UniProtKB - Q8NG31 (KNL1_HUMAN)
Protein
Kinetochore scaffold 1
Gene
KNL1
Organism
Homo sapiens (Human)
Status
Functioni
Performs two crucial functions during mitosis: it is essential for spindle-assembly checkpoint signaling and for correct chromosome alignment. Required for attachment of the kinetochores to the spindle microtubules. Directly links BUB1 and BUB1B to kinetochores. Part of the MIS12 complex, which may be fundamental for kinetochore formation and proper chromosome segregation during mitosis. Acts in coordination with CENPK to recruit the NDC80 complex to the outer kinetochore.3 Publications
GO - Biological processi
- acrosome assembly Source: UniProtKB
- attachment of spindle microtubules to kinetochore Source: UniProtKB
- cell division Source: UniProtKB-KW
- CENP-A containing nucleosome assembly Source: Reactome
- negative regulation of phosphatase activity Source: UniProtKB
- protein localization to kinetochore Source: MGI
Keywordsi
Biological process | Cell cycle, Cell division, Chromosome partition, Mitosis |
Enzyme and pathway databases
PathwayCommonsi | Q8NG31 |
Reactomei | R-HSA-141444, Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal R-HSA-2467813, Separation of Sister Chromatids R-HSA-2500257, Resolution of Sister Chromatid Cohesion R-HSA-5663220, RHO GTPases Activate Formins R-HSA-606279, Deposition of new CENPA-containing nucleosomes at the centromere R-HSA-68877, Mitotic Prometaphase R-HSA-9648025, EML4 and NUDC in mitotic spindle formation |
SIGNORi | Q8NG31 |
Names & Taxonomyi
Protein namesi | Recommended name: Kinetochore scaffold 1Alternative name(s): ALL1-fused gene from chromosome 15q14 protein Short name: AF15q14 Bub-linking kinetochore protein Short name: Blinkin Cancer susceptibility candidate gene 5 protein Cancer/testis antigen 29 Short name: CT29 Kinetochore-null protein 1 Protein CASC5 Protein D40/AF15q14 |
Gene namesi | |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:24054, KNL1 |
MIMi | 609173, gene |
neXtProti | NX_Q8NG31 |
VEuPathDBi | HostDB:ENSG00000137812.19 |
Subcellular locationi
Nucleus
Other locations
Note: 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.
Cytosol
- cytosol Source: Reactome
Nucleus
- nuclear body Source: HPA
- nucleoplasm Source: HPA
- nucleus Source: UniProtKB
Other locations
- acrosomal vesicle Source: UniProtKB
- condensed chromosome kinetochore Source: WormBase
Keywords - Cellular componenti
Centromere, Chromosome, Kinetochore, NucleusPathology & Biotechi
Involvement in diseasei
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.1 Publication
