Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	57082
Gene name	Kinetochore scaffold 1
Gene symbol	KNL1
Synonyms (NCBI Gene)	AF15Q14CASC5CT29D40MCPH4PPP1R55Spc7hKNL-1hSpc105
Chromosome	15
Chromosome location	15q15.1
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 spind

Show/Hide all (17)

SNP ID	Visualize variation	Clinical significance	Consequence
rs145740834	A>G,T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs187007187	T>C	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs191249840	C>A,G,T	Benign, conflicting-interpretations-of-pathogenicity	Missense variant, stop gained, coding sequence variant, synonymous variant
rs200656662	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs533933463	G>A,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs758157294	G>C,T	Likely-pathogenic	Missense variant, coding sequence variant
rs763915472	G>A	Pathogenic	Missense variant, coding sequence variant
rs797045430	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs863225127	->T	Pathogenic	Frameshift variant, coding sequence variant
rs979186313	A>G	Likely-pathogenic	Coding sequence variant, synonymous variant
rs1064795910	CA>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1064796397	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555420891	TT>C	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555420936	->T	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555421269	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1595923494	ACAG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1595945118	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant

Show/Hide all (20)

miRTarBase ID	miRNA	Experiments	Reference
MIRT633639	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT633638	hsa-miR-4786-3p	HITS-CLIP	23824327
MIRT633637	hsa-miR-7977	HITS-CLIP	23824327
MIRT633639	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT633638	hsa-miR-4786-3p	HITS-CLIP	23824327
MIRT633637	hsa-miR-7977	HITS-CLIP	23824327
MIRT633636	hsa-miR-7843-3p	HITS-CLIP	23824327
MIRT633635	hsa-miR-127-5p	HITS-CLIP	23824327
MIRT457422	hsa-miR-191-5p	PAR-CLIP	23592263
MIRT457421	hsa-miR-4524b-3p	PAR-CLIP	23592263
MIRT457420	hsa-miR-1179	PAR-CLIP	23592263
MIRT457419	hsa-miR-802	PAR-CLIP	23592263
MIRT072070	hsa-miR-633	PAR-CLIP	23592263
MIRT072071	hsa-miR-3674	PAR-CLIP	23592263
MIRT457422	hsa-miR-191-5p	PAR-CLIP	23592263
MIRT457421	hsa-miR-4524b-3p	PAR-CLIP	23592263
MIRT457420	hsa-miR-1179	PAR-CLIP	23592263
MIRT457419	hsa-miR-802	PAR-CLIP	23592263
MIRT072070	hsa-miR-633	PAR-CLIP	23592263
MIRT072071	hsa-miR-3674	PAR-CLIP	23592263

Show/Hide all (31)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000070	Process	Mitotic sister chromatid segregation	IMP	19893618
GO:0000775	Component	Chromosome, centromeric region	IEA
GO:0000776	Component	Kinetochore	IDA	15371340, 19893618
GO:0000776	Component	Kinetochore	IEA
GO:0000776	Component	Kinetochore	NAS	21633384, 23418356
GO:0000940	Component	Outer kinetochore	IDA	24530301
GO:0001669	Component	Acrosomal vesicle	IDA	15579588
GO:0001675	Process	Acrosome assembly	NAS	15579588
GO:0005515	Function	Protein binding	IPI	15231748, 15502821, 17981135, 19141287, 19389623, 20220147, 20231380, 20360068, 20819937, 22000412, 22331848, 22660415, 24530301, 26496610, 27881301, 28514442, 30100357, 33961781
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	10980622
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005694	Component	Chromosome	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0007059	Process	Chromosome segregation	IEA
GO:0008017	Function	Microtubule binding	IDA	30100357
GO:0008608	Process	Attachment of spindle microtubules to kinetochore	IBA
GO:0008608	Process	Attachment of spindle microtubules to kinetochore	IDA	17981135
GO:0008608	Process	Attachment of spindle microtubules to kinetochore	IEA
GO:0016604	Component	Nuclear body	IDA
GO:0031619	Process	Homologous chromosome orientation in meiotic metaphase I	ISS
GO:0034501	Process	Protein localization to kinetochore	IBA
GO:0034501	Process	Protein localization to kinetochore	IDA	22331848
GO:0034501	Process	Protein localization to kinetochore	IEA
GO:0051301	Process	Cell division	IEA
GO:0090266	Process	Regulation of mitotic cell cycle spindle assembly checkpoint	IMP	19893618
GO:0180019	Component	Knl1/Spc105 complex	IDA	27881301
GO:1905326	Process	Positive regulation of meiosis I spindle assembly checkpoint	ISS

