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protein coding gene - SPBC887.02 - plasma membrane ClC chloride channel

Gene summary

Systematic ID
SPBC887.02
Product
plasma membrane ClC chloride channel
Organism
Schizosaccharomyces pombe (fission yeast)
UniProt ID
O94287
ORFeome ID
37/37D02
Characterisation status
biological role inferred
Feature type
mRNA gene
Genomic location
chromosome II: 3540997..3546032 forward strand

Annotation

Disease association

MONDO:0008156 - autosomal dominant osteopetrosis 2

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MONDO:0012676 - autosomal recessive osteopetrosis 4

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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:0030947 - neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities

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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: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 cellular component

GO:0005789 - endoplasmic reticulum membrane

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GO:0010008 - endosome membrane

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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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Protein sequence feature

SO:0001812 - transmembrane_helix

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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:0009068 - resistance to ciclopirox olamine

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Genotypes:

FYPO:0001453 - resistance to ethanol

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Genotypes:

FYPO:0009035 - resistance to formamide

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Genotypes:

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

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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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FYPO:0000104 - sensitive to cycloheximide

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FYPO:0007931 - sensitive to egtazic acid

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Genotypes:

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

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Genotypes:

FYPO:0002328 - sensitive to terbinafine

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Genotypes:

FYPO:0000797 - sensitive to tert-butyl hydroperoxide

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Genotypes:

FYPO:0003656 - sensitive to vanadate

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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
PF00654Voltage_CLCClCPfam
cd03684ClC_3_likeCDD
PR00762CLCHANNELClCPRINTS
G3DSA:1.10.3080.10CATH-Gene3D
SSF54631CBS_dom_sfSUPERFAMILY
SSF81340Cl-channel_coreSUPERFAMILY
PTHR45711PANTHER
Transmembrane alpha helixDeepTMHMM

Orthologs

References / Literature

GO_REF:0000033 - Annotation inferences using phylogenetic trees
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: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
GO_REF:0000050 - Manual transfer of GO annotation data to genes by curator judgment of sequence model
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: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:21511999 - Comparative functional genomics of the fission yeasts.
Rhind N et al. Science 2011 May 20;332(6032):930-6
PB_REF:0000006 - Disease associations from Monarch via human-pombe orthologs
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