KEGG   Homo sapiens (human): 79809
Entry
79809             CDS       T01001                                 
Symbol
TTC21B, ATD4, CFAP60, FAP60, FLA17, IFT139, IFT139B, JBTS11, NPHP12, Nbla10696, SRTD4, THM1
Name
(RefSeq) tetratricopeptide repeat domain 21B
  KO
K19673  tetratricopeptide repeat protein 21B
Organism
hsa  Homo sapiens (human)
Disease
H00530  Joubert syndrome and related disorders
H00537  Nephronophthisis
H00751  Asphyxiating thoracic dystrophy
H02157  Short-rib thoracic dysplasia
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   03037 Cilium and associated proteins [BR:hsa03037]
    79809 (TTC21B)
Cilium and associated proteins [BR:hsa03037]
 Primary cilia and associated proteins
  Intraflagellar transport (IFT) complex A
   79809 (TTC21B)
SSDB
Motif
Pfam: ARM_TT21_2nd ARM_TT21_C ARM_TT21_N ARM_TT21_5th ARM_TT21 ARM_TT21_4th TPR_19 TPR_14 TPR_2 TPR_16 TPR_1 TPR_8 ANAPC3 TPR_12 TPR_CcmH_CycH TPR_11 TPR_6 TPR_7 TPR_17 TPR_21 TPR_9 TPR_Slam Fis1_TPR_C SPOB_a DUF6584 TPR_4 YfdX ADH_zinc_N_2 HAT_PRP39_C
Other DBs
NCBI-GeneID: 79809
NCBI-ProteinID: NP_079029
OMIM: 612014
HGNC: 25660
Ensembl: ENSG00000123607
UniProt: Q7Z4L5 A8KA77
Structure
LinkDB
Position
2:complement(165873362..165953776)
AA seq 1316 aa
MDSQELKTLINYYCQERYFHHVLLVASEGIKRYGSDPVFRFYHAYGTLMEGKTQEALREF
EAIKNKQDVSLCSLLALIYAHKMSPNPDREAILESDARVKEQRKGAGEKALYHAGLFLWH
IGRHDKAREYIDRMIKISDGSKQGHVLKAWLDITRGKEPYTKKALKYFEEGLQDGNDTFA
LLGKAQCLEMRQNYSGALETVNQIIVNFPSFLPAFVKKMKLQLALQDWDQTVETAQRLLL
QDSQNVEALRMQALYYVCREGDIEKASTKLENLGNTLDAMEPQNAQLFYNITLAFSRTCG
RSQLILQKIQTLLERAFSLNPQQSEFATELGYQMILQGRVKEALKWYKTAMTLDETSVSA
LVGFIQCQLIEGQLQDADQQLEFLNEIQQSIGKSAELIYLHAVLAMKKNKRQEEVINLLN
DVLDTHFSQLEGLPLGIQYFEKLNPDFLLEIVMEYLSFCPMQPASPGQPLCPLLRRCISV
LETVVRTVPGLLQTVFLIAKVKYLSGDIEAAFNNLQHCLEHNPSYADAHLLLAQVYLSQE
KVKLCSQSLELCLSYDFKVRDYPLYHLIKAQSQKKMGEIADAIKTLHMAMSLPGMKRIGA
STKSKDRKTEVDTSHRLSIFLELIDVHRLNGEQHEATKVLQDAIHEFSGTSEEVRVTIAN
ADLALAQGDIERALSILQNVTAEQPYFIEAREKMADIYLKHRKDKMLYITCFREIAERMA
NPRSFLLLGDAYMNILEPEEAIVAYEQALNQNPKDGTLASKMGKALIKTHNYSMAITYYE
AALKTGQKNYLCYDLAELLLKLKWYDKAEKVLQHALAHEPVNELSALMEDGRCQVLLAKV
YSKMEKLGDAITALQQARELQARVLKRVQMEQPDAVPAQKHLAAEICAEIAKHSVAQRDY
EKAIKFYREALVHCETDNKIMLELARLYLAQDDPDSCLRQCALLLQSDQDNEAATMMMAD
LMFRKQDYEQAVFHLQQLLERKPDNYMTLSRLIDLLRRCGKLEDVPRFFSMAEKRNSRAK
LEPGFQYCKGLYLWYTGEPNDALRHFNKARKDRDWGQNALYNMIEICLNPDNETVGGEVF
ENLDGDLGNSTEKQESVQLAVRTAEKLLKELKPQTVQGHVQLRIMENYCLMATKQKSNVE
QALNTFTEIAASEKEHIPALLGMATAYMILKQTPRARNQLKRIAKMNWNAIDAEEFEKSW
LLLADIYIQSAKYDMAEDLLKRCLRHNRSCCKAYEYMGYIMEKEQAYTDAALNYEMAWKY
SNRTNPAVGYKLAFNYLKAKRYVDSIDICHQVLEAHPTYPKIRKDILDKARASLRP
NT seq 3951 nt   +upstreamnt  +downstreamnt
atggactcgcaggaattgaagactttgattaattactattgtcaagagagatatttccat
catgtattactggttgccagtgaaggaattaagaggtatggaagtgatccagtcttcagg
ttttatcatgcctatggcacattaatggaaggtaaaactcaagaagctcttcgagaattt
gaggctattaaaaataaacaagatgtatcactttgttctctacttgcactgatatatgcc
cataaaatgagtcctaatccagatagagaagctattctggaatcagatgccagagtgaag
gaacaacgtaaaggagctggagagaaagccttataccatgcaggcttatttttatggcac
attggtcgccatgataaagcaagggaatatattgacagaatgatcaaaatatcagatggt
agtaaacagggacacgttttgaaagcatggcttgatattacaagaggaaaagagccttac
actaaaaaagcactgaagtattttgaagagggactccaagatgggaatgatacttttgct
ctgctgggtaaggcacaatgccttgagatgcgccagaattattcaggtgccctggagact
gtgaaccagataatcgtgaattttccgagcttccttcctgcttttgttaagaaaatgaaa
ttacaactagccttgcaggattgggaccagacagttgagacagcacaaaggttgctgctc
