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UniProtKB - Q8NG31 (KNL1_HUMAN)

Protein

Kinetochore scaffold 1

Gene

KNL1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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

View the complete GO annotation on QuickGO ...

Keywordsi

Biological processCell cycle, Cell division, Chromosome partition, Mitosis

Enzyme and pathway databases

ReactomeiR-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
SIGNORiQ8NG31

Names & Taxonomyi

Protein namesi
Recommended name:
Kinetochore scaffold 1
Alternative 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
Name:KNL1Imported
Synonyms:CASC5, KIAA1570
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 15

Organism-specific databases

EuPathDBiHostDB:ENSG00000137812.19
HGNCiHGNC:24054 KNL1
MIMi609173 gene
neXtProtiNX_Q8NG31

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Centromere, Chromosome, Kinetochore, Nucleus

Pathology & 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 mutations 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.
See also OMIM:604321
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0690852041M → I in MCPH4; may inactivate an exonic splicing enhancer and result in abnormal splicing. 2 PublicationsCorresponds to variant dbSNP:rs763915472Ensembl.1

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei1818 – 1819Breakpoint for translocation to form KMT2A-KNL11 Publication2

Keywords - Diseasei

Disease mutation, Mental retardation, Primary microcephaly

Organism-specific databases

DisGeNETi57082
GeneReviewsiCASC5
MalaCardsiKNL1
MIMi604321 phenotype
OpenTargetsiENSG00000137812
Orphaneti2512 Autosomal recessive primary microcephaly
PharmGKBiPA142672201

Polymorphism and mutation databases

DMDMi223590239

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000893271 – 2342Kinetochore scaffold 1Add BLAST2342

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei32PhosphoserineCombined sources1
Modified residuei60PhosphoserineCombined sources1
Modified residuei539PhosphothreonineCombined sources1
Modified residuei578PhosphoserineCombined sources1
Modified residuei584PhosphoserineCombined sources1
Modified residuei586PhosphothreonineCombined sources1
Modified residuei767PhosphoserineCombined sources1
Modified residuei956PhosphoserineCombined sources1
Modified residuei1039PhosphoserineCombined sources1
Modified residuei1076PhosphoserineCombined sources1
Modified residuei1088PhosphoserineCombined sources1
Modified residuei1448PhosphoserineCombined sources1
Modified residuei1675PhosphoserineCombined sources1
Modified residuei1773PhosphoserineCombined sources1
Modified residuei1831PhosphoserineCombined sources1
Modified residuei1845PhosphoserineCombined sources1
Modified residuei1860PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ8NG31
MaxQBiQ8NG31
PaxDbiQ8NG31
PeptideAtlasiQ8NG31
PRIDEiQ8NG31
ProteomicsDBi73413
73414 [Q8NG31-2]
73415 [Q8NG31-3]
73416 [Q8NG31-4]

PTM databases

iPTMnetiQ8NG31
PhosphoSitePlusiQ8NG31

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

BgeeiENSG00000137812 Expressed in 125 organ(s), highest expression level in testis
CleanExiHS_CASC5
ExpressionAtlasiQ8NG31 baseline and differential
GenevisibleiQ8NG31 HS

Organism-specific databases

HPAiHPA026624
HPA049647

Interactioni

Subunit structurei

Interacts with DSN1, MIS12, BUB1, BUB1B, NSL1 and ZWINT.2 Publications

Binary interactionsi

Protein-protein interaction databases

BioGridi121354, 50 interactors
DIPiDIP-36474N
ELMiQ8NG31
IntActiQ8NG31, 48 interactors
MINTiQ8NG31
STRINGi9606.ENSP00000335463

Structurei

Secondary structure

12342
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliQ8NG31
SMRiQ8NG31
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ8NG31

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati885 – 9891Add BLAST105
Repeati1099 – 12012Add BLAST103

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1 – 728Interaction with BUB1 and BUB1B1 PublicationAdd BLAST728
Regioni855 – 12012 X 104 AA approximate repeatsAdd BLAST347
Regioni1834 – 2316Necessary for kinetochore localization and for interaction with NSL1 and DSN11 PublicationAdd BLAST483

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili1942 – 2133Sequence analysisAdd BLAST192

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi1789 – 1803Nuclear localization signalSequence analysisAdd BLAST15

Keywords - Domaini

Coiled coil, Repeat

Phylogenomic databases

eggNOGiENOG410IF9C Eukaryota
ENOG410XZXJ LUCA
GeneTreeiENSGT00410000025918
HOGENOMiHOG000246954
HOVERGENiHBG080986
InParanoidiQ8NG31
KOiK11542
OMAiMGAETHI
OrthoDBiEOG091G0YZU
PhylomeDBiQ8NG31
TreeFamiTF335517

Family and domain databases

InterProiView protein in InterPro
IPR037388 Blinkin
PANTHERiPTHR16520 PTHR16520, 2 hits

Sequences (4+)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

This 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 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        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
Length:2,342
Mass (Da):265,391
Last modified:February 10, 2009 - v3
Checksum:i8E29150CA4F5B5C1
GO
Isoform 2 (identifier: Q8NG31-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     84-109: Missing.

