KEGG   Homo sapiens (human): 7287
Entry
7287              CDS       T01001                                 
Symbol
TULP1, LCA15, RP14, TUBL1
Name
(RefSeq) TUB like protein 1
  KO
K19600  tubby and related proteins
Organism
hsa  Homo sapiens (human)
Disease
H00527  Retinitis pigmentosa
H00837  Leber congenital amaurosis
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   03037 Cilium and associated proteins [BR:hsa03037]
    7287 (TULP1)
   04990 Domain-containing proteins not elsewhere classified [BR:hsa04990]
    7287 (TULP1)
Cilium and associated proteins [BR:hsa03037]
 Primary cilia and associated proteins
  Other primary cilia associated proteins
   7287 (TULP1)
Domain-containing proteins not elsewhere classified [BR:hsa04990]
 Other domain-containing proteins
  Tubby family proteins
   7287 (TULP1)
SSDB
Motif
Pfam: Tub DUF3527
Other DBs
NCBI-GeneID: 7287
NCBI-ProteinID: NP_003313
OMIM: 602280
HGNC: 12423
Ensembl: ENSG00000112041
Vega: OTTHUMG00000014575
Pharos: O00294(Tbio)
UniProt: O00294 Q0QD38
Structure
LinkDB
Position
6:complement(35497874..35512896)
AA seq 542 aa
MPLRDETLREVWASDSGHEEESLSPEAPRRPKQRPAPAQRLRKKRTEAPESPCPTGSKPR
KPGAGRTGRPREEPSPDPAQARAPQTVYARFLRDPEAKKRDPRETFLVARAPDAEDEEEE
EEEDEEDEEEEAEEKKEKILLPPKKPLREKSSADLKERRAKAQGPRGDLGSPDPPPKPLR
VRNKEAPAGEGTKMRKTKKKGSGEADKDPSGSPASARKSPAAMFLVGEGSPDKKALKKKG
TPKGARKEEEEEEEAATVIKKSNQKGKAKGKGKKKAKEERAPSPPVEVDEPREFVLRPAP
QGRTVRCRLTRDKKGMDRGMYPSYFLHLDTEKKVFLLAGRKRKRSKTANYLISIDPTNLS
RGGENFIGKLRSNLLGNRFTVFDNGQNPQRGYSTNVASLRQELAAVIYETNVLGFRGPRR
MTVIIPGMSAENERVPIRPRNASDGLLVRWQNKTLESLIELHNKPPVWNDDSGSYTLNFQ
GRVTQASVKNFQIVHADDPDYIVLQFGRVAEDAFTLDYRYPLCALQAFAIALSSFDGKLA
CE
NT seq 1629 nt   +upstreamnt  +downstreamnt
atgcctctgcgggatgaaaccctccgagaggtgtgggcctctgacagtgggcatgaagaa
gaaagcctgagcccggaggccccgcggcgccccaaacagcgacccgccccggcacagagg
ctaaggaagaagaggacggaggcccccgaatccccctgccccacgggatccaagccccgg
aagcccggagctgggcggacggggaggccgcgggaggagccttccccagacccagcccag
gcccgggcgccgcagacggtctacgccaggttcctcagggaccccgaggccaagaagcgc
gacccccgggaaacctttctggtagcccgtgccccagacgcggaggacgaggaggaggag
gaagaggaggacgaggaggacgaggaagaggaggcagaggaaaagaaagagaaaatcctt
ctgcctcccaagaagcccctgagagagaagagctccgcagacctgaaggagaggagggcc
aaggcccagggcccaaggggagacctgggaagccctgaccccccaccgaaacctctgcgt
gttaggaataaggaagctccagcaggggaggggaccaagatgagaaagaccaagaagaaa
gggtctggggaggccgacaaggacccctcagggagcccagccagtgcgaggaagagccca
gcagccatgtttctggttggggaaggcagtcctgacaagaaagccctgaagaagaaaggc
actcccaaaggcgcgaggaaggaggaagaagaggaggaggaggcagctacggtgataaag
aagagcaatcaaaagggcaaagccaaaggaaaaggcaaaaagaaagcgaaggaggagagg
gccccgtctccccccgtggaggtggacgaaccccgggagtttgtgctccggcctgccccc
cagggccgcacggtgcgctgccggctgacccgggacaaaaagggcatggatcgaggcatg
tatccctcctacttcctgcacctggacacggagaagaaggtgttcctcttggctggcagg
aaacgaaaacggagcaagacagccaattacctcatctccatcgaccctaccaatctgtcc
cgaggaggggagaatttcatcgggaagctgaggtccaacctcctggggaaccgcttcacg
gtctttgacaacgggcagaacccacagcgtgggtacagcactaatgtggcaagccttcgg
caggagctggcagctgtgatctatgaaaccaacgtgctgggcttccgtggcccccggcgc
atgaccgtcatcattcctggcatgagtgcggagaacgagagggtccccatccggccccga
aatgctagtgacggcctgctggtgcgctggcagaacaagacgctggagagcctcatagaa
ctgcacaacaagccacctgtctggaacgatgacagtggctcctacaccctcaacttccaa
ggccgggtcacccaggcctcagtcaagaacttccagattgtccacgctgatgaccccgac
tatatcgtgctgcagttcggccgcgtggcggaggacgccttcaccctagactaccggtac
ccgctgtgcgccctgcaggccttcgccatcgccctctccagtttcgacgggaagctggcc
tgcgagtga

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