Homo sapiens (human): 26960 Help Entry 26960             CDS       T01001                                  Symbol NBEA, BCL8B, LYST2, NEDEGE Name (RefSeq) neurobeachin   KO K24183   neurobeachin Organism hsa  Homo sapiens (human) Disease H02459   Syndromic neurodevelopmental disorder Brite KEGG Orthology (KO) [BR:hsa00001]  09180 Brite Hierarchies   09182 Protein families: genetic information processing    04131 Membrane trafficking [BR:hsa04131]     26960 (NBEA) Membrane trafficking [BR:hsa04131]  Protein recycling   Rab GTPases and associated proteins    Rab4 associated proteins     26960 (NBEA) BRITE hierarchy SSDB OrthologParalogGene clusterGFIT Motif Pfam:  DUF4704 Beach DUF1088 NBCH_WD40 PH_BEACH Laminin_G_3 Neurobeachin WD40 WD40_CDC20-Fz WD40_Prp19 Beta-prop_EML_2 WDR55 Beta-prop_WDR75_1st Beta-prop_WDR90_POC16_2nd Beta-prop_EML WD40_WDHD1_1st DUF4800 PIGA Motif Other DBs NCBI-GeneID:  26960 NCBI-ProteinID:  NP_056493 OMIM:  604889 HGNC:  7648 Ensembl:  ENSG00000172915 UniProt:  Q8NFP9 B3KXQ8 Structure PDBPDBj LinkDB All DBs Position 13:34942270..35672736 Genome browser AA seq 2946 aa AA seqDB search MASEKPGPGPGLEPQPVGLIAVGAAGGGGGGSGGGGTGGSGMGELRGASGSGSVMLPAGM INPSVPIRNIRMKFAVLIGLIQVGEVSNRDIVETVLNLLVGGEFDLEMNFIIQDAESITC MTELLEHCDVTCQAEIWSMFTAILRKSVRNLQTSTEVGLIEQVLLKMSAVDDMIADLLVD MLGVLASYSITVKELKLLFSMLRGESGIWPRHAVKLLSVLNQMPQRHGPDTFFNFPGCSA AAIALPPIAKWPYQNGFTLNTWFRMDPLNNINVDKDKPYLYCFRTSKGVGYSAHFVGNCL IVTSLKSKGKGFQHCVKYDFQPRKWYMISIVHIYNRWRNSEIRCYVNGQLVSYGDMAWHV NTNDSYDKCFLGSSETADANRVFCGQLGAVYVFSEALNPAQIFAIHQLGPGYKSTFKFKS ESDIHLAEHHKQVLYDGKLASSIAFTYNAKATDAQLCLESSPKENASIFVHSPHALMLQD VKAIVTHSIHSAIHSIGGIQVLFPLFAQLDNRQLNDSQVETTVCATLLAFLVELLKSSVA MQEQMLGGKGFLVIGYLLEKSSRVHITRAVLEQFLSFAKYLDGLSHGAPLLKQLCDHILF NPAIWIHTPAKVQLSLYTYLSAEFIGTATIYTTIRRVGTVLQLMHTLKYYYWVINPADSS GITPKGLDGPRPSQKEIISLRAFMLLFLKQLILKDRGVKEDELQSILNYLLTMHEDENIH DVLQLLVALMSEHPASMIPAFDQRNGIRVIYKLLASKSESIWVQALKVLGYFLKHLGHKR KVEIMHTHSLFTLLGERLMLHTNTVTVTTYNTLYEILTEQVCTQVVHKPHPEPDSTVKIQ NPMILKVVATLLKNSTPSAELMEVRRLFLSDMIKLFSNSRENRRCLLQCSVWQDWMFSLG YINPKNSEEQKITEMVYNIFRILLYHAIKYEWGGWRVWVDTLSIAHSKVTYEAHKEYLAK MYEEYQRQEEENIKKGKKGNVSTISGLSSQTTGAKGGMEIREIEDLSQSQSPESETDYPV STDTRDLLMSTKVSDDILGNSDRPGSGVHVEVHDLLVDIKAEKVEATEVKLDDMDLSPET LVGGENGALVEVESLLDNVYSAAVEKLQNNVHGSVGIIKKNEEKDNGPLITLADEKEDLP NSSTSFLFDKIPKQEEKLLPELSSNHIIPNIQDTQVHLGVSDDLGLLAHMTGSVDLTCTS SIIEEKEFKIHTTSDGMSSISERDLASSTKGLEYAEMTATTLETESSSSKIVPNIDAGSI ISDTERSDDGKESGKEIRKIQTTTTTQAVQGRSITQQDRDLRVDLGFRGMPMTEEQRRQF SPGPRTTMFRIPEFKWSPMHQRLLTDLLFALETDVHVWRSHSTKSVMDFVNSNENIIFVH NTIHLISQMVDNIIIACGGILPLLSAATSPTGSKTELENIEVTQGMSAETAVTFLSRLMA MVDVLVFASSLNFSEIEAEKNMSSGGLMRQCLRLVCCVAVRNCLECRQRQRDRGNKSSHG