Show »
Length:2,316
Mass (Da):262,632
Checksum:iA04548DF87BCA275
GO
Isoform 3 (identifier: Q8NG31-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     84-109: Missing.
     1764-1772: LIETYQKEI → VGTRRRRYS
     1773-2342: Missing.

Show »
Length:1,746
Mass (Da):195,604
Checksum:i3D0CEE718D1D2370
GO
Isoform 4 (identifier: Q8NG31-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     84-109: Missing.
     1819-1859: IFDHHTEEDI...SLDSIKADGT → VSSVLNQRMF...SGRQKIIIST
     1860-2342: Missing.

Show »
Length:1,833
Mass (Da):205,826
Checksum:iCB7FF1D71B561F62
GO

Computationally mapped potential isoform sequencesi

There are 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9PPJ1E9PPJ1_HUMAN
Kinetochore scaffold 1
KNL1
1,746Annotation score:
H0YCZ2H0YCZ2_HUMAN
Kinetochore scaffold 1
KNL1
1,361Annotation score:
H0YEY7H0YEY7_HUMAN
Kinetochore scaffold 1
KNL1
193Annotation score:
H0YN41H0YN41_HUMAN
Kinetochore scaffold 1
KNL1
80Annotation score:
A0A0G2JL96A0A0G2JL96_HUMAN
Kinetochore scaffold 1
KNL1
10Annotation score:
A0A1Y8EIW7A0A1Y8EIW7_HUMAN
Kinetochore scaffold 1
KNL1
7Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti37L → H in AAM45143 (PubMed:12618768).Curated1
Sequence conflicti1332P → A in BAC05691 (PubMed:12087463).Curated1
Sequence conflicti1357N → H in BAC05691 (PubMed:12087463).Curated1
Sequence conflicti1756N → Y in BAC05691 (PubMed:12087463).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02642843R → T1 PublicationCorresponds to variant dbSNP:rs7177192EnsemblClinVar.1
Natural variantiVAR_02642970T → A. Corresponds to variant dbSNP:rs16970874Ensembl.1
Natural variantiVAR_026430113T → A1 PublicationCorresponds to variant dbSNP:rs12911738EnsemblClinVar.1
Natural variantiVAR_061568177M → V. Corresponds to variant dbSNP:rs35146555Ensembl.1
Natural variantiVAR_026431486A → S2 PublicationsCorresponds to variant dbSNP:rs2412541EnsemblClinVar.1
Natural variantiVAR_054342598M → T4 PublicationsCorresponds to variant dbSNP:rs11858113EnsemblClinVar.1
Natural variantiVAR_026432936R → G3 PublicationsCorresponds to variant dbSNP:rs8040502Ensembl.1
Natural variantiVAR_0615691190L → V. Corresponds to variant dbSNP:rs58614880Ensembl.1
Natural variantiVAR_0264331285K → E1 PublicationCorresponds to variant dbSNP:rs17747633EnsemblClinVar.1
Natural variantiVAR_0264341473T → A1 PublicationCorresponds to variant dbSNP:rs16970911EnsemblClinVar.1
Natural variantiVAR_0690852041M → I in MCPH4; may inactivate an exonic splicing enhancer and result in abnormal splicing. 2 PublicationsCorresponds to variant dbSNP:rs763915472Ensembl.1
Natural variantiVAR_0615702338C → Y. Corresponds to variant dbSNP:rs61164860Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_01379584 – 109Missing in isoform 2, isoform 3 and isoform 4. 2 PublicationsAdd BLAST26
Alternative sequenceiVSP_0137961764 – 1772LIETYQKEI → VGTRRRRYS in isoform 3. 1 Publication9
Alternative sequenceiVSP_0137971773 – 2342Missing in isoform 3. 1 PublicationAdd BLAST570
Alternative sequenceiVSP_0185241819 – 1859IFDHH…KADGT → VSSVLNQRMFLNFGFCFVFL NCGYSQILILVSGRQKIIIS T in isoform 4. 1 PublicationAdd BLAST41
Alternative sequenceiVSP_0185251860 – 2342Missing in isoform 4. 1 PublicationAdd BLAST483

