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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	57082
Gene name Gene Name - the full gene name approved by the HGNC.	Kinetochore scaffold 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	KNL1
Synonyms (NCBI Gene) Gene synonyms aliases	AF15Q14, CASC5, CT29, D40, MCPH4, PPP1R55, Spc7, hKNL-1, hSpc105
Chromosome Chromosome number	15
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	15q15.1
Summary Summary of gene provided in NCBI Entrez Gene.	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

Protein

UniProt ID

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

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Microcephaly	microcephaly 4, primary, autosomal recessive	rs763915472, rs797045430, rs863225127, rs1555420891, rs979186313, rs758157294	N/A

Show/Hide Unknown Diseases (3)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Diabetes	Type 2 diabetes or prostate cancer (pleiotropy)	N/A	N/A	GWAS
Prostate cancer	Prostate cancer	N/A	N/A	GWAS
Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	N/A	N/A	GWAS

Show/Hide Text Mining Associations (17)

Disease Name	Relationship Type	References
Associations from Text Mining Disease 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)