SSKPQEVPQSVTATAASKTPLENVPGNLSPIKDPDRLLQDVDINRLRAVVFRDVDDSKQA QFLALAVVYFISVLMVSKYRDILEPQRETTRTGSQPGRNIRQEINSPTSTVVVIPSIPHP SLNHGFLAKLIPEQSFGHSFYKETPAAFPDTIKEKETPTPGEDIQVESSIPHTDSGIGEE QVASILNGAELETSTGPDAMSELLSTLSSEVKKSQESLTENPSETLKPATSISSISQTKG INVKEILKSLVAAPVEIAECGPEPIPYPDPALKRETQAILPMQFHSFDRSVVVPVKKPPP GSLAVTTVGATTAGSGLPTGSTSNIFAATGATPKSMINTTGAVDSGSSSSSSSSSFVNGA TSKNLPAVQTVAPMPEDSAENMSITAKLERALEKVAPLLREIFVDFAPFLSRTLLGSHGQ ELLIEGLVCMKSSTSVVELVMLLCSQEWQNSIQKNAGLAFIELINEGRLLCHAMKDHIVR VANEAEFILNRQRAEDVHKHAEFESQCAQYAADRREEEKMCDHLISAAKHRDHVTANQLK QKILNILTNKHGAWGAVSHSQLHDFWRLDYWEDDLRRRRRFVRNAFGSTHAEALLKAAIE YGTEEDVVKSKKTFRSQAIVNQNAETELMLEGDDDAVSLLQEKEIDNLAGPVVLSTPAQL IAPVVVAKGTLSITTTEIYFEVDEDDSAFKKIDTKVLAYTEGLHGKWMFSEIRAVFSRRY LLQNTALEVFMANRTSVMFNFPDQATVKKVVYSLPRVGVGTSYGLPQARRISLATPRQLY KSSNMTQRWQRREISNFEYLMFLNTIAGRTYNDLNQYPVFPWVLTNYESEELDLTLPGNF RDLSKPIGALNPKRAVFYAERYETWEDDQSPPYHYNTHYSTATSTLSWLVRIEPFTTFFL NANDGKFDHPDRTFSSVARSWRTSQRDTSDVKELIPEFYYLPEMFVNSNGYNLGVREDEV VVNDVDLPPWAKKPEDFVRINRMALESEFVSCQLHQWIDLIFGYKQRGPEAVRALNVFHY LTYEGSVNLDSITDPVLREAMEAQIQNFGQTPSQLLIEPHPPRSSAMHLCFLPQSPLMFK DQMQQDVIMVLKFPSNSPVTHVAANTLPHLTIPAVVTVTCSRLFAVNRWHNTVGLRGAPG YSLDQAHHLPIEMDPLIANNSGVNKRQITDLVDQSIQINAHCFVVTADNRYILICGFWDK SFRVYSTETGKLTQIVFGHWDVVTCLARSESYIGGDCYIVSGSRDATLLLWYWSGRHHII GDNPNSSDYPAPRAVLTGHDHEVVCVSVCAELGLVISGAKEGPCLVHTITGDLLRALEGP ENCLFPRLISVSSEGHCIIYYERGRFSNFSINGKLLAQMEINDSTRAILLSSDGQNLVTG GDNGVVEVWQACDFKQLYIYPGCDAGIRAMDLSHDQRTLITGMASGSIVAFNIDFNRWHY EHQNRY NT seq 8841 nt NT seq  +upstreamnt  +downstreamnt atggctagcgagaagccgggcccgggcccggggctcgagcctcagcccgtggggctcatt gccgtcggggccgctggcggaggcggcgggggcagcggtggtggcggcaccgggggcagc gggatgggggagctaaggggggcgtccggctccggctcggtgatgctccccgcggggatg attaacccttcggtgccgatccgcaacatccggatgaaattcgcagtgttgattggactc atacaggtcggagaggtcagcaacagggacatcgtggagacggtgctcaacctgctggtt ggtggagaatttgacttggagatgaactttattatccaggatgctgagagtataacatgt atgacagagcttttggagcactgtgatgtaacatgtcaagcagaaatatggagcatgttt acagccattctacgaaaaagtgttcggaatttacagactagcacagaagttgggctaatt gaacaagtattgctgaaaatgagtgctgtagatgacatgatagcagatcttctagttgat atgttgggggttcttgccagctacagcatcactgtcaaggagttgaagcttttgttcagc atgcttcgaggagaaagtggaatctggccaagacatgcagtaaaattattatcagttctt aatcagatgccacagagacacggtcctgatacttttttcaatttccctggttgtagcgct gcggcaattgccttgcctcctattgcaaagtggccttatcagaatggcttcaccttaaac acttggtttcgtatggatccattaaataatattaatgttgataaggataaaccttatctt tattgttttcgtactagcaaaggagttggttactctgctcattttgttggcaactgttta atagtcacatcattgaagtccaaaggaaaaggttttcagcattgtgtgaaatatgatttt caaccacgcaagtggtacatgatcagcattgtccacatttacaatcgatggaggaacagt gaaattcggtgttatgttaatggacaactggtatcttatggtgatatggcttggcatgtt