KNL1 Chromosome 15
Kinetochore scaffold 1
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What This Gene Does
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]
Gene Info
Gene Group
"Protein phosphatase 1 regulatory subunits|KNL1 complex"
Locus Type
gene with protein product
Location
15q15.1
Ensembl
ENSG00000137812
Associated Conditions (11)
Microcephaly 4
primary
autosomal recessive
Inborn genetic diseases
Thyroid cancer
nonmedullary
1
KNL1-related disorder
Gastric cancer
Sarcoma
Thymoma
Key Variants
RS142872154
Conflicting classifications of pathogenicity
Microcephaly 4, primary, autosomal recessive
Health Risk
RS146571920
Conflicting classifications of pathogenicity
Microcephaly 4, primary, autosomal recessive
Health Risk
RS150569450
Conflicting classifications of pathogenicity
Microcephaly 4, primary, autosomal recessive
Health Risk
RS151288115
Conflicting classifications of pathogenicity
Health Risk
RS180678267
Conflicting classifications of pathogenicity
Microcephaly 4, primary, autosomal recessive
Health Risk
RS183316447
Conflicting classifications of pathogenicity
Microcephaly 4, primary, autosomal recessive
Health Risk
RS187007187
Conflicting classifications of pathogenicity
Health Risk
RS191249840
Conflicting classifications of pathogenicity
Microcephaly 4, primary, autosomal recessive
Health Risk
RS200052077
Conflicting classifications of pathogenicity
Microcephaly 4, primary, autosomal recessive
Health Risk
RS200222327
Conflicting classifications of pathogenicity
Microcephaly 4, primary, autosomal recessive
Health Risk
RS200656662
Conflicting classifications of pathogenicity
Microcephaly 4, primary, autosomal recessive
Health Risk
RS200845312
Conflicting classifications of pathogenicity
Microcephaly 4, primary, autosomal recessive
Health Risk
All Variants (48)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS142872154 | Health Risk | Conflicting classifications of pathogenicity | Microcephaly 4, primary, autosomal recessive |
| RS146571920 | Health Risk | Conflicting classifications of pathogenicity | Microcephaly 4, primary, autosomal recessive |
| RS150569450 | Health Risk | Conflicting classifications of pathogenicity | Microcephaly 4, primary, autosomal recessive |
| RS151288115 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS180678267 | Health Risk | Conflicting classifications of pathogenicity | Microcephaly 4, primary, autosomal recessive |
| RS183316447 | Health Risk | Conflicting classifications of pathogenicity | Microcephaly 4, primary, autosomal recessive |
| RS187007187 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS191249840 | Health Risk | Conflicting classifications of pathogenicity | Microcephaly 4, primary, autosomal recessive |
| RS200052077 | Health Risk | Conflicting classifications of pathogenicity | Microcephaly 4, primary, autosomal recessive |
| RS200222327 | Health Risk | Conflicting classifications of pathogenicity | Microcephaly 4, primary, autosomal recessive |
| RS200656662 | Health Risk | Conflicting classifications of pathogenicity | Microcephaly 4, primary, autosomal recessive |
| RS200845312 | Health Risk | Conflicting classifications of pathogenicity | Microcephaly 4, primary, autosomal recessive |
| RS201037775 | Health Risk | Conflicting classifications of pathogenicity | Microcephaly 4, primary, autosomal recessive |
| RS201311057 | Health Risk | Conflicting classifications of pathogenicity | Microcephaly 4, primary, autosomal recessive |
| RS201334214 | Health Risk | Conflicting classifications of pathogenicity | Microcephaly 4, primary, autosomal recessive |
| RS201853975 | Health Risk | Conflicting classifications of pathogenicity | Microcephaly 4, primary, autosomal recessive |
| RS202012571 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS35625882 | Health Risk | Conflicting classifications of pathogenicity | Microcephaly 4, primary, autosomal recessive |
| RS369221746 | Health Risk | Conflicting classifications of pathogenicity | Microcephaly 4, primary, autosomal recessive |
| RS370035611 | Health Risk | Conflicting classifications of pathogenicity | Microcephaly 4, primary, autosomal recessive |
| RS371294019 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS373793762 | Health Risk | Conflicting classifications of pathogenicity | Microcephaly 4, primary, autosomal recessive |
| RS374543266 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS375102589 | Health Risk | Conflicting classifications of pathogenicity | Microcephaly 4, primary, autosomal recessive |
| RS377578399 | Health Risk | Conflicting classifications of pathogenicity | Microcephaly 4, primary, autosomal recessive |
| RS533933463 | Health Risk | Conflicting classifications of pathogenicity | Microcephaly 4, primary, autosomal recessive |
| RS555296963 | Health Risk | Conflicting classifications of pathogenicity | Sarcoma, Thymoma, Sarcoma |
| RS565734208 | Health Risk | Conflicting classifications of pathogenicity | Microcephaly 4, primary, autosomal recessive |
| RS7169142 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1064795910 | Health Risk | Likely pathogenic | — |
| RS1064796397 | Health Risk | Likely pathogenic | — |
| RS1397090015 | Health Risk | Likely pathogenic | — |
| RS1555420891 | Health Risk | Likely pathogenic | Microcephaly 4, primary, autosomal recessive |
| RS1555420936 | Health Risk | Likely pathogenic | — |
| RS1555421269 | Health Risk | Likely pathogenic | — |
| RS1595923494 | Health Risk | Likely pathogenic | — |
| RS1595945118 | Health Risk | Likely pathogenic | — |
| RS2141721054 | Health Risk | Likely pathogenic | Microcephaly 4, primary, autosomal recessive |
| RS2141773306 | Health Risk | Likely pathogenic | — |
| RS2543165272 | Health Risk | Likely pathogenic | Microcephaly 4, primary, autosomal recessive |
| RS758157294 | Health Risk | Likely pathogenic | Microcephaly 4, primary, autosomal recessive |
| RS797045430 | Health Risk | Likely pathogenic | Microcephaly 4, primary, autosomal recessive |
| RS979186313 | Health Risk | Likely pathogenic | Microcephaly 4, primary, autosomal recessive |
| RS2141719739 | Health Risk | Pathogenic | Microcephaly 4, primary, autosomal recessive |
| RS2141720777 | Health Risk | Pathogenic | — |
| RS2504282342 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS763915472 | Health Risk | Pathogenic | Microcephaly 4, primary, autosomal recessive |
| RS863225127 | Health Risk | Pathogenic | Microcephaly 4, primary, autosomal recessive |