Tbio KNL1 Kinetochore scaffold 1

Protein Summary

Description

Performs two crucial functions during mitosis: it is essential for spindle-assembly checkpoint signaling and for correct chromosome alignment. Required for attachment of the kinetochores to the spindle microtubules. Directly links BUB1 and BUB1B to kinetochores. Part of the MIS12 complex, which may be fundamental for kinetochore formation and proper chromosome segregation during mitosis. Acts in coordination with CENPK to recruit the NDC80 complex to the outer kinetochore. The protein encoded by this gene is a component of the multiprotein assembly that is required for creation of kinetochore-microtubule attachments and chromosome segregation. The encoded protein functions as a scaffold for proteins that influence the spindle assembly checkpoint during the eukaryotic cell cycle and it interacts with at least five different kinetochore proteins and two checkpoint kinases. In adults, this gene is predominantly expressed in normal testes, various cancer cell lines and primary tumors from other tissues and is ubiquitously expressed in fetal tissues. This gene was originally identified as a fusion partner with the mixed-lineage leukemia (MLL) gene in t(11;15)(q23;q14). Mutations in this gene cause autosomal recessive primary microcephaly-4 (MCPH4). Alternative splicing results in multiple transcript variants encoding different isoforms. Additional splice variants have been described but their biological validity has not been confirmed. [provided by RefSeq, Jan 2013]

Uniprot Accession IDs

• Q8NG31
• Q8NHE1
• Q8WXA6
• Q9HCK2
• Q9NR92

Gene Name

• KNL1

Ensembl ID

• ENST00000346991
• ENSP00000335463
• ENSG00000137812
• ENST00000399668
• ENSP00000382576

Symbol

• CASC5
• KIAA1570
• D40
• CT29
• Spc7
• CASC5
• MCPH4
• hKNL-1
• AF15Q14
• PPP1R55
• hSpc105

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
biological process	0
biological term	0
cell line	0
cell type or tissue	0
cellular component	0

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IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 83.05   (req: < 5)

Gene RIFs: 24   (req: <= 3)

Antibodies: 101   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 83.05   (req: >= 5)

Gene RIFs: 24   (req: > 3)

Antibodies: 101   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 6

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0

GWAS Traits (5)

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GWAS Trait	EFO ID	Study Count	SNP Count	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
lymphocyte count	EFO_0004587	2	2	2		77.3
mathematical ability	EFO_0004875	1	1	1		57.8
self reported educational attainment	EFO_0004784	1	1	1		48.6
monocyte count	EFO_0005091	1	1	1		29
prostate carcinoma	EFO_0001663	1	1	0	1.1	20.3

• Explore on Target Illumination GWAS Analytics (TIGA)

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GWAS Trait	EFO ID	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
lymphocyte count	EFO_0004587	2		77.3
mathematical ability	EFO_0004875	1		57.8
self reported educational attainment	EFO_0004784	1		48.6
monocyte count	EFO_0005091	1		29
prostate carcinoma	EFO_0001663	0	1.1	20.3

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Orthologs (6)

1 – 5 of 6

Species	Name	Source ID	Gene ID	OMA	EggNOG	Inparanoid
Chimp	kinetochore scaffold 1	VGNC:6447	453338
Mouse	kinetochore scaffold 1	MGI:1923714	76464
Rat	protein CASC5-like	RGD:6494213	100911204
Dog	kinetochore scaffold 1	VGNC:42496	478260
Horse	kinetochore scaffold 1	VGNC:19499	100071354

Species	Name	OMA	EggNOG	Inparanoid
Chimp	kinetochore scaffold 1
Mouse	kinetochore scaffold 1
Rat	protein CASC5-like
Dog	kinetochore scaffold 1
Horse	kinetochore scaffold 1

Protein Structure (4 Structures, 1 AlphaFold Model)

Representation

  axes   backbone   ball+stick   cartoon   rocket   rope   spacefill

Color Scheme

  target   atomindex   bfactor   chainname   electrostatic   element   hydrophobicity   resname   sstruc

Click on a row in the table to change the structure displayed.
More information can be found at RCSB PDB

AF-Q8NG31-F1-model_v1

AlphaFold Structures Developed by DeepMind and EMBL-EBI

1 – 4 of 4

PDB Structure Id	Ligand	Method	Resolution (Å)	Residues	Fraction of Total Protein	Pub Year	Title

