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protein coding gene - SPBC19C7.11 - plasma membrane ClC chloride channel

Gene summary

Systematic ID
SPBC19C7.11
Product
plasma membrane ClC chloride channel
Organism
Schizosaccharomyces pombe (fission yeast)
UniProt ID
O60159
ORFeome ID
46/46H06
Characterisation status
biological role inferred
Feature type
mRNA gene
Genomic location
chromosome II: 2842971..2845623 forward strand

Annotation

Disease association

MONDO:0008156 - autosomal dominant osteopetrosis 2

References:

MONDO:0012676 - autosomal recessive osteopetrosis 4

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MONDO:0015612 - Dent disease

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MONDO:0010225 - Dent disease type 1

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MONDO:0010358 - hypophosphatemic rickets, X-linked recessive

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MONDO:0032805 - hypopigmentation, organomegaly, and delayed myelination and development

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MONDO:0010250 - intellectual disability, X-linked 49

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MONDO:0010687 - nephrolithiasis, X-linked recessive, with renal failure

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MONDO:0859187 - neurodevelopmental disorder with hypotonia and brain abnormalities

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MONDO:0859188 - neurodevelopmental disorder with seizures and brain abnormalities

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MONDO:0030947 - neuronal ceroid lipofuscinosis 15

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MONDO:0010644 - proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis

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GO biological process

GO:1902476 - chloride transmembrane transport

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GO:0006878 - intracellular copper ion homeostasis

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GO:0006879 - intracellular iron ion homeostasis

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GO cellular component

GO:0005789 - endoplasmic reticulum membrane

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GO:0010008 - endosome membrane

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GO:0000324 - fungal-type vacuole

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GO:0005794 - Golgi apparatus

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GO:0005886 - plasma membrane

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GO molecular function

GO:0005247 - voltage-gated chloride channel activity

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Modification

MOD:00046 - O-phospho-L-serine

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MOD:00047 - O-phospho-L-threonine

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MOD:00048 - O4'-phospho-L-tyrosine

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MOD:00696 - phosphorylated residue

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MOD:01148 - ubiquitinylated lysine

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Protein sequence feature

SO:0001812 - transmembrane_helix

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Qualitative gene expression

PomGeneEx:0000012 - RNA level decreased

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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:0009091 - decreased cell population growth on lysine and proline nitrogen source

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Genotypes:

FYPO:0001309 - increased viability in stationary phase

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Genotypes:

FYPO:0009083 - resistance to lithium chloride and methyl methanesulfonate

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Genotypes:

FYPO:0001097 - sensitive to amitrole

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Genotypes:

FYPO:0000094 - sensitive to benomyl

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Genotypes:

FYPO:0001501 - sensitive to brefeldin A

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Genotypes:

FYPO:0000096 - sensitive to cadmium

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Genotypes:

FYPO:0000097 - sensitive to caffeine during vegetative growth

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Genotypes:

FYPO:0000104 - sensitive to cycloheximide

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Genotypes:

FYPO:0004512 - sensitive to EGTA

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Genotypes:

FYPO:0007931 - sensitive to egtazic acid

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Genotypes:

FYPO:0009071 - sensitive to itraconazole

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Genotypes:

FYPO:0009088 - sensitive to magnesium chloride and sodium dodecyl sulfate

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Genotypes:

FYPO:0009090 - sensitive to sodium chloride and sodium dodecyl sulfate

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Genotypes:

FYPO:0002328 - sensitive to terbinafine

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Genotypes:

FYPO:0001457 - sensitive to tunicamycin

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Genotypes:

FYPO:0003656 - sensitive to vanadate

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Genotypes:

FYPO:0001491 - viable vegetative cell

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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:0011067 - conserved in bacteria

PBO:0011065 - conserved in eukaryotes

PBO:0011064 - conserved in fungi

PBO:0011069 - conserved in metazoa

PBO:0011070 - conserved in vertebrates

Warnings

PBO:0000070 - gene structure updated

References:

