KEGG   Homo sapiens (human): 987
Entry
987               CDS       T01001                                 
Symbol
LRBA, BGL, CDC4L, CVID8, LAB300, LBA, uc.147
Name
(RefSeq) LPS responsive beige-like anchor protein
  KO
K24181  lipopolysaccharide-responsive and beige-like anchor protein
Organism
hsa  Homo sapiens (human)
Disease
H00088  Common variable immunodeficiency
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    987 (LRBA)
Membrane trafficking [BR:hsa04131]
 Endosome - Lysosome transport
  Others
   Others
    987 (LRBA)
 Endosome - Golgi transport
    987 (LRBA)
 Autophagy
  Autophagosome formation proteins
   Atg8 conjugation proteins
    987 (LRBA)
SSDB
Motif
Pfam: DUF4704 Beach DUF1088 NBCH_WD40 PH_BEACH WD40 Laminin_G_3 Neurobeachin SUKH_6
Other DBs
NCBI-GeneID: 987
NCBI-ProteinID: NP_006717
OMIM: 606453
HGNC: 1742
Ensembl: ENSG00000198589
UniProt: P50851
Structure
Position
4:complement(150264435..151015727)
AA seq 2863 aa
MASEDNRVPSPPPTGDDGGGGGREETPTEGGALSLKPGLPIRGIRMKFAVLTGLVEVGEV
SNRDIVETVFNLLVGGQFDLEMNFIIQEGESINCMVDLLEKCDITCQAEVWSMFTAILKK
SIRNLQVCTEVGLVEKVLGKIEKVDNMIADLLVDMLGVLASYNLTVRELKLFFSKLQGDK
GRWPPHAGKLLSVLKHMPQKYGPDAFFNFPGKSAAAIALPPIAKWPYQNGFTFHTWLRMD
PVNNINVDKDKPYLYCFRTSKGLGYSAHFVGGCLIVTSIKSKGKGFQHCVKFDFKPQKWY
MVTIVHIYNRWKNSELRCYVNGELASYGEITWFVNTSDTFDKCFLGSSETADANRVFCGQ
MTAVYLFSEALNAAQIFAIYQLGLGYKGTFKFKAESDLFLAEHHKLLLYDGKLSSAIAFT
YNPRATDAQLCLESSPKDNPSIFVHSPHALMLQDVKAVLTHSIQSAMHSIGGVQVLFPLF
AQLDYRQYLSDEIDLTICSTLLAFIMELLKNSIAMQEQMLACKGFLVIGYSLEKSSKSHV
SRAVLELCLAFSKYLSNLQNGMPLLKQLCDHVLLNPAIWIHTPAKVQLMLYTYLSTEFIG
TVNIYNTIRRVGTVLLIMHTLKYYYWAVNPQDRSGITPKGLDGPRPNQKEMLSLRAFLLM
FIKQLVMKDSGVKEDELQAILNYLLTMHEDDNLMDVLQLLVALMSEHPNSMIPAFDQRNG
LRVIYKLLASKSEGIRVQALKAMGYFLKHLAPKRKAEVMLGHGLFSLLAERLMLQTNLIT
MTTYNVLFEILIEQIGTQVIHKQHPDPDSSVKIQNPQILKVIATLLRNSPQCPESMEVRR
AFLSDMIKLFNNSRENRRSLLQCSVWQEWMLSLCYFNPKNSDEQKITEMVYAIFRILLYH
AVKYEWGGWRVWVDTLSITHSKVTFEIHKENLANIFREQQGKVDEEIGLCSSTSVQAASG
IRRDINVSVGSQQPDTKDSPVCPHFTTNGNENSSIEKTSSLESASNIELQTTNTSYEEMK
AEQENQELPDEGTLEETLTNETRNADDLEVSSDIIEAVAISSNSFITTGKDSMTVSEVTA
SISSPSEEDASEMPEFLDKSIVEEEEDDDYVELKVEGSPTEEANLPTELQDNSLSPAASE
AGEKLDMFGNDDKLIFQEGKPVTEKQTDTETQDSKDSGIQTMTASGSSAMSPETTVSQIA
VESDLGQMLEEGKKATNLTRETKLINDCHGSVSEASSEQKIAKLDVSNVATDTERLELKA
SPNVEAPQPHRHVLEISRQHEQPGQGIAPDAVNGQRRDSRSTVFRIPEFNWSQMHQRLLT
DLLFSIETDIQMWRSHSTKTVMDFVNSSDNVIFVHNTIHLISQVMDNMVMACGGILPLLS
AATSATHELENIEPTQGLSIEASVTFLQRLISLVDVLIFASSLGFTEIEAEKSMSSGGIL
RQCLRLVCAVAVRNCLECQQHSQLKTRGDKALKPMHSLIPLGKSAAKSPVDIVTGGISPV
RDLDRLLQDMDINRLRAVVFRDIEDSKQAQFLALAVVYFISVLMVSKYRDILEPQNERHS
QSCTETGSENENVSLSEITPAAFSTLTTASVEESESTSSARRRDSGIGEETATGLGSHVE
VTPHTAPPGVSAGPDAISEVLSTLSLEVNKSPETKNDRGNDLDTKATPSVSVSKNVNVKD
