KEGG   Homo sapiens (human): 27241
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)
SSDB
Motif
Pfam: PHTB1_N PHTB1_C HbrB
Other DBs
NCBI-GeneID: 27241
NCBI-ProteinID: NP_001334965
OMIM: 607968
HGNC: 30000
Ensembl: ENSG00000122507
UniProt: Q3SYG4 A0A090N8P4
Structure
Position
7:33129285..33635767
AA seq 887 aa
MSLFKARDWWSTILGDKEEFDQGCLCLANVDNSGNGQDKIIVGSFMGYLRIFSPHPAKTG
DGAQAEDLLLEVDLRDPVLQVEVGKFVSGTEMLHLAVLHSRKLCVYSVSGTLGNVEHGNQ
CQMKLMYEHNLQRTACNMTYGSFGGVKGRDLICIQSMDGMLMVFEQESYAFGRFLPGFLL
PGPLAYSSRTDSFLTVSSCQQVESYKYQVLAFATDADKRQETEQQKLGSGKRLVVDWTLN
IGEQALDICIVSFNQSASSVFVLGERNFFCLKDNGQIRFMKKLDWSPSCFLPYCSVSEGT
INTLIGNHNNMLHIYQDVTLKWATQLPHIPVAVRVGCLHDLKGVIVTLSDDGHLQCSYLG
TDPSLFQAPNVQSRELNYDELDVEMKELQKIIKDVNKSQGVWPMTEREDDLNVSVVVSPN
FDSVSQATDVEVGTDLVPSVTVKVTLQNRVILQKAKLSVYVQPPLELTCDQFTFEFMTPD
LTRTVSFSVYLKRSYTPSELEGNAVVSYSRPTDRNPDGIPRVIQCKFRLPLKLICLPGQP
SKTASHKITIDTNKSPVSLLSLFPGFASQSDDDQVNVMGFHFLGGARITVLASKTSQRYR
IQSEQFEDLWLITNELILRLQEYFEKQGVKDFACSFSGSIPLQEYFELIDHHFELRINGE
KLEELLSERAVQFRAIQRRLLARFKDKTPAPLQHLDTLLDGTYKQVIALADAVEENQGNL
FQSFTRLKSATHLVILLIALWQKLSADQVAILEAAFLPLQEDTQELGWEETVDAAISHLL
KTCLSKSSKEQALNLNSQLNIPKDTSQLKKHITLLCDRLSKGGRLCLSTDAAAPQTMVMP
GGCTTIPESDLEERSVEQDSTELFTNHRHLTAETPRPEVSPLQGVSE
NT seq 2664 nt   +upstreamnt  +downstreamnt
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

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Ontology (2)   
   KEGG BRITE (2)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Genome (1)   
   KEGG GENOME (1)   
Gene (10)   
   KEGG ORTHOLOGY (1)   
   RefGene (4)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   OC (1)   
Protein sequence (21)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (18)   
DNA sequence (57)   
   RefSeq(nuc) (21)   
   GenBank (18)   
   EMBL (18)   
3D Structure (2)   
   PDB (2)   
Protein domain (3)   
   Pfam (3)   
All databases (99)   

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