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Protein

Kinetochore-associated protein 1

Gene

KNTC1

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

Functioni

Essential component of the mitotic checkpoint, which prevents cells from prematurely exiting mitosis. Required for the assembly of the dynein-dynactin and MAD1-MAD2 complexes onto kinetochores (PubMed:11146660, PubMed:11590237, PubMed:15824131). Its function related to the spindle assembly machinery is proposed to depend on its association in the mitotic RZZ complex.Curated3 Publications

GO - Biological processi

  • cell division Source: UniProtKB-KW
  • mitotic cell cycle checkpoint Source: UniProtKB
  • protein-containing complex assembly Source: UniProtKB
  • regulation of exit from mitosis Source: UniProtKB

Keywordsi

Biological processCell cycle, Cell division, 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-68877 Mitotic Prometaphase

Names & Taxonomyi

Protein namesi
Recommended name:
Kinetochore-associated protein 1
Alternative name(s):
Rough deal homolog
Short name:
HsROD
Short name:
Rod
Short name:
hRod
Gene namesi
Name:KNTC1
Synonyms:KIAA0166
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

EuPathDBiHostDB:ENSG00000184445.11
HGNCiHGNC:17255 KNTC1
MIMi607363 gene
neXtProtiNX_P50748

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, Cytoplasm, Cytoskeleton, Kinetochore, Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi9735
OpenTargetsiENSG00000184445
PharmGKBiPA30184

Polymorphism and mutation databases

BioMutaiKNTC1
DMDMi1723117

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000843121 – 2209Kinetochore-associated protein 1Add BLAST2209

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei1035PhosphothreonineCombined sources1
Modified residuei1045PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiP50748
MaxQBiP50748
PaxDbiP50748
PeptideAtlasiP50748
PRIDEiP50748
ProteomicsDBi56261

PTM databases

iPTMnetiP50748
PhosphoSitePlusiP50748

Expressioni

Tissue specificityi

High expression in testis.

Gene expression databases

BgeeiENSG00000184445 Expressed in 180 organ(s), highest expression level in lung
CleanExiHS_KNTC1
ExpressionAtlasiP50748 baseline and differential
GenevisibleiP50748 HS

Organism-specific databases

HPAiHPA025241

Interactioni

Subunit structurei

Interacts with ZW10; the interaction is required for stable association with the kinetochore. Component of the RZZ complex composed of KNTC1/ROD, ZW10 and ZWILCH; in the complex interacts directly with ZWILCH.3 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
ZWILCHQ9H9002EBI-1001245,EBI-1001239

Protein-protein interaction databases

BioGridi115084, 33 interactors
DIPiDIP-36479N
IntActiP50748, 7 interactors
STRINGi9606.ENSP00000328236

Structurei

3D structure databases

ProteinModelPortaliP50748
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Phylogenomic databases

eggNOGiKOG4256 Eukaryota
ENOG410YKFS LUCA
GeneTreeiENSGT00390000007883
HOGENOMiHOG000001565
HOVERGENiHBG052269
InParanoidiP50748
KOiK11577
OMAiKFIRVYM
OrthoDBiEOG091G01K5
PhylomeDBiP50748
TreeFamiTF101176

