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protein coding gene - btn1 (SPAC607.09c) - battenin CLN3 family protein

Gene summary

Standard name
btn1
Systematic ID
SPAC607.09c
Product
battenin CLN3 family protein
Organism
Schizosaccharomyces pombe (fission yeast)
Synonyms
cln3
UniProt ID
Q9US09
ORFeome ID
18/18H12
Characterisation status
biological role published
Feature type
mRNA gene
Genomic location
chromosome I: 2050462..2051748 reverse strand

Annotation

Complementation

PBO:0001311 - functionally complemented by human CLN3

References:

PBO:0024829 - functionally complements human CLN3

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Disease association

MONDO:0019118 - inherited retinal dystrophy

References:

MONDO:0002561 - lysosomal storage disease

References:

MONDO:0005066 - metabolic disease

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MONDO:0005071 - nervous system disorder

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MONDO:0008767 - neuronal ceroid lipofuscinosis 3

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MONDO:0981164 - retinitis pigmentosa 101

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GO biological process

GO:1903826 - L-arginine transmembrane transport

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GO:0006898 - receptor-mediated endocytosis

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GO:0047496 - vesicle transport along microtubule

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GO cellular component

GO:0032153 - cell division site

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GO:0051286 - cell tip

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GO:0005737 - cytoplasm

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GO:0005783 - endoplasmic reticulum

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GO:0005789 - endoplasmic reticulum membrane

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GO:0000329 - fungal-type vacuole membrane

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GO:0005794 - Golgi apparatus

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GO:0005770 - late endosome

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Modification

MOD:00437 - farnesylated residue

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Multi-locus phenotype

FYPO:0003984 - altered cellular amino acid level during vegetative growth

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Genotypes:

FYPO:0000565 - increased cellular respiration

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Genotypes:

Protein sequence feature

SO:0001812 - transmembrane_helix

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Qualitative gene expression

PomGeneEx:0000018 - protein level increased

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PomGeneEx:0000011 - RNA level increased

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Quantitative gene expression

PBO:0006310 - protein level

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PBO:0011963 - RNA level

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Single locus phenotype

FYPO:0000135 - abnormal plasma membrane sterol distribution

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Genotypes:

FYPO:0004964 - actin cortical patches present in decreased numbers

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Genotypes:

FYPO:0000422 - decreased endocytosis during vegetative growth

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Genotypes:

FYPO:0003150 - decreased NETO

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Genotypes:

FYPO:0001586 - decreased protein localization to cell tip during vegetative growth

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Genotypes:

FYPO:0002719 - decreased protein localization to septum

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Genotypes:

FYPO:0004965 - inviable swollen pear-shaped vegetative cell

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Genotypes:

FYPO:0001387 - loss of viability at high temperature

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Genotypes:

FYPO:0001019 - monopolar actin cortical patch localization during vegetative growth

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Genotypes:

FYPO:0000674 - normal cell population growth at high temperature

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Genotypes:

FYPO:0004963 - normal plasma membrane sterol distribution

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Genotypes:

FYPO:0001587 - normal protein localization to cell tip during vegetative growth

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Genotypes:

FYPO:0003414 - normal protein localization to septum

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Genotypes:

FYPO:0000763 - resistance to cadmium

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Genotypes:

FYPO:0009038 - resistance to egtazic acid

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Genotypes:

FYPO:0009043 - resistance to potassium chloride and sodium dodecyl sulfate

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Genotypes:

FYPO:0002767 - resistance to terbinafine

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Genotypes:

FYPO:0000104 - sensitive to cycloheximide

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Genotypes:

FYPO:0000647 - vegetative cell lysis

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Genotypes:

FYPO:0002060 - viable vegetative cell population

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Genotypes:

FYPO:0002177 - viable vegetative cell with normal cell morphology

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Genotypes:

Taxonomic conservation

PBO:0011065 - conserved in eukaryotes

PBO:0011071 - conserved in eukaryotes only

PBO:0011064 - conserved in fungi

PBO:0011069 - conserved in metazoa

PBO:0011070 - conserved in vertebrates

PBO:0006222 - predominantly single copy (one to one)

Protein features

IDNameInterPro nameDB name
PF02487CLN3Battenin_disease_Cln3Pfam
PR01315BATTENINBattenin_disease_Cln3PRINTS
SSF103473MFS_trans_sfSUPERFAMILY
PTHR10981Battenin_disease_Cln3PANTHER
PIRSF015974CLN3_BTN1Battenin_disease_Cln3_subgrPIRSF
Transmembrane alpha helixDeepTMHMM