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
CCDSiCCDS42023.1 [Q8NG31-1]
CCDS42024.1 [Q8NG31-2]
RefSeqiNP_653091.3, NM_144508.4 [Q8NG31-2]
NP_733468.3, NM_170589.4 [Q8NG31-1]
UniGeneiHs.181855

Genome annotation databases

EnsembliENST00000346991; ENSP00000335463; ENSG00000137812 [Q8NG31-1]
ENST00000399668; ENSP00000382576; ENSG00000137812 [Q8NG31-2]
GeneIDi57082
KEGGihsa:57082
UCSCiuc010bbs.2 human [Q8NG31-1]

Keywords - Coding sequence diversityi

Alternative splicing, Chromosomal rearrangement, Polymorphism

Similar 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
CCDSiCCDS42023.1 [Q8NG31-1]
CCDS42024.1 [Q8NG31-2]
RefSeqiNP_653091.3, NM_144508.4 [Q8NG31-2]
NP_733468.3, NM_170589.4 [Q8NG31-1]
UniGeneiHs.181855

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3SI5X-ray2.20X/Y234-252[»]
4A1GX-ray2.60E/F/G/H176-226[»]
4NF9X-ray2.80A/B2117-2337[»]
4NFAX-ray2.50A2131-2337[»]
ProteinModelPortaliQ8NG31
SMRiQ8NG31
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi121354, 50 interactors
DIPiDIP-36474N
ELMiQ8NG31
IntActiQ8NG31, 48 interactors
MINTiQ8NG31
STRINGi9606.ENSP00000335463

PTM databases

iPTMnetiQ8NG31
PhosphoSitePlusiQ8NG31

Polymorphism and mutation databases

DMDMi223590239

Proteomic databases

EPDiQ8NG31
MaxQBiQ8NG31
PaxDbiQ8NG31
PeptideAtlasiQ8NG31
PRIDEiQ8NG31
ProteomicsDBi73413
73414 [Q8NG31-2]
73415 [Q8NG31-3]
73416 [Q8NG31-4]

Protocols and materials databases

DNASUi57082
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000346991; ENSP00000335463; ENSG00000137812 [Q8NG31-1]
ENST00000399668; ENSP00000382576; ENSG00000137812 [Q8NG31-2]
GeneIDi57082
KEGGihsa:57082
UCSCiuc010bbs.2 human [Q8NG31-1]

Organism-specific databases

CTDi57082
DisGeNETi57082
EuPathDBiHostDB:ENSG00000137812.19
GeneCardsiKNL1
GeneReviewsiCASC5
HGNCiHGNC:24054 KNL1
HPAiHPA026624
HPA049647
MalaCardsiKNL1
MIMi604321 phenotype
609173 gene
neXtProtiNX_Q8NG31
OpenTargetsiENSG00000137812
Orphaneti2512 Autosomal recessive primary microcephaly
PharmGKBiPA142672201
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IF9C Eukaryota
ENOG410XZXJ LUCA
GeneTreeiENSGT00410000025918
HOGENOMiHOG000246954
HOVERGENiHBG080986
InParanoidiQ8NG31
KOiK11542
OMAiMGAETHI
OrthoDBiEOG091G0YZU
PhylomeDBiQ8NG31
TreeFamiTF335517

Enzyme and pathway databases

ReactomeiR-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
SIGNORiQ8NG31

Miscellaneous databases

ChiTaRSiKNL1 human
EvolutionaryTraceiQ8NG31
GeneWikiiCASC5
GenomeRNAii57082
PROiPR:Q8NG31
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000137812 Expressed in 125 organ(s), highest expression level in testis
CleanExiHS_CASC5
ExpressionAtlasiQ8NG31 baseline and differential
GenevisibleiQ8NG31 HS

Family and domain databases

InterProiView protein in InterPro
IPR037388 Blinkin
PANTHERiPTHR16520 PTHR16520, 2 hits
ProtoNetiSearch...

Entry informationi

Entry nameiKNL1_HUMAN
AccessioniPrimary (citable) accession number: Q8NG31
Secondary accession number(s): Q8NHE1
, Q8WXA6, Q9HCK2, Q9NR92
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 24, 2005
Last sequence update: February 10, 2009
Last modified: November 7, 2018
This is version 138 of the entry and version 3 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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, Complete proteome, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  5. Human chromosome 15
    Human chromosome 15: entries, gene names and cross-references to MIM
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