KNL1 - kinetochore scaffold 1 Gene

Also Known as D40; CT29; Spc7; CASC5; MCPH4; hKNL-1; AF15Q14; PPP1R55; hSpc105

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 57082

About KNL1

Cytogenetic location: 15q15.1 Genomic coordinates (GRCh38): 15:40,594,249-40,664,342 (from NCBI)

This gene has 12 transcripts (splice variants), 186 orthologues and is associated with 82 phenotypes. Biased expression in testis (RPKM 14.1), bone marrow (RPKM 2.9) and 6 other tissues.

Summary

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]

KNL1 Products (2)

mRNA	Protein	Name
NM_144508.5	NP_653091.3	kinetochore scaffold 1 isoform 2
NM_170589.5	NP_733468.3	kinetochore scaffold 1 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables microtubule binding	IDA IDA: Inferred from direct assay	30100357	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	15231748	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in attachment of spindle microtubules to kinetochore	IDA IDA: Inferred from direct assay	17981135	GOA
involved in mitotic sister chromatid segregation	IMP IMP: Inferred from mutant phenotype	19893618	GOA
acts upstream of or within protein localization to kinetochore	IDA IDA: Inferred from direct assay	22331848	GOA
involved in regulation of mitotic cell cycle spindle assembly checkpoint	IMP IMP: Inferred from mutant phenotype	19893618	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of Knl1/Spc105 complex	IDA IDA: Inferred from direct assay	27881301	GOA
located in acrosomal vesicle	IDA IDA: Inferred from direct assay	15579588	GOA
located in kinetochore	IDA IDA: Inferred from direct assay	15371340	GOA
located in nucleus	IDA IDA: Inferred from direct assay	10980622	GOA
part of outer kinetochore	IDA IDA: Inferred from direct assay	24530301	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names	Protein Names
kinetochore scaffold 1	ALL1-fused gene from chromosome 15q14 protein

KNL1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	KNL1	Q8NG31	PPP1CC	Homo sapiens	P36873	Pull Down	20231380
Intra	KNL1	Q8NG31	PPP1CA	Homo sapiens	P62136	Y2H	15231748
Intra	KNL1	Q8NG31	PPP1CA	Homo sapiens	P62136	Pull Down	19389623

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Microcephaly 4, Primary, Autosomal Recessive	MCPH4 Primary Autosomal Recessive Microcephaly 4 Microcephaly, Primary Autosomal Recessive, 4 Microcephaly, Type 4, Primary, Autosomal Recessive
Primary Autosomal Recessive Microcephaly	Autosomal Recessive Primary Microcephaly Mcph True Microcephaly Microcephalia Vera Microcephaly Vera Microcephaly Primary Hereditary Microcephaly, Primary, Autosomal Recessive Primary Microcephaly
Primary Microcephaly	True Microcephaly Microcephaly, Primary
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly
Leukemia	Leukemias Leukaemia, Unspecified, Without Mention Of Remission Aleukemic Leukaemia Chronic Leukaemia Subacute Leukaemia Leukaemia Disorder Leukaemia Nos
Microcephaly 12, Primary, Autosomal Recessive	MCPH12 Primary Autosomal Recessive Microcephaly 12 Microcephaly, Type 12, Primary, Autosomal Recessive
Mosaic Variegated Aneuploidy Syndrome 2	MVA2 Mosaic Variegated Aneuploidy Syndrome, Type 2
Microcephaly 10, Primary, Autosomal Recessive	MCPH10 Microcephalic Primordial Dwarfism Due To Znf335 Deficiency Primary Autosomal Recessive Microcephaly 10 Microcephalic Primordial Dwarfism, Walsh Type Microcephaly, Type 10, Primary, Autosomal Recessive
Microcephaly 9, Primary, Autosomal Recessive	MCPH9 Primary Autosomal Recessive Microcephaly 9 Microcephaly, Type 9, Primary, Autosomal Recessive
Zika Virus Congenital Syndrome	Zikv Congenital Infection
Microcephaly 18, Primary, Autosomal Dominant	MCPH18 Primary Autosomal Dominant Microcephaly 18
Microcephaly 5, Primary, Autosomal Recessive	MCPH5 Primary Autosomal Recessive Microcephaly 5 Microcephaly Primary Autosomal Recessive 5 With Simplified Gyral Pattern Microcephaly, Primary Autosomal Recessive, 5
Microcephaly 11, Primary, Autosomal Recessive	MCPH11 Primary Autosomal Recessive Microcephaly 11 Microcephaly, Type 11, Primary, Autosomal Recessive
Mosaic Variegated Aneuploidy Syndrome 1	Mva Syndrome MVA1 Mosaic Variegated Aneuploidy Syndrome, Type 1 Mosaic Variegated Aneuploidy Syndrome Congenital Chromosomal Disease
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Imaging Abnormalities	Microcephaly 15, Primary, Autosomal Recessive NEDMISBA Mcph15 Primary Autosomal Recessive Microcephaly 15 Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Abnormalities
Microcephaly 13, Primary, Autosomal Recessive	MCPH13 Primary Autosomal Recessive Microcephaly 13 Microcephaly, Type 13, Primary, Autosomal Recessive
Filippi Syndrome	Scott Craniodigital Syndrome With Mental Retardation Type 1 Syndactyly-Microcephaly-Intellectual Disability Syndrome FLPIS Scott Bryant Graham Syndrome Craniodigital-Intellectual Disability Syndrome Scott Craniodigital Syndrome Scott-Bryant-Graham Syndrome Syndactyly, Type I, With Microcephaly And Mental Retardation Syndactyly Type I With Microcephaly And Intellectual Disability Unusual Facial Appearance, Microcephaly, Growth And Intellectual Disability And Syndactyly Craniodigital Syndrome With Intellectual Disability Craniodigital Syndrome-Intellectual Disability Syndrome Craniodigital Syndrome-Intellectual Disability, Scott Type Intellectual Disability-Craniodigital Syndrome
Mosaic Variegated Aneuploidy Syndrome	Warburton-Anyane-Yeboa Syndrome Mva Syndrome Mosaic Variegated Aneuplody Microcephaly Syndrome Warburton Anyane Yeboa Syndrome
Mirror Movements 1	Congenital Mirror Movement Disorder Bimanual Synergia Congenital Mirror Movements Familial Congenital Controlateral Synkinesia Familial Congenital Mirror Movements Hereditary Congenital Controlateral Synkinesia Hereditary Congenital Mirror Movements Isolated Congenital Controlateral Synkinesia Isolated Congenital Mirror Movements Mirror Movements MRMV1 Mirror Movements 1 And/Or Agenesis Of The Corpus Callosum Mirror Movements, Congenital Bimanual Synkinesis Cmm Mirror Movements, Type 1
Seckel Syndrome	Microcephalic Primordial Dwarfism Bird-Headed Dwarfism Harper'S Syndrome Virchow-Seckel Dwarfism Nanocephalic Dwarfism Sckl Seckel-Type Dwarfism
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07412	KNL1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-116470	Mps1/TTK-IN-1	Inhibitor	/	Unkown
HY-RS22214	Knl1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28736	Knl1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	KNL1	VGNC	VGNC:104481
Macaca mulatta	KNL1	VGNC	VGNC:84366
Rattus norvegicus	KNL1	RGD	RGD:1307498
Mus musculus	KNL1	MGD	MGI:1923714
Canis familiaris	KNL1	VGNC	VGNC:42496
Bos taurus	KNL1	VGNC	VGNC:106801
Others	KNL1	NCBI