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Q13286

- CLN3_HUMAN

UniProt

Q13286 - CLN3_HUMAN

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Protein

Battenin

Gene

CLN3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

Involved in microtubule-dependent, anterograde transport of late endosomes and lysosomes.1 Publication

GO - Molecular functioni

  1. unfolded protein binding Source: ProtInc

GO - Biological processi

  1. action potential Source: UniProtKB
  2. amyloid precursor protein catabolic process Source: UniProtKB
  3. arginine transport Source: UniProtKB
  4. associative learning Source: UniProtKB
  5. autophagic vacuole fusion Source: UniProtKB
  6. cell death Source: UniProtKB-KW
  7. cellular amino acid metabolic process Source: UniProtKB
  8. ceramide metabolic process Source: UniProtKB
  9. cytosolic calcium ion homeostasis Source: UniProtKB
  10. galactosylceramide metabolic process Source: UniProtKB
  11. globoside metabolic process Source: UniProtKB
  12. glucosylceramide metabolic process Source: UniProtKB
  13. ionotropic glutamate receptor signaling pathway Source: UniProtKB
  14. lysosomal lumen acidification Source: UniProtKB
  15. lysosomal lumen pH elevation Source: UniProtKB
  16. lysosome organization Source: UniProtKB
  17. macroautophagy Source: UniProtKB
  18. membrane organization Source: UniProtKB
  19. negative regulation of apoptotic process Source: UniProtKB
  20. negative regulation of catalytic activity Source: UniProtKB
  21. negative regulation of macroautophagy Source: UniProtKB
  22. negative regulation of neuron apoptotic process Source: UniProtKB
  23. negative regulation of proteolysis Source: UniProtKB
  24. neuromuscular process controlling balance Source: UniProtKB
  25. neurotransmitter metabolic process Source: UniProtKB
  26. protein catabolic process Source: UniProtKB
  27. protein processing Source: UniProtKB
  28. receptor-mediated endocytosis Source: UniProtKB
  29. sphingomyelin metabolic process Source: UniProtKB
  30. vacuolar transport Source: RefGenome
  31. vesicle transport along microtubule Source: UniProtKB
Complete GO annotation...

Keywords - Biological processi

Transport

Names & Taxonomyi

Protein namesi
Recommended name:
Battenin
Alternative name(s):
Batten disease protein
Protein CLN3
Gene namesi
Name:CLN3
Synonyms:BTS
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 16

Organism-specific databases

HGNCiHGNC:2074. CLN3.

Subcellular locationi

Lysosome membrane 2 Publications; Multi-pass membrane protein 2 Publications. Late endosome 1 Publication

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 3737CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei38 – 5821HelicalSequence AnalysisAdd
BLAST
Topological domaini59 – 12769LumenalSequence AnalysisAdd
BLAST
Transmembranei128 – 14821HelicalSequence AnalysisAdd
BLAST
Topological domaini149 – 1513CytoplasmicSequence Analysis
Transmembranei152 – 17221HelicalSequence AnalysisAdd
BLAST
Topological domaini173 – 18210LumenalSequence Analysis
Transmembranei183 – 20321HelicalSequence AnalysisAdd
BLAST
Topological domaini204 – 27774CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei278 – 29821HelicalSequence AnalysisAdd
BLAST
Topological domaini299 – 34648LumenalSequence AnalysisAdd
BLAST
Transmembranei347 – 36721HelicalSequence AnalysisAdd
BLAST
Topological domaini368 – 43871CytoplasmicSequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. autophagic vacuole Source: UniProtKB
  2. caveola Source: UniProtKB
  3. cytoplasm Source: UniProtKB
  4. early endosome Source: UniProtKB
  5. endoplasmic reticulum Source: UniProtKB
  6. Golgi apparatus Source: UniProtKB
  7. Golgi membrane Source: UniProtKB
  8. Golgi stack Source: UniProtKB
  9. integral component of endoplasmic reticulum membrane Source: UniProtKB
  10. integral component of membrane Source: UniProtKB
  11. late endosome Source: UniProtKB
  12. lysosomal membrane Source: UniProtKB
  13. lysosome Source: UniProtKB
  14. membrane raft Source: UniProtKB
  15. mitochondrion Source: ProtInc
  16. neuron projection Source: UniProtKB
  17. nucleus Source: UniProtKB
  18. plasma membrane Source: UniProtKB
  19. synaptic vesicle Source: UniProtKB
  20. trans-Golgi network Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Endosome, Lysosome, Membrane