Family and domain databases

InterProiView protein in InterPro
IPR019527 RZZ-complex_KNTC1/ROD_C
IPR036322 WD40_repeat_dom_sf
PfamiView protein in Pfam
PF10493 Rod_C, 1 hit
SUPFAMiSSF50978 SSF50978, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P50748-1) [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
MWNDIELLTN DDTGSGYLSV GSRKEHGTAL YQVDLLVKIS SEKASLNPKI
60 70 80 90 100
QACSLSDGFI IVADQSVILL DSICRSLQLH LVFDTEVDVV GLCQEGKFLL
110 120 130 140 150
VGERSGNLHL IHVTSKQTLL TNAFVQKAND ENRRTYQNLV IEKDGSNEGT
160 170 180 190 200
YYMLLLTYSG FFCITNLQLL KIQQAIENVD FSTAKKLQGQ IKSSFISTEN
210 220 230 240 250
YHTLGCLSLV AGDLASEVPV IIGGTGNCAF SKWEPDSSKK GMTVKNLIDA
260 270 280 290 300
EIIKGAKKFQ LIDNLLFVLD TDNVLSLWDI YTLTPVWNWP SLHVEEFLLT
310 320 330 340 350
TEADSPSSVT WQGITNLKLI ALTASANKKM KNLMVYSLPT MEILYSLEVS
360 370 380 390 400
SVSSLVQTGI STDTIYLLEG VCKNDPKLSE DSVSVLVLRC LTEALPENRL
410 420 430 440 450
SRLLHKHRFA EAESFAIQFG LDVELVYKVK SNHILEKLAL SSVDASEQTE
460 470 480 490 500
WQQLVDDAKE NLHKIQDDEF VVNYCLKAQW ITYETTQEML NYAKTRLLKK
510 520 530 540 550
EDKTALIYSD GLKEVLRAHA KLTTFYGAFG PEKFSGSSWI EFLNNEDDLK
560 570 580 590 600
DIFLQLKEGN LVCAQYLWLR HRANFESRFD VKMLESLLNS MSASVSLQKL
610 620 630 640 650
CPWFKNDVIP FVRRTVPEGQ IILAKWLEQA ARNLELTDKA NWPENGLQLA
660 670 680 690 700
EIFFTAEKTD ELGLASSWHW ISLKDYQNTE EVCQLRTLVN NLRELITLHR
710 720 730 740 750
KYNCKLALSD FEKENTTTIV FRMFDKVLAP ELIPSILEKF IRVYMREHDL
760 770 780 790 800
QEEELLLLYI EDLLNRCSSK STSLFETAWE AKAMAVIACL SDTDLIFDAV
810 820 830 840 850
LKIMYAAVVP WSAAVEQLVK QHLEMDHPKV KLLQESYKLM EMKKLLRGYG
860 870 880 890 900
IREVNLLNKE IMRVVRYILK QDVPSSLEDA LKVAQAFMLS DDEIYSLRII
910 920 930 940 950
DLIDREQGED CLLLLKSLPP AEAEKTAERV IIWARLALQE EPDHSKEGKA
960 970 980 990 1000
WRMSVAKTSV DILKILCDIQ KDNLQKKDEC EEMLKLFKEV ASLQENFEVF
1010 1020 1030 1040 1050
LSFEDYSNSS LVADLREQHI KAHEVAQAKH KPGSTPEPIA AEVRSPSMES
1060 1070 1080 1090 1100
KLHRQALALQ MSKQELEAEL TLRALKDGNI KTALKKCSDL FKYHCNADTG
1110 1120 1130 1140 1150
KLLFLTCQKL CQMLADNVPV TVPVGLNLPS MIHDLASQAA TICSPDFLLD
1160 1170 1180 1190 1200
ALELCKHTLM AVELSRQCQM DDCGILMKAS FGTHKDPYEE WSYSDFFSED
1210 1220 1230 1240 1250
GIVLESQMVL PVIYELISSL VPLAESKRYP LESTSLPYCS LNEGDGLVLP
1260 1270 1280 1290 1300
VINSISALLQ NLQESSQWEL ALRFVVGSFG TCLQHSVSNF MNATLSEKLF
1310 1320 1330 1340 1350
GETTLVKSRH VVMELKEKAV IFIRENATTL LHKVFNCRLV DLDLALGYCT
1360 1370 1380 1390 1400
LLPQKDVFEN LWKLIDKAWQ NYDKILAISL VGSELASLYQ EIEMGLKFRE
1410 1420 1430 1440 1450
LSTDAQWGIR LGKLGISFQP VFRQHFLTKK DLIKALVENI DMDTSLILEY
1460 1470 1480 1490 1500
CSTFQLDCDA VLQLFIETLL HNTNAGQGQG DASMDSAKRR HPKLLAKALE
1510 1520 1530 1540 1550
MVPLLTSTKD LVISLSGILH KLDPYDYEMI EVVLKVIERA DEKITNININ
1560 1570 1580 1590 1600
QALSILKHLK SYRRISPPVD LEYQYMLEHV ITLPSAAQTR LPFHLIFFGT
1610 1620 1630 1640 1650
AQNFWKILST ELSEESFPTL LLISKLMKFS LDTLYVSTAK HVFEKKLKPK
1660 1670 1680 1690 1700
LLKLTQAKSS TLINKEITKI TQTIESCLLS IVNPEWAVAI AISLAQDIPE
1710 1720 1730 1740 1750
GSFKISALKF CLYLAERWLQ NIPSQDEKRE KAEALLKKLH IQYRRSGTEA
1760 1770 1780 1790 1800
VLIAHKLNTE EYLRVIGKPA HLIVSLYEHP SINQRIQNSS GTDYPDIHAA
1810 1820 1830 1840 1850
AKEIAEVNEI NLEKVWDMLL EKWLCPSTKP GEKPSELFEL QEDEALRRVQ
1860 1870 1880 1890 1900
YLLLSRPIDY SSRMLFVFAT STTTTLGMHQ LTFAHRTRAL QCLFYLADKE
1910 1920 1930 1940 1950
TIESLFKKPI EEVKSYLRCI TFLASFETLN IPITYELFCS SPKEGMIKGL
1960 1970 1980 1990 2000
WKNHSHESMA VRLVTELCLE YKIYDLQLWN GLLQKLLGFN MIPYLRKVLK
2010 2020 2030 2040 2050
AISSIHSLWQ VPYFSKAWQR VIQIPLLSAS CPLSPDQLSD CSESLIAVLE
2060 2070 2080 2090 2100
CPVSGDLDLI GVARQYIQLE LPAFALACLM LMPHSEKRHQ QIKNFLGSCD
2110 2120 2130 2140 2150
PQVILKQLEE HMNTGQLAGF SHQIRSLILN NIINKKEFGI LAKTKYFQML
2160 2170 2180 2190 2200
KMHAMNTNNI TELVNYLAND LSLDEASVLI TEYSKHCGKP VPPDTAPCEI

