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Details on Person UniProt:Q8NG31 KNL1

Class:Id	ReferenceGeneProduct:221340
_chainChangeLog	chain:1-2342 added on Fri February 6 2015
_displayName	UniProt:Q8NG31 KNL1
_timestamp	2025-02-21 18:48:09
chain	chain:1-2342
checksum	8E29150CA4F5B5C1
comment	FUNCTION 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).SUBUNIT Component of the KNL1 complex composed of KNL1 and ZWINT (Probable) (PubMed:24530301, PubMed:27881301, PubMed:38459127, PubMed:38459128). Part of the ten-subunit outer kinetochore KMN network that includes the KNL1, MIS12 and NDC80 complexes; a bioriented kinetochore contains approximately 150 copies of the network (PubMed:24530301, PubMed:38459127, PubMed:38459128). Interacts (via C-terminus) with the MIS12 complex subunits NSL1 (via C-terminus), PMF1 and DSN1; the interaction is direct (Probable) (PubMed:17981135, PubMed:20819937, PubMed:21199919, PubMed:24530301, PubMed:38459127, PubMed:38459128). Interacts (via N-terminal region) with BUB1B (via BUB1 N-terminal domain); the interaction is direct and is required for cell cycle arrest upon activation of the mitotic spindle assembly checkpoint (PubMed:17981135, PubMed:21199919, PubMed:22000412, PubMed:22201036, PubMed:22331848). Interacts (via N-terminal region) with BUB1 (via BUB1 N-terminal domain); the interaction is direct (PubMed:17981135, PubMed:21199919, PubMed:22331848). Interacts with the protein phosphatase PP1 subunit PPP1CA; the interaction is direct and mutually exclusive with binding to microtubules (PubMed:30100357). Interacts with the protein phosphatase PP1 subunit PPP1CC; the interaction is direct and mutually exclusive with binding to microtubules (PubMed:30100357).INTERACTION Weakly expressed in interphase nuclei. Expression increases from prophase to late anaphase, but greatly diminishes from the telophase and cytokinesis to early G1 phase of cell cycle (PubMed:19893618). Localizes to the cytoplasm during meiotic prophase I and then the nucleus as meiosis progresses (By similarity).ALTERNATIVE PRODUCTS Highly expressed in testis, where it is localized in germ cells, in particular in spermatocytes and in the pre-acrosome of round spermatids. Detected in the acrosome of ejaculated spermatozoa. Detected in adult thymus, bone marrow, colon, small intestine, appendix and placenta, and in fetal liver and thymus.PTM Phosphorylation by AURKB negatively regulates its interaction with protein phosphatase 1 (PP1) subunit PPP1CA and with microtubules.DISEASE A chromosomal aberration involving KNL1 is associated with acute myeloblastic leukemia (AML). Translocation t(11;15)(q23;q14) with KMT2A. May give rise to a KMT2A-KNL1 fusion protein.DISEASE The disease is caused by variants affecting the gene represented in this entry.
created	[InstanceEdit:217385] Schmidt, EE, 2008-03-27 06:23:53
description	recommendedName: fullName evidence="35"Outer kinetochore KNL1 complex subunit KNL1 alternativeName: ALL1-fused gene from chromosome 15q14 protein shortName: AF15q14 alternativeName: Bub-linking kinetochore protein shortName: Blinkin alternativeName: Cancer susceptibility candidate gene 5 protein alternativeName: Cancer/testis antigen 29 shortName: CT29 alternativeName: Kinetochore scaffold 1 alternativeName: Kinetochore-null protein 1 alternativeName: Protein CASC5 alternativeName: Protein D40/AF15q14
geneName	KNL1 CASC5 KIAA1570
identifier	Q8NG31
isSequenceChanged	FALSE
keyword	3D-structure Alternative splicing Cell cycle Cell division Centromere Chromosomal rearrangement Chromosome Chromosome partition Coiled coil Cytoplasm Disease variant Intellectual disability Kinetochore Mitosis Nucleus Phosphoprotein Primary microcephaly Proteomics identification Reference proteome Repeat
modified	[InstanceEdit:9836292] Weiser, Joel, 2023-05-25 [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9926675] Weiser, Joel, 2024-11-03 [InstanceEdit:9939033] Weiser, Joel, 2025-02-21
name	KNL1
referenceDatabase	[ReferenceDatabase:2] UniProt
referenceGene	[ReferenceDNASequence:8989023] ENSEMBL:ENSG00000137812 KNL1 [Homo sapiens]
secondaryIdentifier	KNL1_HUMAN Q8NHE1 Q8WXA6 Q9HCK2 Q9NR92
sequenceLength	2342
species	[Species:48887] Homo sapiens
(isoformParent)	[ReferenceIsoform:221341] UniProt:Q8NG31-2 KNL1 [Homo sapiens] [ReferenceIsoform:221342] UniProt:Q8NG31-3 KNL1 [Homo sapiens] [ReferenceIsoform:221343] UniProt:Q8NG31-4 KNL1 [Homo sapiens] [ReferenceIsoform:411607] UniProt:Q8NG31-1 KNL1 [Homo sapiens]
(referenceEntity)	[EntityWithAccessionedSequence:375322] KNL1 [cytosol] [Homo sapiens] [EntityWithAccessionedSequence:606296] CASC5 [nucleoplasm] [Homo sapiens]
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No pathways have been reviewed or authored by UniProt:Q8NG31 KNL1 (221340)