Homo sapiens (human): 166379
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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)
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SSDB
Ortholog
Paralog
GFIT
Motif
Pfam:
Cpn60_TCP1
Motif
Other DBs
NCBI-GeneID:
166379
NCBI-ProteinID:
NP_001171478
OMIM:
610683
HGNC:
26648
Ensembl:
ENSG00000181004
UniProt:
Q6ZW61
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All DBs
Position
4:122700442..122744939
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AA seq
710 aa
AA seq
DB search
MVMACRVVNKRRHMGLQQLSSFAETGRTFLGPLKSSKFIIDEECHESVLISSTVRLLESL
DLTSAVGQLLNEAVQAQNNTYRTGISTLLFLVGAWSSAVEECLHLGVPISIIVSVMSEGL
NFCSEEVVSLHVPVHNIFDCMDSTKTFSQLETFSVSLCPFLQVPSDTDLIEELHGLKDVA
SQTLTISNLSGRPLKSYELFKPQTKVEADNNTSRTLKNSLLADTCCRQSILIHSRHFNRT
DNTEGVSKPDGFQEHVTATHKTYRCNDLVELAVGLSHGDHSSMKLVEEAVQLQYQNACVQ
QGNCTKPFMFDISRIFTCCLPGLPETSSCVCPGYITVVSVSNNPVIKELQNQPVRIVLIE
GDLTENYRHLGFNKSANIKTVLDSMRLQEDSSEELWANHVLQVLIQFKVNLVLVQGNVSE
RLIEKCINSKRLVIGSVNGSVMQAFAEAAGAVQVAYITQVNEDCVGDGVCVTFWRSSPLD
VVDRNNRIAILLKTEGINLVTAVLTNPVTAQMQIKEDRFWTCAYRLYYALKEEKVFLGGG
AVEFLCLSCLHILAEQSLKKENHACSGWLHNTSSWLASSLAIYRPTVLKFLANGWQKYLS
TLLYNTANYSSEFEASTYIQHHLQNATDSGSPSSYILNEYSKLNSRIFNSDISNKLEQIP
RVYDVVTPKIEAWRRALDLVLLVLQTDSEIITGHGHTQINSQELTGFLFL
NT seq
2133 nt
NT seq
+upstream
nt +downstream
nt
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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