MIM	HGNC	e!Ensembl
609173	24054	ENSG00000137812

Q8NG31

Protein name

Outer kinetochore KNL1 complex subunit KNL1 (ALL1-fused gene from chromosome 15q14 protein) (AF15q14) (Bub-linking kinetochore protein) (Blinkin) (Cancer susceptibility candidate gene 5 protein) (Cancer/testis antigen 29) (CT29) (Kinetochore scaffold 1) (

Protein 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:1989

PDB

3SI5 , 4A1G , 4NF9 , 4NFA , 6CZO , 8PPR , 8Q5H

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF19221	MELT	164 → 187	MELT motif	Motif
PF19221	MELT	293 → 317	MELT motif	Motif
PF19221	MELT	452 → 470	MELT motif	Motif
PF19221	MELT	498 → 520	MELT motif	Motif
PF19221	MELT	586 → 608	MELT motif	Motif
PF19221	MELT	774 → 798	MELT motif	Motif
PF19221	MELT	883 → 908	MELT motif	Motif
PF19221	MELT	926 → 950	MELT motif	Motif
PF19221	MELT	964 → 988	MELT motif	Motif
PF19221	MELT	1097 → 1122	MELT motif	Motif
PF19221	MELT	1138 → 1162	MELT motif	Motif
PF19221	MELT	1176 → 1200	MELT motif	Motif
PF18210	Knl1_RWD_C	2239 → 2336	Knl1 RWD C-terminal domain	Domain

