Q13286 (CLN3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Battenin

Alternative name(s):
Batten disease protein
Protein CLN3

Gene names

Name:	CLN3
Synonyms:	BTS

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	438 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Subcellular location	Lysosome membrane; Multi-pass membrane protein Ref.6 Ref.10.
Post-translational modification	Highly glycosylated.
Involvement in disease	Defects in CLN3 are the cause of neuronal ceroid lipofuscinosis type 3 (CLN3) [MIM:204200]; also known as Batten disease. 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 CLN3. Ref.14 Ref.15
Sequence similarities	Belongs to the battenin family.

Ontologies

Keywords
Cellular component	Lysosome Membrane
Coding sequence diversity	Alternative splicing
Disease	Disease mutation Neurodegeneration Neuronal ceroid lipofuscinosis
Domain	Transmembrane Transmembrane helix
PTM	Glycoprotein Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	amyloid precursor protein catabolic process Inferred from direct assay. Source: UniProtKB arginine transport Inferred from direct assay. Source: UniProtKB associative learning Inferred from sequence or structural similarity. Source: UniProtKB autophagic vacuole fusion Inferred from sequence or structural similarity. Source: UniProtKB cell death Inferred from electronic annotation. Source: UniProtKB-KW cellular amino acid metabolic process Inferred from sequence or structural similarity. Source: UniProtKB cytosolic calcium ion homeostasis Inferred from sequence or structural similarity. Source: UniProtKB galactosylceramide metabolic process Inferred from mutant phenotype. Source: UniProtKB globoside metabolic process Inferred from mutant phenotype. Source: UniProtKB glucosylceramide metabolic process Inferred from mutant phenotype. Source: UniProtKB ionotropic glutamate receptor signaling pathway Inferred from sequence or structural similarity. Source: UniProtKB lysosomal lumen acidification Inferred from mutant phenotype. Source: UniProtKB lysosomal lumen pH elevation Inferred from direct assay. Source: UniProtKB negative regulation of catalytic activity Inferred from sequence or structural similarity. Source: UniProtKB negative regulation of macroautophagy Inferred from sequence or structural similarity. Source: UniProtKB negative regulation of neuron apoptosis Inferred from sequence or structural similarity. Source: UniProtKB negative regulation of proteolysis Inferred from sequence or structural similarity. Source: UniProtKB neuromuscular process controlling balance Inferred from sequence or structural similarity. Source: UniProtKB neurotransmitter metabolic process Inferred from sequence or structural similarity. Source: UniProtKB protein catabolic process Non-traceable author statement. Source: UniProtKB protein folding Traceable author statement. Source: ProtInc protein processing Inferred from sequence or structural similarity. Source: UniProtKB receptor-mediated endocytosis Inferred from mutant phenotype. Source: UniProtKB regulation of action potential Inferred from sequence or structural similarity. Source: UniProtKB sphingomyelin metabolic process Inferred from mutant phenotype. Source: UniProtKB vacuolar transport Inferred from Biological aspect of Ancestor. Source: RefGenome
Cellular component	Golgi membrane Inferred from direct assay. Source: UniProtKB Golgi stack Inferred from direct assay. Source: UniProtKB autophagic vacuole Inferred from sequence or structural similarity. Source: UniProtKB caveola Inferred from direct assay. Source: UniProtKB cytosol Inferred from sequence or structural similarity. Source: GOC early endosome Inferred from direct assay. Source: UniProtKB integral to endoplasmic reticulum membrane Inferred from direct assay. Source: UniProtKB late endosome Inferred from sequence or structural similarity. Source: UniProtKB lysosomal membrane Inferred from direct assay. Source: UniProtKB membrane fraction Inferred from direct assay. Source: UniProtKB mitochondrion Traceable author statement. Source: ProtInc neuron projection Inferred from direct assay. Source: UniProtKB nucleus Inferred from direct assay. Source: UniProtKB synaptic vesicle Inferred from direct assay. Source: UniProtKB trans-Golgi network Inferred from direct assay. Source: UniProtKB
Molecular function	unfolded protein binding Traceable author statement. Source: ProtInc
Complete GO annotation...

