KEGG   Homo sapiens (human): 79600
Entry
79600             CDS       T01001                                 
Symbol
TCTN1, JBTS13, TECT1
Name
(RefSeq) tectonic family member 1
  KO
K19382  tectonic-1/3
Organism
hsa  Homo sapiens (human)
Disease
H00530  Joubert syndrome and related disorders
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   03037 Cilium and associated proteins [BR:hsa03037]
    79600 (TCTN1)
Cilium and associated proteins [BR:hsa03037]
 Primary cilia and associated proteins
  MKS complex
   79600 (TCTN1)
SSDB
Motif
Pfam: TCTN_DUF1619
Other DBs
NCBI-GeneID: 79600
NCBI-ProteinID: NP_001076006
OMIM: 609863
HGNC: 26113
Ensembl: ENSG00000204852
UniProt: Q2MV58 B4DIB9
Position
12:110614129..110649430
AA seq 587 aa
MRPRGLPPLLVVLLGCWASVSAQTDATPAVTTEGLNSTEAALATFGTFPSTRPPGTPRAP
GPSSGPRPTPVTDVAVLCVCDLSPAQCDINCCCDPDCSSVDFSVFSACSVPVVTGDSQFC
SQKAVIYSLNFTANPPQRVFELVDQINPSIFCIHITNYKPALSFINPEVPDENNFDTLMK
TSDGFTLNAESYVSFTTKLDIPTAAKYEYGVPLQTSDSFLRFPSSLTSSLCTDNNPAAFL
VNQAVKCTRKINLEQCEEIEALSMAFYSSPEILRVPDSRKKVPITVQSIVIQSLNKTLTR
REDTDVLQPTLVNAGHFSLCVNVVLEVKYSLTYTDAGEVTKADLSFVLGTVSSVVVPLQQ
KFEIHFLQENTQPVPLSGNPGYVVGLPLAAGFQPHKGSGIIQTTNRYGQLTILHSTTEQD
CLALEGVRTPVLFGYTMQSGCKLRLTGALPCQLVAQKVKSLLWGQGFPDYVAPFGNSQAQ
DMLDWVPIHFITQSFNRKDSCQLPGALVIEVKWTKYGSLLNPQAKIVNVTANLISSSFPE
ANSGNERTILISTAVTFVDVSAPAEAGFRAPPAINARLPFNFFFPFV
NT seq 1764 nt   +upstreamnt  +downstreamnt
atgaggccgcgaggtctcccgccgctcctggtggtgctcctgggctgctgggcctccgtg
agcgcccagaccgatgccaccccggcggtgacgacagagggcctcaactccaccgaggca
gccctggccaccttcggaactttcccgtcgaccaggccccccgggactcccagggctcca
gggccctcctccggccccaggcctaccccagtcacggacgttgctgttctctgtgtctgt
gacttatccccagcacagtgtgacatcaactgctgctgtgatcccgactgcagctccgtg
gatttcagtgtcttttctgcctgctcagttccagttgtcacgggcgacagccagttttgt
agtcaaaaagcagtcatctattcattgaattttacagcaaacccacctcaaagagtattt
gaacttgttgaccagattaatccatctattttctgcattcatattacaaactataaacct
gcattatcctttattaatccagaagtacctgatgaaaacaattttgatacattgatgaaa
acatctgatggttttacattgaatgctgaatcatatgtttccttcacaaccaaactggat
attcctactgctgctaaatatgagtatggggttcctctgcagacttcagattcgtttctg
agatttccttcgtccctgacatcatctctgtgcactgataataaccctgcagcgtttctg
gtgaaccaggctgttaagtgcaccagaaaaataaatttagaacagtgtgaagaaattgaa
gccctcagcatggctttttacagcagcccggaaattctgagggtacctgattcaagaaaa
aaggtccctatcactgttcagtccatcgtcattcagtctctaaataaaacgctcacccga
cgggaggacactgatgtgctgcagccgactctcgtcaacgctggacactttagcctttgc
gtgaatgttgttcttgaggtaaagtacagcctcacatacacagatgcaggtgaagtcacc
aaagctgatctctcattcgttctggggacagttagcagcgtagtggtcccactgcagcaa
aagtttgaaattcattttcttcaggaaaatacccagccagtccctctcagtggaaaccct
ggttatgtcgtggggctcccattagctgctggattccagcctcataaggggtctgggatt
attcagaccacaaatagatatggacagcttactattcttcatagcacaactgagcaagac
tgcttagcactggagggggtccggaccccagtattatttggttacactatgcaatctggc
tgtaaactaagactgactggagctctcccgtgtcagctcgtagcacagaaggtgaagagc
ctgctgtggggccagggcttcccagattacgtggccccttttggaaattcccaggcccag
gacatgctggactgggtgcccatccacttcatcacccagtcattcaacaggaaggattcc
tgccagctcccaggggctttggttatagaagtgaagtggactaaatacggatccctgctg
aatccacaggccaaaatagtcaatgtaactgcaaatctaatttcatcctcctttcctgag
gccaactcaggaaatgaaaggacgattcttatttccactgcggttacttttgtggatgtg
tctgcacctgcagaggcaggcttcagagctccaccagccatcaatgccaggctgcccttt
aacttcttcttcccgtttgtttga

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