KEGG   Homo sapiens (human): 51594
Entry
51594             CDS       T01001                                 
Symbol
NBAS, ILFS2, NAG, SOPH
Name
(RefSeq) NBAS subunit of NRZ tethering complex
  KO
K20473  neuroblastoma-amplified sequence
Organism
hsa  Homo sapiens (human)
Disease
H01367  Infantile liver failure
H02481  Syndromic disorder with short stature
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    51594 (NBAS)
Membrane trafficking [BR:hsa04131]
 Endoplasmic reticulum (ER) - Golgi transport
  Retrieval pathways
   NRZ (DSL1) complex
    51594 (NBAS)
SSDB
Motif
Pfam: Nbas_N Sec39 PMEI
Other DBs
NCBI-GeneID: 51594
NCBI-ProteinID: NP_056993
OMIM: 608025
HGNC: 15625
Ensembl: ENSG00000151779
UniProt: A2RRP1 G1UI26
Position
2:complement(14778909..15561334)
AA seq 2371 aa
MAAPESGPALSPGTAEGEEETILYDLLVNTEWPPETEVQPRGNQKHGASFIITKAIRDRL
LFLRQYIWYSPAPFLLPDGLVRLVNKQINWHLVLASNGKLLAAVQDQCVEIRSAKDDFTS
IIGKCQVPKDPKPQWRRVAWSYDCTLLAYAESTGTVRVFDLMGSELFVISPASSFIGDLS
YAIAGLIFLEYKASAQWSAELLVINYRGELRSYLVSVGTNQSYQESHCFSFSSHYPHGIN
TAIYHPGHRLLLVGGCETAEVGMSKASSCGLSAWRVLSGSPYYKQVTNGGDGVTAVPKTL
GLLRMLSVKFYSRQGQEQDGIFKMSLSPDGMLLAAIHFSGKLSIWAIPSLKQQGEWGQNE
QPGYDDLNPDWRLSTEKRKKIKDKESFYPLIDVNWWADSAVTLARCSGALTVSSVKTLKN
LLGKSCEWFEPSPQVTATHDGGFLSLECEIKLAPKRSRLETRAGEEDEGEEDSDSDYEIS
AKARYFGYIKQGLYLVTEMERFAPPRKRPRTITKNYRLVSLRSTTPEELYQRKIESEEYE
EALSLAHTYGLDTDLVYQRQWRKSAVNVASIQNYLSKIKKRSWVLHECLERVPENVDAAK
ELLQYGLKGTDLEALLAIGKGADDGRFTLPGEIDIDSISYEELSPPDEEPAKNKKEKELK
KRQELLKLVNFSKLTLEQKELCRCRRKLLTYLDRLATYEEILGVPHASEQRYDAEFFKKF
RNQNIVLSARTYAQESNVQALEILFTYHGSDLLPHRLAILSNFPETTSPHEYSVLLPEAC
FNGDSLMIIPWHEHKHRAKDWCEELACRMVVEPNLQDESEFLYAAQPELLRFRMTQLTVE
KVMDWYQTRAEEIEHYARQVDCALSLIRLGMERNIPGLLVLCDNLVTLETLVYEARCDVT
LTLKELQQMKDIEKLRLLMNSCSEDKYVTSAYQWMVPFLHRCEKQSPGVANELLKEYLVT
LAKGDLKFPLKIFQHSKPDLQQKIIPDQDQLMAIALECIYTCERNDQLCLCYDLLECLPE
RGYGDKTEATTKLHDMVDQLEQILSVSELLEKHGLEKPISFVKNTQSSSEEARKLMVRLT
RHTGRKQPPVSESHWRTLLQDMLTMQQNVYTCLDSDACYEIFTESLLCSSRLENIHLAGQ
MMHCSACSENPPAGIAHKGKPHYRVSYEKSIDLVLAASREYFNSSTNLTDSCMDLARCCL
QLITDRPPAIQEELDLIQAVGCLEEFGVKILPLQVRLCPDRISLIKECISQSPTCYKQST
KLLGLAELLRVAGENPEERRGQVLILLVEQALRFHDYKAASMHCQELMATGYPKSWDVCS
QLGQSEGYQDLATRQELMAFALTHCPPSSIELLLAASSSLQTEILYQRVNFQIHHEGGEN
ISASPLTSKAVQEDEVGVPGSNSADLLRWTTATTMKVLSNTTTTTKAVLQAVSDGQWWKK
SLTYLRPLQGQKCGGAYQIGTTANEDLEKQGCHPFYESVISNPFVAESEGTYDTYQHVPV
ESFAEVLLRTGKLAEAKNKGEVFPTTEVLLQLASEALPNDMTLALAYLLALPQVLDANRC
FEKQSPSALSLQLAAYYYSLQIYARLAPCFRDKCHPLYRADPKELIKMVTRHVTRHEHEA
WPEDLISLTKQLHCYNERLLDFTQAQILQGLRKGVDVQRFTADDQYKRETILGLAETLEE
SVYSIAISLAQRYSVSRWEVFMTHLEFLFTDSGLSTLEIENRAQDLHLFETLKTDPEAFH
QHMVKYIYPTIGGFDHERLQYYFTLLENCGCADLGNCAIKPETHIRLLKKFKVVASGLNY
KKLTDENMSPLEALEPVLSSQNILSISKLVPKIPEKDGQMLSPSSLYTIWLQKLFWTGDP
HLIKQVPGSSPEWLHAYDVCMKYFDRLHPGDLITVVDAVTFSPKAVTKLSVEARKEMTRK