Alternative products

This entry describes 5 isoforms produced by alternative splicing. [Align] [Select]

Note: Additional isoforms seem to exist.

Isoform 1 (identifier: Q13286-1)

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.

Isoform 2 (identifier: Q13286-2)

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

Isoform 3 (identifier: Q13286-3)

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

Isoform 4 (identifier: Q13286-4)

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.

Isoform 5 (identifier: Q13286-5)

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

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 438	438	Battenin		PRO_0000089857
Regions
	Transmembrane	38 – 58	21	Helical; Potential
	Transmembrane	99 – 119	21	Helical; Potential
	Transmembrane	128 – 148	21	Helical; Potential
	Transmembrane	180 – 200	21	Helical; Potential
	Transmembrane	212 – 232	21	Helical; Potential
	Transmembrane	278 – 298	21	Helical; Potential
	Transmembrane	358 – 378	21	Helical; Potential
	Transmembrane	407 – 427	21	Helical; Potential
Amino acid modifications
	Modified residue	12	1	Phosphoserine Ref.8 Ref.9 Ref.11 Ref.12 Ref.13
	Modified residue	14	1	Phosphoserine Ref.8 Ref.9 Ref.12 Ref.13
	Glycosylation	71	1	N-linked (GlcNAc...) Potential
	Glycosylation	85	1	N-linked (GlcNAc...) Potential
	Glycosylation	310	1	N-linked (GlcNAc...) Potential
Natural variations
	Alternative sequence	155 – 264	110	Missing in isoform 5.		VSP_004169
	Alternative sequence	178 – 225	48	Missing in isoform 2.		VSP_004166
	Alternative sequence	280 – 302	23	GLLWY…INQGL → VRMMAG in isoform 3.		VSP_004167
	Alternative sequence	322 – 438	117	Missing in isoform 4.		VSP_004168
	Alternative sequence	353 – 438	86	CLNLV…LCQLS → MESRSVAQAGM in isoform 5.		VSP_004170
	Natural variant	101	1	L → P in CLN3. Ref.14		VAR_005131
	Natural variant	134	1	C → R in CLN3.		VAR_066892
	Natural variant	170	1	L → P in CLN3. Ref.14		VAR_005132
	Natural variant	187	1	G → A in CLN3.		VAR_066893
	Natural variant	189	1	G → R in CLN3.		VAR_066894
	Natural variant	295	1	E → K in CLN3. Ref.14 Ref.15		VAR_005133
	Natural variant	330	1	V → F in CLN3. Ref.14		VAR_005134
	Natural variant	334	1	R → C in CLN3. Ref.14		VAR_005135
	Natural variant	334	1	R → H in CLN3. Ref.14		VAR_005136