Pathology & Biotechi

Involvement in diseasei

Ceroid lipofuscinosis, neuronal, 3 (CLN3) [MIM:204200]: A form of neuronal ceroid lipofuscinosis. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, visual loss, and/or cerebral atrophy. The hallmark of CLN3 is the ultrastructural pattern of lipopigment with a fingerprint profile, which can have 3 different appearances: pure within a lysosomal residual body; in conjunction with curvilinear or rectilinear profiles; and as a small component within large membrane-bound lysosomal vacuoles. The combination of fingerprint profiles within lysosomal vacuoles is a regular feature of blood lymphocytes from patients with neuronal ceroid lipofuscinosis type 3.3 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti101 – 1011L → P in CLN3. 2 Publications
VAR_005131
Natural varianti134 – 1341C → R in CLN3. 1 Publication
VAR_066892
Natural varianti170 – 1701L → P in CLN3. 2 Publications
VAR_005132
Natural varianti187 – 1871G → A in CLN3. 1 Publication
VAR_066893
Natural varianti189 – 1891G → R in CLN3. 1 Publication
VAR_066894
Natural varianti295 – 2951E → K in CLN3; the mutant is located to vesicles clustered in a perinuclear region. 3 Publications
VAR_005133
Natural varianti330 – 3301V → F in CLN3. 1 Publication
VAR_005134
Natural varianti334 – 3341R → C in CLN3. 1 Publication
VAR_005135
Natural varianti334 – 3341R → H in CLN3. 2 Publications
VAR_005136

Keywords - Diseasei

Disease mutation, Neurodegeneration, Neuronal ceroid lipofuscinosis

Organism-specific databases

MIMi204200. phenotype.
Orphaneti228346. CLN3 disease.
PharmGKBiPA26601.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 435435BatteninPRO_0000089857Add
BLAST
Propeptidei436 – 4383Removed in mature formCuratedPRO_0000422290

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei12 – 121Phosphoserine4 Publications
Modified residuei14 – 141Phosphoserine4 Publications
Glycosylationi71 – 711N-linked (GlcNAc...)1 Publication
Glycosylationi85 – 851N-linked (GlcNAc...)1 Publication
Glycosylationi310 – 3101N-linked (GlcNAc...)Sequence Analysis
Modified residuei435 – 4351Cysteine methyl esterCurated
Lipidationi435 – 4351S-farnesyl cysteine1 Publication

Post-translational modificationi

Highly glycosylated.1 Publication
Farnesylation is important for trafficking to lysosomes.

Keywords - PTMi

Glycoprotein, Lipoprotein, Methylation, Phosphoprotein, Prenylation

Proteomic databases

PaxDbiQ13286.
PRIDEiQ13286.

PTM databases

PhosphoSiteiQ13286.

Expressioni

Gene expression databases

BgeeiQ13286.
CleanExiHS_CLN3.
ExpressionAtlasiQ13286. baseline.
GenevestigatoriQ13286.

Interactioni

Subunit structurei

Interacts with DCTN1 and KIF3A. Interacts with RAB7A and RILP.1 Publication

Protein-protein interaction databases

BioGridi107612. 92 interactions.
IntActiQ13286. 36 interactions.
STRINGi9606.ENSP00000353073.

Structurei

3D structure databases

ProteinModelPortaliQ13286.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the battenin family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG325947.
GeneTreeiENSGT00390000003249.
HOVERGENiHBG017297.
InParanoidiQ13286.
KOiK12389.
OMAiNYGYVVM.
OrthoDBiEOG7N8ZZQ.
PhylomeDBiQ13286.
TreeFamiTF314055.

Family and domain databases

InterProiIPR003492. Battenin_disease_Cln3.
IPR018460. Battenin_disease_Cln3_subgr.
IPR016196. MFS_dom_general_subst_transpt.
[Graphical view]
PANTHERiPTHR10981. PTHR10981. 1 hit.
PfamiPF02487. CLN3. 1 hit.
[Graphical view]
PIRSFiPIRSF015974. CLN3_BTN1. 1 hit.
PRINTSiPR01315. BATTENIN.
SUPFAMiSSF103473. SSF103473. 1 hit.