aacacaaatgatagctatgacaagtgctttcttggatcatcagaaactgctgatgcaaat agggtattctgtggtcaacttggtgccgtgtatgtgttcagtgaagcactcaacccagca cagatatttgcaattcatcagttaggacctggatataagagtaccttcaagtttaaatct gagagtgatattcatttggcagaacatcataaacaggtgttatatgatgggaaacttgca agtagcattgcctttacatataatgctaaggccactgatgctcagctctgcctggaatca tcaccaaaagagaatgcatcaatttttgtgcattccccacatgctctaatgcttcaggat gtgaaagcgatagtaacacattcaattcatagtgcaattcattcaattggagggattcaa gtgctttttccactttttgcccaattggataataggcagctcaatgacagtcaagtggaa acaactgtctgtgctactctgttggcattcctggttgaactacttaaaagttcagtagcc atgcaagaacagatgctgggtggaaaaggctttttagtcattggctacttacttgaaaag tcatcaagagttcatataactagagctgtcctggagcaatttttatcttttgcaaaatac cttgatggtttatctcatggagcacctttgctgaagcagctttgtgatcacattttattt aacccagccatctggatacatacacctgcaaaggttcagctttccctatacacatatttg tctgctgaatttattggaactgctaccatctacaccaccatacgcagagtaggaacagta ttacagctaatgcacaccttaaaatattactactgggttattaatcctgctgacagtagt ggcattacacctaaaggattagatggtccccggccatcacaaaaagaaattatatcactg agggcatttatgctactttttctgaaacagctgatactaaaggatcgaggggtcaaggaa gatgaacttcagagtatattaaattacctacttacgatgcatgaggatgaaaatattcat gatgtgctacagttactggtggctttaatgtcggaacacccagcctcaatgataccagca tttgatcaaagaaatggaataagggtgatctacaaattattggcttctaaaagtgaaagt atttgggttcaagctttgaaggttctgggatactttctgaagcatttaggtcacaagaga aaagttgaaattatgcacacccatagtcttttcactcttcttggagaaaggctgatgttg catacaaacactgtgactgtcaccacatacaacacactttatgagatcttgacagaacaa gtatgtactcaggtcgtacacaaaccacatccagagccagattctacagtgaaaattcag aatccaatgattcttaaagtggtggcaactttgttaaaaaactctacaccaagtgcagag ctgatggaagttcgtcgtttatttttatctgatatgataaaacttttcagtaacagccgt gaaaatagaagatgcttattgcagtgttcagtgtggcaggattggatgttttctcttggc tatatcaatcctaaaaattctgaggaacagaagattaccgaaatggtctacaatatcttc cggattcttttgtatcatgcaataaaatatgaatggggaggctggagagtctgggtggat accctctcaatagcccattccaaggtcacttatgaagctcataaggaatacctagccaaa atgtatgaggaatatcaaagacaagaggaggaaaacattaaaaagggaaagaaagggaat gtgagcaccatctctggtctttcatcacagacaacaggagcaaaaggtggaatggaaatt cgagagatagaagatctttcacaaagccagagcccagaaagtgagaccgattaccctgtc agcacagatactcgagacttactcatgtcaacaaaagtgtcagatgatattcttggaaat tcagatagaccaggaagtggtgtacatgtggaagtacatgatcttttagtagatataaaa gcagagaaagtggaagcaacagaagtaaagctcgatgatatggatttatcaccggagact ttagtaggtggagagaatggtgcccttgtggaggttgaatctctgttggataatgtatat agtgctgctgttgagaaactccagaacaatgtacatggaagtgttggtatcattaaaaaa aatgaagaaaaggataatggtccattgataacattagcagatgagaaagaagaccttccc aatagtagtacatcatttctctttgataaaatacccaaacaggaggaaaaactacttcct gaactttctagcaatcacattattccaaatattcaggacacacaagtacatcttggtgtt agtgatgatcttggattgcttgctcacatgaccggtagcgtagacttaacttgtacatcc agtataatagaagaaaaagaattcaaaatccatacaacttcagatggaatgagcagtatt tctgaaagagacttagcgtcatcaactaaggggctggagtatgctgaaatgactgctaca