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified November 1, 1996. Version 1. Checksum: BE25E973CEEC4FD5	FASTA	438	47,623
	10 20 30 40 50 60 MGGCAGSRRR FSDSEGEETV PEPRLPLLDH QGAHWKNAVG FWLLGLCNNF SYVVMLSAAH 70 80 90 100 110 120 DILSHKRTSG NQSHVDPGPT PIPHNSSSRF DCNSVSTAAV LLADILPTLV IKLLAPLGLH 130 140 150 160 170 180 LLPYSPRVLV SGICAAGSFV LVAFSHSVGT SLCGVVFASI SSGLGEVTFL SLTAFYPRAV 190 200 210 220 230 240 ISWWSSGTGG AGLLGALSYL GLTQAGLSPQ QTLLSMLGIP ALLLASYFLL LTSPEAQDPG 250 260 270 280 290 300 GEEEAESAAR QPLIRTEAPE SKPGSSSSLS LRERWTVFKG LLWYIVPLVV VYFAEYFINQ 310 320 330 340 350 360 GLFELLFFWN TSLSHAQQYR WYQMLYQAGV FASRSSLRCC RIRFTWALAL LQCLNLVFLL 370 380 390 400 410 420 ADVWFGFLPS IYLVFLIILY EGLLGGAAYV NTFHNIALET SDEHREFAMA ATCISDTLGI 430 SLSGLLALPL HDFLCQLS
	Isoform 2 [UniParc]. Checksum: 30722C86911C70C0	FASTA	390	42,829
	10 20 30 40 50 60 MGGCAGSRRR FSDSEGEETV PEPRLPLLDH QGAHWKNAVG FWLLGLCNNF SYVVMLSAAH 70 80 90 100 110 120 DILSHKRTSG NQSHVDPGPT PIPHNSSSRF DCNSVSTAAV LLADILPTLV IKLLAPLGLH 130 140 150 160 170 180 LLPYSPRVLV SGICAAGSFV LVAFSHSVGT SLCGVVFASI SSGLGEVTFL SLTAFYPSYF 190 200 210 220 230 240 LLLTSPEAQD PGGEEEAESA ARQPLIRTEA PESKPGSSSS LSLRERWTVF KGLLWYIVPL 250 260 270 280 290 300 VVVYFAEYFI NQGLFELLFF WNTSLSHAQQ YRWYQMLYQA GVFASRSSLR CCRIRFTWAL 310 320 330 340 350 360 ALLQCLNLVF LLADVWFGFL PSIYLVFLII LYEGLLGGAA YVNTFHNIAL ETSDEHREFA 370 380 390 MAATCISDTL GISLSGLLAL PLHDFLCQLS
	Isoform 3 [UniParc]. Checksum: 503A97EDF8B72CC3	FASTA	421	45,570
	10 20 30 40 50 60 MGGCAGSRRR FSDSEGEETV PEPRLPLLDH QGAHWKNAVG FWLLGLCNNF SYVVMLSAAH 70 80 90 100 110 120 DILSHKRTSG NQSHVDPGPT PIPHNSSSRF DCNSVSTAAV LLADILPTLV IKLLAPLGLH 130 140 150 160 170 180 LLPYSPRVLV SGICAAGSFV LVAFSHSVGT SLCGVVFASI SSGLGEVTFL SLTAFYPRAV 190 200 210 220 230 240 ISWWSSGTGG AGLLGALSYL GLTQAGLSPQ QTLLSMLGIP ALLLASYFLL LTSPEAQDPG 250 260 270 280 290 300 GEEEAESAAR QPLIRTEAPE SKPGSSSSLS LRERWTVFKV RMMAGFELLF FWNTSLSHAQ 310 320 330 340 350 360 QYRWYQMLYQ AGVFASRSSL RCCRIRFTWA LALLQCLNLV FLLADVWFGF LPSIYLVFLI 370 380 390 400 410 420 ILYEGLLGGA AYVNTFHNIA LETSDEHREF AMAATCISDT LGISLSGLLA LPLHDFLCQL S
	Isoform 4 [UniParc]. Checksum: 482F021A8FF39B63	FASTA	321	34,569
	10 20 30 40 50 60 MGGCAGSRRR FSDSEGEETV PEPRLPLLDH QGAHWKNAVG FWLLGLCNNF SYVVMLSAAH 70 80 90 100 110 120 DILSHKRTSG NQSHVDPGPT PIPHNSSSRF DCNSVSTAAV LLADILPTLV IKLLAPLGLH 130 140 150 160 170 180 LLPYSPRVLV SGICAAGSFV LVAFSHSVGT SLCGVVFASI SSGLGEVTFL SLTAFYPRAV 190 200 210 220 230 240 ISWWSSGTGG AGLLGALSYL GLTQAGLSPQ QTLLSMLGIP ALLLASYFLL LTSPEAQDPG 250 260 270 280 290 300 GEEEAESAAR QPLIRTEAPE SKPGSSSSLS LRERWTVFKG LLWYIVPLVV VYFAEYFINQ 310 320 GLFELLFFWN TSLSHAQQYR W
	Isoform 5 [UniParc]. Checksum: 5FFBAA4622A8DF52	FASTA	253	28,016
	10 20 30 40 50 60 MGGCAGSRRR FSDSEGEETV PEPRLPLLDH QGAHWKNAVG FWLLGLCNNF SYVVMLSAAH 70 80 90 100 110 120 DILSHKRTSG NQSHVDPGPT PIPHNSSSRF DCNSVSTAAV LLADILPTLV IKLLAPLGLH 130 140 150 160 170 180 LLPYSPRVLV SGICAAGSFV LVAFSHSVGT SLCGSSSSLS LRERWTVFKG LLWYIVPLVV 190 200 210 220 230 240 VYFAEYFINQ GLFELLFFWN TSLSHAQQYR WYQMLYQAGV FASRSSLRCC RIRFTWALAL 250 LQMESRSVAQ AGM

