KEGG   Homo sapiens (human): 582
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)
SSDB
Motif
Pfam: BBS1 BBS2_Mid
Other DBs
NCBI-GeneID: 582
NCBI-ProteinID: NP_078925
OMIM: 209901
HGNC: 966
Ensembl: ENSG00000174483
UniProt: Q8NFJ9
Structure
Position
11:66510635..66533598
AA seq 593 aa
MAAASSSDSDACGAESNEANSKWLDAHYDPMANIHTFSACLALADLHGDGEYKLVVGDLG
PGGQQPRLKVLKGPLVMTESPLPALPAAAATFLMEQHEPRTPALALASGPCVYVYKNLRP
YFKFSLPQLPPNPLEQDLWNQAKEDRIDPLTLKEMLESIRETAEEPLSIQSLRFLQLELS
EMEAFVNQHKSNSIKRQTVITTMTTLKKNLADEDAVSCLVLGTENKELLVLDPEAFTILA
KMSLPSVPVFLEVSGQFDVEFRLAAACRNGNIYILRRDSKHPKYCIELSAQPVGLIRVHK
VLVVGSTQDSLHGFTHKGKKLWTVQMPAAILTMNLLEQHSRGLQAVMAGLANGEVRIYRD
KALLNVIHTPDAVTSLCFGRYGREDNTLIMTTRGGGLIIKILKRTAVFVEGGSEVGPPPA
QAMKLNVPRKTRLYVDQTLREREAGTAMHRAFQTDLYLLRLRAARAYLQALESSLSPLST
TAREPLKLHAVVQGLGPTFKLTLHLQNTSTTRPVLGLLVCFLYNEALYSLPRAFFKVPLL
VPGLNYPLETFVESLSNKGISDIIKVLVLREGQSAPLLSAHVNMPGSEGLAAA
NT seq 1782 nt   +upstreamnt  +downstreamnt
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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Ontology (2)   
   KEGG BRITE (2)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Genome (1)   
   KEGG GENOME (1)   
Gene (12)   
   KEGG ORTHOLOGY (1)   
   RefGene (3)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (3)   
   OC (1)   
Protein sequence (3)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (1)   
DNA sequence (21)   
   RefSeq(nuc) (1)   
   GenBank (10)   
   EMBL (10)   
3D Structure (1)   
   PDB (1)   
Protein domain (2)   
   Pfam (2)   
All databases (45)   

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