Microcephaly 4, primary, autosomal recessive (MCPH4)2 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA disease defined as a head circumference more than 3 standard deviations below the age-related mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. Despite this marked reduction in size, the gyral pattern is relatively well preserved, with no major abnormality in cortical architecture. Affected individuals are mentally retarded. Primary microcephaly is further defined by the absence of other syndromic features or significant neurological deficits due to degenerative brain disorder.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_069085 | 2041 | M → I in MCPH4; may inactivate an exonic splicing enhancer and result in abnormal splicing. 2 PublicationsCorresponds to variant dbSNP:rs763915472Ensembl. | 1 |
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sitei | 1818 – 1819 | Breakpoint for translocation to form KMT2A-KNL11 Publication | 2 |
Keywords - Diseasei
Disease variant, Mental retardation, Primary microcephalyOrganism-specific databases
DisGeNETi | 57082 |
MalaCardsi | KNL1 |
MIMi | 604321, phenotype |
OpenTargetsi | ENSG00000137812 |
Orphaneti | 2512, Autosomal recessive primary microcephaly |
PharmGKBi | PA142672201 |
Miscellaneous databases
Pharosi | Q8NG31, Tbio |
Genetic variation databases
BioMutai | KNL1 |
DMDMi | 223590239 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000089327 | 1 – 2342 | Kinetochore scaffold 1Add BLAST | 2342 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 32 | PhosphoserineCombined sources | 1 | |
Modified residuei | 60 | PhosphoserineCombined sources | 1 | |
Modified residuei | 539 | PhosphothreonineCombined sources | 1 | |
Modified residuei | 578 | PhosphoserineCombined sources | 1 | |
Modified residuei | 584 | PhosphoserineCombined sources | 1 | |
Modified residuei | 586 | PhosphothreonineCombined sources | 1 | |
Modified residuei | 767 | PhosphoserineCombined sources | 1 | |
Modified residuei | 956 | PhosphoserineCombined sources | 1 | |
Modified residuei | 1039 | PhosphoserineCombined sources | 1 | |
Modified residuei | 1076 | PhosphoserineCombined sources | 1 | |
Modified residuei | 1088 | PhosphoserineCombined sources | 1 | |
Modified residuei | 1448 | PhosphoserineCombined sources | 1 | |
Modified residuei | 1675 | PhosphoserineCombined sources | 1 | |
Modified residuei | 1773 | PhosphoserineCombined sources | 1 | |
Modified residuei | 1831 | PhosphoserineCombined sources | 1 | |
Modified residuei | 1845 | PhosphoserineCombined sources | 1 | |
Modified residuei | 1860 | PhosphoserineCombined sources | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
EPDi | Q8NG31 |
jPOSTi | Q8NG31 |
MassIVEi | Q8NG31 |
MaxQBi | Q8NG31 |
PaxDbi | Q8NG31 |
PeptideAtlasi | Q8NG31 |
PRIDEi | Q8NG31 |
ProteomicsDBi | 73413 [Q8NG31-1] 73414 [Q8NG31-2] 73415 [Q8NG31-3] 73416 [Q8NG31-4] |
PTM databases
iPTMneti | Q8NG31 |
PhosphoSitePlusi | Q8NG31 |
Expressioni
Tissue specificityi
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.3 Publications
Gene expression databases
