Homo sapiens (human): 987
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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)
BRITE hierarchy
SSDB
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
DUF4704
Beach
DUF1088
NBCH_WD40
PH_BEACH
WD40
Laminin_G_3
Neurobeachin
WD40_CDC20-Fz
WD40_Prp19
Beta-prop_EML_2
Beta-prop_WDR75_1st
Beta-prop_WDR90_POC16_2nd
WD40_MABP1-WDR62_2nd
WD40_WDHD1_1st
Beta-prop_Vps41
Beta-prop_IFT122_1st
SUKH_6
Motif
Other DBs
NCBI-GeneID:
987
NCBI-ProteinID:
NP_006717
OMIM:
606453
HGNC:
1742
Ensembl:
ENSG00000198589
UniProt:
P50851
Structure
PDB
PDBj
LinkDB
All DBs
Position
4:complement(150264435..151015727)
Genome browser
AA seq
2863 aa
AA seq
DB search
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
NT seq
+upstream
nt +downstream
nt
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
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integrated database retrieval system