KEGG   Homo sapiens (human): 55212
Entry
55212             CDS       T01001                                 
Symbol
BBS7, BBS2L1
Name
(RefSeq) Bardet-Biedl syndrome 7
  KO
K16749  Bardet-Biedl syndrome 7 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]
    55212 (BBS7)
Cilium and associated proteins [BR:hsa03037]
 Primary cilia and associated proteins
  BBSome
   55212 (BBS7)
SSDB
Motif
Pfam: BBS2_Mid BBS2_C FlxA ANAPC4_WD40
Other DBs
NCBI-GeneID: 55212
NCBI-ProteinID: NP_789794
OMIM: 607590
HGNC: 18758
Ensembl: ENSG00000138686
UniProt: Q8IWZ6
Position
4:complement(121824329..121870474)
AA seq 715 aa
MDLILNRMDYLQVGVTSQKTMKLIPASRHRATQKVVIGDHDGVVMCFGMKKGEAAAVFKT
LPGPKIARLELGGVINTPQEKIFIAAASEIRGFTKRGKQFLSFETNLTESIKAMHISGSD
LFLSASYIYNHYCDCKDQHYYLSGDKINDVICLPVERLSRITPVLACQDRVLRVLQGSDV
MYAVEVPGPPTVLALHNGNGGDSGEDLLFGTSDGKLALIQITTSKPVRKWEIQNEKKRGG
ILCIDSFDIVGDGVKDLLVGRDDGMVEVYSFDNANEPVLRFDQMLSESVTSIQGGCVGKD
SYDEIVVSTYSGWVTGLTTEPIHKESGPGEELKINQEMQNKISSLRNELEHLQYKVLQER
ENYQQSSQSSKAKSAVPSFGINDKFTLNKDDASYSLILEVQTAIDNVLIQSDVPIDLLDV
DKNSAVVSFSSCDSESNDNFLLATYRCQADTTRLELKIRSIEGQYGTLQAYVTPRIQPKT
CQVRQYHIKPLSLHQRTHFIDHDRPMNTLTLTGQFSFAEVHSWVVFCLPEVPEKPPAGEC
VTFYFQNTFLDTQLESTYRKGEGVFKSDNISTISILKDVLSKEATKRKINLNISYEINEV
SVKHTLKLIHPKLEYQLLLAKKVQLIDALKELQIHEGNTNFLIPEYHCILEEADHLQEEY
KKQPAHLERLYGMITDLFIDKFKFKGTNVKTKVPLLLEILDSYDQNALISFFDAA
NT seq 2148 nt   +upstreamnt  +downstreamnt
atggatctgattttaaaccgaatggattatctgcaggtgggagtaacatctcagaagact
atgaagctaattcctgcctcaagacacagagctacacaaaaggtggttattggagatcat
gatggggtagttatgtgctttggcatgaagaaaggagaagcagcagcagtgttcaagact
ttacccgggccgaagattgcaaggctggaactgggaggggttatcaacacacctcaggag
aaaatttttattgctgcagcatctgagattagaggcttcacaaaaagaggaaaacagttc
ctctcctttgaaacaaacctcactgaaagcattaaagctatgcacatatctggctcagac
ctctttctcagtgcaagttacatctataaccattattgtgactgcaaagaccaacattat
tacctttctggggataaaatcaatgatgtgatctgccttccagtggaaagattatctcgt
atcacacctgtattggcctgccaggacagagtgctcagagttttacagggatctgatgtg
atgtatgcagttgaagttcctggaccccctactgtcttagcactacacaatggaaatggc
ggtgactctggagaagaccttttgtttgggacatcagacggaaaacttgcgcttatacag
attactacatccaaaccagtacgcaagtgggaaattcaaaatgagaaaaagagaggaggt
attttgtgtattgacagctttgacattgtgggtgatggggttaaagatttacttgttggg
agagatgacggaatggtggaagtgtatagttttgataatgcaaatgaacctgttctacga
tttgatcagatgttgtctgaaagcgtcacatctatccagggtggttgtgtaggaaaagac
agctatgatgaaatcgtggtgtccacatattcaggctgggttacaggtctgacaacagag
cccattcataaggaaagtggaccaggagaagaactaaaaattaatcaggagatgcagaat
aaaatttcttccttacggaatgagttggaacatttgcagtataaggtattgcaggaaaga
gagaattatcaacagtcttctcaatcaagcaaagcaaaatcagcagtaccttcctttggt
ataaatgataaatttacactaaataaagatgatgccagttacagccttatcttagaggta
cagactgcaatagataatgtcttaatacagagtgatgttccaatagatttacttgatgtg
gataaaaattctgctgttgttagctttagcagctgtgattctgagtcaaacgacaacttc
cttcttgccacttatcggtgccaggcagatactacaaggctggaactcaagattcgctca
attgaaggccagtatggcacactacaagcatatgtgactccaagaattcaacccaaaacc
tgtcaggtccgccagtaccacatcaaacctctttcactccatcaaagaactcactttatt
gatcatgacagacccatgaatacactgaccctaacaggccagttcagttttgctgaagtt
cactcctgggtggttttttgtctgcctgaagttccagaaaaacctccagcaggagaatgt
gtgacattttactttcagaacacctttctagatacacaacttgaaagtacctacagaaaa
ggagagggagtttttaaatctgacaacatttctactatctccatcctaaaagatgtgctt
tctaaagaagctacaaaaaggaaaattaacctcaacatatcatacgagataaatgaagta
tcagtcaaacacactttaaagctaatccacccaaagctggagtaccagttgcttttggct
aagaaagtgcagttaattgatgctttaaaagaattacagattcatgagggaaatacgaac
tttctgataccagaatatcactgtattctagaagaggcagatcacctacaggaagaatac
aaaaagcaacctgcacatcttgaaagactctatggcatgatcactgatcttttcatagat
aaatttaagtttaaaggcaccaatgtaaaaactaaagtaccccttctattggaaattctg
gacagttatgaccaaaatgcattgatttcattcttcgatgcagcatga

  All links  
Ontology (2)   
   KEGG BRITE (2)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Genome (1)   
   KEGG GENOME (1)   
Gene (12)   
   KEGG ORTHOLOGY (1)   
   RefGene (4)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (2)   
   OC (1)   
Protein sequence (18)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (16)   
DNA sequence (42)   
   RefSeq(nuc) (16)   
   GenBank (13)   
   EMBL (13)   
Protein domain (4)   
   Pfam (4)   
All databases (82)   

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