Bgeei | ENSG00000137812, Expressed in testis and 142 other tissues |
ExpressionAtlasi | Q8NG31, baseline and differential |
Genevisiblei | Q8NG31, HS |
Organism-specific databases
HPAi | ENSG00000137812, Group enriched (lymphoid tissue, testis) |
Interactioni
Subunit structurei
Interacts with DSN1, MIS12, BUB1, BUB1B, NSL1 and ZWINT.
2 PublicationsBinary interactionsi
Hide detailsQ8NG31
With | #Exp. | IntAct |
---|---|---|
BUB1 [O43683] | 2 | EBI-1001161,EBI-748936 |
PPP1CA [P62136] | 2 | EBI-1001161,EBI-357253 |
Isoform 2 [Q8NG31-2]
With | #Exp. | IntAct |
---|---|---|
BUB1 [O43683] | 3 | EBI-10973816,EBI-748936 |
BUB1B [O60566] | 10 | EBI-10973816,EBI-1001438 |
Protein-protein interaction databases
BioGRIDi | 121354, 65 interactors |
ComplexPortali | CPX-5644, Kinetochore KNL1 complex |
CORUMi | Q8NG31 |
DIPi | DIP-36474N |
ELMi | Q8NG31 |
IntActi | Q8NG31, 56 interactors |
MINTi | Q8NG31 |
STRINGi | 9606.ENSP00000335463 |
Miscellaneous databases
RNActi | Q8NG31, protein |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
BMRBi | Q8NG31 |
SMRi | Q8NG31 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | Q8NG31 |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Repeati | 885 – 989 | 1Add BLAST | 105 | |
Repeati | 1099 – 1201 | 2Add BLAST | 103 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 1 – 728 | Interaction with BUB1 and BUB1B1 PublicationAdd BLAST | 728 | |
Regioni | 855 – 1201 | 2 X 104 AA approximate repeatsAdd BLAST | 347 | |
Regioni | 1834 – 2316 | Necessary for kinetochore localization and for interaction with NSL1 and DSN11 PublicationAdd BLAST | 483 |
Coiled coil
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Coiled coili | 1942 – 2133 | Sequence analysisAdd BLAST | 192 |
Motif
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Motifi | 1789 – 1803 | Nuclear localization signalSequence analysisAdd BLAST | 15 |
Keywords - Domaini
Coiled coil, RepeatPhylogenomic databases
eggNOGi | ENOG502QW5H, Eukaryota |
GeneTreei | ENSGT00410000025918 |
InParanoidi | Q8NG31 |
OMAi | ITRSHTI |
OrthoDBi | 1249457at2759 |
PhylomeDBi | Q8NG31 |
TreeFami | TF335517 |
Family and domain databases
DisProti | DP01269 |
IDEALi | IID00417 |
InterProi | View protein in InterPro IPR037388, Blinkin IPR043651, KNL1_MELT_rep IPR040850, Knl1_RWD_C |
PANTHERi | PTHR16520, PTHR16520, 1 hit |
Pfami | View protein in Pfam PF18210, Knl1_RWD_C, 1 hit PF19221, MELT, 12 hits |
s (4+)i Sequence
Sequence statusi: Complete.
This entry describes 4 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 4 described isoforms and 6 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: Q8NG31-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MDGVSSEANE ENDNIERPVR RRHSSILKPP RSPLQDLRGG NERVQESNAL
60 70 80 90 100
RNKKNSRRVS FADTIKVFQT ESHMKIVRKS EMEGCSAMVP SQLQLLPPGF
110 120 130 140 150
KRFSCLSLPE TETGENLLLI QNKKLEDNYC EITGMNTLLS APIHTQMQQK