Orthologs

References / Literature

GO_REF:0000033 - Annotation inferences using phylogenetic trees
PMID:20473289 - Analysis of a genome-wide set of gene deletions in the fission yeast Schizosaccharomyces pombe.
Kim DU et al. Nat Biotechnol 2010 Jun;28(6):617-623
PMID:23697806 - A genome-wide resource of cell cycle and cell shape genes of fission yeast.
Hayles J et al. Open Biol 2013 May 22;3(5):130053
PMID:28281664 - Genetic interactions and functional analyses of the fission yeast gsk3 and amk2 single and double mutants defective in TORC1-dependent processes.
Rallis C et al. Sci Rep 2017 Mar 10;7:44257
PMID:37787768 - Broad functional profiling of fission yeast proteins using phenomics and machine learning.
Rodríguez-López M et al. Elife 2023 Oct 03;12
PMID:21511999 - Comparative functional genomics of the fission yeasts.
Rhind N et al. Science 2011 May 20;332(6032):930-6
PMID:11152613 - Predicting transmembrane protein topology with a hidden Markov model: application to complete genomes.
Krogh A et al. J Mol Biol 2001 Jan 19;305(3):567-80
PMID:30446867 - Clinical and molecular characterization of non-syndromic retinal dystrophy due to c.175G>A mutation in ceroid lipofuscinosis neuronal 3 (CLN3).
Chen FK et al. Doc Ophthalmol 2019 Feb;138(1):55-70
PMID:39367033 - Quantitative proteomics and phosphoproteomics profiling of meiotic divisions in the fission yeast Schizosaccharomyces pombe.
Sivakova B et al. Sci Rep 2024 Oct 04;14(1):23105
PMID:16291725 - btn1, the Schizosaccharomyces pombe homologue of the human Batten disease gene CLN3, regulates vacuole homeostasis.
Gachet Y et al. J Cell Sci 2005 Dec 01;118(Pt 23):5525-36
GO_REF:0000036 - Manual annotations that require more than one source of functional data to support the assignment of the associated GO term
PMID:18346214 - btn1 affects endocytosis, polarization of sterol-rich membrane domains and polarized growth in Schizosaccharomyces pombe.
Codlin S et al. Traffic 2008 Jun;9(6):936-50
GO_REF:0000024 - Manual transfer of experimentally-verified manual GO annotation data to orthologs by curator judgment of sequence similarity.
PMID:28357272 - A central role for TOR signalling in a yeast model for juvenile CLN3 disease.
Bond ME et al. Microb Cell 2015 Nov 11;2(12):466-480
PB_REF:0000003 - Disease Association Curation
PMID:29432178 - General amino acid control in fission yeast is regulated by a nonconserved transcription factor, with functions analogous to Gcn4/Atf4.
Duncan CDS et al. Proc Natl Acad Sci U S A 2018 Feb 20;115(8):E1829-E1838
PMID:20485751 - Deletion of btn1, an orthologue of CLN3, increases glycolysis and perturbs amino acid metabolism in the fission yeast model of Batten disease.
Pears MR et al. Mol Biosyst 2010 Jun;6(6):1093-102
PB_REF:0000001 - Protein modification annotation by manual transfer of experimentally-verified annotation data to orthologs based on curator judgment of sequence features.
PMID:31626996 - Multiplexed proteome profiling of carbon source perturbations in two yeast species with SL-SP3-TMT.
Paulo JA et al. J Proteomics 2020 Jan 06;210:103531
PMID:33313903 - Ribosome profiling reveals ribosome stalling on tryptophan codons and ribosome queuing upon oxidative stress in fission yeast.
Rubio A et al. Nucleic Acids Res 2021 Jan 11;49(1):383-399
PB_REF:0000006 - Disease associations from Monarch via human-pombe orthologs
PMID:23101633 - Quantitative analysis of fission yeast transcriptomes and proteomes in proliferating and quiescent cells.
Marguerat S et al. Cell 2012 Oct 26;151(3):671-83
PMID:16823372 - ORFeome cloning and global analysis of protein localization in the fission yeast Schizosaccharomyces pombe.
Matsuyama A et al. Nat Biotechnol 2006 Jul;24(7):841-7