2. Gene
  3. KNL1 - kinetochore scaffold 1 Gene

KNL1 - kinetochore scaffold 1 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

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

Gene ID: 57082 | Gene type: protein coding

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 Reference 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 Reference 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 Reference 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

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
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS07412 KNL1 Human Pre-designed siRNA Set A Pre-designed Sets / 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