protein coding gene - msk1 (SPCC18.08) - mitochondrial lysine-tRNA ligase Msk1

Gene summary

Standard name: msk1
Systematic ID: SPCC18.08
Product: mitochondrial lysine-tRNA ligase Msk1
Organism: Schizosaccharomyces pombe (fission yeast)
UniProt ID: O74858
ORFeome ID: 25/25F05
Characterisation status: biological role inferred
Feature type: mRNA gene
Genomic location: chromosome III: 1970867..1973665 forward strand

Annotation

Disease association

MONDO:0013489 - autosomal recessive nonsyndromic hearing loss 89

References:

PB_REF:0000006

MONDO:0013338 - Charcot-Marie-Tooth disease recessive intermediate B

References:

PB_REF:0000006

MONDO:0008960 - Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome

References:

PB_REF:0000003

MONDO:0030967 - deafness, congenital, and adult-onset progressive leukoencephalopathy

References:

PB_REF:0000006

MONDO:0030893 - leukoencephalopathy, progressive, infantile-onset, with or without deafness

References:

PB_REF:0000006

MONDO:0013498 - schizophrenia 15

References:

PB_REF:0000003

GO biological process

GO:0006430 - lysyl-tRNA aminoacylation

References:

GO_REF:0000033

GO:0032543 - mitochondrial translation

References:

GO_REF:0000051

GO cellular component

GO:0005759 - mitochondrial matrix

References:

GO_REF:0000111

GO:0005739 - mitochondrion

References:

PMID:16823372

GO molecular function

GO:0005524 - ATP binding

References:

GO_REF:0000002

GO:0004824 - lysine-tRNA ligase activity

References:

GO_REF:0000033

GO:0000049 - tRNA binding

References:

GO_REF:0000033

Protein features

PBO:0111871 - OB fold

Protein sequence feature

SO:0001808 - mitochondrial_targeting_signal

References:

PMID:36408920

Qualitative gene expression

PomGeneEx:0000012 - RNA level decreased

References:

PMID:33313903

Quantitative gene expression

PBO:0006310 - protein level

References:

PBO:0011963 - RNA level

References:

PMID:23101633

Single locus phenotype

FYPO:0002111 - inviable tapered vegetative cell

References:

PMID:23697806

Genotypes:

msk1delta

FYPO:0002061 - inviable vegetative cell population

References:

Genotypes:

msk1delta

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

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

Protein features

ID	Name	InterPro name	DB name
PF01336	tRNA_anti-codon	NA-bd_OB_tRNA	PFAM
PF00152	tRNA-synt_2	Aa-tRNA-synt_II	PFAM
cd04322	LysRS_N	Lys-tRNA-ligase_II_N	CDD
PS50862	AA_TRNA_LIGASE_II	aa-tRNA-synth_II	PROSITE_PROFILES
PR00982	TRNASYNTHLYS	Lys-tRNA-synth_II_C	PRINTS
SSF55681	Class II aaRS and biotin synthetases	aa-tRNA-synth_II/BPL/LPL	SUPERFAMILY
SSF50249	Nucleic acid-binding proteins	NA-bd_OB-fold	SUPERFAMILY
G3DSA:3.30.930.10	Bira Bifunctional Protein; Domain 2	aa-tRNA-synth_II/BPL/LPL	GENE3D
G3DSA:2.40.50.140		NA-bd_OB-fold	GENE3D
PTHR42918	LYSYL-TRNA SYNTHETASE		PANTHER
TIGR00499	lysS_bact	Lys-tRNA-ligase_II	NCBIFAM

Orthologs

KARS1 (HGNC:6215) Homo sapiens
msk1 (SJAG_04409) Schizosaccharomyces japonicus
MSK1 (YNL073W) Saccharomyces cerevisiae

References / Literature

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: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: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: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
GO_REF:0000033 - Annotation inferences using phylogenetic trees
GO_REF:0000002 - Comments
PMID:21511999 - Comparative functional genomics of the fission yeasts.: Rhind N et al. Science 2011 May 20;332(6032):930-6
GO_REF:0000111 - Gene Ontology annotations Inferred by Curator (IC) using at least one Inferred by Sequence Similarity (ISS) annotation to support the inference
GO_REF:0000051 - S. pombe keyword mapping
PB_REF:0000006 - Disease associations from Monarch via human-pombe orthologs
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:0000003 - Disease Association Curation
PMID:36408920 - UniProt: the Universal Protein Knowledgebase in 2023.: UniProt Consortium Nucleic Acids Res 2023 Jan 06;51(D1):D523-D531
PMID:24763107 - Absolute proteome and phosphoproteome dynamics during the cell cycle of Schizosaccharomyces pombe (Fission Yeast).: Carpy A et al. Mol Cell Proteomics 2014 Aug;13(8):1925-36