Homo sapiens (human): 1201
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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)
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Paralog
GFIT
Motif
Pfam:
CLN3
BIRC6
Motif
Other DBs
NCBI-GeneID:
1201
NCBI-ProteinID:
NP_000077
OMIM:
607042
HGNC:
2074
UniProt:
Q13286
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Position
16:complement(28466653..28492082)
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AA seq
438 aa
AA seq
DB search
MGGCAGSRRRFSDSEGEETVPEPRLPLLDHQGAHWKNAVGFWLLGLCNNFSYVVMLSAAH
DILSHKRTSGNQSHVDPGPTPIPHNSSSRFDCNSVSTAAVLLADILPTLVIKLLAPLGLH
LLPYSPRVLVSGICAAGSFVLVAFSHSVGTSLCGVVFASISSGLGEVTFLSLTAFYPRAV
ISWWSSGTGGAGLLGALSYLGLTQAGLSPQQTLLSMLGIPALLLASYFLLLTSPEAQDPG
GEEEAESAARQPLIRTEAPESKPGSSSSLSLRERWTVFKGLLWYIVPLVVVYFAEYFINQ
GLFELLFFWNTSLSHAQQYRWYQMLYQAGVFASRSSLRCCRIRFTWALALLQCLNLVFLL
ADVWFGFLPSIYLVFLIILYEGLLGGAAYVNTFHNIALETSDEHREFAMAATCISDTLGI
SLSGLLALPLHDFLCQLS
NT seq
1317 nt
NT seq
+upstream
nt +downstream
nt
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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