ILRSLVNIPADGVTVDPALLPPACLGALGDLSVEQPVQFRSFDRSVIVAAKKSAVSPSTF
NTSIPTNAVSVVSSVDSAQASDMGGESPGSRSSNAKLPSVPTVDSVSQDPVSNMSITERL
EHALEKAAPLLREIFVDFAPFLSRTLLGSHGQELLIEGTSLVCMKSSSSVVELVMLLCSQ
EWQNSIQKNAGLAFIELVNEGRLLSQTMKDHLVRVANEAEFILSRQRAEDIHRHAEFESL
CAQYSADKREDEKMCDHLIRAAKYRDHVTATQLIQKIINILTDKHGAWGNSAVSRPLEFW
RLDYWEDDLRRRRRFVRNPLGSTHPEATLKTAVEHVCIFKLRENSKATDEDILAKGKQSI
RSQALGNQNSENEILLEGDDDTLSSVDEKDLENLAGPVSLSTPAQLVAPSVVVKGTLSVT
SSELYFEVDEEDPNFKKIDPKILAYTEGLHGKWLFTEIRSIFSRRYLLQNTALEIFMANR
VAVMFNFPDPATVKKVVNYLPRVGVGTSFGLPQTRRISLASPRQLFKASNMTQRWQHREI
SNFEYLMFLNTIAGRSYNDLNQYPVFPWVITNYESEELDLTLPTNFRDLSKPIGALNPKR
AAFFAERYESWEDDQVPKFHYGTHYSTASFVLAWLLRIEPFTTYFLNLQGGKFDHADRTF
SSISRAWRNSQRDTSDIKELIPEFYYLPEMFVNFNNYNLGVMDDGTVVSDVELPPWAKTS
EEFVHINRLALESEFVSCQLHQWIDLIFGYKQQGPEAVRALNVFYYLTYEGAVNLNSITD
PVLREAVEAQIRSFGQTPSQLLIEPHPPRGSAMQVSPLMFTDKAQQDVIMVLKFPSNSPV
THVAANTQPGLATPAVITVTANRLFAVNKWHNLPAHQGAVQDQPYQLPVEIDPLIASNTG
MHRRQITDLLDQSIQVHSQCFVITSDNRYILVCGFWDKSFRVYSTDTGRLIQVVFGHWDV
VTCLARSESYIGGNCYILSGSRDATLLLWYWNGKCSGIGDNPGSETAAPRAILTGHDYEV
TCAAVCAELGLVLSGSQEGPCLIHSMNGDLLRTLEGPENCLKPKLIQASREGHCVIFYEN
GLFCTFSVNGKLQATMETDDNIRAIQLSRDGQYLLTGGDRGVVVVRQVSDLKQLFAYPGC
DAGIRAMALSYDQRCIISGMASGSIVLFYNDFNRWHHEYQTRY
NT seq 8592 nt   +upstreamnt  +downstreamnt
atggctagcgaagacaatcgtgtcccttccccgccaccaacaggtgatgacgggggaggt
ggagggagagaagaaacccctactgaagggggtgcattgtctctgaaaccagggctcccc
atcaggggcatcagaatgaaatttgccgtgttgaccggtttggttgaagttggagaagta
tccaatagggatattgtagaaactgtctttaacctgttggtaggaggacagtttgatctg
gaaatgaatttcattatccaagaaggtgagagtattaactgcatggtggacctactggaa
aaatgtgacattacgtgccaagcagaagtctggagcatgtttacagccattctgaagaaa
agcatacggaatcttcaagtctgcactgaagtaggccttgttgaaaaagtgcttgggaaa
attgaaaaagttgacaatatgatagcagatcttttggttgacatgttgggagtgctggct
agctataatttgacagttcgcgagctaaagcttttcttcagtaaacttcaaggagataaa
ggacgatggcctccacatgctgggaagttgctgtctgtgttaaagcatatgcctcagaag
tatggtcctgatgccttttttaactttccaggaaagagtgctgcagctattgcattacct
cctatagccaaatggccataccagaatggttttacatttcatacatggcttagaatggat
cctgtaaataacatcaatgtagataaggataaaccatatttgtattgtttcagaaccagc
aaaggtcttggctattctgctcattttgttggaggctgtttgattgtaacatcaataaag
tcaaaaggaaaaggctttcaacactgtgtgaaatttgatttcaagccacaaaagtggtat
atggttaccatagtacacatctataaccgatggaagaatagtgaacttcgatgttatgtg
aatggtgagctggcttcctatggagagataacatggtttgtcaacactagcgataccttt
gacaaatgtttcctgggctcatcagaaacagcagatgctaatagagtattctgtggtcag
atgactgcagtttaccttttcagtgaagctctaaatgcagctcagatatttgctatttat
cagttgggcctgggatacaagggtacatttaaattcaaagcagaaagcgaccttttcctt
gctgagcatcacaaacttttattgtacgatgggaaactctctagtgccattgcattcacg
tacaatccacgggctacagatgcccagctttgtcttgaatcatctcctaaggacaaccct
tcaatttttgttcattcaccacatgcactcatgctccaggatgtaaaggcagttttaaca