LKMFLSGLS
Length:2,209
Mass (Da):250,749
Last modified:October 1, 1996 - v1
Checksum:i514C948733CBFDAC
GO
Isoform 2 (identifier: P50748-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1575: Missing.
     2011-2018: VPYFSKAW → RWRSCYVA
     2019-2209: Missing.

Note: No experimental confirmation available.
Show »
Length:443
Mass (Da):51,102
Checksum:i5BE89E57935B68AE
GO

Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E7ES84E7ES84_HUMAN
Kinetochore-associated protein 1
KNTC1
1,134Annotation score:
F5H5V0F5H5V0_HUMAN
Kinetochore-associated protein 1
KNTC1
130Annotation score:
H0YFL5H0YFL5_HUMAN
Kinetochore-associated protein 1
KNTC1
208Annotation score:
J3KQF2J3KQF2_HUMAN
Kinetochore-associated protein 1
KNTC1
104Annotation score:

Sequence cautioni

The sequence BAA11483 differs from that shown. Reason: Erroneous initiation.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_051082245K → N. Corresponds to variant dbSNP:rs7968222Ensembl.1
Natural variantiVAR_051083738E → D. Corresponds to variant dbSNP:rs17883249Ensembl.1
Natural variantiVAR_0510841506T → M. Corresponds to variant dbSNP:rs35315099Ensembl.1
Natural variantiVAR_0510851830P → L. Corresponds to variant dbSNP:rs7310898Ensembl.1
Natural variantiVAR_0510862021V → G. Corresponds to variant dbSNP:rs11837038Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0570131 – 1575Missing in isoform 2. 1 PublicationAdd BLAST1575
Alternative sequenceiVSP_0570142011 – 2018VPYFSKAW → RWRSCYVA in isoform 2. 1 Publication8
Alternative sequenceiVSP_0570152019 – 2209Missing in isoform 2. 1 PublicationAdd BLAST191