actctggaaactgagtcttctagtagcaaaattgtaccaaatattgatgcaggaagtata atttcagatactgaaaggtctgacgatggcaaagaatcaggaaaagaaatccgaaaaatc caaacaactactacgacacaagctgtgcagggtcggtctatcacccaacaagaccgagat ctccgagttgatttaggatttcgaggaatgccaatgactgaggaacagcgacgccagttt agcccaggtccacggactacaatgtttcgtattcctgagtttaaatggtctccaatgcac cagcggcttctcactgatttactatttgcattagaaactgatgtacatgtttggaggagc cattctacaaagtctgtaatggattttgtcaatagcaatgaaaatattatttttgtacat aacacaattcacctcatttcccaaatggtagacaacatcatcattgcttgtggaggaatt ttacctttgctctctgctgctacatcaccaactggttctaagacggaattggaaaatatt gaagtgacacaaggcatgtcagctgagacagcagtaactttcctcagccggctgatggct atggttgatgtacttgtgtttgcaagctctctaaattttagtgagattgaagctgagaaa aacatgtcttctggaggtttaatgcgacagtgcctaagattagtttgttgtgttgctgtg agaaactgtttagaatgtcggcaaagacagagagacaggggaaataaatcttcccatgga agcagtaaacctcaggaagttcctcaaagtgtgactgctacagcagcttcgaagactcca ttggaaaatgttccaggtaacctttctcctattaaggatccggatagacttcttcaggat gttgatatcaatcgccttcgtgctgttgtctttcgggatgtggatgatagcaaacaagca cagttcttagctctggctgttgtttacttcatttcggttctgatggtttccaagtatcgt gacatattagaaccccagagagagactacaagaactggaagccaaccaggtagaaacatc aggcaagaaataaattcaccaacaagtacagttgtggtcataccatctatccctcatcca agtttgaaccatggattccttgccaagttaattcctgagcagagctttggccactcattt tacaaagaaacacctgctgcatttccagacaccataaaagaaaaagaaacaccaactcct ggtgaagatattcaggtagaaagttcaattccccatacagattcaggaattggagaggag caagtggctagcatcctgaatggggcagaattagaaacaagtacaggccctgatgccatg agtgaactcttatccactttgtcatccgaagtgaagaaatcacaagagagcttaactgaa aatcctagtgaaacgttgaagcctgcaacatccatatctagcattagtcaaaccaaaggc atcaatgtgaaggaaatactgaaaagtcttgtggctgctccagttgaaatagcagaatgt ggccctgaacctatcccatacccagatccagcattgaagagagaaacacaagctattctt cctatgcagtttcattcctttgacaggagtgttgtggtgcctgtaaagaaaccacctcca ggtagtttagctgtaaccactgtgggagccactactgctggaagtgggctgccaacaggc agtacctctaatatatttgctgctactggagctacaccaaaaagtatgattaatacaaca ggtgccgtggattcagggtcctcctcctcttcctcctcttctagttttgtgaatggtgct actagcaaaaaccttccagctgtacaaactgttgctccaatgccagaagattcagctgaa aatatgagcatcactgcaaaacttgaaagagcgttagaaaaagttgctcctcttcttcgt gaaatttttgtagactttgccccattcctatctcgtacacttcttggcagtcatggacaa gagctattgatagaaggccttgtttgtatgaagtccagcacatctgtggttgagcttgtt atgctgctttgttctcaggaatggcaaaactctattcagaagaatgcaggacttgcattt attgagctcatcaatgaaggaagattactgtgccatgctatgaaggaccatatagtccgt gttgcaaatgaagctgagtttattttgaacagacaaagagccgaggatgtacataaacat gcagagtttgagtcacagtgtgcccaatatgctgctgatagaagagaggaagaaaagatg tgtgaccatcttatcagtgctgctaaacatcgagatcatgtaacagcaaatcagctgaaa cagaagattctcaatattctcacaaataaacatggtgcttggggagcagtttctcatagc caattgcatgatttctggcgtttggattactgggaagatgatcttcgtcgaaggagacga tttgttcgcaatgcatttggctccactcatgctgaagcattgctgaaagctgcaatagaa