECTVRIYIV RGLELQPQDNNGLCDPYIKITLGKKVIEDRDHYIPNTLNPVFGRMYELSCYLPQEKDLKI SVYDYDTFTRDEKVGETIIDLENRFLSRFGSHCGIPEEYCVSGVNTWRDQLRPTQLLQNV ARFKGFPQPILSEDGSRIRYGGRDYSLDEFEANKILHQHLGAPEERLALHILRTQGLVPE HVETRTLHSTFQPNISQGKLQMWVDVFPKSLGPPGPPFNITPRKAKKYYLRVIIWNTKDV ILDEKSITGEEMSDIYVKGWIPGNEENKQKTDVHYRSLDGEGNFNWRFVFPFDYLPAEQL CIVAKKEHFWSIDQTEFRIPPRLIIQIWDNDKFSLDDYLGFLELDLRHTIIPAKSPEKCR LDMIPDLKAMNPLKAKTASLFEQKSMKGWWPCYAEKDGARVMAGKVEMTLEILNEKEADE RPAGKGRDEPNMNPKLDLPNRPETSFLWFTNPCKTMKFIVWRRFKWVIIGLLFLLILLLF VAVLLYSLPNYLSMKIVKPNV NT seq 6186 nt NT seq  +upstreamnt  +downstreamnt atgctgcgagtgattgtggaatctgccagcaatatccctaaaacgaaatttggcaagccg gatcctattgtttctgtcatttttaaggatgagaaaaagaaaacaaagaaagttgataat gaattgaaccctgtctggaatgagattttggagtttgacttgaggggtataccactggac ttttcatcttcccttgggattattgtgaaagattttgagacaattggacaaaataaatta attggcacggcgactgtagccctgaaggacctgactggtgaccagagcagatccctgccg tacaagctgatctccctgctaaatgaaaaagggcaagatactggggccaccattgacttg gtgatcggctatgatccgccttctgctccacatccaaatgacctgagcgggcccagcgtg ccaggcatgggaggagatggggaagaagatgaaggtgatgaagacaggttggacaatgca gtcaggggccctgggcccaaggggccagttgggacggtgtcggaagctcagcttgctcgg aggctcaccaaagtaaagaacagccggcggatgctgtcaaataagccacaggacttccag atccgcgtccgagtgattgagggccgacagttaagtggtaacaacataaggcctgtggtc aaagttcacgtctgtggccagacacaccgaacaagaatcaagagaggaaacaaccctttt tttgatgagttgtttttctacaatgtcaacatgaccccttctgaattgatggatgagatc atcagcatccgggtttataattctcactctctgcgggcagattgtctgatgggggaattt aagattgatgttggatttgtttatgatgaacctggccatgctgtcatgagaaagtggctt cttctcaatgacccggaagataccagttcaggttctaaaggttatatgaaagtcagcatg tttgtcctgggaaccggagatgagcctcctcctgagagacgagatcgtgataatgacagt gatgatgtggagagtaatttgttactccctgctggcattgccctccggtgggtgaccttc ttgctgaaaatctaccgagctgaggacatcccccagatggatgatgccttctcacagaca gtaaaggaaatatttggaggcaatgcagataagaaaaatctcgtggatccttttgtagaa gtttcctttgctggaaaaaaggtttgtacaaacataattgagaaaaatgcaaacccagag tggaatcaggtcgtcaatcttcagatcaagtttccttcagtgtgtgaaaaaataaaacta acaatatatgactgggaccgtcttactaaaaatgatgtagttggaacaacatatctacac ctctctaaaattgctgcctctggtggggaagtggaagatttctcatcttcgggaactggg gctgcatcatatacagtaaacacaggagaaacagaggtaggctttgttccaacgtttgga ccttgttacctgaatctttatggaagccccagagagtacacgggattcccagacccctat gatgagctgaatactggaaagggggaaggagttgcctacagaggcaggatcttggttgaa ttagccacttttcttgagaagacaccaccagataaaaagcttgagcccatttcaaatgat gacctgctggttgttgagaaataccagcgaaggcggaagtacagcctgtctgccgtgttt cattcagccaccatgttgcaagatgttggtgaggccattcagtttgaagtcagcattggg aactatggcaacaagtttgacaccacctgtaagcctttggcatcaacaactcagtacagc cgtgctgtatttgatggcaactactattattacttgccttgggcccacaccaagccagtt gttaccctgacttcatactgggaggatattagtcatcgcctggatgcggtgaacactctc ctagctatggcagaacggctgcaaacaaatatagaagctctaaaatcagggatacaaggt aaaattcctgcaaaccagctggctgaattgtggctgaagctgatagatgaagttatagaa gacacgagatacacgttgcctctcacagaaggaaaagccaacgtcacagttctcgatact cagatccgaaagctgcggtccaggtctctctcccaaatacatgaggcggctgtgaggatg aggtcggaagccacagatgtgaagtccacactggcagaaattgaggactggcttgataaa ttaatgcagctgactgaagagccacagaacagcatgcctgacatcatcatctggatgatc cggggagagaagagactggcctatgcacgaattcccgcacatcaggtcttgtactccacc agtggtgagaatgcatctggaaaatactgtgggaaaacccaaaccatctttctgaagtat ccacaggagaaaaacaacgggccaaaggtgcctgtggagttgcgagtgaacatctggcta ggcttaagtgctgtggagaagaagtttaacagcttcgcagaaggaactttcaccgtcttt gctgaaatgtatgaaaatcaagctctcatgtttggaaaatggggtacttctggattagta ggacgtcataagttttctgatgtcacaggaaaaataaaactcaagagggaattttttctg cctccaaaaggctgggaatgggaaggagagtggatagttgatcctgaaagaagcttgctg actgaggcagatgcaggtcacacggagttcactgatgaagtctatcagaacgagagccgc