Sequences (6)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 6 isoformsi produced by alternative splicing. Align

Note: Additional isoforms seem to exist.

Isoform 1 (identifier: Q13286-1) [UniParc]FASTAAdd to Basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MGGCAGSRRR FSDSEGEETV PEPRLPLLDH QGAHWKNAVG FWLLGLCNNF
60 70 80 90 100
SYVVMLSAAH DILSHKRTSG NQSHVDPGPT PIPHNSSSRF DCNSVSTAAV
110 120 130 140 150
LLADILPTLV IKLLAPLGLH LLPYSPRVLV SGICAAGSFV LVAFSHSVGT
160 170 180 190 200
SLCGVVFASI SSGLGEVTFL SLTAFYPRAV ISWWSSGTGG AGLLGALSYL
210 220 230 240 250
GLTQAGLSPQ QTLLSMLGIP ALLLASYFLL LTSPEAQDPG GEEEAESAAR
260 270 280 290 300
QPLIRTEAPE SKPGSSSSLS LRERWTVFKG LLWYIVPLVV VYFAEYFINQ
310 320 330 340 350
GLFELLFFWN TSLSHAQQYR WYQMLYQAGV FASRSSLRCC RIRFTWALAL
360 370 380 390 400
LQCLNLVFLL ADVWFGFLPS IYLVFLIILY EGLLGGAAYV NTFHNIALET
410 420 430
SDEHREFAMA ATCISDTLGI SLSGLLALPL HDFLCQLS
Length:438
Mass (Da):47,623
Last modified:November 1, 1996 - v1
Checksum:iBE25E973CEEC4FD5
GO
Isoform 2 (identifier: Q13286-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     178-225: Missing.

Show »
Length:390
Mass (Da):42,829
Checksum:i30722C86911C70C0
GO
Isoform 3 (identifier: Q13286-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     280-302: GLLWYIVPLVVVYFAEYFINQGL → VRMMAG

Show »
Length:421
Mass (Da):45,570
Checksum:i503A97EDF8B72CC3
GO
Isoform 4 (identifier: Q13286-4) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     322-438: Missing.

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

Show »
Length:321
Mass (Da):34,569
Checksum:i482F021A8FF39B63
GO
Isoform 5 (identifier: Q13286-5) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     155-264: Missing.
     353-438: CLNLVFLLAD...PLHDFLCQLS → MESRSVAQAGM

Show »
Length:253
Mass (Da):28,016
Checksum:i5FFBAA4622A8DF52
GO
Isoform 6 (identifier: Q13286-6) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     99-127: AVLLADILPTLVIKLLAPLGLHLLPYSPR → PPGSRQWDLCCWKLRPGCLFSFCGDQPVC
     128-226: Missing.

Show »
Length:339
Mass (Da):37,969
Checksum:iDD2C9A3D0A6B022D
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti259 – 2591P → L in BAG35838. (PubMed:14702039)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti101 – 1011L → P in CLN3. 2 Publications
VAR_005131
Natural varianti134 – 1341C → R in CLN3. 1 Publication
VAR_066892
Natural varianti170 – 1701L → P in CLN3. 2 Publications
VAR_005132
Natural varianti187 – 1871G → A in CLN3. 1 Publication
VAR_066893
Natural varianti189 – 1891G → R in CLN3. 1 Publication
VAR_066894
Natural varianti295 – 2951E → K in CLN3; the mutant is located to vesicles clustered in a perinuclear region. 3 Publications
VAR_005133
Natural varianti330 – 3301V → F in CLN3. 1 Publication
VAR_005134
Natural varianti334 – 3341R → C in CLN3. 1 Publication
VAR_005135
Natural varianti334 – 3341R → H in CLN3. 2 Publications
VAR_005136