caagatagccaaaatgtggaagcactgagaatgcaggcactctactatgtgtgtagagag
ggggatatagagaaggcttccaccaagctggaaaacttgggaaatacattggatgccatg
gaaccacagaatgctcaacttttctataacattacactcgccttcagcagaacttgtgga
cgtagtcaacttattcttcaaaaaattcaaacgttacttgagagagcttttagtttaaac
cctcagcaatcagaatttgctacagaacttggataccaaatgattttacaaggaagagtt
aaagaggcactgaagtggtataagaccgccatgacacttgatgagactagtgtgtctgcc
ctagttggatttatccaatgtcagttgatagaagggcaattacaggatgcagatcagcag
ctagaatttttaaatgaaatccagcaatccattggaaaatctgcggaattaatctattta
catgcagttcttgccatgaagaaaaataaacgacaagaagaagttattaatttgttaaat
gatgtcctggacactcacttttcacaattagaaggtttgcctcttggcatacagtatttt
gaaaagctaaatcctgatttcttgttagaaattgttatggagtatctgagcttctgtcca
atgcagcctgcaagtcctgggcaacctctttgtccacttctcaggcgttgcatctcagtc
ctggagactgtagtaagaactgttccaggtcttctgcaaacagtcttcctaatagcaaaa
gtgaaatatttgtcaggtgatattgaagcagctttcaataaccttcagcactgcttagaa
cacaatccctcttatgctgatgctcatctgctgctagctcaggtttacttgtctcaagaa
aaagtcaaattgtgttctcagtctcttgaactttgtctgagctatgattttaaggtgaga
gactatcctttataccatttgataaaagctcagtcacaaaagaaaatgggagaaatagca
gacgcaattaaaacactgcatatggcaatgagtttaccaggaatgaaaagaattggagct
tccacaaaatcaaaagacagaaaaactgaagttgatacaagccatcgtttatcgatcttt
cttgaattgatagacgttcaccgcttaaatggagagcagcatgaggcaaccaaagtttta
caagatgccatccatgaattttctggaacatctgaagaagtgcgggttaccattgctaat
gcagaccttgctctagcccaaggagatattgaacgggctttaagcatccttcagaatgtt
acagccgaacagccttattttatagaggccagagaaaaaatggcagatatttatctgaag
cacagaaaagataaaatgttatatatcacttgttttagagaaattgctgaaagaatggct
aaccctcggtcttttcttctccttggtgatgcatacatgaatattctagagcctgaagaa
gccatagtagcatatgagcaagcattaaatcagaacccgaaagatggaacattggcaagc
aaaatgggcaaagcacttatcaaaactcataactactcaatggcaatcacttactatgaa
gctgctctgaaaactggacaaaagaattatctttgctatgacctggctgagctcttatta
aaattgaaatggtatgacaaagcagaaaaagttcttcagcatgctctggctcatgaacct
gtaaatgaactgtcagctctcatggaggatggacgttgtcaagttcttctagcaaaagtt
tatagtaaaatggaaaaacttggtgatgcgatcactgcattacaacaggctcgagaatta
caagctcgggtactaaaacgtgttcagatggaacagccagatgcagttcctgcacagaaa
catttagcagctgaaatttgtgcagagattgcaaaacattctgttgctcagcgagactat
gaaaaagcaattaagttttatagagaggctctggttcactgcgaaacagataataagatt
atgttggaactggcacgattatacctggcacaagatgaccctgattcctgcctgcggcag
tgtgctctactgcttcagagtgaccaggataacgaagctgctaccatgatgatggctgat
ctcatgttcagaaaacaagactatgaacaagcagtgtttcatttacagcagcttttagaa
cgtaagccagataattatatgacattatctcgtttgattgatctcctaagaagatgtgga
aaactcgaggatgtcccaagatttttctcaatggctgagaaacgtaactccagagcaaaa
ttggaaccaggatttcagtattgtaaaggactgtatctttggtacactggagaaccaaat
gatgcccttcgacattttaataaagctcggaaagatcgtgactggggccaaaatgccctt
tataatatgatagagatctgtttgaatccagataatgaaactgttggaggtgaagtattt
gaaaacctggatggagacctgggtaattcaactgagaagcaagaatctgtgcaactggca
gtaagaacagcagaaaaacttcttaaggaactaaaacctcagactgttcagggtcacgta
cagcttcgcataatggaaaactattgcttaatggctaccaaacagaaatctaatgttgaa
caagcattaaataccttcactgaaatagcagcatctgagaaggagcatatcccagcgctc
ttgggaatggcaacggcttatatgatcttgaaacagactccacgagccagaaaccagctg
aagcgtattgcgaaaatgaattggaatgctattgatgctgaagagtttgagaagagttgg
ctgctacttgctgatatttacattcaatcagcaaaatatgacatggcagaagacctgtta
aaacggtgcctgcgtcataatagatcttgctgcaaagcttatgaatatatgggatacatt
atggaaaaagagcaagcatatacagatgctgccttgaactatgagatggcatggaaatat
agcaatcggacaaatccggcagtaggatacaaactggcatttaattacttaaaagcaaaa
agatatgtggattcaattgacatatgtcaccaggttcttgaagcacatccaacttatcca
aaaatcagaaaggatatacttgataaggcccgtgcgtctttaagaccttga

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