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KNL1 (cancer susceptibility candidate 5)

Written2000-03Jean-Loup Huret, Christiane Charrin
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France (JLH); Service d'Hematologie, Hopital Edouard Herriot, Lyon, France (CC).
Updated2006-09Masato Takimoto
Institute for Genetic Medicine, Hokkaido University, Sapporo, Hokkaido, Japan
Updated2012-06Masato Takimoto
Institute for Genetic Medicine, Hokkaido University, Sapporo, Hokkaido, Japan
Updated2016-10Masato Takimoto
Institute for Genetic Medicine, Hokkaido University, Sapporo, Hokkaido, Japan

Abstract Review on KNL1, with data on DNA, on the protein encoded, and where the gene is implicated.

(Note : for Links provided by Atlas : click)

Identity

Alias_namesMCPH4
CASC5
microcephaly, primary autosomal recessive 4
cancer susceptibility candidate 5
Alias_symbol (synonym)D40
AF15Q14
CT29
KIAA1570
hKNL-1
hSpc105
PPP1R55
Spc7
HGNC (Hugo) KNL1
LocusID (NCBI) 57082
Atlas_Id 318
Location 15q15.1  [Link to chromosome band 15q15]
Location_base_pair Starts at 40886447 and ends at 40954881 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
KNL1 (15q15.1) / ADAMTS9-AS2 (3p14.1)KNL1 (15q15.1) / KMT2A (11q23.3)KMT2A (11q23.3) / KNL1 (15q15.1)

DNA/RNA

Note Whole genomic size is about 70 kbp, but consists of 27 exons.
Transcription KNL1 mRNA expression is dominant in normal human testis and slight expression are observed in other organs, such as placenta. Analysis on cancer cell lines, such as HeLa, gave single band with 8.5 kb. There is another alternative splicing site at the 5' side of this gene that generates a short exon with 78 bp in cDNA. There are potential other alternative splicing at cancer cell lines.
Analysis on testis mRNA shows two bands with size of approximately 6 and 8,5 kb which are probably derived from the two isoforms.

