Homo sapiens (human): 79738
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Entry
79738 CDS
T01001
Symbol
BBS10, C12orf58
Name
(RefSeq) Bardet-Biedl syndrome 10
KO
K19401
Bardet-Biedl syndrome 10 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
]
79738 (BBS10)
Cilium and associated proteins [BR:
hsa03037
]
Primary cilia and associated proteins
BBS-CCT complex
79738 (BBS10)
BRITE hierarchy
SSDB
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
Cpn60_TCP1
DUF1054
Motif
Other DBs
NCBI-GeneID:
79738
NCBI-ProteinID:
NP_078961
OMIM:
610148
HGNC:
26291
Ensembl:
ENSG00000179941
UniProt:
Q8TAM1
LinkDB
All DBs
Position
12:complement(76344474..76348415)
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AA seq
723 aa
AA seq
DB search
MLSSMAAAGSVKAALQVAEVLEAIVSCCVGPEGRQVLCTKPTGEVLLSRNGGRLLEALHL
EHPIARMIVDCVSSHLKKTGDGAKTFIIFLCHLLRGLHAITDREKDPLMCENIQTHGRHW
KNCSRWKFISQALLTFQTQILDGIMDQYLSRHFLSIFSSAKERTLCRSSLELLLEAYFCG
RVGRNNHKFISQLMCDYFFKCMTCKSGIGVFELVDDHFVELNVGVTGLPVSDSRIIAGLV
LQKDFSVYRPADGDMRMVIVTETIQPLFSTSGSEFILNSEAQFQTSQFWIMEKTKAIMKH
LHSQNVKLLISSVKQPDLVSYYAGVNGISVVECLSSEEVSLIRRIIGLSPFVPPQAFSQC
EIPNTALVKFCKPLILRSKRYVHLGLISTCAFIPHSIVLCGPVHGLIEQHEDALHGALKM
LRQLFKDLDLNYMTQTNDQNGTSSLFIYKNSGESYQAPDPGNGSIQRPYQDTVAENKDAL
EKTQTYLKVHSNLVIPDVELETYIPYSTPTLTPTDTFQTVETLTCLSLERNRLTDYYEPL
LKNNSTAYSTRGNRIEISYENLQVTNITRKGSMLPVSCKLPNMGTSQSYLSSSMPAGCVL
PVGGNFEILLHYYLLNYAKKCHQSEETMVSMIIANALLGIPKVLYKSKTGKYSFPHTYIR
AVHALQTNQPLVSSQTGLESVMGKYQLLTSVLQCLTKILTIDMVITVKRHPQKVHNQDSE
DEL
NT seq
2172 nt
NT seq
+upstream
nt +downstream
nt
atgttaagttctatggccgctgcagggtctgtgaaggcggcgttgcaggtggccgaggtg
ctggaagccatcgtgagctgctgcgtggggcccgagggacggcaagttttgtgtacgaag
cccactggcgaggtgcttctcagccggaatggaggccgcctcctggaggcgctacactta
gagcatcccatagccaggatgatagtggactgtgtttccagtcatctcaaaaaaacagga
gatggtgcaaaaacatttattatctttctttgccatttgcttagaggacttcatgcaatc
acagacagagaaaaggatcctttgatgtgtgaaaacattcaaacccatggaaggcattgg
aaaaattgttctcggtggaaatttatttcccaggctctcctaacgtttcagacacaaata
ttagacggtattatggaccagtacctaagtagacactttttgtctatcttttcgtctgct
aaagagagaacattgtgtaggagctctttagagttgctcttagaagcatacttttgtgga
agagtgggaagaaataatcataaatttatttcacagttgatgtgtgactactttttcaag
tgtatgacttgtaaaagtgggattggtgtatttgagttagtggatgaccattttgtagag
ttgaatgttggtgtcactggccttcctgtttcagattccaggatcatagctggtcttgtg
cttcagaaagatttttctgtgtaccgcccagcagatggtgacatgcgaatggtgatagta
acagaaaccattcagcctcttttttccacttctggatcagagtttattctaaattcagaa
gcacagtttcagacatctcaattttggattatggaaaagacaaaagcaataatgaaacat
ctacatagtcagaatgtaaaattgctcatatctagtgtgaaacaaccagatttagttagt
tattatgcaggggtgaatggcatatcagtggttgagtgtttatcatcagaagaagtttct
cttatccggaggatcattggtctttctccatttgtaccaccacaggccttttcgcagtgt
gaaatacctaacactgctttggtgaaattttgtaaacctcttatccttagatccaaaaga
tatgttcatctaggcttgataagcacatgtgcatttataccacactctatagttctttgt
ggaccagtgcatggtctcattgaacaacatgaggatgctttacatggagcacttaaaatg
cttcggcaattatttaaagaccttgatctaaattacatgacacaaaccaatgaccaaaat
ggcacttcaagtctttttatttataagaacagtggagaaagttatcaagcaccagatcct
ggtaatggctcaatacaaaggccttatcaggacacagttgcagagaacaaagatgcattg
gaaaaaactcaaacatatttaaaagtacattctaatttggtaattccagatgtagaatta
gaaacatatattccgtattcaacccccacactgacaccaacagatacattccaaacagtt
gaaacgctgacatgtttgtctttggaaagaaacaggctaactgattattatgaaccatta
ctcaagaacaattccactgcttattcaacaaggggaaatagaatagaaatttcttacgaa
aatttacaggtcacaaatattactagaaagggaagcatgttaccagtgagctgtaagtta
ccgaatatgggtacttcccagagttacctttcctcatctatgccagctggttgtgttttg
ccagtaggtggtaattttgagatcttgttacattactatcttctcaattatgccaaaaaa
tgccatcaatcagaagaaaccatggttagtatgataatagctaatgcacttttaggcatt
cccaaagtcctttataaatctaaaacaggaaagtacagctttccacatacatatataaga
gctgtccatgcactgcaaaccaatcaacccttggtaagcagtcagacaggtttggaatca
gtaatgggtaaataccagctactaacttcagttcttcagtgtttgacaaaaatattaacc
attgacatggtaatcactgttaagagacaccctcagaaagttcacaatcaagattcagaa
gatgaactataa
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