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Isolation of a novel gene underlying Batten disease, CLN3." Lerner T.J., Boustany R.-M.N., Anderson J.W., D'Arigo K.L., Schlumpf K., Buckler A.J., Gusella J.F., Haines J.L., Kremmidiotis G., Lensink I.L., Sutherland G.R., Callen D.F., Taschner P.E.M., de Vos N., van Ommen G.B., Breuning M.H., Doggett N.A., Meincke L.J. , Liu Z., Goodwin L.A., Tesmer J.G., Mitchison H.M., O'Rawe A.M., Munroe P.B., Jarvela I.E., Gardiner M.R., Mole S.E. Cell 82:949-957(1995) [PubMed: 7553855] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1). Tissue: Brain.
[2]	"Genomic structure and complete nucleotide sequence of the Batten disease gene, CLN3." Mitchison H.M., Munroe P.B., O'Rawe A.M., Taschner P.E.M., de Vos N., Kremmidiotis G., Lensink I., Munk A.C., D'Arigo K.L., Anderson J.W., Lerner T.J., Moyzis R.K., Callen D.F., Breuning M.H., Doggett N.A., Gardiner R.M., Mole S.E. Genomics 40:346-350(1997) [PubMed: 9119403] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[3]	"Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q." Loftus B.J., Kim U.-J., Sneddon V.P., Kalush F., Brandon R., Fuhrmann J., Mason T., Crosby M.L., Barnstead M., Cronin L., Mays A.D., Cao Y., Xu R.X., Kang H.-L., Mitchell S., Eichler E.E., Harris P.C., Venter J.C., Adams M.D. Genomics 60:295-308(1999) [PubMed: 10493829] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[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]	"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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Lung.
[6]	"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: 10191115] [Abstract] Cited for: SUBCELLULAR LOCATION.
[7]	"An unappreciated role for RNA surveillance." Hillman R.T., Green R.E., Brenner S.E. Genome Biol. 5:R8.1-R8.16(2004) [PubMed: 14759258] [Abstract] Cited for: SPLICE ISOFORM(S) THAT ARE POTENTIAL NMD TARGET(S).
[8]	"Large-scale characterization of HeLa cell nuclear phosphoproteins." Beausoleil S.A., Jedrychowski M., Schwartz D., Elias J.E., Villen J., Li J., Cohn M.A., Cantley L.C., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 101:12130-12135(2004) [PubMed: 15302935] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-12 AND SER-14, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[9]	"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: 17081983] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-12 AND SER-14, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[10]	"Integral and associated lysosomal membrane proteins." Schroeder B., Wrocklage C., Pan C., Jaeger R., Koesters B., Schaefer H., Elsaesser H.-P., Mann M., Hasilik A. Traffic 8:1676-1686(2007) [PubMed: 17897319] [Abstract] Cited for: SUBCELLULAR LOCATION [LARGE SCALE ANALYSIS], MASS SPECTROMETRY. Tissue: Placenta.
[11]	"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: 18691976] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-12, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[12]	"A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed: 18669648] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-12 AND SER-14, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[13]	"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: 19690332] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-12 AND SER-14, MASS SPECTROMETRY. Tissue: Leukemic T-cell.
[14]	"Spectrum of mutations in the Batten disease gene, CLN3." Munroe P.B., Mitchison H.M., O'Rawe A.M., Anderson J.W., Boustany R.-M.N., Lerner T.J., Taschner P.E.M., de Vos N., Breuning M.H., Gardiner R.M., Mole S.E. Am. J. Hum. Genet. 61:310-316(1997) [PubMed: 9311735] [Abstract] Cited for: VARIANTS CLN3 PRO-101; PRO-170; LYS-295; PHE-330; CYS-334 AND HIS-334.
[15]	"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: 9490299] [Abstract] Cited for: VARIANT CLN3 LYS-295.
[16]	"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. 0:0-0(2011) [PubMed: 21990111] [Abstract] Cited for: VARIANTS CLN3 PRO-101; ARG-134; PRO-170; ALA-187; ARG-189; LYS-295 AND HIS-334.
+	Additional computationally mapped references.

