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

Gene name
CLN3, BTN1, BTS, JNCL
Definition
(RefSeq) CLN3 lysosomal/endosomal transmembrane protein, battenin
  KO
K12389  battenin
Organism
hsa  Homo sapiens (human)
Pathway
hsa04142  Lysosome
Disease
H00149  Neuronal ceroid lipofuscinosis
H02275  Batten disease
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  09141 Transport and catabolism
   04142 Lysosome
    1201 (CLN3)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: CLN3
Motif
Other DBs
NCBI-GeneID: 1201
NCBI-ProteinID: NP_000077
OMIM: 607042
HGNC: 2074
Ensembl: ENSG00000188603 ENSG00000261832
Vega: OTTHUMG00000097024 OTTHUMG00000175737
Pharos: Q13286(Tbio)
UniProt: Q13286 A0A024QZB8
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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