tatggcacggaagaagatgtagtaaagtcaaagaaaacattcagaagtcaagcaatagtg aaccaaaatgcagagacagaacttatgctggaaggagacgatgatgcagtcagtctgcta caggagaaagaaattgacaaccttgcaggcccagtggttctcagcacccctgcccagctc atcgctcccgtggtggtggccaaggggactctctccatcaccacgacagaaatctacttc gaggtagatgaggatgattctgccttcaagaagatcgacacgaaagttcttgcatacact gagggacttcacggaaaatggatgttcagcgagatacgagctgtattttcaagacgttac cttctacaaaacactgctttggaagtatttatggcaaaccgaacctcagttatgtttaat ttccctgatcaagcaacagtaaaaaaagttgtctatagcttgcctcgggttggagtaggg accagctatggtctgccacaagccaggaggatatcattggccactcctcgacagctttat aaatcttccaatatgactcagcgctggcaaagaagggaaatttcaaacttcgaatatttg atgttccttaatactattgcaggacggacatataatgatctgaaccaatatccagtgttt ccgtgggtgttaaccaactatgaatcagaagagttggacctgactcttccaggaaacttc agggatctatcaaagccaattggtgctttgaaccccaagagagctgtgttttatgcagag cgttatgagacatgggaagatgatcaaagcccaccctaccattataatacccattattca acagcaacatctactttatcctggcttgttcgaattgaacctttcacaaccttcttcctc aatgcaaatgatggaaaatttgatcatccagatcgaaccttctcatccgttgcaaggtct tggagaactagtcagagagatacttctgatgtaaaggaactaattccagagttctactac ctaccagagatgtttgtcaacagtaatggatataatcttggagtcagagaagatgaagta gtggtaaatgatgttgatcttcccccttgggcaaaaaaacctgaagactttgtgcggatc aacaggatggccctagaaagtgaatttgtttcttgccaacttcatcagtggatcgacctt atatttggctataagcagcgaggaccagaagcagttcgtgctctgaatgtttttcactac ttgacttatgaaggctctgtgaacctggatagtatcactgatcctgtgctcagggaggcc atggaggcacagatacagaactttggacagacgccatctcagttgcttattgagccacat ccgcctcggagctctgccatgcacctgtgtttccttccacagagtccgctcatgtttaaa gatcagatgcaacaggatgtgataatggtgctgaagtttccttcaaattctccagtaacc catgtggcagccaacactctgccccacttgaccatccccgcagtggtgacagtgacttgc agccgactctttgcagtgaatagatggcacaacacagtaggcctcagaggagctccagga tactccttggatcaagcccaccatcttcccattgaaatggatccattaatagccaataat tcaggtgtaaacaaacggcagatcacagacctcgttgaccagagtatacaaatcaatgca cattgttttgtggtaacagcagataatcgctatattcttatctgtggattctgggataag agcttcagagtttattctacagaaacagggaaattgactcagattgtatttggccattgg gatgtggtcacttgcttggccaggtccgagtcatacattggtggggactgctacatcgtg tccggatctcgagatgccaccctgctgctctggtactggagtgggcggcaccatatcata ggagacaaccctaacagcagtgactatccggcaccaagagccgtcctcacaggccatgac catgaagttgtctgtgtttctgtctgtgcagaacttgggcttgttatcagtggtgctaaa gagggcccttgccttgtccacaccatcactggagatttgctgagagcccttgaaggacca gaaaactgcttattcccacgcttgatatctgtctccagcgaaggccactgtatcatatac tatgaacgagggcgattcagtaatttcagcattaatgggaaacttttggctcaaatggag atcaatgattcaacacgggccattctcctgagcagtgacggccagaacctggtcaccgga ggggacaatggggtagtagaggtctggcaggcctgtgacttcaagcaactgtacatttac cctggatgtgatgctggcattagagcaatggacttgtcccatgaccagaggactctgatc actggcatggcttctggtagcattgtagcttttaatatagattttaatcggtggcattat gagcatcagaacagatactga

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