KEGG   Homo sapiens (human): 26960
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)
SSDB
Motif
Pfam: DUF4704 Beach DUF1088 NBCH_WD40 PH_BEACH Laminin_G_3 Neurobeachin WD40 DUF4800 PIGA
Other DBs
NCBI-GeneID: 26960
NCBI-ProteinID: NP_056493
OMIM: 604889
HGNC: 7648
Ensembl: ENSG00000172915
UniProt: Q8NFP9 B3KXQ8
Structure
Position
13:34942270..35672736
AA seq 2946 aa
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   +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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Ontology (2)   
   KEGG BRITE (2)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Genome (1)   
   KEGG GENOME (1)   
Gene (24)   
   KEGG ORTHOLOGY (1)   
   RefGene (18)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   OC (1)   
Protein sequence (29)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (26)   
DNA sequence (54)   
   RefSeq(nuc) (26)   
   GenBank (14)   
   EMBL (14)   
3D Structure (1)   
   PDB (1)   
Protein domain (10)   
   Pfam (10)   
All databases (124)   

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