AlphaFold predicted structure
KNL1 · Q8NG31
Mean pLDDT
39.8/ 100
Very low
2,342 residues
Confidence breakdown
- Very high(≥ 90)1%
- Confident(70–90)15%
- Low(50–70)2%
- Very low(< 50)82%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
KNL1
Chr 15q15.1kinetochore scaffold 1
- Aliases:
- D40, AF15Q14, CT29, KIAA1570, hKNL-1
- MANE:
- ENST00000399668.7
Annotations refreshed 9 hours ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
DDG2P
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalIntellectual disability
BIALLELIC, autosomal or pseudoautosomalSevere microcephaly
BIALLELIC, autosomal or pseudoautosomal
Disease associations (Open Targets)
autosomal recessive primary microcephaly
0.74hereditary disease
0.41Primary microcephaly
0.37endometrial endometrioid adenocarcinoma
0.37cutaneous melanoma
0.37colorectal adenocarcinoma
0.37skin basal cell carcinoma
0.37colon adenocarcinoma
0.37ovarian endometrioid adenocarcinoma with squamous differentiation
0.37carcinoma of liver and intrahepatic biliary tract
0.37
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Outer kinetochore KNL1 complex subunit KNL1
Acts as a component of the outer kinetochore KNL1 complex that serves as a docking point for spindle assembly checkpoint components and mediates microtubule-kinetochore interactions (PubMed:15502821, PubMed:17981135, PubMed:18045986, PubMed:19893618, PubMed:21199919, PubMed:22000412, PubMed:22331848, PubMed:27881301, PubMed:30100357). Kinetochores, consisting of a centromere-associated inner segment and a microtubule-contacting outer segment, play a crucial role in chromosome segregation by mediating the physical connection between centromeric DNA and spindle microtubules (PubMed:18045986, PubMed:19893618, PubMed:27881301). The outer kinetochore is made up of the ten-subunit KMN network, comprising the MIS12, NDC80 and KNL1 complexes, and auxiliary microtubule-associated components; together they connect the outer kinetochore with the inner kinetochore, bind microtubules, and mediate interactions with mitotic checkpoint proteins that delay anaphase until chromosomes are bioriented on the spindle (PubMed:17981135, PubMed:19893618, PubMed:22000412, PubMed:38459127, PubMed:38459128). Required for kinetochore binding by a distinct subset of kMAPs (kinetochore-bound microtubule-associated proteins) and motors (PubMed:19893618). Acts in coordination with CENPK to recruit the NDC80 complex to the outer kinetochore (PubMed:18045986, PubMed:27881301). Can bind either to microtubules or to the protein phosphatase 1 (PP1) catalytic subunits PPP1CA and PPP1CC (via overlapping binding sites), it has higher affinity for PP1 (PubMed:30100357). Recruits MAD2L1 to the kinetochore and also directly links BUB1 and BUB1B to the kinetochore (PubMed:17981135, PubMed:19893618, PubMed:22000412, PubMed:22331848, PubMed:25308863). In addition to orienting mitotic chromosomes, it is also essential for alignment of homologous chromosomes during meiotic metaphase I (By similarity). In meiosis I, required to activate the spindle assembly checkpoint at unattached kinetochores to correct erroneous kinetochore-microtubule attachments (By similarity)
Diseases associated with KNL1
Curated MONDO disease pages that list KNL1 among their top associated genes.