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
D79988 mRNA Translation: BAA11483.2 Different initiation.
AK093470 mRNA Translation: BAG52724.1
AC026333 Genomic DNA No translation available.
AC127002 Genomic DNA No translation available.
CH471054 Genomic DNA Translation: EAW98334.1
BC150278 mRNA Translation: AAI50279.1
CCDSiCCDS45002.1 [P50748-1]
RefSeqiNP_055523.1, NM_014708.4 [P50748-1]
XP_006719769.1, XM_006719706.2 [P50748-1]
UniGeneiHs.300559
Hs.689083

Genome annotation databases

EnsembliENST00000333479; ENSP00000328236; ENSG00000184445 [P50748-1]
GeneIDi9735
KEGGihsa:9735
UCSCiuc001ucv.4 human [P50748-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
D79988 mRNA Translation: BAA11483.2 Different initiation.
AK093470 mRNA Translation: BAG52724.1
AC026333 Genomic DNA No translation available.
AC127002 Genomic DNA No translation available.
CH471054 Genomic DNA Translation: EAW98334.1
BC150278 mRNA Translation: AAI50279.1
CCDSiCCDS45002.1 [P50748-1]
RefSeqiNP_055523.1, NM_014708.4 [P50748-1]
XP_006719769.1, XM_006719706.2 [P50748-1]
UniGeneiHs.300559
Hs.689083

3D structure databases

ProteinModelPortaliP50748
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115084, 33 interactors
DIPiDIP-36479N
IntActiP50748, 7 interactors
STRINGi9606.ENSP00000328236

PTM databases

iPTMnetiP50748
PhosphoSitePlusiP50748

Polymorphism and mutation databases

BioMutaiKNTC1
DMDMi1723117

Proteomic databases

EPDiP50748
MaxQBiP50748
PaxDbiP50748
PeptideAtlasiP50748
PRIDEiP50748
ProteomicsDBi56261

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000333479; ENSP00000328236; ENSG00000184445 [P50748-1]
GeneIDi9735
KEGGihsa:9735
UCSCiuc001ucv.4 human [P50748-1]

Organism-specific databases

CTDi9735
DisGeNETi9735
EuPathDBiHostDB:ENSG00000184445.11
GeneCardsiKNTC1
HGNCiHGNC:17255 KNTC1
HPAiHPA025241
MIMi607363 gene
neXtProtiNX_P50748
OpenTargetsiENSG00000184445
PharmGKBiPA30184
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4256 Eukaryota
ENOG410YKFS LUCA
GeneTreeiENSGT00390000007883
HOGENOMiHOG000001565
HOVERGENiHBG052269
InParanoidiP50748
KOiK11577
OMAiKFIRVYM
OrthoDBiEOG091G01K5
PhylomeDBiP50748
TreeFamiTF101176

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-68877 Mitotic Prometaphase

Miscellaneous databases

ChiTaRSiKNTC1 human
GenomeRNAii9735
PROiPR:P50748
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000184445 Expressed in 180 organ(s), highest expression level in lung
CleanExiHS_KNTC1
ExpressionAtlasiP50748 baseline and differential
GenevisibleiP50748 HS

Family and domain databases

InterProiView protein in InterPro
IPR019527 RZZ-complex_KNTC1/ROD_C
IPR036322 WD40_repeat_dom_sf
PfamiView protein in Pfam
PF10493 Rod_C, 1 hit
SUPFAMiSSF50978 SSF50978, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiKNTC1_HUMAN
AccessioniPrimary (citable) accession number: P50748
Secondary accession number(s): A7E2C4, B3KSG2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: October 1, 1996
Last modified: November 7, 2018
This is version 153 of the entry and version 1 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

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. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
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