KEGG   Homo sapiens (human): 60506Help
Entry
60506             CDS       T01001                                 

Gene name
NYX, CLRP, CSNB1, CSNB1A, CSNB4, NBM1
Definition
(RefSeq) nyctalopin
  KO
K08129  nyctalopin
Organism
hsa  Homo sapiens (human)
Disease
H00787  Congenital stationary night blindness (CSNB)
Brite
Proteoglycans [BR:hsa00535]
 Extracellular matrix (ECM) proteoglycans
  Small leucine-rich proteoglycan (SLRP) family
   class IV
    60506 (NYX)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: LRR_8 LRR_4 LRR_9 LRR_5 LRR_1 LRRNT
Motif
Other DBs
NCBI-GeneID: 60506
NCBI-ProteinID: NP_072089
OMIM: 300278
HGNC: 8082
Ensembl: ENSG00000188937
Vega: OTTHUMG00000021370
Pharos: Q9GZU5(Tbio)
UniProt: Q9GZU5
Position
Xp11.4
AA seq 481 aa AA seqDB search
MKGRGMLVLLLHAVVLGLPSAWAVGACARACPAACACSTVERGCSVRCDRAGLLRVPAEL
PCEAVSIDLDRNGLRFLGERAFGTLPSLRRLSLRHNNLSFITPGAFKGLPRLAELRLAHN
GDLRYLHARTFAALSRLRRLDLAACRLFSVPERLLAELPALRELAAFDNLFRRVPGALRG
LANLTHAHLERGRIEAVASSSLQGLRRLRSLSLQANRVRAVHAGAFGDCGVLEHLLLNDN
LLAELPADAFRGLRRLRTLNLGGNALDRVARAWFADLAELELLYLDRNSIAFVEEGAFQN
LSGLLALHLNGNRLTVLAWVAFQPGFFLGRLFLFRNPWCCDCRLEWLRDWMEGSGRVTDV
PCASPGSVAGLDLSQVTFGRSSDGLCVDPEELNLTTSSPGPSPEPAATTVSRFSSLLSKL
LAPRVPVEEAANTTGGLANASLSDSLSSRGVGGAGRQPWFLLASCLLPSVAQHVVFGLQM
D
NT seq 1446 nt NT seq  +upstreamnt  +downstreamnt
atgaaaggccgagggatgttggtcctgcttctgcatgcggtggtcctcggcctgcccagc
gcctgggccgtgggggcctgcgcccgcgcttgtcccgccgcctgcgcctgcagcaccgtg
gagcgcggctgctcggtgcgctgcgaccgcgcgggcctcctgcgggtgccggccgagctc
ccgtgcgaggcggtctccatcgacctggaccggaacggcctgcgcttcctgggcgagcga
gccttcggcacgctgccgtccttgcgccgcctgtcgctgcgccacaacaacctgtccttc
atcacgcccggcgccttcaagggcctgccgcgcctggctgagctgcgcctggcgcacaac
ggcgacctgcgctacctgcacgcgcgcaccttcgcggcgctcagccgcctgcgccgccta
gacctagcagcctgccgcctcttcagcgtgcccgagcgcctcctggccgaactgccggcc
ctgcgcgaactcgccgccttcgacaacctgttccgccgcgtgccgggcgcgctgcgcggc
ctggccaacctgacgcacgcgcacctggagcgcggccgcatcgaggcggtggcctccagc
tcgctgcagggcctgcgccgcctgcgctcgctcagcctgcaggccaaccgcgtccgtgcc
gtgcacgctggcgccttcggggactgtggcgtcctggagcatctgctgctcaacgacaac
ctgctggccgagctcccggccgacgccttccgcggcctgcggcgcctgcgcacgctcaac
ctgggtggcaacgcgctggaccgcgtggcgcgcgcctggttcgctgacctggccgagctc
gagctgctctacctggaccgcaacagcatcgccttcgtggaggagggcgccttccagaac
ctctcgggtctcctcgcgctgcacctcaacggcaaccgcctcaccgtgctcgcctgggtc
gccttccagcccggcttcttcctgggccgcctcttcctcttccgcaacccgtggtgctgc
gactgccgtctggagtggctgagggactggatggagggctccggacgtgtcaccgacgtg
ccgtgcgcctccccgggctccgtggccggcctggacctcagccaggtgaccttcgggcgc
tcctccgatggcctctgtgtggaccccgaggagctgaacctcaccacgtccagtccaggc
ccgtccccagaaccagcggccaccaccgtgagcaggttcagcagcctcctctccaagctg
ctggccccgagggtcccggtggaggaggcggccaacaccactggggggctggccaacgcc
tccctgtccgacagcctctcctcccgtggggtgggaggcgcgggccggcagccctggttt
ctcctcgcctcttgtctcctgcccagcgtggcccagcacgtggtgtttggcctgcagatg
gactga

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