KEGG   Homo sapiens (human): 166379
Entry
166379            CDS       T01001                                 
Symbol
BBS12, C4orf24
Name
(RefSeq) Bardet-Biedl syndrome 12
  KO
K19402  Bardet-Biedl syndrome 12 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]
    166379 (BBS12)
Cilium and associated proteins [BR:hsa03037]
 Primary cilia and associated proteins
  BBS-CCT complex
   166379 (BBS12)
SSDB
Motif
Pfam: Cpn60_TCP1
Other DBs
NCBI-GeneID: 166379
NCBI-ProteinID: NP_001171478
OMIM: 610683
HGNC: 26648
Ensembl: ENSG00000181004
UniProt: Q6ZW61
Position
4:122700442..122744939
AA seq 710 aa
MVMACRVVNKRRHMGLQQLSSFAETGRTFLGPLKSSKFIIDEECHESVLISSTVRLLESL
DLTSAVGQLLNEAVQAQNNTYRTGISTLLFLVGAWSSAVEECLHLGVPISIIVSVMSEGL
NFCSEEVVSLHVPVHNIFDCMDSTKTFSQLETFSVSLCPFLQVPSDTDLIEELHGLKDVA
SQTLTISNLSGRPLKSYELFKPQTKVEADNNTSRTLKNSLLADTCCRQSILIHSRHFNRT
DNTEGVSKPDGFQEHVTATHKTYRCNDLVELAVGLSHGDHSSMKLVEEAVQLQYQNACVQ
QGNCTKPFMFDISRIFTCCLPGLPETSSCVCPGYITVVSVSNNPVIKELQNQPVRIVLIE
GDLTENYRHLGFNKSANIKTVLDSMRLQEDSSEELWANHVLQVLIQFKVNLVLVQGNVSE
RLIEKCINSKRLVIGSVNGSVMQAFAEAAGAVQVAYITQVNEDCVGDGVCVTFWRSSPLD
VVDRNNRIAILLKTEGINLVTAVLTNPVTAQMQIKEDRFWTCAYRLYYALKEEKVFLGGG
AVEFLCLSCLHILAEQSLKKENHACSGWLHNTSSWLASSLAIYRPTVLKFLANGWQKYLS
TLLYNTANYSSEFEASTYIQHHLQNATDSGSPSSYILNEYSKLNSRIFNSDISNKLEQIP
RVYDVVTPKIEAWRRALDLVLLVLQTDSEIITGHGHTQINSQELTGFLFL
NT seq 2133 nt   +upstreamnt  +downstreamnt
atggtgatggcttgcagagtcgtaaacaaaagaagacacatgggacttcaacaactttca
tcattcgcggaaacaggaagaactttcctaggcccactaaaatcatccaaatttattata
gatgaagaatgtcatgaaagtgtattaatcagttcaacagtaaggcttcttgaaagtttg
gatttaaccagtgcagtgggacaacttctcaatgaagcagttcaagcacaaaacaacaca
tatagaactggaatcagtactcttttgtttcttgttggtgcttggagcagtgcagttgaa
gaatgtcttcatcttggtgtccccatttccataatagtatcagtaatgtcagaaggctta
aacttttgtagtgaagaggtagtttctcttcatgtacctgttcacaatatatttgactgt
atggacagcacaaaaacattttctcaacttgaaacatttagtgtaagtttgtgtcctttt
ctacaggtcccttcagatactgatttgatagaggaattgcatggtctcaaagatgttgcc
tctcaaacactgaccatttccaacctttctgggagacctcttaaatcatatgaattattt
aaacctcagacaaaggttgaagcagataacaacacatcacgaactctgaaaaacagcctg
cttgcagatacctgctgcagacagtcaatactaatccacagtaggcattttaataggaca
gataatactgaaggggtaagcaaaccagatggatttcaagaacatgttacagctactcac
aaaacttacagatgtaatgatttggtagagttggcagtaggcttgagtcatggagatcac
agcagcatgaagttagtagaagaagcagtacagctgcaatatcagaatgcttgtgtgcaa
caaggcaactgtacaaaaccatttatgtttgacatttcaagaattttcacttgctgtcta
ccaggcttacctgaaacttcttcttgtgtttgtccaggatatatcactgttgtgtcagta
tctaataatcctgtgatcaaggaattgcagaatcagcctgtgcgaatagttctcattgag
ggtgacctcacagagaattaccgccacctgggatttaataagtctgcaaatattaaaaca
gtattagatagcatgcggcttcaagaagacagctcagaagaactgtgggcaaatcacgtg
ttacaggtgttaatccagttcaaggtgaaccttgtcctggtacaaggaaatgtgtccgaa
cgcttaattgaaaaatgtataaacagtaagcggttggtaatcggctcagtgaatggcagt
gtgatgcaggcttttgcagaggctgcaggagcagtacaggtggcctacattacacaagtg
aatgaagattgtgtgggcgacggggtctgcgtgaccttctggagaagcagccctttggat
gttgtagataggaacaacagaatcgcaatcttattaaaaacagaaggaattaatttggtt
acggccgtgctcactaacccagttactgcacagatgcaaatcaaagaagataggttctgg
acatgtgcctatcgtttgtattatgctctaaaagaggaaaaggtcttccttggaggtggt
gcagttgaatttttgtgtcttagctgtcttcatattcttgcagagcaatctctgaaaaaa
gaaaaccatgcctgctcagggtggctgcataatacttcctcttggctggcttcatctctg
gcaatatacagaccaactgtgcttaaattcctggcaaatggatggcagaaatacctttca
actctcctatataacactgccaattactcatcagaatttgaagccagcacatacattcaa
catcatctgcaaaatgccacagactctggctctccttcatcttacatcttgaatgaatat
agtaaactaaatagtagaatttttaattcagacatttcaaataaactggagcagattccg
agagtttatgacgttgttacaccaaagattgaggcgtggcgccgagcattggatttagta
ttgttagtacttcagacagacagtgaaataattactggacatggacacacacagataaat
tcacaggaattaacgggctttctatttttgtag

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Ontology (2)   
   KEGG BRITE (2)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Genome (1)   
   KEGG GENOME (1)   
Gene (29)   
   KEGG ORTHOLOGY (1)   
   RefGene (14)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (9)   
   OC (1)   
Protein sequence (6)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (4)   
DNA sequence (18)   
   RefSeq(nuc) (6)   
   GenBank (6)   
   EMBL (6)   
Protein domain (1)   
   Pfam (1)   
All databases (60)   

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