Protein

 
  Figure 1. Domain structure of KNL1 protein. Brown arrows indicate protein interactions, and blue arrows and line with T-shape indicate phosphorylation and dephosphorylation, respectively. MT :microtubules. KT : kinetochore.
Description Encodes 1833 amino acids and 2342 amino acids.
Expression KNL1 protein expressions with molecular weight of approximately 250 kDa and 300 kDa are observed in human testicular germ cells and cancer cell lines.
Localisation In germ cell of testis, significant high expressions of KNL1 protein are observed in nucleus of spermatocytes and slightly in spermatogonia. It is noteworthy that round spermatids express significantly high KNL1 protein in their pre-acrosome. As KNL1 protein has no hydrophobic signal peptide in its amino terminus, it probably localizes outer surface of pre-acrosome membrane of spermatids inside of the cells..
In mitosis KNL1 protein is localized in kinetochore in a human cancer cell line.
Function KNL1 is a large of kinetochore protein, constituting KMN (KNL1/ MIS12 complex/ NDC80 complex) network. KMN network is the central hub of outer kinetochore, not only connecting mitotic chromosomes and spindles but also coordinating microtubule-binding, chromosome congression and spindle assembly checkpoint (SAC) signaling. There are two microtubule binding activity in KMN network, one in NDC80 and the other in KNL1. KNL1 protein binds directly microtubule through its far N-terminal region, consisting of 68 amino acids, in vitro, and indirectly through the interactions with MIS12 and NDC80 complexes at its C-terminus. KNL1 depletion affects metaphase chromosome congression. In C. elegans,
The depletion preclude metaphase chromosomal congression, while in yeast, Drosophila and human cells, the depletions show partial alignment phenotypes, in which some chromosomes congress to the equator but many chromosomes remain stranded near the spindle poles. In the N-terminus of KNL1 protein, AURKB (Aurora kinase B) phosphorylates SILK and RVSF motifs, and then disrupts the interaction between KNL1 and protein phosphatase I (PP1), which also binds the motifs. KNL1 augments Aurora B kinase activity that phosphorylates outer kinetochore protein, such as NDC80, resulting in reduction its microtubule-binding activity. Protein phosphatase 2A ( PP2A) is recruited by BUB1B (BubR1), one of SAC protein. Both PP1 and PPA2 are suggested to counteract Aurora B kinase activity. Especially, PP1 was shown to stabilize microtubule attachments to kinetochores probably through KNL1, while Aurora B kinase destabilizes microtubule-binding by NDC80 phosphorylation as described. The destabilized binding of KNL1 to microtubules is presumably important for correcting and eliminating erroneous kinetochore-microtubule attachment during SAC.
It is suggested that the bindings with microtubule and with PP1 also play roles in SAC silencing. Although their binding sites are in close proximity, one of their bindings do not affect the other, and they contribute independently to the silencing of SAC. Two KI motifs, KI1 and KI2, localized in the N-terminus, bind SAC protein, BUB1 and BUB1B, respectively, through tetratricopeptide repeats (TPRs) of the proteins, resulting into folding the motifs into short alpha-helices. Although BUB1 fragment with mutation in KI-binding domain was not able to bind to KNL1 in vitro, BUB1 and BUB1B mutants with KI-binding sites were able to attach to kinetochore. Mutations in the BUB3-binding domain (BUB3-BD) in BUB1 and BUB1B prevent kinetochore localization of the SAC protein. BUB1 fragment consisting only of N-terminus with TPRs does not localize to kinetochore and longer fragments that accommodate BUB3-BD did. Those results suggest that BUB3-BD of BUB1 and BUB1B, rather than TPRs, is critical for their recruitment to kinetochore and that the interaction between TPRs of Bub proteins and KI-motif of KNL1 might play a subsidiary role in the localization of BUB1 and BUB1B to kinetochore. In response to SAC signal, the first step of this response is phosphorylation of MELT motifs of KNL1, located in the N-terminal and central region, by Mps1 kinase, and then the phosphorylated MELT motifs bind BUB3/BUB1complex, mediating SAC signaling. KNL1- BUB3-BUB1(KBB) complex binds MXD1 (MAD1)/ MAD2L1 (MAD2) complex, and then, together with MAD1 phosphorylation by Msp1, the binding leads to CDC20/MAD2 formation, an essential part of Mitotic Checkpoint Complex (MCC) that inhibits Anaphase Promoting Complex/Cyclosome (APC/C).
Recently, it suggested that there are two pathways for recruiting MAD1-MAD2 that results in SAC activation. One is the pathway through KBB, as described above, the other is KNTC1 (ROD)-RW10- ZWILCH, (RZZ) complex, which interacts with KNL1 through ZWINT (Zwint-1 protein). The former is required for SAC activation when kinetochores are misaligned but is not essential when kinetochores are unattached from microtubules. The latter binds SPDL1 (Spindly protein) and MAD1-MAD2, and causes the anaphase-onset delay in response to unattached kinetochore independently of the former.
It was suggested that the binding of KNL1 with microtubules and with PP1 contribute to silencing of SAC, in which motor protein dynein, moving along on microtubules, is suggested to work to strip MAD1-MAD2. The C-terminal region of KNL1 interacts with MIS12 and Zwint-1 protein, through RWD motif and coiled-coiled region, respectively. The binding with the former plays role in connecting inner kinetochore with KNL1 and the latter mediates the interaction of KNL1 with RZZ complex which works in SAC regulation as described above.

Implicated in

Note KNL1 expression was observed in many human cancer cell lines and primary cancers derived from different organs and tissues. In one study, KNL1 mRNA expression was detected in all the cancer cell lines examined and positive in 31 out of 103 primary human cancers (30%). As KNL1 is overexpressed in normal testis, KNL1 is a member of Cancer/Testis gene family. Among the primary cancers examined lung cancer showed the highest positive rate, more than 40%, and its clincopathological characteristics are significantly correlated with KNL1 mRNA expression as described below.
Entity Leukemia
Note A small subset of leukemia has a rare chromosomal translocation, (t(11;15)(q23;q14), which had been described in both acute myeloblastic leukemia (AML) and acute lymphoblastic Leukemia (ALL). The studies on three cases on this translocation revealed that KMT2A, the mixed leukemia gene (MLL) located at 11q23 are translocated with KNL1 gene located at 15q15, originally described as AF15q14 gene located at 15q14. In the first case of leukemia the translocation breakpoints in both genes reside in exons, while in the second case the breakpoints in both genes are in introns, and in the third case the breakpoint in MLL is intronic and Af15q14 exonic.
  
