KEGG   Homo sapiens (human): 585
Entry
585               CDS       T01001                                 
Symbol
BBS4
Name
(RefSeq) BBSome complex member BBS4 isoform 1
  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)
  09183 Protein families: signaling and cellular processes
   03037 Cilium and associated proteins [BR:hsa03037]
    585 (BBS4)
Chromosome and associated proteins [BR:hsa03036]
 Eukaryotic type
  Centrosome formation proteins
   Pericentriolar materials (PCM)
    Centriolar satellite
     585 (BBS4)
Cilium and associated proteins [BR:hsa03037]
 Primary cilia and associated proteins
  BBSome
   585 (BBS4)
SSDB
Motif
Pfam: TPR_2 TPR_1 TPR_8 TPR_19 TPR_11 CFAP70_TPR_C TPR_16 TPR_17 TPR_14 TPR_12 ANAPC3 TPR_CcmH_CycH TPR_9 RMD1-3 TPR_Psidin_N TPR_Slam TPR_15 ARM_TT21_2nd TPR_7 CFAP70_mid_TPR ARM_TT21_4th TPR_INTS8_3 IFT56 Wzy_C_2 NatA_aux_su TPR_YpiA_C PRP6_TPR ARM_TT21_C PknG_TPR ARM_TT21_N TPR_MalT SUCH1_C TPR-S CadC_C HrpB1_HrpK ChAPs TTC22_C P8_CR TPR_At1g68980 Phage_Cox
Other DBs
NCBI-GeneID: 585
NCBI-ProteinID: NP_149017
OMIM: 600374
HGNC: 969
Ensembl: ENSP00000268057.4
UniProt: Q96RK4 A0A0S2Z3A9
Structure
Position
15:72686207..72738473
AA seq 519 aa
MAEERVATRTQFPVSTESQKPRQKKAPEFPILEKQNWLIHLHYIRKDYEACKAVIKEQLQ
ETQGLCEYAIYVQALIFRLEGNIQESLELFQTCAVLSPQSADNLKQVARSLFLLGKHKAA
IEVYNEAAKLNQKDWEISHNLGVCYIYLKQFNKAQDQLHNALNLNRHDLTYIMLGKIHLL
EGDLDKAIEVYKKAVEFSPENTELLTTLGLLYLQLGIYQKAFEHLGNALTYDPTNYKAIL
AAGSMMQTHGDFDVALTKYRVVACAVPESPPLWNNIGMCFFGKKKYVAAISCLKRANYLA
PFDWKILYNLGLVHLTMQQYASAFHFLSAAINFQPKMGELYMLLAVALTNLEDIENAKRA
YAEAVHLDKCNPLVNLNYAVLLYNQGEKKNALAQYQEMEKKVSLLKDNSSLEFDSEMVEM
AQKLGAALQVGEALVWTKPVKDPKSKHQTTSTSKPASFQQPLGSNQALGQAMSSAAAYRT
LPSGAGGTSQFTKPPSLPLEPEPAVESSPTETSEQIREK
NT seq 1560 nt   +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

  All links  
Disease (2)   
   OMIM (2)   
Gene (14)   
   RefGene (3)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (6)   
   OC (1)   
Protein sequence (18)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (15)   
DNA sequence (55)   
   RefSeq(nuc) (17)   
   GenBank (19)   
   EMBL (19)   
3D Structure (1)   
   PDB (1)   
Protein domain (40)   
   Pfam (40)   
All databases (130)   

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