160 170 180 190 200
EFSIIEHTRE RKHANDQTVI FSDENQMDLT SSHTVMITKG LLDNPISEKS
210 220 230 240 250
TKIDTTSFLA NLKLHTEDSR MKKEVNFSVD QNTSSENKID FNDFIKRLKT
260 270 280 290 300
GKCSAFPDVP DKENFEIPIY SKEPNSASST HQMHVSLKED ENNSNITRLF
310 320 330 340 350
REKDDGMNFT QCHTANIQTL IPTSSETNSR ESKGNDITIY GNDFMDLTFN
360 370 380 390 400
HTLQILPATG NFSEIENQTQ NAMDVTTGYG TKASGNKTVF KSKQNTAFQD
410 420 430 440 450
LSINSADKIH ITRSHIMGAE THIVSQTCNQ DARILAMTPE SIYSNPSIQG
460 470 480 490 500
CKTVFYSSCN DAMEMTKCLS NMREEKNLLK HDSNYAKMYC NPDAMSSLTE
510 520 530 540 550
KTIYSGEENM DITKSHTVAI DNQIFKQDQS NVQIAAAPTP EKEMMLQNLM
560 570 580 590 600
TTSEDGKMNV NCNSVPHVSK ERIQQSLSNP LSISLTDRKT ELLSGENMDL
610 620 630 640 650
TESHTSNLGS QVPLAAYNLA PESTSESHSQ SKSSSDECEE ITKSRNEPFQ
660 670 680 690 700
RSDIIAKNSL TDTWNKDKDW VLKILPYLDK DSPQSADCNQ EIATSHNIVY
710 720 730 740 750
CGGVLDKQIT NRNTVSWEQS LFSTTKPLFS SGQFSMKNHD TAISSHTVKS
760 770 780 790 800
VLGQNSKLAE PLRKSLSNPT PDYCHDKMII CSEEEQNMDL TKSHTVVIGF
810 820 830 840 850
GPSELQELGK TNLEHTTGQL TTMNRQIAVK VEKCGKSPIE KSGVLKSNCI
860 870 880 890 900
MDVLEDESVQ KPKFPKEKQN VKIWGRKSVG GPKIDKTIVF SEDDKNDMDI
910 920 930 940 950
TKSYTIEINH RPLLEKRDCH LVPLAGTSET ILYTCRQDDM EITRSHTTAL
960 970 980 990 1000
ECKTVSPDEI TTRPMDKTVV FVDNHVELEM TESHTVFIDY QEKERTDRPN
1010 1020 1030 1040 1050
FELSQRKSLG TPTVICTPTE ESVFFPGNGE SDRLVANDSQ LTPLEEWSNN
1060 1070 1080 1090 1100
RGPVEVADNM ELSKSATCKN IKDVQSPGFL NEPLSSKSQR RKSLKLKNDK
1110 1120 1130 1140 1150
TIVFSENHKN DMDITQSCMV EIDNESALED KEDFHLAGAS KTILYSCGQD
1160 1170 1180 1190 1200
DMEITRSHTT ALECKTLLPN EIAIRPMDKT VLFTDNYSDL EVTDSHTVFI
1210 1220 1230 1240 1250
DCQATEKILE ENPKFGIGKG KNLGVSFPKD NSCVQEIAEK QALAVGNKIV
1260 1270 1280 1290 1300
LHTEQKQQLF AATNRTTNEI IKFHSAAMDE KVIGKVVDQA CTLEKAQVES
1310 1320 1330 1340 1350
CQLNNRDRRN VDFTSSHATA VCGSSDNYSC LPNVISCTDN LEGSAMLLCD
1360 1370 1380 1390 1400
KDEEKANYCP VQNDLAYAND FASEYYLESE GQPLSAPCPL LEKEEVIQTS
1410 1420 1430 1440 1450
TKGQLDCVIT LHKDQDLIKD PRNLLANQTL VYSQDLGEMT KLNSKRVSFK
1460 1470 1480 1490 1500
LPKDQMKVYV DDIYVIPQPH FSTDQPPLPK KGQSSINKEE VILSKAGNKS
1510 1520 1530 1540 1550
LNIIENSSAP ICENKPKILN SEEWFAAACK KELKENIQTT NYNTALDFHS
1560 1570 1580 1590 1600
NSDVTKQVIQ THVNAGEAPD PVITSNVPCF HSIKPNLNNL NGKTGEFLAF
1610 1620 1630 1640 1650
QTVHLPPLPE QLLELGNKAH NDMHIVQATE IHNINIISSN AKDSRDEENK
1660 1670 1680 1690 1700
KSHNGAETTS LPPKTVFKDK VRRCSLGIFL PRLPNKRNCS VTGIDDLEQI
1710 1720 1730 1740 1750
PADTTDINHL ETQPVSSKDS GIGSVAGKLN LSPSQYINEE NLPVYPDEIN
1760 1770 1780 1790 1800
SSDSINIETE EKALIETYQK EISPYENKMG KTCNSQKRTW VQEEEDIHKE
1810 1820 1830 1840 1850
KKIRKNEIKF SDTTQDREIF DHHTEEDIDK SANSVLIKNL SRTPSSCSSS
1860 1870 1880 1890 1900
LDSIKADGTS LDFSTYRSSQ MESQFLRDTI CEESLREKLQ DGRITIREFF
1910 1920 1930 1940 1950
ILLQVHILIQ KPRQSNLPGN FTVNTPPTPE DLMLSQYVYR PKIQIYREDC
1960 1970 1980 1990 2000