Web resources

NCL CLN3

Neural Ceroid Lipofuscinoses mutation db

Mutations of the CLN3 gene

Retina International's Scientific Newsletter

GeneReviews

Cross-references

Sequence databases
EMBL GenBank DDBJ	U32680 mRNA. Translation: AAB51075.1. X99832 Genomic DNA. Translation: CAA68148.1. AC002425 Genomic DNA. Translation: AAC05337.1. AC002544 Genomic DNA. Translation: AAC27430.1. 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. BC002394 mRNA. Translation: AAH02394.1. BC004433 mRNA. Translation: AAH04433.1.
IPI	IPI00012448. IPI00217835. IPI00217836. IPI00217837. IPI00217838.
PIR	A57219.
RefSeq	NP_000077.1. NM_000086.2. NP_001035897.1. NM_001042432.1.
UniGene	Hs.534667.
3D structure databases
ProteinModelPortal	Q13286.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q13286. 38 interactions.
STRING	Q13286.
PTM databases
PhosphoSite	Q13286.
Polymorphism databases
DMDM	2498243.
Proteomic databases
PRIDE	Q13286.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000359984; ENSP00000353073; ENSG00000188603. ENST00000360019; ENSP00000353116; ENSG00000188603.
GeneID	1201.
KEGG	hsa:1201.
UCSC	uc002dpo.1. human. uc002dpq.1. human. uc010byd.1. human. uc010bye.1. human.
Organism-specific databases
CTD	1201.
GeneCards	GC16M028488.
H-InvDB	HIX0013327.
HGNC	HGNC:2074. CLN3.
MIM	204200. phenotype. 607042. gene.
neXtProt	NX_Q13286.
Orphanet	228346. CLN3 disease.
PharmGKB	PA26601.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG16864.
HOVERGEN	HBG017297.
InParanoid	Q13286.
OMA	ACISDTL.
OrthoDB	EOG4TF0KG.
PhylomeDB	Q13286.
Gene expression databases
ArrayExpress	Q13286.
Bgee	Q13286.
CleanEx	HS_CLN3.
Genevestigator	Q13286.
GermOnline	ENSG00000188603. Homo sapiens.
Family and domain databases
InterPro	IPR003492. Battenin_disease_Cln3. IPR018460. Battenin_disease_Cln3_subgr. IPR016196. MFS_dom_general_subst_transpt. [Graphical view]
KO	K12389.
PANTHER	PTHR10981. Battenin. 1 hit.
Pfam	PF02487. CLN3. 1 hit. [Graphical view]
PIRSF	PIRSF015974. CLN3_BTN1. 1 hit.
PRINTS	PR01315. BATTENIN.
SUPFAM	SSF103473. MFS_gen_substrate_transporter. 1 hit.
ProtoNet	Search...
Other
NextBio	4959.
SOURCE	Search...

Entry information

Entry name

CLN3_HUMAN

Accession

Primary (citable) accession number: Q13286
Secondary accession number(s): O00668 , Q9UP09, Q9UP11, Q9UP12, Q9UP13, Q9UP14

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 1, 1997
Last sequence update:	November 1, 1996
Last modified:	January 25, 2012
This is version 111 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.