KEGG   Homo sapiens (human): 123016
Entry
123016            CDS       T01001                                 
Symbol
TTC8, BBS8, RP51
Name
(RefSeq) tetratricopeptide repeat protein 8 isoform D
  KO
K16781  tetratricopeptide repeat protein 8
Organism
hsa  Homo sapiens (human)
Disease
H00418  Bardet-Biedl syndrome
H00527  Retinitis pigmentosa
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 CFAP70_TPR_C TPR_17 TPR_CcmH_CycH CFAP70_mid_TPR TPR_7 TPR_6 TPR_9 PRP6_TPR TPR_10 RMD1-3 ANAPC3 TPR_15 ARM_TT21 TPR_MalT HAT_PRP39_C Coatomer_E CNOT10_TPR TPR_Psidin_N TPR_30 NatA_aux_su PknG_TPR TPR_COPA_B
Other DBs
NCBI-GeneID: 123016
NCBI-ProteinID: NP_001275710
OMIM: 608132
HGNC: 20087
UniProt: Q8TAM2 A0A0C4DGX9 Q86U25
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  
Disease (3)   
   OMIM (3)   
Gene (12)   
   RefGene (5)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (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 (29)   
   Pfam (29)   
All databases (123)   

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