EARRQKIEEL KLSASNQDKL LVDINKNLWE KMRHCSDKEL KAFGIYLNKI
2010 2020 2030 2040 2050
KSCFTKMTKV FTHQGKVALY GKLVQSAQNE REKLQIKIDE MDKILKKIDN
2060 2070 2080 2090 2100
CLTEMETETK NLEDEEKNNP VEEWDSEMRA AEKELEQLKT EEEELQRNLL
2110 2120 2130 2140 2150
ELEVQKEQTL AQIDFMQKQR NRTEELLDQL SLSEWDVVEW SDDQAVFTFV
2160 2170 2180 2190 2200
YDTIQLTITF EESVVGFPFL DKRYRKIVDV NFQSLLDEDQ APPSSLLVHK
2210 2220 2230 2240 2250
LIFQYVEEKE SWKKTCTTQH QLPKMLEEFS LVVHHCRLLG EEIEYLKRWG
2260 2270 2280 2290 2300
PNYNLMNIDI NNNELRLLFS SSAAFAKFEI TLFLSAYYPS VPLPSTIQNH
2310 2320 2330 2340
VGNTSQDDIA TILSKVPLEN NYLKNVVKQI YQDLFQDCHF YH
Computationally mapped potential isoform sequencesi
There are 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketE9PPJ1 | E9PPJ1_HUMAN | Kinetochore scaffold 1 | KNL1 | 1,746 | Annotation score: | ||
H0YCZ2 | H0YCZ2_HUMAN | Kinetochore scaffold 1 | KNL1 | 1,361 | Annotation score: | ||
H0YEY7 | H0YEY7_HUMAN | Kinetochore scaffold 1 | KNL1 | 193 | Annotation score: | ||
H0YN41 | H0YN41_HUMAN | Kinetochore scaffold 1 | KNL1 | 80 | Annotation score: | ||
A0A0G2JL96 | A0A0G2JL96_HUMAN | Kinetochore scaffold 1 | KNL1 | 10 | Annotation score: | ||
A0A1Y8EIW7 | A0A1Y8EIW7_HUMAN | Kinetochore scaffold 1 | KNL1 | 7 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 37 | L → H in AAM45143 (PubMed:12618768).Curated | 1 | |
Sequence conflicti | 1332 | P → A in BAC05691 (PubMed:12087463).Curated | 1 | |
Sequence conflicti | 1357 | N → H in BAC05691 (PubMed:12087463).Curated | 1 | |
Sequence conflicti | 1756 | N → Y in BAC05691 (PubMed:12087463).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_026428 | 43 | R → T1 PublicationCorresponds to variant dbSNP:rs7177192Ensembl. | 1 | |
Natural variantiVAR_026429 | 70 | T → A. Corresponds to variant dbSNP:rs16970874Ensembl. | 1 | |
Natural variantiVAR_026430 | 113 | T → A1 PublicationCorresponds to variant dbSNP:rs12911738Ensembl. | 1 | |
Natural variantiVAR_061568 | 177 | M → V. Corresponds to variant dbSNP:rs35146555Ensembl. | 1 | |
Natural variantiVAR_026431 | 486 | A → S2 PublicationsCorresponds to variant dbSNP:rs2412541Ensembl. | 1 | |
Natural variantiVAR_054342 | 598 | M → T4 PublicationsCorresponds to variant dbSNP:rs11858113Ensembl. | 1 | |
Natural variantiVAR_026432 | 936 | R → G3 PublicationsCorresponds to variant dbSNP:rs8040502EnsemblClinVar. | 1 | |
Natural variantiVAR_061569 | 1190 | L → V. Corresponds to variant dbSNP:rs58614880Ensembl. | 1 | |
Natural variantiVAR_026433 | 1285 | K → E1 PublicationCorresponds to variant dbSNP:rs17747633Ensembl. | 1 | |
Natural variantiVAR_026434 | 1473 | T → A1 PublicationCorresponds to variant dbSNP:rs16970911Ensembl. | 1 | |
Natural variantiVAR_069085 | 2041 | M → I in MCPH4; may inactivate an exonic splicing enhancer and result in abnormal splicing. 2 PublicationsCorresponds to variant dbSNP:rs763915472Ensembl. | 1 | |