AIKTVKHFIEKPRKRNSEDEAQEAKDSKVTYADTLNHLEKSLAHLETLSHSFILSLKNSE
QETLQKYSHLYDLSRSEKEKLHDEAVAICLDGQPLAMIQQLLEVAVGPLDISPKDIVQSA
IMKIISALSGGSADLGGPRDPLKVLEGVVAAVHASVDKGEELVSPEDLLEWLRPFCADDA
WPVRPRIHVLQILGQSFHLTEEDSKLLVFFRTEAILKASWPQRQVDIADIENEENRYCLF
MELLESSHHEAEFQHLVLLLQAWPPMKSEYVITNNPWVRLATVMLTRCTMENKEGLGNEV
LKMCRSLYNTKQMLPAEGVKELCLLLLNQSLLLPSLKLLLESRDEHLHEMALEQITAVTT
VNDSNCDQELLSLLLDAKLLVKCVSTPFYPRIVDHLLASLQQGRWDAEELGRHLREAGHE
AEAGSLLLAVRGTHQAFRTFSTALRAAQHWV
NT seq 7116 nt   +upstreamnt  +downstreamnt
atggcggcccccgagtcagggccggctttgagtccaggcactgcagagggtgaggaggag
acgattctctatgacttgttggtcaacaccgagtggccaccggagactgaagtacagcct
agaggcaaccaaaaacatggtgcatcctttatcatcacgaaagcaattcgagatcgttta
ttatttttacgccaatacatctggtacagcccggcaccttttttgctccctgatggactg
gttcgcttggttaataaacagataaactggcatttggtacttgcaagcaatggaaagctt
ttggctgctgttcaagatcagtgtgtggaaatcaggtctgcaaaagatgattttacatcc
attattgggaaatgtcaagttccgaaagacccgaaaccccagtggagacgggtagcatgg
agttacgattgtaccctactggcctatgccgaaagcacaggaactgtgagggtgtttgat
ctcatgggaagtgaactctttgtcatttccccggcatctagttttataggtgacttaagc
tatgccattgctgggttgatatttttagaatataaagcaagtgcacagtggtctgcagaa
ctcctggtcatcaattaccgaggagaacttagaagttaccttgtaagtgttggaacaaat
cagagctaccaagaaagtcactgtttcagcttcagtagtcattatcctcatggaatcaac
acagctatttaccaccctggtcacagacttttacttgttggtggatgtgaaactgctgaa
gtaggcatgtcaaaagcttctagctgtggcctttctgcctggagagttctttcaggatca
ccgtattataagcaggttactaatggtggagacggggttactgcagtaccgaagacactg
ggattattaaggatgttaagtgtcaagttttacagtcgccagggacaagaacaggatgga
atttttaagatgagcctttctccagatgggatgctcctggcagccattcacttctcaggg
aaactgagcatctgggcgattccatctctgaagcaacaaggggaatggggtcaaaatgag
cagccaggctatgatgaccttaatcctgattggaggctctctactgagaagagaaaaaaa
atcaaagataaagagtccttttacccactgatagatgtcaattggtgggcagacagtgca
gtgactttagctcgatgctctggtgctttaactgtttcatctgtgaaaactttgaagaat
ttactgggaaaatcctgtgaatggtttgaaccatcacctcaagtcactgctacccatgat
gggggatttttaagtttggagtgtgagattaaacttgcccccaaacgatctcgtttggag
actagagctggagaagaagatgaaggagaagaggattctgattctgattatgaaatatct
gccaaggctcgctactttggttatataaaacagggcctttacttggtgactgaaatggag
cgatttgcaccaccacggaaacgcccacgaaccattactaaaaactaccgccttgtgagt
ttgcgctccacgacaccagaggaactttatcagaggaagattgaaagtgaagagtatgag
gaagccttgtccttggctcatacctacggcctggatactgaccttgtatatcagaggcag
tggaggaagtcagcggtcaacgttgcttcaattcagaattatttgagtaaaataaagaag
cgatcctgggttctccatgagtgtttggaaagagttcctgaaaatgtggatgctgcaaaa
gaactgcttcagtatggattaaaaggcacagacctggaggctcttttagcaatagggaaa
ggagcagatgatggcagatttacattacctggtgaaatagacattgacagtatctcctat
gaagagctttcaccacctgatgaagagcctgccaagaataaaaaggaaaaggagctcaag
aagagacaagaactactgaaattagtgaacttttccaagttgacactggaacaaaaggaa
ctttgccgttgtagacggaagttattaacctacttagatcgacttgcaacatatgaggaa
atcctaggagtgcctcatgcatctgaacagagatatgatgctgaattctttaagaaattc
agaaatcagaatattgttctctcagcaagaacttatgctcaggaaagtaatgtacaagcc