PDB Structure Id	Fraction of Total Protein	Resolution	Pub Year

Pathways (19)

Reactome (19)

Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal (R-HSA-141444)

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Data Source	Name	Explore in Pharos	Explore in Source
Reactome	Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal	93 targets	R-HSA-141444
Reactome	Amplification of signal from the kinetochores	93 targets	R-HSA-141424
Reactome	Cell Cycle	597 targets	R-HSA-1640170
Reactome	Cell Cycle Checkpoints	272 targets	R-HSA-69620
Reactome	Cell Cycle, Mitotic	495 targets	R-HSA-69278

Name	Explore in Pharos	Explore in Source
Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal	93 targets	R-HSA-141444
Amplification of signal from the kinetochores	93 targets	R-HSA-141424
Cell Cycle	597 targets	R-HSA-1640170
Cell Cycle Checkpoints	272 targets	R-HSA-69620
Cell Cycle, Mitotic	495 targets	R-HSA-69278

Gene Ontology Terms (12)

Components (6)

Processes (6)

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1 – 6 of 6

GO Term	Evidence	Assigned by
acrosomal vesicle	Inferred from Direct Assay (IDA)	UniProtKB
condensed chromosome kinetochore	Inferred from Direct Assay (IDA)	WormBase
cytosol	Inferred from Direct Assay (IDA)	HPA
nuclear body	Inferred from Direct Assay (IDA)	HPA
nucleoplasm	Inferred from Direct Assay (IDA)	HPA
nucleus	Inferred from Direct Assay (IDA)	UniProtKB

Protein-Protein Interactions (268)

Explore Interacting Targets

1 – 10 of 268

• See Interactions on String-DB

DSN1

Tbio

Novelty: 0.05336903

p_int: 0.999998866

p_ni: 0.000001134

Score: 0.997

Data Source: BioPlex,Reactome,STRINGDB

PPP1CC

Tchem

Family: Enzyme

Novelty: 0.00465946

p_int: 0.999995074

p_ni: 0.000004926

Score: 0.945

Data Source: BioPlex,STRINGDB

SPC24

Tbio

Novelty: 0.03166479

p_int: 0.999993154

p_ni: 0.000006846

Score: 0.996

Data Source: BioPlex,Reactome,STRINGDB

SPC25

Tbio

Novelty: 0.26354244

p_int: 0.999986096

p_ni: 0.000013904

Score: 0.983

Data Source: BioPlex,Reactome,STRINGDB

NSL1

Tbio

Novelty: 0.01396984

p_int: 0.999983009

p_ni: 0.000016991

Score: 0.998

Data Source: BioPlex,Reactome,STRINGDB

ZWINT

Tbio

Novelty: 0.02153276

p_int: 0.999981973

p_ni: 0.000018027

Score: 0.999

Data Source: BioPlex,STRINGDB

PMF1

Tbio

Novelty: 0.05319446

p_int: 0.999980815

p_ni: 0.000019185

Score: 0.538

Data Source: BioPlex,Reactome,STRINGDB

PPP1CA

Tchem

Family: Enzyme

Novelty: 0.00354658

p_int: 0.99997073

p_ni: 0.00002927

Score: 0.182

Data Source: BioPlex,STRINGDB

PRELID2

Tdark

Novelty: 0.38276284

p_int: 0.991866133

p_ni: 0.008133867

Data Source: BioPlex

BUB1

Tchem

Family: Kinase

Novelty: 0.00327514

p_int: 0.988573701

p_ni: 0.011426298

Score: 0.999

Data Source: BioPlex,STRINGDB

Publication Statistics

PubMed Score  83.05

PubMed score by year

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PubTator Score  50.19

PubTator score by year

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Amino Acid Sequence

Residue Counts

Protein Sequence

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3D-structure
Alternative splicing
Cell cycle
Cell division
Centromere
Chromosomal rearrangement
Chromosome
Chromosome partition
Coiled coil
Complete proteome

GWAS Trait Find Similar Targets

lymphocyte count
mathematical ability
monocyte count
prostate carcinoma
self reported educational attainment

MGI Phenotype Find Similar Targets

mortality/aging