KEGG   Homo sapiens (human): 585Help
Entry
585               CDS       T01001                                 

Gene name
BBS4
Definition
(RefSeq) Bardet-Biedl syndrome 4
  KO
K16531  Bardet-Biedl syndrome 4 protein
Organism
hsa  Homo sapiens (human)
Disease
H00418  Bardet-Biedl syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03036 Chromosome and associated proteins [BR:hsa03036]
    585 (BBS4)
Chromosome and associated proteins [BR:hsa03036]
 Eukaryotic Type
  Centrosome formation and ciliogenesis proteins
   Pericentriolar materials (PCM)
    Centriolar satellite
     585 (BBS4)
   BBSome complex
    585 (BBS4)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: TPR_2 TPR_1 TPR_8 TPR_11 TPR_19 TPR_12 TPR_16 TPR_14 TPR_17 TPR_9 ANAPC3 TPR_7 Wzy_C_2 PknG_TPR TPR_15 NARP1 TPR_20 TPR_MalT DUF3808 ChAPs Mu-like_Pro
Motif
Other DBs
NCBI-GeneID: 585
NCBI-ProteinID: NP_149017
OMIM: 600374
HGNC: 969
Ensembl: ENSG00000140463
Vega: OTTHUMG00000133510
Pharos: Q96RK4(Tbio)
UniProt: Q96RK4 A0A0S2Z3A9
Position
15q24.1
AA seq 519 aa AA seqDB search
MAEERVATRTQFPVSTESQKPRQKKAPEFPILEKQNWLIHLHYIRKDYEACKAVIKEQLQ
ETQGLCEYAIYVQALIFRLEGNIQESLELFQTCAVLSPQSADNLKQVARSLFLLGKHKAA
IEVYNEAAKLNQKDWEISHNLGVCYIYLKQFNKAQDQLHNALNLNRHDLTYIMLGKIHLL
EGDLDKAIEVYKKAVEFSPENTELLTTLGLLYLQLGIYQKAFEHLGNALTYDPTNYKAIL
AAGSMMQTHGDFDVALTKYRVVACAVPESPPLWNNIGMCFFGKKKYVAAISCLKRANYLA
PFDWKILYNLGLVHLTMQQYASAFHFLSAAINFQPKMGELYMLLAVALTNLEDIENAKRA
YAEAVHLDKCNPLVNLNYAVLLYNQGEKKNALAQYQEMEKKVSLLKDNSSLEFDSEMVEM
AQKLGAALQVGEALVWTKPVKDPKSKHQTTSTSKPASFQQPLGSNQALGQAMSSAAAYRT
LPSGAGGTSQFTKPPSLPLEPEPAVESSPTETSEQIREK
NT seq 1560 nt NT seq  +upstreamnt  +downstreamnt
atggctgaggagagagtcgcgacgagaactcaatttcctgtatctactgagtctcaaaaa
ccccggcagaaaaaagctccagagtttcctattttggagaagcagaactggttgattcat
cttcattatatccggaaagattatgaagcctgcaaggctgttatcaaagaacagcttcaa
gagactcagggattgtgtgaatatgctatctatgtccaagcattgatatttcgcctagaa
ggaaatatccaagaatccctagaactcttccagacatgtgcagttcttagtcctcagagt
gctgataacctcaagcaggtggccagatctttatttcttttgggaaaacataaagctgcc
attgaagtatataatgaagcagctaaactcaaccagaaagattgggagatcagccataac
ctaggagtttgctacatatacctgaagcagttcaacaaggcacaagaccagttgcacaat
gccctgaatcttaataggcacgatctgacttatataatgctggggaagatccacttgctg
gagggagacttggacaaggccattgaagtctacaagaaagcagtggagttctcaccagaa
aatacagagcttcttacaactttaggattactctacttacagctcggcatttaccagaag
gcatttgaacatcttggcaatgcactgacttatgaccctaccaactacaaggccatcttg
gcagcaggcagcatgatgcagacccacggggactttgatgttgccctcaccaaatacaga
gttgtggcttgtgctgttccagaaagtcctccactctggaataacattggaatgtgtttc
tttggcaagaagaaatatgtggcggccatcagctgcctgaaacgagccaactacttggca
ccctttgattggaagattctgtataatttgggccttgtccatttgaccatgcagcagtat
gcatcagcttttcattttctcagtgcggccatcaacttccagccaaagatgggggagctc
tacatgctcttggcagtggctctgaccaatctggaagatatagaaaatgccaagagagcc
tacgcagaagcagtccacctggataagtgtaaccctttagtaaacctgaactatgctgtg
ctgctgtacaaccagggcgagaagaagaacgccctggcccaatatcaggagatggagaag
aaagtcagcctactcaaggacaatagctctctggaatttgactctgagatggtggagatg
gctcagaagttgggagctgctctccaggttggggaggcactggtctggaccaaaccagtt
aaagatcccaaatcaaagcaccagaccacttcaaccagcaaacctgccagtttccagcag
cctctgggctctaatcaagctctaggacaggcaatgtcttcagcagctgcatacaggacg
ctcccctcaggtgctggaggaacatcccagttcacaaagcccccatctcttcctctggag
ccagagcctgcggtggaatcaagtccaactgaaacatcagaacaaataagagagaaataa

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