protein coding gene - ckn1 (SPBC577.09) - ERCC8 DNA repair homolog

Gene summary

Standard name: ckn1
Systematic ID: SPBC577.09
Product: ERCC8 DNA repair homolog
Organism: Schizosaccharomyces pombe (fission yeast)
UniProt ID: Q9USR0
ORFeome ID: 24/24C11
Characterisation status: biological role published
Feature type: mRNA gene
Genomic location: chromosome II: 767782..769555 forward strand

Annotation

Disease association

MONDO:0016006 - Cockayne syndrome

References:

PB_REF:0000003

MONDO:0019569 - Cockayne syndrome type 1

References:

PB_REF:0000006

MONDO:0005071 - nervous system disorder

References:

PMID:20456449

MONDO:0013829 - UV-sensitive syndrome 2

References:

PB_REF:0000006

GO biological process

GO:0006283 - transcription-coupled nucleotide-excision repair

References:

PMID:18794354

GO cellular component

GO:0005829 - cytosol

References:

PMID:16823372

GO:0070912 - Ddb1-Ckn1 complex

References:

PMID:18794354

Protein features

PBO:0111751 - WD repeat protein

Protein sequence feature

SO:0001804 - DDB_box

References:

PMID:18794354

Quantitative gene expression

PBO:0011963 - RNA level

References:

PMID:23101633

Single locus phenotype

FYPO:0000311 - inviable after spore germination with normal, unseptated germ tube morphology

References:

PMID:23697806

Genotypes:

ckn1delta

FYPO:0002151 - inviable spore

References:

PMID:23697806

Genotypes:

ckn1delta

FYPO:0002061 - inviable vegetative cell population

References:

Genotypes:

ckn1delta

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

ID	Name	InterPro name	DB name
PF00400	WD40	WD40_rpt	PFAM
cd00200	WD40		CDD
PS00678	WD_REPEATS_1	WD40_repeat_CS	PROSITE_PATTERNS
PS50294	WD_REPEATS_REGION		PROSITE_PROFILES
PS50082	WD_REPEATS_2	WD40_rpt	PROSITE_PROFILES
SM00320	WD40_4	WD40_rpt	SMART
PR00320	GPROTEINBRPT	WD40_PAC1	PRINTS
SSF50978	WD40 repeat-like	WD40_repeat_dom_sf	SUPERFAMILY
G3DSA:2.130.10.10		WD40/YVTN_repeat-like_dom_sf	GENE3D
PTHR46202	DNA EXCISION REPAIR PROTEIN ERCC-8	Rad28/ERCC8/Ckn1/ATCSA-1	PANTHER

Orthologs

ERCC8 (HGNC:3439) Homo sapiens
ckn1 (SJAG_04540) Schizosaccharomyces japonicus
RAD28 (YDR030C) Saccharomyces cerevisiae

References / Literature

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
PMID:18794354 - Schizosaccharomyces pombe Ddb1 recruits substrate-specific adaptor proteins through a novel protein motif, the DDB-box.: Fukumoto Y et al. Mol Cell Biol 2008 Nov;28(22):6746-56
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: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:20456449 - ERCC6 founder mutation identified in Finnish patients with COFS syndrome.: Jaakkola E et al. Clin Genet 2010 Dec;78(6):541-7
PB_REF:0000003 - Disease Association Curation
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