Tissue specificity

TISSUE SPECIFICITY: 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, col

Sequence

MDGVSSEANEENDNIERPVRRRHSSILKPPRSPLQDLRGGNERVQESNALRNKKNSRRVS
FADTIKVFQTESHMKIVRKSEMEGCSAMVPSQLQLLPPGFKRFSCLSLPETETGENLLLI
QNKKLEDNYCEITGMNTLLSAPIHTQMQQKEFSIIEHTRERKHANDQTVIFSDENQMDLT
SSHTVMITKGLLDNPISEKSTKIDTTSFLANLKLHTEDSRMKKEVNFSVDQNTSSENKID
FNDFIKRLKTGKCSAFPDVPDKENFEIPIYSKEPNSASSTHQMHVSLKEDENNSNITRLF
REKDDGMNFTQCHTANIQTLIPTSSETNSRESKGNDITIYGNDFMDLTFNHTLQILPATG
NFSEIENQTQNAMDVTTGYGTKASGNKTVFKSKQNTAFQDLSINSADKIHITRSHIMGAE
THIVSQTCNQDARILAMTPESIYSNPSIQGCKTVFYSSCNDAMEMTKCLSNMREEKNLLK
HDSNYAKMYCNPDAMSSLTEKTIYSGEENMDITKSHTVAIDNQIFKQDQSNVQIAAAPTP
EKEMMLQNLMTTSEDGKMNVNCNSVPHVSKERIQQSLSNPLSISLTDRKTELLSGENMDL
TESHTSNLGSQVPLAAYNLAPESTSESHSQSKSSSDECEEITKSRNEPFQRSDIIAKNSL
TDTWNKDKDWVLKILPYLDKDSPQSADCNQEIATSHNIVYCGGVLDKQITNRNTVSWEQS
LFSTTKPLFSSGQFSMKNHDTAISSHTVKSVLGQNSKLAEPLRKSLSNPTPDYCHDKMII
CSEEEQNMDLTKSHTVVIGFGPSELQELGKTNLEHTTGQLTTMNRQIAVKVEKCGKSPIE
KSGVLKSNCIMDVLEDESVQKPKFPKEKQNVKIWGRKSVGGPKIDKTIVFSEDDKNDMDI
TKSYTIEINHRPLLEKRDCHLVPLAGTSETILYTCRQDDMEITRSHTTALECKTVSPDEI
TTRPMDKTVVFVDNHVELEMTESHTVFIDYQEKERTDRPNFELSQRKSLGTPTVICTPTE
ESVFFPGNGESDRLVANDSQLTPLEEWSNNRGPVEVADNMELSKSATCKNIKDVQSPGFL
NEPLSSKSQRRKSLKLKNDKTIVFSENHKNDMDITQSCMVEIDNESALEDKEDFHLAGAS
KTILYSCGQDDMEITRSHTTALECKTLLPNEIAIRPMDKTVLFTDNYSDLEVTDSHTVFI
DCQATEKILEENPKFGIGKGKNLGVSFPKDNSCVQEIAEKQALAVGNKIVLHTEQKQQLF
AATNRTTNEIIKFHSAAMDEKVIGKVVDQACTLEKAQVESCQLNNRDRRNVDFTSSHATA
VCGSSDNYSCLPNVISCTDNLEGSAMLLCDKDEEKANYCPVQNDLAYANDFASEYYLESE
GQPLSAPCPLLEKEEVIQTSTKGQLDCVITLHKDQDLIKDPRNLLANQTLVYSQDLGEMT
KLNSKRVSFKLPKDQMKVYVDDIYVIPQPHFSTDQPPLPKKGQSSINKEEVILSKAGNKS
LNIIENSSAPICENKPKILNSEEWFAAACKKELKENIQTTNYNTALDFHSNSDVTKQVIQ
THVNAGEAPDPVITSNVPCFHSIKPNLNNLNGKTGEFLAFQTVHLPPLPEQLLELGNKAH
NDMHIVQATEIHNINIISSNAKDSRDEENKKSHNGAETTSLPPKTVFKDKVRRCSLGIFL
PRLPNKRNCSVTGIDDLEQIPADTTDINHLETQPVSSKDSGIGSVAGKLNLSPSQYINEE
NLPVYPDEINSSDSINIETEEKALIETYQKEISPYENKMGKTCNSQKRTWVQEEEDIHKE
KKIRKNEIKFSDTTQDREIFDHHTEEDIDKSANSVLIKNLSRTPSSCSSSLDSIKADGTS
LDFSTYRSSQMESQFLRDTICEESLREKLQDGRITIREFFILLQVHILIQKPRQSNLPGN
FTVNTPPTPEDLMLSQYVYRPKIQIYREDCEARRQKIEELKLSASNQDKLLVDINKNLWE
KMRHCSDKELKAFGIYLNKIKSCFTKMTKVFTHQGKVALYGKLVQSAQNEREKLQIKIDE
MDKILKKIDNCLTEMETETKNLEDEEKNNPVEEWDSEMRAAEKELEQLKTEEEELQRNLL
ELEVQKEQTLAQIDFMQKQRNRTEELLDQLSLSEWDVVEWSDDQAVFTFVYDTIQLTITF
EESVVGFPFLDKRYRKIVDVNFQSLLDEDQAPPSSLLVHKLIFQYVEEKESWKKTCTTQH
QLPKMLEEFSLVVHHCRLLGEEIEYLKRWGPNYNLMNIDINNNELRLLFSSSAAFAKFEI
TLFLSAYYPSVPLPSTIQNHVGNTSQDDIATILSKVPLENNYLKNVVKQIYQDLFQDCHF
YH

Sequence length

2342

Interactions

View interactions

	KEGG		Reactome
	Cell cycle		Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal Separation of Sister Chromatids Resolution of Sister Chromatid Cohesion RHO GTPases Activate Formins Deposition of new CENPA-containing nucleosomes at the centromere Mitotic Prometaphase EML4 and NUDC in mitotic spindle formation

234

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Microcephaly 4, primary, autosomal recessive	Likely pathogenic; Pathogenic	rs2141721054, rs2141719739, rs797045430, rs863225127, rs2543165272, rs1555420891, rs763915472, rs979186313, rs758157294	RCV002245293 RCV002251729 RCV000193385 RCV000201695 RCV003146844 RCV000501352 RCV000032912 RCV000585836 RCV000585821