ctggaaattctgtttacttaccatggttccgacctgcttcctcatcgccttgcaattctg
tccaactttccagagaccacttctccacatgaatattctgttttgctgcccgaagcttgt
tttaacggtgactccctgatgatcattccttggcatgaacataaacaccgagctaaagat
tggtgcgaggagttggcttgcagaatggttgttgagccgaatctccaagatgaaagtgaa
ttcttgtatgctgcacagcctgagttactaaggttcaggatgacccagcttacggtggag
aaggttatggactggtatcagaccagagcagaggaaatagagcattatgctcggcaggtg
gactgtgcattgtcacttattcgacttgggatggagcggaatattcctggtttgctggtt
ctctgtgacaatttggttactctggaaacattggtttatgaagccaggtgtgatgtaact
ctaaccctgaaagaactccagcagatgaaagacattgaaaaactaagattactgatgaat
agttgttctgaggataaatatgtgacaagtgcctaccagtggatggttccctttcttcat
cgttgtgagaaacagtcgcctggtgtggctaatgagctattaaaagaatatttagtaact
ttagctaaaggggacttaaaatttcccctgaagatatttcagcattccaaaccagatctg
cagcaaaaaattattcctgatcaggaccaactgatggcaatagcactagagtgcatctat
acctgtgaacgaaatgatcaactctgtctttgctatgacctactagaatgtctgccagaa
agaggatatggtgataagacagaggcaaccacaaagcttcatgacatggtagaccaactg
gaacaaattctcagtgtgtcagagcttttggaaaaacatggactcgagaaaccaatttca
tttgttaaaaacactcaatctagctcagaagaggcacgcaagctgatggttagattgacg
aggcacactggccggaagcagcctcctgtcagtgagtctcattggagaacgttgctgcaa
gacatgttaactatgcagcagaatgtatacacatgtctagattctgatgcctgctatgag
atatttacagaaagccttctgtgctctagtcgccttgaaaacatccacctggctggacag
atgatgcactgcagtgcttgttcagaaaatcctccagctggtatagcccataaagggaaa
ccccactacagggtcagctacgaaaagagtattgacttggttttggctgccagcagagag
tacttcaattcttctaccaacctcactgatagctgcatggatctagccaggtgctgctta
caactgataacagacagaccccctgccattcaagaggagctagatcttatccaagccgtt
ggatgtcttgaagaatttggggtaaagatcctgcctttgcaagtgcgattgtgccctgat
cggatcagtctcatcaaggagtgtatttcccagtcccccacatgctataaacaatccacc
aagcttctgggccttgctgagctgctgagggttgcaggtgagaacccagaagaaaggcgg
ggacaggttctaatccttttagtggagcaggcacttcgcttccatgactacaaagcagcc
agtatgcattgtcaggagctgatggccacaggttatcctaaaagttgggatgtttgtagc
cagttaggacaatcagaaggttaccaggacttggccactcgtcaagagctcatggctttt
gctttgacacattgccctcctagcagcattgaacttcttttggcagctagcagctctctg
cagacagaaattctttatcaaagagtgaatttccagatccatcatgaaggaggggaaaat
atcagtgcttcaccattaactagtaaagcagtacaagaggatgaagtaggtgttccaggt
agcaattcagctgacctattgcgctggaccactgctaccaccatgaaagtcctttccaac
accacaaccaccaccaaagcggtgctgcaggccgtcagtgatgggcagtggtggaagaag
tctttaacttaccttcgaccccttcaggggcaaaaatgtggtggtgcatatcaaatcgga
actacagccaatgaagatctagagaaacaagggtgtcatcctttttatgaatctgtcatc
tcaaatccttttgtcgctgagtctgaagggacctatgacacctatcagcatgttccagtg
gaaagctttgcagaagtattgctgagaactggaaaattggcagaggctaaaaataaagga
gaagtatttccaacaactgaagttctcttgcaactagcaagtgaagccttgccaaatgac
atgaccttggctcttgcttaccttcttgccttaccacaagtgttagatgctaaccggtgc
tttgaaaagcagtccccctctgcattatctctccagctggcagcgtattactatagcctc
cagatctatgcccgattggccccatgtttcagggacaagtgccatcctctttacagggct
gatcccaaagaactaatcaagatggtcaccaggcatgtgactcgacatgagcacgaagcc
tggcctgaagaccttatttcactgaccaagcagttacactgctacaatgaacgtctcctg
