KEGG   Homo sapiens (human): 1201
Entry
1201              CDS       T01001                                 
Symbol
CLN3, BTN1, BTS, JNCL, SLC29B1
Name
(RefSeq) battenin isoform a
  KO
K12389  battenin
Organism
hsa  Homo sapiens (human)
Pathway
hsa04142  Lysosome biogenesis
Network
nt06550  Lysosome biogenesis
  Element
N02016  Retrieval of the lysosomal sorting receptors from the endosome
N02021  Autophagosome-lysosome fusion
Disease
H00149  Neuronal ceroid lipofuscinosis
H00527  Retinitis pigmentosa
H02275  Batten disease
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  09141 Transport and catabolism
   04142 Lysosome biogenesis
    1201 (CLN3)
SSDB
Motif
Pfam: CLN3 BIRC6
Other DBs
NCBI-GeneID: 1201
NCBI-ProteinID: NP_000077
OMIM: 607042
HGNC: 2074
UniProt: Q13286
LinkDB
Position
16:complement(28466653..28492082)
AA seq 438 aa
MGGCAGSRRRFSDSEGEETVPEPRLPLLDHQGAHWKNAVGFWLLGLCNNFSYVVMLSAAH
DILSHKRTSGNQSHVDPGPTPIPHNSSSRFDCNSVSTAAVLLADILPTLVIKLLAPLGLH
LLPYSPRVLVSGICAAGSFVLVAFSHSVGTSLCGVVFASISSGLGEVTFLSLTAFYPRAV
ISWWSSGTGGAGLLGALSYLGLTQAGLSPQQTLLSMLGIPALLLASYFLLLTSPEAQDPG
GEEEAESAARQPLIRTEAPESKPGSSSSLSLRERWTVFKGLLWYIVPLVVVYFAEYFINQ
GLFELLFFWNTSLSHAQQYRWYQMLYQAGVFASRSSLRCCRIRFTWALALLQCLNLVFLL
ADVWFGFLPSIYLVFLIILYEGLLGGAAYVNTFHNIALETSDEHREFAMAATCISDTLGI
SLSGLLALPLHDFLCQLS
NT seq 1317 nt   +upstreamnt  +downstreamnt
atgggaggctgtgcaggctcgcggcggcgcttttcggattccgagggggaggagaccgtc
ccggagccccggctccctctgttggaccatcagggcgcgcattggaagaacgcggtgggc
ttctggctgctgggcctttgcaacaacttctcttatgtggtgatgctgagtgccgcccac
gacatccttagccacaagaggacatcgggaaaccagagccatgtggacccaggcccaacg
ccgatcccccacaacagctcatcacgatttgactgcaactctgtctctacggctgctgtg
ctcctggcggacatcctccccacactcgtcatcaaattgttggctcctcttggccttcac
ctgctgccctacagcccccgggttctcgtcagtgggatttgtgctgctggaagcttcgtc
ctggttgccttttctcattctgtggggaccagcctgtgtggtgtggtcttcgctagcatc
tcatcaggccttggggaggtcaccttcctctccctcactgccttctaccccagggccgtg
atctcctggtggtcctcagggactgggggagctgggctgctgggggccctgtcctacctg
ggcctcacccaggccggcctctcccctcagcagaccctgctgtccatgctgggtatccct
gccctgctgctggccagctatttcttgttgctcacatctcctgaggcccaggaccctgga
ggggaagaagaagcagagagcgcagcccggcagcccctcataagaaccgaggccccggag
tcgaagccaggctccagctccagcctctcccttcgggaaaggtggacagtgttcaagggt
ctgctgtggtacattgttcccttggtcgtagtttactttgccgagtatttcattaaccag
ggactttttgaactcctctttttctggaacacttccctgagtcacgctcagcaataccgc
tggtaccagatgctgtaccaggctggcgtctttgcctcccgctcttctctccgctgctgt
cgcatccgtttcacctgggccctggccctgctgcagtgcctcaacctggtgttcctgctg
gcagacgtgtggttcggctttctgccaagcatctacctcgtcttcctgatcattctgtat
gaggggctcctgggaggcgcagcctacgtgaacaccttccacaacatcgccctggagacc
agtgatgagcaccgggagtttgcaatggcggccacctgcatctctgacacactggggatc
tccctgtcggggctcctggctttgcctctgcatgacttcctctgccagctctcctga

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