cattccatccaaagtgcaatgcattcaattggaggagtacaagtactatttccacttttt
gcacagttggattacaggcaatatttgtctgatgagattgatttgactatatgttcaacc
ttgctggcctttatcatggaattgttgaagaactcaattgctatgcaggaacagatgctt
gcctgtaagggcttcttggtaataggatatagccttgaaaagtcttccaaatctcatgtt
agcagagcagtacttgaactttgccttgcattttcaaaatatctgagtaatctgcagaat
gggatgcccctgctcaagcaattgtgtgatcacgttcttcttaatcctgccatatggatt
cataccccagccaaggttcaactgatgctctatacttatctgtccacggaattcattggt
acagtcaacatatataacaccattcggagagttggaacagtgcttctcatcatgcacacg
ctgaagtactactactgggcagtgaatcctcaggatcgaagtggtatcaccccaaaagga
ttagatggaccgcgacctaatcaaaaagaaatgctttctctacgagcattcttgttgatg
ttcattaagcaattagtgatgaaggattctggagtaaaggaagatgaattacaggccatt
cttaattacctactgactatgcatgaggatgacaatctaatggatgtcctacagctgctt
gttgcattaatgtcagaacaccctaactctatgattcctgcttttgaccaaaggaatggg
ttacgtgttatctacaaacttctggcatcgaaaagtgaaggaatcagggtacaagctctt
aaggcaatgggttattttttaaaacatctggccccaaagaggaaagcagaagtcatgctt
ggacatggattgttttcattgctagctgaaaggctcatgcttcagacaaatttaatcaca
atgaccacatataatgtgctgtttgagattcttatagaacagattggtactcaggtgata
cataaacagcatccagatcctgattcttcagtgaagatacaaaaccctcagatactaaaa
gtaattgcgaccctacttcgaaattctccccagtgcccagagagcatggaggttcgcaga
gcctttctttctgacatgattaaactttttaataacagtagagaaaacaggaggagcttg
ctacaatgctctgtgtggcaagaatggatgctttctctctgctattttaatcctaagaat
tcagatgagcaaaagataacagaaatggtatacgccatattcagaatcctgctttaccat
gcagtcaaatatgagtggggtggctggcgtgtatgggtagacactttatcaatcactcat
tcaaaggtcacttttgaaatacacaaagaaaaccttgccaatatatttagggaacagcaa
ggaaaagttgatgaagaaatagggctgtgttcttcaacttcagttcaagcagcctctggc
attagaagggatattaatgtttcagtaggatcccagcaaccagatacgaaggattctcct
gtctgtcctcatttcaccacaaatggtaatgaaaattcaagtatagagaagacaagttca
ctagaatctgcatctaatattgaactgcaaactactaatacatcttatgaagaaatgaaa
gctgagcaagaaaatcaggagttaccagatgaaggcactttggaagaaacactgacaaat
gagacaaggaatgcagatgatttagaagtatcttctgacataatagaagctgtggctatt
tcctctaattcttttataacaactggcaaagattcaatgactgtcagtgaagtaactgct
tctataagttctccttcagaagaggatgcctcagagatgccagaattcttggataaatct
atagtagaggaagaggaagatgatgattatgtggaactgaaagtagaaggcagtcctact
gaggaagctaatctacccacagagctccaagataacagtttgtctccagctgcatctgaa
gccggtgaaaaactggacatgtttggtaatgatgacaaattaatatttcaagaaggaaaa
cctgttactgaaaagcaaactgatactgaaactcaagattctaaagattctggaattcag
actatgacagcatcagggtcttcagctatgtcaccagaaactactgtttcccaaatagct
gtagaatcagaccttggtcagatgctggaggaagggaagaaagcaactaacctcactaga
gaaaccaaattaattaatgattgtcatggtagtgtctctgaggcttcttctgagcaaaag
attgcgaagttggatgtttccaatgttgctacagatactgagaggctggagttgaaggcc
agtcccaacgtggaagcacctcaacctcatcgacatgtgcttgagatatcaaggcaacat
gagcagccagggcaaggaatagcaccagatgcagttaatggacaaaggagggattccaga
tctactgtgtttcgtattcctgagttcaactggtctcagatgcatcaacgtttgctcact