gatttcactcaggcgcagatccttcagggccttcggaagggtgtggacgtgcagcggttt
actgcagatgaccagtataaaagggaaactatccttggtctggcagaaactctagaggaa
agcgtctacagcattgctatttctctggcacaacgttacagtgtctcccgctgggaagtt
tttatgacccatttggagttcctcttcacggacagtggtttgtccacactagaaattgaa
aatagagcccaagaccttcatctctttgagactttgaagactgatccagaagcctttcac
cagcacatggtcaagtatatttaccctactattggtggctttgatcacgaaaggctgcag
tattatttcactcttctggaaaactgtggctgtgcagatttggggaactgtgccattaaa
ccagaaacccacattcgactgctgaagaagtttaaggttgttgcatcaggtcttaattac
aaaaagctgacagatgaaaacatgagtcctcttgaagcattggagccagttctttcaagt
caaaatatcttgtctatttccaaacttgttcccaaaatccctgaaaaggatggacagatg
ctttccccaagctctctgtacaccatctggttacagaagttgttctggactggagaccct
catctcattaaacaagtcccaggctcttcaccggagtggcttcatgcctatgatgtctgc
atgaagtactttgatcgtctccacccaggtgacctcatcactgtggtagatgcagttaca
ttttctccaaaagctgtgaccaagctgtctgtggaagcccgtaaagagatgactagaaag
gctattaagacagtcaaacattttattgagaagccaaggaaaagaaactcagaagacgaa
gctcaagaagctaaggattctaaagttacctatgcagatactttgaatcatctggagaaa
tcacttgcccacctggaaaccctgagccacagcttcatcctttctctgaagaatagtgag
caggaaacactgcaaaaatacagtcacctctatgatctgtcccgatcagaaaaagagaaa
cttcatgatgaagctgtggctatttgtttagatggtcagcctctagcaatgattcagcag
ctgctagaggtggcagttggccctcttgacatctcacccaaggatatagtgcagagtgca
atcatgaaaataatttctgcattgagtggtggcagtgctgaccttggtgggccaagggac
ccactgaaggtcctggaaggtgttgttgcagcagtccacgccagtgtggacaagggtgag
gagctggtttcacctgaggacctgctggagtggctgcggcctttctgtgctgatgacgcc
tggccggtgcggccccgcattcacgtgctgcagattttggggcaatcatttcacctgact
gaggaggacagcaagctcctcgtgttctttagaactgaagccattctcaaagcctcctgg
ccccagagacaggtagacatagctgacattgagaatgaagagaaccgctactgtctattc
atggaactcctggaatctagtcaccacgaggctgaatttcagcacttggttttacttttg
caagcttggccacctatgaaaagtgaatatgtcataaccaataatccatgggtgagacta
gctacagtgatgctaaccagatgtacgatggagaacaaggaaggattggggaatgaagtt
ttgaaaatgtgtcgctctttgtataacaccaagcagatgctgcctgcagagggtgtgaag
gagctgtgtctgctgctgcttaaccagtccctcctgcttccatctctgaaacttctcctc
gagagccgagatgagcatctgcacgagatggcactggagcaaatcacggcagtcactacg
gtgaatgattccaattgtgaccaagaacttctttccctgctcctggatgccaagctgctg
gtgaagtgtgtctccactcccttctatccacgtattgttgaccacctcttggctagcctc
cagcaagggcgctgggatgcagaggagctgggcagacacctgcgggaggccggccatgaa
gccgaagccgggtctctccttctggccgtgagggggactcaccaggccttcagaaccttc
agtacagccctccgcgcagcacagcactgggtgtga

  All links  
Ontology (2)   
   KEGG BRITE (2)   
Disease (5)   
   KEGG DISEASE (2)   
   OMIM (3)   
Genome (1)   
   KEGG GENOME (1)   
Gene (23)   
   KEGG ORTHOLOGY (1)   
   RefGene (14)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (3)   
   OC (1)   
Protein sequence (20)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (17)   
DNA sequence (56)   
   RefSeq(nuc) (20)   
   GenBank (18)   
   EMBL (18)   
Protein domain (3)   
   Pfam (3)   
All databases (110)   

Download RDF
DBGET integrated database retrieval system