Battenin

This article is about the human gene. For other uses, see Cln3 (disambiguation).

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.

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)[1] Band 16p12.1 Start 28,474,111 bp[1] End 28,495,575 bp[1]
Gene location (Mouse) Chr. Chromosome 7 (mouse)[2] Band 7 F3|7 69.16 cM Start 126,571,207 bp[2] End 126,585,817 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) 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 BioGPS 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 Species Human Mouse Entrez 1201 12752 Ensembl ENSG00000188603 ENSMUSG00000030720 UniProt Q13286 Q61124 RefSeq (mRNA) NM_001286110 NM_000086 NM_001042432 NM_001286104 NM_001286105 NM_001286109 NM_001146311 NM_009907 NM_001329789 RefSeq (protein) 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 Location (UCSC) Chr 16: 28.47 – 28.5 Mb Chr 7: 126.57 – 126.59 Mb PubMed search [3] [4]
Wikidata
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Function

Battenin is involved in lysosomal function. Many alternatively spliced transcript variants have been found for this gene.^[6]

Battenin is a transmembrane protein predicted to be composed of 11 transmembrane helices,^[8] yet no crystal structure is available.

Clinical significance

Mutations in this gene, as well as other neuronal ceroid-lipofuscinosis (CLN) genes, cause neurodegenerative diseases commonly known as Batten disease, also known as Juvenile Neuronal Ceroid Lipofuscinosis (JNCL) or Juvenile Batten disease.