Homo sapiens (human): 582
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Entry
582 CDS
T01001
Symbol
BBS1, BBS2L2
Name
(RefSeq) Bardet-Biedl syndrome 1
KO
K16746
Bardet-Biedl syndrome 1 protein
Organism
hsa
Homo sapiens (human)
Disease
H00418
Bardet-Biedl syndrome
Brite
KEGG Orthology (KO) [BR:
hsa00001
]
09180 Brite Hierarchies
09183 Protein families: signaling and cellular processes
03037 Cilium and associated proteins [BR:
hsa03037
]
582 (BBS1)
Cilium and associated proteins [BR:
hsa03037
]
Primary cilia and associated proteins
BBSome
582 (BBS1)
BRITE hierarchy
SSDB
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
BBS1
BBS2_Mid
Motif
Other DBs
NCBI-GeneID:
582
NCBI-ProteinID:
NP_078925
OMIM:
209901
HGNC:
966
Ensembl:
ENSG00000174483
UniProt:
Q8NFJ9
Structure
PDB
LinkDB
All DBs
Position
11:66510635..66533598
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AA seq
593 aa
AA seq
DB search
MAAASSSDSDACGAESNEANSKWLDAHYDPMANIHTFSACLALADLHGDGEYKLVVGDLG
PGGQQPRLKVLKGPLVMTESPLPALPAAAATFLMEQHEPRTPALALASGPCVYVYKNLRP
YFKFSLPQLPPNPLEQDLWNQAKEDRIDPLTLKEMLESIRETAEEPLSIQSLRFLQLELS
EMEAFVNQHKSNSIKRQTVITTMTTLKKNLADEDAVSCLVLGTENKELLVLDPEAFTILA
KMSLPSVPVFLEVSGQFDVEFRLAAACRNGNIYILRRDSKHPKYCIELSAQPVGLIRVHK
VLVVGSTQDSLHGFTHKGKKLWTVQMPAAILTMNLLEQHSRGLQAVMAGLANGEVRIYRD
KALLNVIHTPDAVTSLCFGRYGREDNTLIMTTRGGGLIIKILKRTAVFVEGGSEVGPPPA
QAMKLNVPRKTRLYVDQTLREREAGTAMHRAFQTDLYLLRLRAARAYLQALESSLSPLST
TAREPLKLHAVVQGLGPTFKLTLHLQNTSTTRPVLGLLVCFLYNEALYSLPRAFFKVPLL
VPGLNYPLETFVESLSNKGISDIIKVLVLREGQSAPLLSAHVNMPGSEGLAAA
NT seq
1782 nt
NT seq
+upstream
nt +downstream
nt
atggccgctgcgtcctcatcggattccgacgcctgcggagctgagagcaatgaggccaat
tcgaagtggttggatgcgcactacgacccaatggccaatatccacaccttttctgcctgc
ctagcgctggcagatttacatggggatggggaatacaagctggtggtaggggaccttggc
cctggtgggcagcagccccgcctgaaggtgctcaaaggaccactggtgatgaccgaaagc
ccgctacctgctctgccagctgctgctgccaccttcctcatggagcaacatgagccccgg
accccagctctggcacttgcttcaggcccttgtgtctatgtgtataagaatctcagaccc
tacttcaagttcagcctgccccaattgcctccaaatcctctggaacaagacctttggaac
caggccaaagaggaccgaatcgaccccttaaccctgaaggagatgctggagagcatccgg
gagacggcagaggagcctttgtccatccagtcactcaggtttctgcagctggagctaagt
gaaatggaggcatttgtaaaccaacacaagtccaactccatcaagcggcagacagtcatc
accaccatgaccaccttgaagaagaacctggctgacgaggatgctgtgtcttgcctggtg
ctgggcaccgagaacaaggagctcctggtgcttgaccccgaggccttcaccattttagcc
aagatgagccttcccagcgtccccgtcttcctagaggtttctggccagtttgatgttgag
ttccggcttgccgcggcctgccgcaatggaaacatctatattctgagaagagactccaag
caccccaagtactgcatcgagctgagcgcccagcctgtgggacttatccgggtacacaag
gtcctagtggtgggcagcacccaagacagcctgcatggcttcacccacaaggggaagaag
ctgtggacagtgcagatgcccgcagccatcctgaccatgaacctcctggagcagcattcc
cggggcctgcaggccgtcatggctgggctggccaatggagaggtccgcatttatcgtgac
aaggccctgctcaatgtcatccacaccccggatgcagtgaccagcctttgctttggccgg
tacgggcgggaggacaacaccctcatcatgaccactcgaggtggtggcctgatcatcaag
atcctgaagcgtacagcagtgtttgtagagggaggaagtgaggtgggtcccccaccagcc
caggccatgaaactcaatgtgccccgaaagacccggctttacgtggatcagacactgcga
gagcgggaggctggcaccgccatgcaccgggccttccagacagacctatacctgctgcgc
ctacgtgctgcccgcgcctacctgcaggccctcgagtccagcctgagccccctgtccacg
acagcccgagagccactcaagctgcacgccgtggttcagggccttggccccacctttaag
ctcacacttcacctgcagaacacctcaacaacccgtcctgtcctggggctgctggtctgc
ttcctgtacaacgaggcgctctattccctgccccgggccttcttcaaggtacccttgctg
gtgccagggctcaactaccccctggagacctttgtggagagtctcagtaacaagggcatc
tcagacatcatcaaggtgctggtgcttcgagaaggccaaagtgcacccctgctgagtgcc
cacgtcaacatgcctgggagcgaggggctggcggccgcctga
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