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei99 – 12729AVLLA…PYSPR → PPGSRQWDLCCWKLRPGCLF SFCGDQPVC in isoform 6. 1 PublicationVSP_047631Add
BLAST
Alternative sequencei128 – 22699Missing in isoform 6. 1 PublicationVSP_047632Add
BLAST
Alternative sequencei155 – 264110Missing in isoform 5. 1 PublicationVSP_004169Add
BLAST
Alternative sequencei178 – 22548Missing in isoform 2. 1 PublicationVSP_004166Add
BLAST
Alternative sequencei280 – 30223GLLWY…INQGL → VRMMAG in isoform 3. 1 PublicationVSP_004167Add
BLAST
Alternative sequencei322 – 438117Missing in isoform 4. 1 PublicationVSP_004168Add
BLAST
Alternative sequencei353 – 43886CLNLV…LCQLS → MESRSVAQAGM in isoform 5. 1 PublicationVSP_004170Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U32680 mRNA. Translation: AAB51075.1.
X99832 Genomic DNA. Translation: CAA68148.1.
AF015593 mRNA. Translation: AAD01555.1.
AF015598 mRNA. Translation: AAD01560.1.
AF077956 mRNA. Translation: AAD51478.1.
AF077957 mRNA. Translation: AAD51479.1.
AF077958 mRNA. Translation: AAD51480.1.
AF077959 mRNA. Translation: AAD51481.1.
AF077961 mRNA. Translation: AAD51483.1.
AF077962 mRNA. Translation: AAD51484.1.
AF077966 mRNA. Translation: AAD51488.1.
AF077960 mRNA. Translation: AAD51482.1.
AF077963 mRNA. Translation: AAD51485.1.
AF077965 mRNA. Translation: AAD51487.1.
AF077971 mRNA. Translation: AAD51493.1.
AF077972 mRNA. Translation: AAD51494.1.
AF078169 mRNA. Translation: AAD48543.1.
AK313002 mRNA. Translation: BAG35838.1.
AC002425 Genomic DNA. Translation: AAC05337.1.
AC002544 Genomic DNA. Translation: AAC27430.1.
AC138894 Genomic DNA. No translation available.
CH471279 Genomic DNA. Translation: EAW52281.1.
CH471279 Genomic DNA. Translation: EAW52286.1.
BC002394 mRNA. Translation: AAH02394.1.
BC004433 mRNA. Translation: AAH04433.1.
CCDSiCCDS10632.1. [Q13286-1]
PIRiA57219.
RefSeqiNP_000077.1. NM_000086.2. [Q13286-1]
NP_001035897.1. NM_001042432.1. [Q13286-1]
UniGeneiHs.534667.

Genome annotation databases

EnsembliENST00000357806; ENSP00000350457; ENSG00000188603. [Q13286-6]
ENST00000360019; ENSP00000353116; ENSG00000188603. [Q13286-1]
ENST00000565316; ENSP00000456117; ENSG00000188603. [Q13286-3]
ENST00000569030; ENSP00000454680; ENSG00000188603. [Q13286-5]
ENST00000569430; ENSP00000454229; ENSG00000188603. [Q13286-1]
GeneIDi1201.
KEGGihsa:1201.
UCSCiuc002dpm.3. human. [Q13286-1]
uc002dpq.1. human. [Q13286-2]
uc002dps.1. human.
uc010bye.1. human. [Q13286-3]

Polymorphism databases

DMDMi2498243.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Web resourcesi

NCL CLN3

Neural Ceroid Lipofuscinoses mutation db

Mutations of the CLN3 gene

Retina International's Scientific Newsletter

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U32680 mRNA. Translation: AAB51075.1 .
X99832 Genomic DNA. Translation: CAA68148.1 .
AF015593 mRNA. Translation: AAD01555.1 .
AF015598 mRNA. Translation: AAD01560.1 .
AF077956 mRNA. Translation: AAD51478.1 .
AF077957 mRNA. Translation: AAD51479.1 .
AF077958 mRNA. Translation: AAD51480.1 .
AF077959 mRNA. Translation: AAD51481.1 .
AF077961 mRNA. Translation: AAD51483.1 .
AF077962 mRNA. Translation: AAD51484.1 .
AF077966 mRNA. Translation: AAD51488.1 .
AF077960 mRNA. Translation: AAD51482.1 .
AF077963 mRNA. Translation: AAD51485.1 .
AF077965 mRNA. Translation: AAD51487.1 .
AF077971 mRNA. Translation: AAD51493.1 .
AF077972 mRNA. Translation: AAD51494.1 .
AF078169 mRNA. Translation: AAD48543.1 .
AK313002 mRNA. Translation: BAG35838.1 .
AC002425 Genomic DNA. Translation: AAC05337.1 .
AC002544 Genomic DNA. Translation: AAC27430.1 .
AC138894 Genomic DNA. No translation available.
CH471279 Genomic DNA. Translation: EAW52281.1 .
CH471279 Genomic DNA. Translation: EAW52286.1 .
BC002394 mRNA. Translation: AAH02394.1 .
BC004433 mRNA. Translation: AAH04433.1 .
CCDSi CCDS10632.1. [Q13286-1 ]
PIRi A57219.
RefSeqi NP_000077.1. NM_000086.2. [Q13286-1 ]
NP_001035897.1. NM_001042432.1. [Q13286-1 ]
UniGenei Hs.534667.