Natural variantiVAR_061570 | 2338 | C → Y. Corresponds to variant dbSNP:rs61164860Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_013795 | 84 – 109 | Missing in isoform 2, isoform 3 and isoform 4. 2 PublicationsAdd BLAST | 26 | |
Alternative sequenceiVSP_013796 | 1764 – 1772 | LIETYQKEI → VGTRRRRYS in isoform 3. 1 Publication | 9 | |
Alternative sequenceiVSP_013797 | 1773 – 2342 | Missing in isoform 3. 1 PublicationAdd BLAST | 570 | |
Alternative sequenceiVSP_018524 | 1819 – 1859 | IFDHH…KADGT → VSSVLNQRMFLNFGFCFVFL NCGYSQILILVSGRQKIIIS T in isoform 4. 1 PublicationAdd BLAST | 41 | |
Alternative sequenceiVSP_018525 | 1860 – 2342 | Missing in isoform 4. 1 PublicationAdd BLAST | 483 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF248041 mRNA Translation: AAF97513.1 AF461041 mRNA Translation: AAL67803.1 AB022190 mRNA Translation: BAC05691.1 AF173994 mRNA Translation: AAM45143.1 AC022405 Genomic DNA No translation available. AB046790 mRNA Translation: BAB13396.1 |
CCDSi | CCDS42023.1 [Q8NG31-1] CCDS42024.1 [Q8NG31-2] |
RefSeqi | NP_653091.3, NM_144508.4 [Q8NG31-2] NP_733468.3, NM_170589.4 [Q8NG31-1] |
Genome annotation databases
Ensembli | ENST00000346991; ENSP00000335463; ENSG00000137812 [Q8NG31-1] ENST00000399668; ENSP00000382576; ENSG00000137812 [Q8NG31-2] |
GeneIDi | 57082 |
KEGGi | hsa:57082 |
UCSCi | uc010bbs.2, human [Q8NG31-1] |
Keywords - Coding sequence diversityi
Alternative splicing, Chromosomal rearrangementSimilar proteinsi
Cross-referencesi
Web resourcesi
Atlas of Genetics and Cytogenetics in Oncology and Haematology |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF248041 mRNA Translation: AAF97513.1 AF461041 mRNA Translation: AAL67803.1 AB022190 mRNA Translation: BAC05691.1 AF173994 mRNA Translation: AAM45143.1 AC022405 Genomic DNA No translation available. AB046790 mRNA Translation: BAB13396.1 |
CCDSi | CCDS42023.1 [Q8NG31-1] CCDS42024.1 [Q8NG31-2] |
RefSeqi | NP_653091.3, NM_144508.4 [Q8NG31-2] NP_733468.3, NM_170589.4 [Q8NG31-1] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
3SI5 | X-ray | 2.20 | X/Y | 234-252 | [»] | |
4A1G | X-ray | 2.60 | E/F/G/H | 176-226 | [»] | |
4NF9 | X-ray | 2.80 | A/B | 2117-2337 | [»] | |
4NFA | X-ray | 2.50 | A | 2131-2337 | [»] | |
BMRBi | Q8NG31 | |||||
SMRi | Q8NG31 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 121354, 65 interactors |
ComplexPortali | CPX-5644, Kinetochore KNL1 complex |
CORUMi | Q8NG31 |
DIPi | DIP-36474N |
ELMi | Q8NG31 |
IntActi | Q8NG31, 56 interactors |
MINTi | Q8NG31 |
STRINGi | 9606.ENSP00000335463 |
PTM databases
iPTMneti | Q8NG31 |
PhosphoSitePlusi | Q8NG31 |
Genetic variation databases
BioMutai | KNL1 |
DMDMi | 223590239 |
Proteomic databases
EPDi | Q8NG31 |
jPOSTi | Q8NG31 |
MassIVEi | Q8NG31 |
MaxQBi | Q8NG31 |
PaxDbi | Q8NG31 |
PeptideAtlasi | Q8NG31 |
PRIDEi | Q8NG31 |
