KEGG   Homo sapiens (human): 1201Help
Entry
1201              CDS       T01001                                 

Gene name
CLN3, BTS, JNCL
Definition
ceroid-lipofuscinosis, neuronal 3
Orthology
K12389  
battenin
Organism
hsa  Homo sapiens (human)
Pathway
Lysosome
Disease
H00149  
Neuronal ceroid lipofuscinosis
H00810  
Progressive myoclonic epilepsy (PME)
Class
Cellular Processes; Transport and catabolism; Lysosome [PATH:hsa04142]
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: 
Motif
Other DBs
NCBI-GI: 
NCBI-GeneID: 
OMIM: 
HGNC: 
HPRD: 
Ensembl: 
Vega: 
UniProt: 
Position
16p12.1
AA seq 438 aa AA seqDB search
MGGCAGSRRRFSDSEGEETVPEPRLPLLDHQGAHWKNAVGFWLLGLCNNFSYVVMLSAAH
DILSHKRTSGNQSHVDPGPTPIPHNSSSRFDCNSVSTAAVLLADILPTLVIKLLAPLGLH
LLPYSPRVLVSGICAAGSFVLVAFSHSVGTSLCGVVFASISSGLGEVTFLSLTAFYPRAV
ISWWSSGTGGAGLLGALSYLGLTQAGLSPQQTLLSMLGIPALLLASYFLLLTSPEAQDPG
GEEEAESAARQPLIRTEAPESKPGSSSSLSLRERWTVFKGLLWYIVPLVVVYFAEYFINQ
GLFELLFFWNTSLSHAQQYRWYQMLYQAGVFASRSSLRCCRIRFTWALALLQCLNLVFLL
ADVWFGFLPSIYLVFLIILYEGLLGGAAYVNTFHNIALETSDEHREFAMAATCISDTLGI
SLSGLLALPLHDFLCQLS
NT seq 1317 nt NT seq  +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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