KEGG   Homo sapiens (human): 79809Help
Entry
79809             CDS       T01001                                 

Gene name
TTC21B, ATD4, FAP60, FLA17, IFT139, IFT139B, JBTS11, NPHP12, Nbla10696, SRTD4, THM1
Definition
(RefSeq) tetratricopeptide repeat domain 21B
  KO
K19673  tetratricopeptide repeat protein 21B
Organism
hsa  Homo sapiens (human)
Disease
H00530  Joubert syndrome
H00537  Nephronophthisis
H00751  Asphyxiating thoracic dystrophy
H02157  Short-rib thoracic dysplasia
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03036 Chromosome and associated proteins [BR:hsa03036]
    79809 (TTC21B)
Chromosome and associated proteins [BR:hsa03036]
 Eukaryotic type
  Centrosome formation and ciliogenesis proteins
   Intraflagellar transport (IFT) complex A
    79809 (TTC21B)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: TPR_19 TPR_2 TPR_14 TPR_1 TPR_16 TPR_8 ANAPC3 TPR_11 TPR_12 TPR_7 TPR_6 TPR_17 TPR_21 TPR_9 Fis1_TPR_C TPR_4 SPOB_a YfdX
Motif
Other DBs
NCBI-GeneID: 79809
NCBI-ProteinID: NP_079029
OMIM: 612014
HGNC: 25660
Ensembl: ENSG00000123607
Vega: OTTHUMG00000154083
Pharos: Q7Z4L5(Tdark)
UniProt: Q7Z4L5 A8KA77
Position
2q24.3
AA seq 1316 aa AA seqDB search
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 NT seq  +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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