3D structure databases

ProteinModelPortali Q13286.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 107612. 92 interactions.
IntActi Q13286. 36 interactions.
STRINGi 9606.ENSP00000353073.

PTM databases

PhosphoSitei Q13286.

Polymorphism databases

DMDMi 2498243.

Proteomic databases

PaxDbi Q13286.
PRIDEi Q13286.

Protocols and materials databases

DNASUi 1201.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000357806 ; ENSP00000350457 ; ENSG00000188603 . [Q13286-6 ]
ENST00000360019 ; ENSP00000353116 ; ENSG00000188603 . [Q13286-1 ]
ENST00000565316 ; ENSP00000456117 ; ENSG00000188603 . [Q13286-3 ]
ENST00000569030 ; ENSP00000454680 ; ENSG00000188603 . [Q13286-5 ]
ENST00000569430 ; ENSP00000454229 ; ENSG00000188603 . [Q13286-1 ]
GeneIDi 1201.
KEGGi hsa:1201.
UCSCi uc002dpm.3. human. [Q13286-1 ]
uc002dpq.1. human. [Q13286-2 ]
uc002dps.1. human.
uc010bye.1. human. [Q13286-3 ]

Organism-specific databases

CTDi 1201.
GeneCardsi GC16M028488.
GeneReviewsi CLN3.
HGNCi HGNC:2074. CLN3.
MIMi 204200. phenotype.
607042. gene.
neXtProti NX_Q13286.
Orphaneti 228346. CLN3 disease.
PharmGKBi PA26601.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG325947.
GeneTreei ENSGT00390000003249.
HOVERGENi HBG017297.
InParanoidi Q13286.
KOi K12389.
OMAi NYGYVVM.
OrthoDBi EOG7N8ZZQ.
PhylomeDBi Q13286.
TreeFami TF314055.

Miscellaneous databases

GeneWikii CLN3.
GenomeRNAii 1201.
NextBioi 4959.
PROi Q13286.
SOURCEi Search...

Gene expression databases

Bgeei Q13286.
CleanExi HS_CLN3.
ExpressionAtlasi Q13286. baseline.
Genevestigatori Q13286.

