KEGG   Homo sapiens (human): 54982
Entry
54982             CDS       T01001                                 
Symbol
CLN6, CLN4A, CLN6A, HsT18960, nclf
Name
(RefSeq) CLN6 transmembrane ER protein
  KO
K12359  ceroid-lipofuscinosis neuronal protein 6
Organism
hsa  Homo sapiens (human)
Disease
H00149  Neuronal ceroid lipofuscinosis
H02276  Kufs disease
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09190 Not Included in Pathway or Brite
  09193 Unclassified: signaling and cellular processes
   99992 Structural proteins
    54982 (CLN6)
SSDB
Motif
Pfam: CLN6 Zn_dep_PLPC
Other DBs
NCBI-GeneID: 54982
NCBI-ProteinID: NP_060352
OMIM: 606725
HGNC: 2077
Ensembl: ENSG00000128973
UniProt: Q9NWW5 A0A024R601
Position
15:complement(68206992..68257211)
AA seq 311 aa
MEATRRRQHLGATGGPGAQLGASFLQARHGSVSADEAARTAPFHLDLWFYFTLQNWVLDF
GRPIAMLVFPLEWFPLNKPSVGDYFHMAYNVITPFLLLKLIERSPRTLPRSITYVSIIIF
IMGASIHLVGDSVNHRLLFSGYQHHLSVRENPIIKNLKPETLIDSFELLYYYDEYLGHCM
WYIPFFLILFMYFSGCFTASKAESLIPGPALLLVAPSGLYYWYLVTEGQIFILFIFTFFA
MLALVLHQKRKRLFLDSNGLFLFSSFALTLLLVALWVAWLWNDPVLRKKYPGVIYVPEPW
AFYTLHVSSRH
NT seq 936 nt   +upstreamnt  +downstreamnt
atggaggcgacgcggaggcggcagcacctgggagcgacgggcggcccaggcgcgcagctg
ggcgcctccttcctgcaggccaggcatggctctgtgagcgctgatgaggctgcccgcacg
gctcccttccacctcgacctctggttctacttcacactgcagaactgggttctggacttt
gggcgtcccattgccatgctggtattccctctcgagtggtttccactcaacaagcccagt
gttggggactacttccacatggcctacaacgtcatcacgccctttctcttgctcaagctc
atcgagcggtccccccgcaccctgccacgctccatcacgtacgtgagcatcatcatcttc
atcatgggtgccagcatccacctggtgggtgactctgtcaaccaccgcctgctcttcagt
ggctaccagcaccacctgtctgtccgtgagaaccccatcatcaagaatctcaagccggag
acgctgatcgactcctttgagctgctctactattatgatgagtacctgggtcactgcatg
tggtacatccccttcttcctcatcctcttcatgtacttcagcggctgctttactgcctct
aaagctgagagcttgattccagggcctgccctgctcctggtggcacccagtggcctgtac
tactggtacctggtcaccgagggccagatcttcatcctcttcatcttcaccttcttcgcc
atgctggccctcgtcctgcaccagaagcgcaagcgcctcttcctggacagcaacggcctc
ttcctcttctcctccttcgcactgaccctcttgcttgtggcgctctgggtcgcctggctg
tggaatgaccctgttctcaggaagaagtacccgggtgtcatctacgtccctgagccctgg
gctttctacacccttcacgtcagcagtcggcactga

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