Entity Lung cancer
Note In one study on primary lung cancer, KNL1 mRNA expression was observed in more than 40% of the cases, which is the highest among all the different types of cancers examined. The study also revealed that clinicopathological findings correlates with KNL1 expression. KNL1 mRNA expression is more frequent in the tumors with low differentiation than the ones with moderate and high differentiation. Further, the tumors derived from smoker express higher incidence of KNL1 mRNA than the ones from non-smoker.
  
Entity Spermatogenesis
Note KNL1 mRNA was highly expressed in normal testis. As KNL1 protein expressions were observed in spermatogonia and spermatocytes in seminiferous tube of human testes, this protein may also play a role in cell division as a kinetochore protein in meiotic cells. It is noteworthy that KNL1 protein is also significantly expressed in pre-acrosome of spermatids, especially from its early stage, suggesting that KNL1 might be playing important role in the formation of acrosome, an essential organelle for fertilization. KNL1 expressions in testes of the patients with infertility were significantly lower than normal ones.
  
Entity Microcephaly
Disease Autosomal recessive primary microcephaly (MCPH) is a very rare neuro-developmental disorder with brain size reduction, no structural malformation of the brain at birth, mild-to moderate mental retardation and absence of other neurological or somatic disease. There are 12 genetic loci responsible for MCPH, and it was suggested that one of the responsible genetic locus, MCPH4, resides on chromosome 15. Subsequently, the study on the patients with MCPH4 of consanguineous families in Morocco revealed that a homozygous missense mutation was observed in exon 18 of KNL1 gene. This point mutation caused skipping this exon in splicing reaction in the mRNA maturation of KNL1, suggesting that the affected nucleotide is a part of Exonic splicing enhancers. The mutation resulted in frame-shift and truncation of KNL1 protein. As RWD repeats at near its carboxy terminus were deleted by this mutation, the truncated protein is no longer able to bind to Mis12, leading to the defected recruitment of KNL1 protein to kinetochore. One of the patients in the Morroco families has cryptorchidism in addition to microcephaly. The results of studies on MCH4 is a direct demonstration that KNL1 is essential to cell division in vivo.
  

Bibliography

Exonic splicing enhancers: mechanism of action, diversity and role in human genetic diseases
Blencowe BJ
Trends Biochem Sci 2000 Mar;25(3):106-10
PMID 10694877
 
Kinetochore signalling: the KIss that MELTs Knl1
Bollen M
Curr Biol 2014 Jan 20;24(2):R68-70
PMID 24456977
 
KNL1: bringing order to the kinetochore
Caldas GV, DeLuca JG
Chromosoma 2014 Jun;123(3):169-81
PMID 24310619
 
The conserved KMN network constitutes the core microtubule-binding site of the kinetochore.
Cheeseman IM, Chappie JS, Wilson-Kubalek EM, Desai A.
Cell. 2006 Dec 1;127(5):983-97.
PMID 17129783
 
A t(11;15) fuses MLL to two different genes, AF15q14 and a novel gene MPFYVE on chromosome 15
Chinwalla V, Chien A, Odero M, Neilly MB, Zeleznik-Le NJ, Rowley JD
Oncogene 2003 Mar 6;22(9):1400-10
PMID 12618766
 
Microtubule binding by KNL-1 contributes to spindle checkpoint silencing at the kinetochore.
Espeut J, Cheerambathur DK, Krenning L, Oegema K, Desai A.
J Cell Biol. 2012 Feb 20;196(4):469-82. Epub 2012 Feb 13.
PMID 22331849
 
The (phospho) needle in the (MELT) Haystack
Faesen AC, Musacchio A
Mol Cell 2015 Mar 5;57(5):765-6
PMID 25747656
 
Kinetochore KMN network gene CASC5 mutated in primary microcephaly
Genin A, Desir J, Lambert N, Biervliet M, Van Der Aa N, Pierquin G, Killian A, Tosi M, Urbina M, Lefort A, Libert F, Pirson I, Abramowicz M
Hum Mol Genet 2012 Dec 15;21(24):5306-17
PMID 22983954
 
AF15q14, a novel partner gene fused to the MLL gene in an acute myeloid leukaemia with a t(11;15)(q23;q14).
Hayette S, Tigaud I, Vanier A, Martel S, Corbo L, Charrin C, Beillard E, Deleage G, Magaud JP, Rimokh R.
Oncogene. 2000 Sep 7;19(38):4446-50.
PMID 10980622
 