Show/Hide Unknown Diseases (16)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign; Likely benign	rs115900739, rs780520811	RCV005901026 RCV005905244
Adrenocortical carcinoma, hereditary	Benign; Likely benign	rs16970911	RCV005887987
Cervical cancer	Benign; Likely benign	rs115900739	RCV005901028
Colorectal cancer	Benign; Likely benign	rs16970911, rs115900739	RCV005887989 RCV005901029
Familial cancer of breast	Benign	rs34904135	RCV005867170
Gastric cancer	Conflicting classifications of pathogenicity	rs370035611	RCV005898564
KNL1-related disorder	Uncertain significance; Conflicting classifications of pathogenicity; Likely benign; Benign	rs761320880, rs201853975, rs533933463, rs776234628, rs1033262852, rs755472529, rs758001293, rs1025267096, rs758477581, rs1892839117, rs746287674, rs1259624326, rs147655679, rs745736623, rs372010989 View all (15 more)	RCV003956355 RCV003905113 RCV003937535 RCV003930138 RCV003414492 RCV003399499 RCV003399519 RCV003420712 RCV003896515 RCV003896706 RCV003907122 RCV003914686 RCV003979334 RCV003979355 RCV003914616 RCV003934413 RCV003962044 RCV003969605 RCV003910189 RCV003969882 RCV003920323 RCV003962369 RCV003960152 RCV003960153 RCV003922959 RCV003968346 RCV003923222 RCV003895581 RCV003945829 RCV003953491
Lung cancer	Benign; Likely benign	rs74970544	RCV005892259
Malignant tumor of esophagus	Benign; Likely benign	rs115900739	RCV005901027
Primary Microcephaly, Recessive	Benign; Conflicting classifications of pathogenicity; Likely benign	rs7177192, rs2412541, rs11858113, rs11855334, rs33931006, rs8041534, rs12911738, rs11070285, rs17747633, rs16970911, rs76098847, rs76371152, rs555296963, rs8040502, rs116093409, rs12148454, rs201818761, rs201182330 View all (3 more)	RCV000371367 RCV000280144 RCV000300029 RCV000369685 RCV000306942 RCV000364844 RCV000327262 RCV000317334 RCV000317990 RCV000288975 RCV000305903 RCV000377331 RCV000272235 RCV000320581 RCV000342564 RCV000356237 RCV000327090 RCV000361242
Sarcoma	Conflicting classifications of pathogenicity; Benign; Likely benign	rs555296963, rs115900739	RCV005892255 RCV005901030
Thymoma	Benign; Likely benign; Conflicting classifications of pathogenicity	rs16970911, rs555296963, rs74970544	RCV005887991 RCV005892256 RCV005892257
Thyroid cancer, nonmedullary, 1	Benign; Likely benign; Conflicting classifications of pathogenicity	rs74970544, rs200656662	RCV005892258 RCV005899653
Uterine carcinosarcoma	Benign; Likely benign	rs16970911, rs35146555	RCV005887990 RCV005904805
Uterine corpus endometrial carcinoma	Benign; Likely benign	rs115900739	RCV005901031
Uveal melanoma	Benign; Likely benign	rs16970911	RCV005887988

Show/Hide Text Mining Associations (17)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma of Lung	Associate	32795273
Aneuploidy	Associate	37075754
Breast Neoplasms	Associate	31758680
Carcinoma Neuroendocrine	Associate	34245124
Carcinoma Non Small Cell Lung	Associate	38583438
Colorectal Neoplasms	Associate	31315522, 34373442
Coronavirus Infections	Associate	37017853
Diabetes Mellitus Type 2	Associate	33290408
Glioblastoma	Associate	33423377
Leukemia Biphenotypic Acute	Associate	21199919
Microcephaly	Associate	30304678
Neoplasms	Associate	27452673, 31315522, 32795273, 34245124, 38583438
Neoplasms	Stimulate	37017853
Precancerous Conditions	Associate	38583438
Prostatic Neoplasms	Associate	33290408
Sarcoidosis	Associate	29510755
Stomach Neoplasms	Associate	30390708

KNL1 (kinetochore scaffold 1)