Family and domain databases

InterProi IPR003492. Battenin_disease_Cln3.
IPR018460. Battenin_disease_Cln3_subgr.
IPR016196. MFS_dom_general_subst_transpt.
[Graphical view ]
PANTHERi PTHR10981. PTHR10981. 1 hit.
Pfami PF02487. CLN3. 1 hit.
[Graphical view ]
PIRSFi PIRSF015974. CLN3_BTN1. 1 hit.
PRINTSi PR01315. BATTENIN.
SUPFAMi SSF103473. SSF103473. 1 hit.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    Tissue: Brain.
  2. Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  3. "Unique alternative spliced transcripts associated with the 56 chromosome haplotype allele of the Batten disease gene, CLN3."
    LaFauci G., Papini M., Pullarkat R., Rubenstein R.
    Submitted (JUL-1997) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 6).
  4. "Characterization of alternatively spliced transcripts of the Batten disease CLN3 gene in human lymphoblastoid cell lines."
    LaFauci G., Kaczmarski W., Papini M., Pullarkat R.K., Wisniewski K.E., Zhong N., Rubenstein R.
    Submitted (JUL-1998) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2; 3; 4 AND 5).
  5. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Cerebellum.
  6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  7. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  8. "The sequence and analysis of duplication-rich human chromosome 16."
    Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G., Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E., Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J.
    , Buckingham J.M., Callen D.F., Campbell C.S., Campbell M.L., Campbell E.W., Caoile C., Challacombe J.F., Chasteen L.A., Chertkov O., Chi H.C., Christensen M., Clark L.M., Cohn J.D., Denys M., Detter J.C., Dickson M., Dimitrijevic-Bussod M., Escobar J., Fawcett J.J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Goodwin L.A., Grady D.L., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E., Huang W., Israni S., Jett J., Jewett P.B., Kadner K., Kimball H., Kobayashi A., Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y., Lowry S., Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J., Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D., Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L., Rash S., Retterer J., Ricke D.O., Robinson D.L., Rodriguez A., Salamov A., Saunders E.H., Scott D., Shough T., Stallings R.L., Stalvey M., Sutherland R.D., Tapia R., Tesmer J.G., Thayer N., Thompson L.S., Tice H., Torney D.C., Tran-Gyamfi M., Tsai M., Ulanovsky L.E., Ustaszewska A., Vo N., White P.S., Williams A.L., Wills P.L., Wu J.-R., Wu K., Yang J., DeJong P., Bruce D., Doggett N.A., Deaven L., Schmutz J., Grimwood J., Richardson P., Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M., Myers R.M., Rubin E.M., Pennacchio L.A.
    Nature 432:988-994(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  9. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Lung.
  10. "Expression studies of CLN3 protein (battenin) in fusion with the green fluorescent protein in mammalian cells in vitro."
    Golabek A.A., Kaczmarski W., Kida E., Kaczmarski A., Michalewski M.P., Wisniewski K.E.
    Mol. Genet. Metab. 66:277-282(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBCELLULAR LOCATION.
  11. Cited for: SPLICE ISOFORM(S) THAT ARE POTENTIAL NMD TARGET(S).
  12. "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks."
    Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M.
    Cell 127:635-648(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  13. "C-terminal prenylation of the CLN3 membrane glycoprotein is required for efficient endosomal sorting to lysosomes."
    Storch S., Pohl S., Quitsch A., Falley K., Braulke T.
    Traffic 8:431-444(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBCELLULAR LOCATION, GLYCOSYLATION AT ASN-71 AND ASN-85, ISOPRENYLATION AT CYS-435.
  14. Cited for: SUBCELLULAR LOCATION [LARGE SCALE ANALYSIS].
    Tissue: Placenta.
  15. "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle."
    Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R., Greff Z., Keri G., Stemmann O., Mann M.
    Mol. Cell 31:438-448(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  16. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-12 AND SER-14, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  17. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
    Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
    Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-12 AND SER-14, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Leukemic T-cell.
  18. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
    Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
    Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-12 AND SER-14, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  19. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
    Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
    Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-12 AND SER-14, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  20. "Neuronal ceroid lipofuscinosis protein CLN3 interacts with motor proteins and modifies location of late endosomal compartments."
    Uusi-Rauva K., Kyttala A., van der Kant R., Vesa J., Tanhuanpaa K., Neefjes J., Olkkonen V.M., Jalanko A.
    Cell. Mol. Life Sci. 69:2075-2089(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION IN ANTEROGRADE TRANSPORT OF LATE ENDOSOMES AND LYSOSOMES, SUBCELLULAR LOCATION, INTERACTION WITH DCTN1; KIF3A; RAB7A AND RILP, CHARACTERIZATION OF VARIANT CLN3 LYS-295.
  21. Cited for: TOPOLOGY.
  22. Cited for: VARIANTS CLN3 PRO-101; PRO-170; LYS-295; PHE-330; CYS-334 AND HIS-334.
  23. "Molecular screening of Batten disease: identification of a missense mutation (E295K) in the CLN3 gene."
    Zhong N., Wisniewski K.E., Kaczmarski A.L., Ju W., Xu W.M., Xu W.W., McLendon L., Liu B., Kaczmarski W., Brooks S.S., Brown W.T.
    Hum. Genet. 102:57-62(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT CLN3 LYS-295.
  24. "Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses."
    Kousi M., Lehesjoki A.E., Mole S.E.
    Hum. Mutat. 33:42-63(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS CLN3 PRO-101; ARG-134; PRO-170; ALA-187; ARG-189; LYS-295 AND HIS-334.

Entry informationi

Entry nameiCLN3_HUMAN
AccessioniPrimary (citable) accession number: Q13286
Secondary accession number(s): B2R7J1
, O00668, O95089, Q549S9, Q9UP09, Q9UP11, Q9UP12, Q9UP13, Q9UP14
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: November 1, 1996
Last modified: November 26, 2014
This is version 142 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3