Primary autosomal recessive microcephaly: homozygosity mapping of MCPH4 to chromosome 15
Jamieson CR, Govaerts C, Abramowicz MJ
Am J Hum Genet 1999 Nov;65(5):1465-9
PMID 10521316
 
The fission yeast kinetochore component Spc7 associates with the EB1 family member Mal3 and is required for kinetochore-spindle association.
Kerres A, Vietmeier-Decker C, Ortiz J, Karig I, Beuter C, Hegemann J, Lechner J, Fleig U.
Mol Biol Cell. 2004 Dec;15(12):5255-67. Epub 2004 Sep 15.
PMID 15371542
 
Protein interaction domain mapping of human kinetochore protein Blinkin reveals a consensus motif for binding of spindle assembly checkpoint proteins BUB1 and BUB1B.
Kiyomitsu T, Murakami H, Yanagida M.
Mol Cell Biol. 2011 Mar;31(5):998-1011. Epub 2011 Jan 3.
PMID 21199919
 
Finding the middle ground: how kinetochores power chromosome congression
Kops GJ, Saurin AT, Meraldi P
Cell Mol Life Sci 2010 Jul;67(13):2145-61
PMID 20232224
 
Structural analysis reveals features of the spindle checkpoint kinase BUB1-kinetochore subunit Knl1 interaction.
Krenn V, Wehenkel A, Li X, Santaguida S, Musacchio A.
J Cell Biol. 2012 Feb 20;196(4):451-67. Epub 2012 Feb 13.
PMID 22331848
 
Characterization of the MLL partner gene AF15q14 involved in t(11;15)(q23;q14)
Kuefer MU, Chinwalla V, Zeleznik-Le NJ, Behm FG, Naeve CW, Rakestraw KM, Mukatira ST, Raimondi SC, Morris SW
Oncogene 2003 Mar 6;22(9):1418-24
PMID 12618768
 
Regulated targeting of protein phosphatase 1 to the outer kinetochore by KNL1 opposes Aurora B kinase.
Liu D, Vleugel M, Backer CB, Hori T, Fukagawa T, Cheeseman IM, Lampson MA.
J Cell Biol. 2010 Mar 22;188(6):809-20. Epub 2010 Mar 15.
PMID 20231380
 
A conserved Mis12 centromere complex is linked to heterochromatic HP1 and outer kinetochore protein Zwint-1.
Obuse C, Iwasaki O, Kiyomitsu T, Goshima G, Toyoda Y, Yanagida M.
Nat Cell Biol. 2004 Nov;6(11):1135-41. Epub 2004 Oct 24.
PMID 15502821
 
Molecular analysis of core kinetochore composition and assembly in Drosophila melanogaster.
Przewloka MR, Zhang W, Costa P, Archambault V, D'Avino PP, Lilley KS, Laue ED, McAinsh AD, Glover DM.
PLoS One. 2007 May 30;2(5):e478.
PMID 17534428
 
The protein encoded by cancer/testis gene D40/AF15q14 is localized in spermatocytes, acrosomes of spermatids and ejaculated spermatozoa.
Sasao T, Itoh N, Takano H, Watanabe S, Wei G, Tsukamoto T, Kuzumaki N, Takimoto M.
Reproduction. 2004 Dec;128(6):709-16.
PMID 15579588
 
Testis cancer gene D40 expression and its relationship with clinicopathological features in infertile men.
Sasao T, Takimoto M, Itoh N, Maeda T, Tanaka T, Masumori N, Tsukamoto T.
Int J Urol. 2011 Feb;18(2):175-9. doi: 10.1111/j.1442-2042.2010.02692.x. Epub 2011 Jan 12.
PMID 21272090
 
KNL1-Bubs and RZZ Provide Two Separable Pathways for Checkpoint Activation at Human Kinetochores
Silió V, McAinsh AD, Millar JB
Dev Cell 2015 Dec 7;35(5):600-13
PMID 26651294
 
Cancer/testis antigens, gametogenesis and cancer.
Simpson AJ, Caballero OL, Jungbluth A, Chen YT, Old LJ.
Nat Rev Cancer. 2005 Aug;5(8):615-25. (REVIEW)
PMID 16034368
 