taccccgggggcgactggaagccggccgaggacacctacacggatgcgaacggcgataaa gcagcatcacccagcgagttgacttgtcctccaggttgggaatgggaagatgatgcatgg tcttatgacataaatcgagcggtggatgagaaaggctgggaatatggaatcaccattcct cctgatcataagcccaaatcctgggttgcagcagagaaaatgtaccacactcatagacgg cgaaggctggtccgaaaacgcaagaaagatttaacacagactgcttcaagcaccgcaagg gccatggaggaattgcaagaccaagagggctgggaatatgcttctctaattggctggaaa tttcactggaaacaacgtagttcagataccttccgccgcagacgctggaggagaaaaatg gctccttcagaaacacatggtgcagctgccatctttaaacttgaaggtgcccttggggca gacactaccgaagatggggatgagaagagcctggagaaacagaagcacagtgccaccact gtgttcggagcaaacacccccattgtttcctgcaattttgacagagtctacatctaccat ctgcgctgctatgtctatcaagccagaaacctcttggctttagataaggatagcttttca gatccatatgctcatatctgtttcctccatcggagcaaaaccactgagatcatccattca accctgaatcccacgtgggaccaaacaattatattcgatgaagttgaaatctatggggaa ccccaaacagttctacagaatccacccaaagttatcatggaactttttgacaatgaccaa gtgggcaaagatgaatttttaggacgaagcattttctctcctgtggtgaaactgaactca gaaatggacatcacacccaaacttctctggcacccagtaatgaatggagacaaagcctgc ggggatgttcttgtaactgcagagctgattctgaggggcaaggatggctccaaccttccc attcttccccctcaaagggcgccaaatctatacatggtcccccaggggatcaggcctgtg gtccagctcactgccattgagattctagcttggggcttaagaaatatgaaaaacttccag atggcttctatcacatcccccagtcttgttgtggagtgtggaggagaaagggtggaatcg gtggtgatcaaaaaccttaagaagacacccaactttccaagttctgttctcttcatgaaa gtgttcttgcccaaggaggaattgtacatgcccccactggtgatcaaggtcatcgaccac aggcagtttgggcggaagcctgtcgtcggccagtgcaccatcgagcgcctggaccgcttt cgctgtgacccttatgcagggaaagaggacatcgtcccacagctcaaagcctcccttctg tctgccccaccatgccgggacatcgttatcgaaatggaagacaccaaaccattactggct tctaagctgacagaaaaggaggaagaaatcgtggactggtggagtaaattttatgcttcc tcaggggaacatgaaaaatgcggacagtatattcagaaaggctattccaagctcaagata tataattgtgaactagaaaatgtagcagaatttgagggcctgacagacttctcagatacg ttcaagttgtaccgaggcaagtcggatgaaaatgaagatccttctgtggttggagagttt aagggctcctttcggatctaccctctgccggatgaccccagcgtgccagcccctcccaga cagtttcgggaattacctgacagcgtcccacaggaatgcacggttaggatttacattgtt cgaggcttagagctccagccccaggacaacaatggcctgtgtgacccttacataaaaata acactgggcaaaaaagtcattgaagaccgagatcactacattcccaacactctcaaccca gtctttggcaggatgtacgaactgagctgctacttacctcaagaaaaagacctgaaaatt tctgtctatgattatgacacctttacccgggatgaaaaagtaggagaaacaattattgat ctggaaaaccgattcctttcccgctttgggtcccactgcggcataccagaggagtactgt gtttctggagtcaatacctggcgagatcaactgagaccaacacagctgcttcaaaatgtc gccagattcaaaggcttcccacaacccatcctttccgaagatgggagtagaatcagatat ggaggacgagactacagcttggatgaatttgaagccaacaaaatcctgcaccagcacctc ggggcccctgaagagcggcttgctcttcacatcctcaggactcaggggctggtccctgag cacgtggaaacaaggactttgcacagcaccttccagcccaacatttcccagggaaaactt cagatgtgggtggatgttttccccaagagtttggggccaccaggccctcctttcaacatc acaccccggaaagccaagaaatactacctgcgtgtgatcatctggaacaccaaggacgtt atcttggacgagaaaagcatcacaggagaggaaatgagtgacatctacgtcaaaggctgg attcctggcaatgaagaaaacaaacagaaaacagatgtccattacagatctttggatggt gaagggaattttaactggcgatttgttttcccgtttgactaccttccagccgaacaactc tgtatcgttgcgaaaaaagagcatttctggagtattgaccaaacggaatttcgaatccca cccaggctgatcattcagatatgggacaatgacaagttttctctggatgactacttgggt ttcctagaacttgacttgcgtcacacgatcattcctgcaaaatcaccagagaaatgcaga ttggacatgattccggacctcaaagccatgaacccccttaaagccaagacagcctccctc tttgagcagaagtccatgaaaggatggtggccatgctacgcagagaaagatggcgcccgc gtaatggctgggaaagtggagatgacattggaaatcctcaacgagaaggaggccgacgag aggccagccgggaaggggcgggacgaacccaacatgaaccccaagctggacttaccaaat cgaccagaaacctccttcctctggttcaccaacccatgcaagaccatgaagttcatcgtg tggcgccgctttaagtgggtcatcatcggcttgctgttcctgcttatcctgctgctcttc gtggccgtgctcctctactctttgccgaactatttgtcaatgaagattgtaaagccaaat gtgtaa

DBGET integrated database retrieval system