Battenin

CLN3
Identifiers
Aliases	CLN3, BTS, JNCL, ceroid-lipofuscinosis, neuronal 3, battenin, BTN1, CLN3 lysosomal/endosomal transmembrane protein, battenin
External IDs	OMIM: 607042; MGI: 107537; HomoloGene: 37259; GeneCards: CLN3; OMA:CLN3 - orthologs
Gene location (Human)
Chr.	Chromosome 16 (human)
End	28,495,575 bp
Gene location (Mouse)
Chr.	Chromosome 7 (mouse)
End	126,585,817 bp
RNA expression pattern
	Top expressed in
	mucosa of transverse colon; ; placenta; ; granulocyte; ; blood; ; monocyte; ; epithelium of colon; ; rectum; ; right adrenal cortex; ; left adrenal gland; ; right lobe of thyroid gland;
	Top expressed in
	granulocyte; ; neural layer of retina; ; morula; ; yolk sac; ; lip; ; right kidney; ; zygote; ; choroid plexus of fourth ventricle; ; blastocyst; ; internal carotid artery;
	More reference expression data
	; ;
	More reference expression data
Gene ontology
Molecular function	unfolded protein binding; protein binding;
Cellular component	cytoplasm; integral component of membrane; endosome; late endosome; Golgi apparatus; membrane; synaptic vesicle; Golgi membrane; plasma membrane; autophagosome; lysosomal membrane; integral component of endoplasmic reticulum membrane; trans-Golgi network; early endosome; endoplasmic reticulum; mitochondrion; caveola; membrane raft; neuron projection; Golgi stack; lysosome; nucleus;
Biological process	negative regulation of neuron apoptotic process; negative regulation of proteolysis; lysosomal lumen acidification; negative regulation of catalytic activity; galactosylceramide metabolic process; associative learning; regulation of cytosolic calcium ion concentration; neuromuscular process controlling balance; ceramide metabolic process; vesicle transport along microtubule; cellular amino acid metabolic process; neurotransmitter metabolic process; protein processing; negative regulation of apoptotic process; receptor-mediated endocytosis; lysosomal lumen pH elevation; globoside metabolic process; glucosylceramide metabolic process; autophagosome maturation; protein catabolic process; ionotropic glutamate receptor signaling pathway; action potential; membrane organization; lysosome organization; macroautophagy; amyloid precursor protein catabolic process; sphingomyelin metabolic process; vacuolar transport; transport; regulation of intracellular pH;
	Sources:Amigo / QuickGO
Orthologs
	1201
	12752
	ENSG00000188603
	ENSMUSG00000030720
	Q13286
	Q61124
NM_001286110; NM_000086; NM_001042432; NM_001286104; NM_001286105;
	NM_001286109
	NM_001146311; NM_009907; NM_001329789
NP_000077; NP_001035897; NP_001273033; NP_001273034; NP_001273038;
	NP_001273039
NP_001139783; NP_001316718; NP_034037; NP_001389644; NP_001389645;
	NP_001389646; NP_001389647; NP_001389648; NP_001389649; NP_001389650; NP_001389651
	Wikidata
View/Edit Human	View/Edit Mouse

Battenin is a protein that in humans is encoded by the CLN3 gene located on chromosome 16.^[5]^[6] Battenin is not clustered into any Pfam clan, but it is included in the TCDB suggesting that it is a transporter.^[7] In humans, it belongs to the atypical SLCs^[7]^[8] due to its structural and phylogenetic similarity to other SLC transporters.

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000188603 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000030720 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Rusyn E, Mousallem T, Persaud-Sawin DA, Miller S, Boustany RM (June 2008). "CLN3p impacts galactosylceramide transport, raft morphology, and lipid content". Pediatric Research. 63 (6): 625–31. doi:10.1203/PDR.0b013e31816fdc17. PMID 18317235.
^ "Entrez Gene: CLN3 ceroid-lipofuscinosis, neuronal 3, juvenile (Batten, Spielmeyer-Vogt disease)".
^ ^a ^b Perland E, Fredriksson R (March 2017). "Classification Systems of Secondary Active Transporters". Trends in Pharmacological Sciences. 38 (3): 305–315. doi:10.1016/j.tips.2016.11.008. PMID 27939446.
^ Perland E, Bagchi S, Klaesson A, Fredriksson R (September 2017). "Characteristics of 29 novel atypical solute carriers of major facilitator superfamily type: evolutionary conservation, predicted structure and neuronal co-expression". Open Biology. 7 (9): 170142. doi:10.1098/rsob.170142. PMC 5627054. PMID 28878041.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000188603 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000030720 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid18317235-5] Rusyn E, Mousallem T, Persaud-Sawin DA, Miller S, Boustany RM (June 2008). "CLN3p impacts galactosylceramide transport, raft morphology, and lipid content". Pediatric Research. 63 (6): 625–31. doi:10.1203/PDR.0b013e31816fdc17. PMID 18317235.

[entrez-6] "Entrez Gene: CLN3 ceroid-lipofuscinosis, neuronal 3, juvenile (Batten, Spielmeyer-Vogt disease)".

[:0-7] Perland E, Fredriksson R (March 2017). "Classification Systems of Secondary Active Transporters". Trends in Pharmacological Sciences. 38 (3): 305–315. doi:10.1016/j.tips.2016.11.008. PMID 27939446.

[:1-8] Perland E, Bagchi S, Klaesson A, Fredriksson R (September 2017). "Characteristics of 29 novel atypical solute carriers of major facilitator superfamily type: evolutionary conservation, predicted structure and neuronal co-expression". Open Biology. 7 (9): 170142. doi:10.1098/rsob.170142. PMC 5627054. PMID 28878041.

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