Frequent expression of new cancer/testis gene D40/AF15q14 in lung cancers of smokers.
Takimoto M, Wei G, Dosaka-Akita H, Mao P, Kondo S, Sakuragi N, Chiba I, Miura T, Itoh N, Sasao T, Koya RC, Tsukamoto T, Fujimoto S, Katoh H, Kuzumaki N.
Br J Cancer. 2002 Jun 5;86(11):1757-62.
PMID 12087463
 
Kinetochore localisation and phosphorylation of the mitotic checkpoint components Bub1 and BubR1 are differentially regulated by spindle events in human cells
Taylor SS, Hussein D, Wang Y, Elderkin S, Morrow CJ
J Cell Sci 2001 Dec;114(Pt 24):4385-95
PMID 11792804
 
Chromosomal assignment of a novel human gene D40.
Wei G, Takimoto M, Yoshida I, Mao PZ, Koya RC, Miura T, Kuzumaki N.
Nucleic Acids Symp Ser. 1999;(42):71-2.
PMID 10780384
 
Aurora B phosphorylates spatially distinct targets to differentially regulate the kinetochore-microtubule interface.
Welburn JP, Vleugel M, Liu D, Yates JR 3rd, Lampson MA, Fukagawa T, Cheeseman IM.
Mol Cell. 2010 May 14;38(3):383-92.
PMID 20471944
 

Citation

This paper should be referenced as such :
Takimoto M
KNL1 (cancer susceptibility candidate 5);
Atlas Genet Cytogenet Oncol Haematol. in press
On line version : http://AtlasGeneticsOncology.org/Genes/AF15q14ID318.html
History of this paper:
Huret, JL ; Charrin, C. AF15q14 (ALL1 fused gene from 15q14). Atlas Genet Cytogenet Oncol Haematol. 2000;4(2):50-50.
http://documents.irevues.inist.fr/bitstream/handle/2042/37605/03-2000-AF15q14ID318.pdf
Takimoto, M. CASC5 (cancer sensitibity candidate 5). Atlas Genet Cytogenet Oncol Haematol. 2007;11(1):8-9.
http://documents.irevues.inist.fr/bitstream/handle/2042/38375/09-2006-AF15q14ID318.pdf
Takimoto, M. CASC5 (cancer susceptibility candidate 5). Atlas Genet Cytogenet Oncol Haematol. 2013;17(1):1-2.
http://documents.irevues.inist.fr/bitstream/handle/2042/48462/06-2012-AF15q14ID318.pdf


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 2 ]
  11q23 rearrangements (KMT2A) in leukaemia
t(11;15)(q23;q14) KMT2A/CASC5


