KEGG   Homo sapiens (human): 123016
Entry
123016            CDS       T01001                                 
Symbol
TTC8, BBS8, RP51
Name
(RefSeq) tetratricopeptide repeat domain 8
  KO
K16781  tetratricopeptide repeat protein 8
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]
    123016 (TTC8)
Cilium and associated proteins [BR:hsa03037]
 Primary cilia and associated proteins
  BBSome
   123016 (TTC8)
SSDB
Motif
Pfam: TPR_2 TPR_1 TPR_12 TPR_14 TPR_8 TPR_19 TPR_16 TPR_17 TPR_6 TPR_7 TPR_9 TPR_10 ANAPC3 TPR_15 Coatomer_E PknG_TPR NatA_aux_su DUF5112
Other DBs
NCBI-GeneID: 123016
NCBI-ProteinID: NP_001275710
OMIM: 608132
HGNC: 20087
Ensembl: ENSG00000165533
UniProt: Q8TAM2 Q86U25 A0A0C4DGX9
Position
14:88824153..88881079
AA seq 531 aa
MSSEMEPLLLAWSYFRRRKFQLCADLCTQMLEKSPYDQAAWILKARALTEMVYIDEIDVD
QEGIAEMMLDENAIAQVPRPGTSLKLPGTNQTGGPSQAVRPITQAGRPITGFLRPSTQSG
RPGTMEQAIRTPRTAYTARPITSSSGRFVRLGTASMLTSPDGPFINLSRLNLTKYSQKPK
LAKALFEYIFHHENDVKTIHLEDVVLHLGIYPFLLRNKNHIEKNALDLAALSTEHSQYKD
WWWKVQIGKCYYRLGMYREAEKQFKSALKQQEMVDTFLYLAKVYVSLDQPVTALNLFKQG
LDKFPGEVTLLCGIARIYEEMNNMSSAAEYYKEVLKQDNTHVEAIACIGSNHFYSDQPEI
ALRFYRRLLQMGIYNGQLFNNLGLCCFYAQQYDMTLTSFERALSLAENEEEAADVWYNLG
HVAVGIGDTNLAHQCFRLALVNNNNHAEAYNNLAVLEMRKGHVEQARALLQTASSLAPHM
YEPHFNFATISDKIGDLQRSYVAAQKSEAAFPDHVDTQHLIKQLRQHFAML
NT seq 1596 nt   +upstreamnt  +downstreamnt
atgagctcggagatggagccgctgctcctggcctggagctattttaggcgcaggaagttc
cagctctgcgccgatctatgcacgcagatgctggagaagtccccttatgaccaggcagct
tggatcttaaaagcaagagcgctaacagaaatggtatacatagatgaaattgatgtagat
caggaaggaattgcagaaatgatgctggatgaaaatgctatagctcaagttccacgccct
ggaacgtctttgaaactccctggaactaatcagacaggagggcctagccaggccgttagg
ccaatcacacaagctggaagacccattacaggtttcctcaggcccagcacgcagagtgga
aggccaggcactatggaacaggctatcagaacacccagaaccgcctacacagcccgccct
atcaccagctcctccggaagatttgtcaggctgggaacggcttccatgcttacaagtcct
gatggaccatttataaatttatctaggctgaatttaacaaagtattcccagaaacctaag
ttggcaaaggctttgtttgagtatatctttcatcatgaaaatgatgttaagactattcat
cttgaagatgtagttctacatcttggaatttacccattcttattgaggaataaaaatcac
attgaaaaaaatgctttggatctggctgccctctccacagaacattctcagtacaaggac
tggtggtggaaagtacagattggaaaatgttactacaggttgggaatgtatcgtgaagca
gaaaaacagtttaaatcagccctgaagcagcaggaaatggtagatacatttctgtacttg
gcaaaagtttatgtctcattggatcaacctgtgactgctttaaatcttttcaaacaaggc
ttagataagtttccaggagaagtaaccctgctctgtggaattgcaagaatctatgaggaa
atgaacaatatgtcatcagcagcagaatattacaaagaagttttgaaacaagacaatact
catgtggaagccatcgcatgcattggaagcaaccacttctattctgatcagccagaaata
gctctccggttttacaggcggctgctgcagatgggcatttataacggccagctttttaac
aatctggggctgtgttgcttctatgcccagcagtatgatatgactctgacctcatttgaa
cgtgccctttctttggctgaaaatgaagaagaggcagctgatgtctggtacaacttggga
catgtagctgtgggaataggagatacaaatttggcccatcagtgcttcaggctggctctg
gtcaacaacaacaaccacgccgaggcctacaacaacctggctgtgctggagatgcggaag
ggccacgttgaacaggcaagggcactattacaaactgcatcatcattagcaccccatatg
tatgaaccgcattttaattttgcaacaatctctgataagattggagatctgcagagaagc
tatgttgctgcgcagaagtctgaagcagcatttccagaccatgtggacacacaacattta
attaaacaattaaggcagcattttgctatgctctga

  All links  
Ontology (2)   
   KEGG BRITE (2)   
Disease (4)   
   KEGG DISEASE (1)   
   OMIM (3)   
Genome (1)   
   KEGG GENOME (1)   
Gene (14)   
   KEGG ORTHOLOGY (1)   
   RefGene (5)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (3)   
   OC (1)   
Protein sequence (16)   
   UniProt (3)   
   SWISS-PROT (1)   
   RefSeq(pep) (12)   
DNA sequence (63)   
   RefSeq(nuc) (13)   
   GenBank (25)   
   EMBL (25)   
Protein domain (18)   
   Pfam (18)   
All databases (118)   

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