gatctattattttcaatagaaacagatatacagatgtggagaagccattcaacaaagaca
gttatggacttcgtgaatagcagtgataatgtcatctttgtacacaacacaattcatctc
atctctcaagtgatggacaatatggtcatggcttgtgggggtatactgccattgctttca
gctgctacatcggctacacatgaactggaaaatattgaacctactcaaggcctttcaata
gaagcctctgtgacatttttgcagaggctaattagccttgtggatgtgcttatatttgca
agttctcttggctttactgaaattgaagctgaaaaaagtatgtcatctggaggaattttg
cggcagtgtctccgactagtttgtgcagtcgcagtaaggaattgcttggagtgtcaacag
cattcacaactgaaaactaggggagataaagccttgaaaccaatgcatagccttattcct
ttagggaaatctgcagcgaagagcccagtggacattgtgactggcggtatatctccagta
agagatcttgacaggcttctacaggacatggatattaatcggcttagggcagttgttttc
agagacatagaggatagcaaacaagctcaatttttagccttggcagtagtatactttatc
tctgttcttatggtctccaagtacagagacattttggaaccccaaaatgaaaggcatagc
cagtcatgtacagaaactggcagtgaaaatgagaatgtatcactctctgaaatcacacca
gcagcattcagcactttaactacggcatcagtggaagaatctgaaagcacatcatctgct
cgaaggagggactcaggcattggggaagaaacagccactggtttaggaagccatgtggaa
gtaactcctcacacagcacctcctggtgtcagtgcaggcccagatgcaatcagcgaggtg
ctatctactctttctttagaagtcaataagtctccggaaaccaaaaatgatagaggaaat
gacttggacactaaggctacaccgtcagtttcagtttcaaaaaacgtcaatgtgaaagac
attctccgaagcttggttaacataccagcagatggagtcacagtggatcctgcccttctg
ccaccagcctgccttggagcccttggtgatctatctgtggaacaacccgtgcagttcaga
tcttttgacagaagtgtcattgttgcagcaaaaaagtcagcagtctcaccttccaccttt
aatacaagcatacctaccaatgctgtcagtgtggtttcctcagtagattcagcccaagcc
tcagatatgggaggagaatcaccaggcagtagatcatctaatgcaaaattgccctcagtt
ccaacagttgattcagtttcacaagatccggtttcaaatatgagtattacagagaggctt
gaacacgctttggaaaaggcagctcctctccttcgtgagatttttgtggattttgcacct
tttctttctcggacacttttgggtagccatggacaagaactgcttatagaaggaacaagt
ctggtttgcatgaagtcgagtagttcagttgtggaattggttatgctactgtgttctcag
gagtggcaaaattctattcagaagaatgcaggccttgcttttatcgaacttgtcaatgaa
ggaaggttgcttagccagacaatgaaggatcatctagtaagagtagcaaatgaagctgaa
tttatcctgagcaggcagagagcagaagatattcacagacatgcggaatttgagtcactg
tgtgcccagtattctgcagacaaacgagaagatgagaagatgtgtgatcatttgataaga
gcagcaaaatatcgtgaccacgtgacagcaactcaactaatccagaaaattatcaacatt
ctcacagacaagcatggagcctggggaaattctgcagtgagtcgtcctcttgagttctgg
cgccttgactactgggaagatgacttgcggcgccggcgacgatttgtgcgtaaccctcta
ggatcgacacatcctgaagcgacactaaaaacagccgtggaacatgtgtgcatttttaaa
ttgagagagaacagcaaagccacagatgaagatatccttgctaaaggaaaacagtccatc
aggagtcaggctttaggaaatcagaactcagaaaacgagatcctcctggaaggcgatgat
gatactctgtcatccgtggatgagaaagatttagagaatcttgccggtcctgttagcctg
agcacaccagctcagcttgtggccccctctgttgtagtaaagggcactctttctgtcacc
tcctccgaactctattttgaggtggatgaagaggatcctaacttcaaaaaaatcgacccc
aagatcttggcatatacagaagggctgcatggaaaatggctgttcacagagatacgatca
atcttttctcgtcgttatcttttgcaaaatacagccctggagatctttatggcaaacaga
gttgctgtgatgttcaacttcccagaccctgcaacagtaaagaaagtggttaactatcta
