KEGG   Homo sapiens (human): 167691
Entry
167691            CDS       T01001                                 
Symbol
LCA5, C6orf152
Name
(RefSeq) lebercilin LCA5
  KO
K24828  lebercilin
Organism
hsa  Homo sapiens (human)
Disease
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]
    167691 (LCA5)
   04990 Domain-containing proteins not elsewhere classified [BR:hsa04990]
    167691 (LCA5)
Cilium and associated proteins [BR:hsa03037]
 Primary cilia and associated proteins
  Other primary cilia associated proteins
   167691 (LCA5)
Domain-containing proteins not elsewhere classified [BR:hsa04990]
 Other domain-containing proteins
  Others
   167691 (LCA5)
SSDB
Motif
Pfam: Lebercilin
Other DBs
NCBI-GeneID: 167691
NCBI-ProteinID: NP_001116241
OMIM: 611408
HGNC: 31923
Ensembl: ENSG00000135338
UniProt: Q86VQ0 A0A384MDJ7
Position
6:complement(79484991..79538782)
AA seq 697 aa
MGERAGSPGTDQERKAGKHHYSYLSDFETPQSSGRSSLVSSSPASVRRKNPKRQTSDGQV
HHQAPRKPSPKGLPNRKGVRVGFRSQSLNREPLRKDTDLVTKRILSARLLKINELQNEVS
ELQVKLAELLKENKSLKRLQYRQEKALNKFEDAENEISQLIFRHNNEITALKERLRKSQE
KERATEKRVKDTESELFRTKFSLQKLKEISEARHLPERDDLAKKLVSAELKLDDTERRIK
ELSKNLELSTNSFQRQLLAERKRAYEAHDENKVLQKEVQRLYHKLKEKERELDIKNIYSN
RLPKSSPNKEKELALRKNAACQSDFADLCTKGVQTMEDFKPEEYPLTPETIMCYENKWEE
PGHLTLDLQSQKQDRHGEAGILNPIMEREEKFVTDEELHVVKQEVEKLEDEWEREELDKK
QKEKASLLEREEKPEWETGRYQLGMYPIQNMDKLQGEEEERLKREMLLAKLNEIDRELQD
SRNLKYPVLPLLPDFESKLHSPERSPKTYRFSESSERLFNGHHLQDISFSTPKGEGQNSG
NVRSPASPNEFAFGSYVPSFAKTSERSNPFSQKSSFLDFQRNSMEKLSKDGVDLITRKEK
KANLMEQLFGASGSSTISSKSSDPNSVASSKGDIDPLNFLPGNKGSRDQEHDEDEGFFLS
EGRSFNPNRHRLKHADDKPAVKAADSVEDEIEEVALR
NT seq 2094 nt   +upstreamnt  +downstreamnt
atgggggaaagagcaggaagtccaggtactgatcaagaaagaaaggcaggcaaacaccat
tattcttacttatctgattttgaaacgccacagtcttctggccgatcatcgctggtcagt
tcttcacctgcaagtgttaggagaaaaaatcctaaaagacaaacttcagatggccaagta
catcaccaagcccctcggaaaccaagccctaagggtctaccaaacagaaagggagtccga
gtgggatttcgctcccagagcctcaatagagagccacttcggaaagatactgatcttgtt
acaaaacggattctgtctgcaagactgctaaaaatcaatgagttgcagaatgaagtatct
gaactccaggtcaagttagctgagctgctaaaagaaaataaatctttgaaaaggcttcag
tacagacaggagaaagccctgaataagtttgaagatgccgaaaatgaaatctcacaactt
atatttcgtcataacaatgagattacagcactcaaagaacgcttaagaaaatctcaagag
aaagaacgggcaactgagaaaagggtaaaagatacagaaagtgaactatttaggacaaaa
ttttccttacagaaactgaaagagatctctgaagctagacacctacctgaacgagatgat
ttggcaaagaaactagtttcagcagagttaaagttagatgacaccgagagaagaattaag
gagctatcgaaaaaccttgaactgagtactaacagtttccaacgacagttgcttgctgaa
aggaaaagggcatatgaggctcatgatgaaaataaagttcttcaaaaggaggtacagcga
ctatatcacaaattaaaggaaaaggagagagaactggatataaaaaatatatattctaat
cgtctgccaaagtcctctccaaataaagagaaagaacttgcattaagaaaaaatgctgca
tgccagagtgattttgcagacctgtgtacaaaaggagtacaaaccatggaagacttcaag
ccagaagaatatcctttaactccagaaacaattatgtgttacgaaaacaaatgggaagaa
ccaggacatcttactttggacttgcaatctcaaaagcaagacaggcatggagaagcaggg
attctaaacccaattatggaaagagaagaaaaatttgttacagatgaagaactccatgtc
gtaaaacaggaggttgaaaagctggaggatgaatgggaaagagaagaacttgataaaaag
caaaaagaaaaggcatctttactggaaagagaagaaaagccagagtgggaaactggaagg
taccaactaggaatgtatccaattcagaatatggataaattgcaaggagaggaagaagaa
agactgaagagagaaatgctacttgctaaactgaatgaaattgacagagaactccaagat
tctcgaaatctaaaataccctgttttgccattgttacctgattttgaatcaaaactacac
tccccagagagaagccccaaaacatacaggttctctgaatcctcagagagattatttaat
gggcatcatttgcaagacatcagtttctcaactccaaaaggagaaggtcagaattcagga
aatgttagaagtccagcctcccctaatgagttcgcatttggtagctacgtgccttcgttt
gcaaaaacatcagagaggtcaaatccatttagtcaaaaaagtagttttttggatttccaa
agaaacagtatggaaaaacttagtaaagatggtgtagatttaattacaagaaaagagaaa
aaagctaatttgatggaacagttatttggtgccagtggtagcagcaccatttcctccaaa
agcagtgacccaaattctgtggcttccagtaaaggagacattgaccctctaaattttctc
cctgggaataaaggcagcagagatcaagaacatgatgaagatgaaggctttttcctcagt
gaaggaagaagttttaatccaaataggcaccgattaaaacatgcagacgataaaccagca
gtaaaagcagctgattctgtagaagatgaaattgaagaagtagcactgagatga

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