KEGG   Homo sapiens (human): 585
Entry
585               CDS       T01001                                 
Symbol
BBS4
Name
(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)
  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 TPR_17 TPR_14 TPR_16 TPR_12 ANAPC3 TPR_9 TPR_7 TPR_15 Wzy_C_2 PknG_TPR NatA_aux_su TPR_MalT TPR-S ChAPs Mu-like_Pro
Other DBs
NCBI-GeneID: 585
NCBI-ProteinID: NP_149017
OMIM: 600374
HGNC: 969
Ensembl: ENSG00000140463
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  
Ontology (3)   
   KEGG BRITE (3)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Genome (1)   
   KEGG GENOME (1)   
Gene (15)   
   KEGG ORTHOLOGY (1)   
   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 (20)   
   Pfam (20)   
All databases (116)   

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