Protein features

IDNameInterPro nameDB name
PF00571CBSCBS_domPfam
PF00654Voltage_CLCClCPfam
cd03684ClC_3_likeCDD
cd04591CBS_pair_voltage-gated_CLC_euk_bacCDD
PR00762CLCHANNELClCPRINTS
G3DSA:1.10.3080.10:FF:000024CATH-FunFam
G3DSA:1.10.3080.10CATH-Gene3D
G3DSA:3.10.580.10CBS_dom_sfCATH-Gene3D
SSF54631CBS_dom_sfSUPERFAMILY
SSF81340Cl-channel_coreSUPERFAMILY
PTHR45711PANTHER
Transmembrane alpha helixDeepTMHMM
mobidb-lite-Disorderdisorder_predictionMobiDB-Disorder

Orthologs

References / Literature

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: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: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
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:21511999 - Comparative functional genomics of the fission yeasts.
Rhind N et al. Science 2011 May 20;332(6032):930-6
PMID:19547744 - Evolution of phosphoregulation: comparison of phosphorylation patterns across yeast species.
Beltrao P et al. PLoS Biol 2009 Jun 16;7(6):e1000134
PB_REF:0000003 - Disease Association Curation
GO_REF:0000024 - Manual transfer of experimentally-verified manual GO annotation data to orthologs by curator judgment of sequence similarity.
PB_REF:0000006 - Disease associations from Monarch via human-pombe orthologs
PMID:25720772 - Quantitative phosphoproteomics reveals pathways for coordination of cell growth and division by the conserved fission yeast kinase pom1.
Kettenbach AN et al. Mol Cell Proteomics 2015 May;14(5):1275-87
PMID:33823663 - A TOR (target of rapamycin) and nutritional phosphoproteome of fission yeast reveals novel targets in networks conserved in humans.
Halova L et al. Open Biol 2021 Apr;11(4):200405
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:27298342 - Identification of S-phase DNA damage-response targets in fission yeast reveals conservation of damage-response networks.
Willis NA et al. Proc Natl Acad Sci U S A 2016 Jun 28;113(26):E3676-85
PMID:20118936 - Schizosaccharomyces pombe genome-wide nucleosome mapping reveals positioning mechanisms distinct from those of Saccharomyces cerevisiae.
Lantermann AB et al. Nat Struct Mol Biol 2010 Feb;17(2):251-7
PMID:29996109 - Quantitative Phosphoproteomics Reveals the Signaling Dynamics of Cell-Cycle Kinases in the Fission Yeast Schizosaccharomyces pombe.
Swaffer MP et al. Cell Rep 2018 Jul 10;24(2):503-514
PMID:30726745 - Fission Yeast NDR/LATS Kinase Orb6 Regulates Exocytosis via Phosphorylation of the Exocyst Complex.
Tay YD et al. Cell Rep 2019 Feb 05;26(6):1654-1667.e7
PMID:26582768 - Abo1, a conserved bromodomain AAA-ATPase, maintains global nucleosome occupancy and organisation.
Gal C et al. EMBO Rep 2016 Jan;17(1):79-93
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
GO_REF:0000033 - Annotation inferences using phylogenetic trees
PMID:33109728 - High-Throughput Identification of Nuclear Envelope Protein Interactions in Schizosaccharomyces pombe Using an Arrayed Membrane Yeast-Two Hybrid Library.
Varberg JM et al. G3 (Bethesda) 2020 Dec 03;10(12):4649-4663
PMID:23028377 - Factors that promote H3 chromatin integrity during transcription prevent promiscuous deposition of CENP-A(Cnp1) in fission yeast.
Choi ES et al. PLoS Genet 2012 Sep;8(9):e1002985
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:34250083 - Barcode sequencing and a high-throughput assay for chronological lifespan uncover ageing-associated genes in fission yeast.
Romila CA et al. Microb Cell 2021 Jul 05;8(7):146-160
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:27168121 - Discovery of genes involved in mitosis, cell division, cell wall integrity and chromosome segregation through construction of Schizosaccharomyces pombe deletion strains.
Chen JS et al. Yeast 2016 Sep;33(9):507-17
PMID:37970674 - SUMOylation regulates Lem2 function in centromere clustering and silencing.
Strachan J et al. J Cell Sci 2023 Dec 01;136(23)
PMID:39476757 - Characterization of Ksg1 protein kinase-dependent phosphoproteome in the fission yeast S. pombe.
Cipak L et al. Biochem Biophys Res Commun 2024 Oct 25;736:150895