Homo sapiens (human): 27241
Help
Entry
27241 CDS
T01001
Symbol
BBS9, B1, C18, D1, PTHB1
Name
(RefSeq) Bardet-Biedl syndrome 9
KO
K19398
Bardet-Biedl syndrome 9 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
]
27241 (BBS9)
Cilium and associated proteins [BR:
hsa03037
]
Primary cilia and associated proteins
BBSome
27241 (BBS9)
BRITE hierarchy
SSDB
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
PHTB1_N
PHTB1_C
HbrB
Motif
Other DBs
NCBI-GeneID:
27241
NCBI-ProteinID:
NP_001334965
OMIM:
607968
HGNC:
30000
Ensembl:
ENSG00000122507
UniProt:
Q3SYG4
A0A090N8P4
Structure
PDB
LinkDB
All DBs
Position
7:33129285..33635767
Genome browser
AA seq
887 aa
AA seq
DB search
MSLFKARDWWSTILGDKEEFDQGCLCLANVDNSGNGQDKIIVGSFMGYLRIFSPHPAKTG
DGAQAEDLLLEVDLRDPVLQVEVGKFVSGTEMLHLAVLHSRKLCVYSVSGTLGNVEHGNQ
CQMKLMYEHNLQRTACNMTYGSFGGVKGRDLICIQSMDGMLMVFEQESYAFGRFLPGFLL
PGPLAYSSRTDSFLTVSSCQQVESYKYQVLAFATDADKRQETEQQKLGSGKRLVVDWTLN
IGEQALDICIVSFNQSASSVFVLGERNFFCLKDNGQIRFMKKLDWSPSCFLPYCSVSEGT
INTLIGNHNNMLHIYQDVTLKWATQLPHIPVAVRVGCLHDLKGVIVTLSDDGHLQCSYLG
TDPSLFQAPNVQSRELNYDELDVEMKELQKIIKDVNKSQGVWPMTEREDDLNVSVVVSPN
FDSVSQATDVEVGTDLVPSVTVKVTLQNRVILQKAKLSVYVQPPLELTCDQFTFEFMTPD
LTRTVSFSVYLKRSYTPSELEGNAVVSYSRPTDRNPDGIPRVIQCKFRLPLKLICLPGQP
SKTASHKITIDTNKSPVSLLSLFPGFASQSDDDQVNVMGFHFLGGARITVLASKTSQRYR
IQSEQFEDLWLITNELILRLQEYFEKQGVKDFACSFSGSIPLQEYFELIDHHFELRINGE
KLEELLSERAVQFRAIQRRLLARFKDKTPAPLQHLDTLLDGTYKQVIALADAVEENQGNL
FQSFTRLKSATHLVILLIALWQKLSADQVAILEAAFLPLQEDTQELGWEETVDAAISHLL
KTCLSKSSKEQALNLNSQLNIPKDTSQLKKHITLLCDRLSKGGRLCLSTDAAAPQTMVMP
GGCTTIPESDLEERSVEQDSTELFTNHRHLTAETPRPEVSPLQGVSE
NT seq
2664 nt
NT seq
+upstream
nt +downstream
nt
atgtctttatttaaagcccgtgattggtggtctactattctgggagataaagaagaattt
gatcaaggctgtttgtgtctggctaatgttgacaatagtggaaatggacaagataaaata
attgtgggtagctttatgggatacctaaggatctttagcccccatcctgcaaaaacagga
gatggagctcaagccgaagatttgcttctagaagtggatctacgagatccagtacttcaa
gtggaagtaggaaagtttgtttcaggtaccgaaatgctacatttggctgtgttacattct
agaaaactttgtgtctactctgtctcaggaaccttgggtaatgtggaacatgggaaccaa
tgtcagatgaaattgatgtatgaacataatcttcagagaacagcctgcaatatgacctat
ggatcatttggtggtgtaaaaggtcgagatttaatttgcatccagtctatggatgggatg
ctgatggtatttgagcaggagagctatgcttttggaagatttctccctggctttcttctg
cctggtcctcttgcctacagttcccgtacagattccttccttactgtctcttcctgccaa
caagtggaaagttataagtaccaggtacttgcttttgcaacagatgcagataaaaggcag
gagactgaacagcaaaaacttggttctggaaaaagactagttgtggattggactctaaat
attggagagcaagcccttgacatatgtattgtctctttcaatcagtcggcatcctctgtt
tttgttcttggtgagagaaactttttttgccttaaggataatggacaaattcgattcatg
aagaagcttgattggagcccaagttgttttctgccatattgctcagtttctgaaggaaca
ataaatactttgattggaaatcataataacatgctgcatatttatcaagatgtgacactg
aagtgggccacccaacttccccacattcctgtagcagtaagagtgggctgtttgcatgat
ttaaagggagtgatagtcactctgagtgatgatggtcacttgcagtgttcatacctgggg
acagatccttctctgttccaagctccaaacgttcaatctcgagaactaaactatgatgaa
cttgatgtagaaatgaaagaacttcagaaaatcatcaaagatgttaacaaatcacaaggt
gtttggcccatgactgagagagaagatgacttgaacgtttctgtcgtggtttctcctaac
tttgattcagtttctcaagcgaccgatgttgaggtgggaactgaccttgtcccttctgtc
acggtgaaggtcacactgcagaacagagtgatattgcaaaaagccaaattatcagtctac
gtgcaaccaccattagaattgacttgtgatcagttcacctttgaatttatgacaccagat
ttgactagaacagtaagcttttctgtttatctgaaaagaagttatacaccatcagaattg
gaaggaaatgctgttgtttcttattccagaccaacagatcgaaatcctgatggcattccg
cgagttatccaatgtaaatttagacttcccctaaagttaatttgcctaccaggtcagcct
tcaaaaactgcaagccacaaaattactattgataccaacaaatctccagtcagtcttctt
agtctcttcccaggttttgccagtcagtcagatgatgatcaggtgaatgtaatgggtttt
cacttcttaggaggtgctcgaattactgttcttgcttccaaaacttctcaacgatatcgc
attcagagtgaacaatttgaagatctttggctcataaccaatgagcttattcttcgcctt
caagaatattttgaaaaacagggagtcaaagattttgcatgttctttttcgggatctata
ccccttcaagaatattttgagttgattgatcatcattttgagctacggataaatggtgaa
aaattagaagaactcttatctgagagagctgtacaatttcgggccattcaacgccggcta
ctagcaagattcaaagataaaactcctgcccctcttcaacacctggacaccttgttagat
ggaacctacaagcaggtaattgctctagcagatgcagtggaggaaaaccaaggcaatctg
ttccagtcattcaccaggctgaagagtgccacccatttggtgattctgctgatcgcgctg
tggcagaagcttagtgctgaccaggttgctattctggaagcggcatttctgccgctacaa
gaagacactcaagaattgggctgggaagaaacggtggatgccgccatttcccacctgttg
aagacttgcctgtcgaagagttctaaggagcaggctttgaacctcaacagccagctgaac
atacccaaagacacaagccaactgaagaaacatatcaccttgctctgcgatagattatcc
aaaggtggccgtctctgcctaagtaccgatgcagcagccccacagaccatggtcatgcca
ggtggttgtactacaatcccagagtcagacctagaagaaagatcagtagaacaagactct
acagaactgtttaccaaccacagacatctcactgcagagacacccaggcctgaagtttca
cccctccaaggagtctcggaataa
DBGET
integrated database retrieval system