External links

Nomenclature
HGNC (Hugo)KNL1   24054
Cards
AtlasAF15q14ID318
Entrez_Gene (NCBI)KNL1  57082  kinetochore scaffold 1
AliasesAF15Q14; CASC5; CT29; D40; 
MCPH4; PPP1R55; Spc7; hKNL-1; hSpc105
GeneCards (Weizmann)KNL1
Ensembl hg19 (Hinxton)ENSG00000137812 [Gene_View]  chr15:40886447-40954881 [Contig_View]  KNL1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000137812 [Gene_View]  chr15:40886447-40954881 [Contig_View]  KNL1 [Vega]
ICGC DataPortalENSG00000137812
TCGA cBioPortalKNL1
AceView (NCBI)KNL1
Genatlas (Paris)KNL1
WikiGenes57082
SOURCE (Princeton)KNL1
Genetics Home Reference (NIH)KNL1
Genomic and cartography
GoldenPath hg19 (UCSC)KNL1  -     chr15:40886447-40954881 +  15q14   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)KNL1  -     15q14   [Description]    (hg38-Dec_2013)
EnsemblKNL1 - 15q14 [CytoView hg19]  KNL1 - 15q14 [CytoView hg38]
Mapping of homologs : NCBIKNL1 [Mapview hg19]  KNL1 [Mapview hg38]
OMIM604321   609173   
Gene and transcription
Genbank (Entrez)AB022190 AB046790 AF173994 AF248041 AF461041
RefSeq transcript (Entrez)NM_144508 NM_170589
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)KNL1
Cluster EST : UnigeneHs.181855 [ NCBI ]
CGAP (NCI)Hs.181855
Alternative Splicing GalleryENSG00000137812
Gene ExpressionKNL1 [ NCBI-GEO ]   KNL1 [ EBI - ARRAY_EXPRESS ]   KNL1 [ SEEK ]   KNL1 [ MEM ]
Gene Expression Viewer (FireBrowse)KNL1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)57082
GTEX Portal (Tissue expression)KNL1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8NG31   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8NG31  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8NG31
Splice isoforms : SwissVarQ8NG31
PhosPhoSitePlusQ8NG31
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)KNL1
DMDM Disease mutations57082
Blocks (Seattle)KNL1
PDB (SRS)3SI5    4A1G    4NF9    4NFA   
PDB (PDBSum)3SI5    4A1G    4NF9    4NFA   
PDB (IMB)3SI5    4A1G    4NF9    4NFA   
PDB (RSDB)3SI5    4A1G    4NF9    4NFA   
Structural Biology KnowledgeBase3SI5    4A1G    4NF9    4NFA   
SCOP (Structural Classification of Proteins)3SI5    4A1G    4NF9    4NFA   
CATH (Classification of proteins structures)3SI5    4A1G    4NF9    4NFA   
SuperfamilyQ8NG31
Human Protein AtlasENSG00000137812
Peptide AtlasQ8NG31
HPRD10634
IPIIPI00220694   IPI00170766   IPI00163659   IPI00747876   IPI01018189   IPI00794405   IPI00981919   IPI00980608   
Protein Interaction databases
DIP (DOE-UCLA)Q8NG31
IntAct (EBI)Q8NG31
FunCoupENSG00000137812
BioGRIDKNL1
STRING (EMBL)KNL1
ZODIACKNL1
Ontologies - Pathways
QuickGOQ8NG31
Ontology : AmiGOcondensed chromosome kinetochore  acrosomal vesicle  acrosome assembly  protein binding  nucleus  nucleoplasm  nucleoplasm  cytoplasm  cytosol  sister chromatid cohesion  mitotic nuclear division  attachment of spindle microtubules to kinetochore  negative regulation of phosphatase activity  CENP-A containing nucleosome assembly  protein localization to kinetochore  cell division  extracellular exosome  spindle assembly checkpoint  
Ontology : EGO-EBIcondensed chromosome kinetochore  acrosomal vesicle  acrosome assembly  protein binding  nucleus  nucleoplasm  nucleoplasm  cytoplasm  cytosol  sister chromatid cohesion  mitotic nuclear division  attachment of spindle microtubules to kinetochore  negative regulation of phosphatase activity  CENP-A containing nucleosome assembly  protein localization to kinetochore  cell division  extracellular exosome  spindle assembly checkpoint  
NDEx NetworkKNL1
Atlas of Cancer Signalling NetworkKNL1
Wikipedia pathwaysKNL1
Orthology - Evolution
OrthoDB57082
GeneTree (enSembl)ENSG00000137812
Phylogenetic Trees/Animal Genes : TreeFamKNL1
HOVERGENQ8NG31
HOGENOMQ8NG31
Homologs : HomoloGeneKNL1
Homology/Alignments : Family Browser (UCSC)KNL1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerKNL1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)KNL1
dbVarKNL1
ClinVarKNL1
1000_GenomesKNL1 
Exome Variant ServerKNL1
ExAC (Exome Aggregation Consortium)KNL1 (select the gene name)
Genetic variants : HAPMAP57082
Genomic Variants (DGV)KNL1 [DGVbeta]
DECIPHER (Syndromes)15:40886447-40954881  ENSG00000137812
CONAN: Copy Number AnalysisKNL1 
Mutations
ICGC Data PortalKNL1 
TCGA Data PortalKNL1 
Broad Tumor PortalKNL1
OASIS PortalKNL1 [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDKNL1
BioMutasearch KNL1
DgiDB (Drug Gene Interaction Database)KNL1
DoCM (Curated mutations)KNL1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)KNL1 (select a term)
intoGenKNL1
NCG5 (London)KNL1
Cancer3DKNL1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM604321    609173   
Orphanet732   
MedgenKNL1
Genetic Testing Registry KNL1
NextProtQ8NG31 [Medical]
TSGene57082
GENETestsKNL1
Huge Navigator KNL1 [HugePedia]
snp3D : Map Gene to Disease57082
BioCentury BCIQKNL1
ClinGenKNL1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD57082
Chemical/Pharm GKB GenePA142672201
Clinical trialKNL1
Miscellaneous
canSAR (ICR)KNL1 (select the gene name)
Probes
Litterature
PubMed51 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineKNL1
EVEXKNL1
GoPubMedKNL1
iHOPKNL1
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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