cctcgtgttggcgttggaacaagttttggattgcctcaaaccagacgtatttcattagct
agtccacgtcagctttttaaggcttctaatatgacccagcgatggcaacacagagagata
tctaattttgagtacttgatgtttctcaacacgatagcaggacggagttataatgactta
aatcagtatccagtgtttccttgggtcatcactaattatgaatcagaagaactggatctt
accttgcccaccaacttcagagatttgtccaagccaataggagctctgaacccaaaaaga
gcagcattcttcgctgagcgttatgaatcatgggaagatgatcaagttccaaagtttcac
tatggtactcattactcaactgcaagttttgttcttgcatggctgctaagaatagaaccc
tttacaacttatttcctaaatttgcaaggaggcaaatttgatcatgcagatcgaactttt
tcatcaatttccagagcttggcgaaacagtcagcgtgatacctctgatattaaggagttg
atccctgaattttattatctccctgagatgtttgtcaacttcaataattataatcttgga
gtgatggatgatgggacagtagtgtctgatgtcgaacttcctccttgggccaaaacctca
gaagaatttgttcacataaacagattggccctggagagtgaatttgtttcctgccagctt
caccaatggattgatctcatttttggctataaacagcaaggaccagaagctgtccgagcc
ctcaatgtgttctattacttgacctatgaaggagctgtcaatctgaattcaataactgat
cctgtgttgagagaggctgttgaagctcaaatccgaagttttggacagactccttctcaa
ctactcatagagccccatcctcccagaggttctgccatgcaagtgagtccattgatgttc
acagacaaagcccagcaggatgttatcatggtcctcaagtttccctccaactcccctgtt
actcacgtggcagccaacacccagcctggtttggcaactcccgctgtgatcacagtcact
gctaacaggttatttgcggtgaacaaatggcacaaccttcctgctcatcaaggtgctgta
caagaccagccataccagctgccagtggaaatcgatcctctcatagccagcaatacagga
atgcacaggaggcaaatcactgaccttttagaccaaagtattcaagtgcattcccagtgc
tttgtcatcacttcagacaaccgctatattctcgtctgtggcttctgggataaaagtttc
agagtctattctacagacacaggaagattgatccaagtggtgtttggccattgggatgtc
gtcacttgccttgctcgttctgagtcatatattgggggaaattgctacattctctcaggg
tcacgtgatgcaactcttttgctgtggtattggaatggaaaatgcagtgggattggagat
aacccaggcagtgagactgctgctcctcgggccattttgaccggccatgactatgaggtc
acatgtgctgcggtgtgtgcggagctaggcctggtgttgagtggttcacaagaaggacca
tgtctcatacattccatgaatggagacttgttgaggaccttggagggtcctgaaaactgc
ctgaaaccaaaactcattcaggcttcaagagagggtcattgtgtcatattctatgaaaac
ggcctcttctgtacattcagtgtgaatggaaaactccaggccacgatggaaacagatgat
aacataagagccatccagctgagccgagatgggcagtacctgctcacaggaggagacaga
ggagtggtcgtggtccggcaggtgtcggacctcaagcagctctttgcctatccaggatgt
gacgctggaatccgggccatggcgctgtcttacgaccagaggtgcatcatttctggcatg
gcttcaggaagcattgtgctattttacaacgactttaaccggtggcatcatgaataccaa
acccgctactga

  All links  
Ontology (2)   
   KEGG BRITE (2)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Genome (1)   
   KEGG GENOME (1)   
Gene (24)   
   KEGG ORTHOLOGY (1)   
   RefGene (17)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (1)   
   OC (1)   
Protein sequence (20)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (18)   
DNA sequence (50)   
   RefSeq(nuc) (18)   
   GenBank (16)   
   EMBL (16)   
3D Structure (1)   
   PDB (1)   
Protein domain (9)   
   Pfam (9)   
All databases (110)   

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