ProteomicsDBi | 73413 [Q8NG31-1] 73414 [Q8NG31-2] 73415 [Q8NG31-3] 73416 [Q8NG31-4] |
Protocols and materials databases
Antibodypediai | 23122, 110 antibodies |
CPTCi | Q8NG31, 1 antibody |
DNASUi | 57082 |
Genome annotation databases
Ensembli | ENST00000346991; ENSP00000335463; ENSG00000137812 [Q8NG31-1] ENST00000399668; ENSP00000382576; ENSG00000137812 [Q8NG31-2] |
GeneIDi | 57082 |
KEGGi | hsa:57082 |
UCSCi | uc010bbs.2, human [Q8NG31-1] |
Organism-specific databases
CTDi | 57082 |
DisGeNETi | 57082 |
GeneCardsi | KNL1 |
HGNCi | HGNC:24054, KNL1 |
HPAi | ENSG00000137812, Group enriched (lymphoid tissue, testis) |
MalaCardsi | KNL1 |
MIMi | 604321, phenotype 609173, gene |
neXtProti | NX_Q8NG31 |
OpenTargetsi | ENSG00000137812 |
Orphaneti | 2512, Autosomal recessive primary microcephaly |
PharmGKBi | PA142672201 |
VEuPathDBi | HostDB:ENSG00000137812.19 |
HUGEi | Search... |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502QW5H, Eukaryota |
GeneTreei | ENSGT00410000025918 |
InParanoidi | Q8NG31 |
OMAi | ITRSHTI |
OrthoDBi | 1249457at2759 |
PhylomeDBi | Q8NG31 |
TreeFami | TF335517 |
Enzyme and pathway databases
PathwayCommonsi | Q8NG31 |
Reactomei | R-HSA-141444, Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal R-HSA-2467813, Separation of Sister Chromatids R-HSA-2500257, Resolution of Sister Chromatid Cohesion R-HSA-5663220, RHO GTPases Activate Formins R-HSA-606279, Deposition of new CENPA-containing nucleosomes at the centromere R-HSA-68877, Mitotic Prometaphase R-HSA-9648025, EML4 and NUDC in mitotic spindle formation |
SIGNORi | Q8NG31 |
Miscellaneous databases
BioGRID-ORCSi | 57082, 559 hits in 883 CRISPR screens |
ChiTaRSi | KNL1, human |
EvolutionaryTracei | Q8NG31 |
GeneWikii | CASC5 |
GenomeRNAii | 57082 |
Pharosi | Q8NG31, Tbio |
PROi | PR:Q8NG31 |
RNActi | Q8NG31, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000137812, Expressed in testis and 142 other tissues |
ExpressionAtlasi | Q8NG31, baseline and differential |
Genevisiblei | Q8NG31, HS |
Family and domain databases
DisProti | DP01269 |
IDEALi | IID00417 |
InterProi | View protein in InterPro IPR037388, Blinkin IPR043651, KNL1_MELT_rep IPR040850, Knl1_RWD_C |
PANTHERi | PTHR16520, PTHR16520, 1 hit |
Pfami | View protein in Pfam PF18210, Knl1_RWD_C, 1 hit PF19221, MELT, 12 hits |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | KNL1_HUMAN | |
Accessioni | Q8NG31Primary (citable) accession number: Q8NG31 Secondary accession number(s): Q8NHE1 Q9NR92 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | May 24, 2005 |
Last sequence update: | February 10, 2009 | |
Last modified: | February 10, 2021 | |
This is version 155 of the entry and version 3 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human chromosome 15
Human chromosome 15: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references