P50748 (KNTC1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Kinetochore-associated protein 1

Alternative name(s):
Rough deal homolog
Short name=HsROD
Short name=Rod
Short name=hRod

Gene names

Name:	KNTC1
Synonyms:	KIAA0166

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	2209 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	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. Ref.4 Ref.5 Ref.7
Subunit structure	Interacts with ZW10. This interaction is required for stable association with the kinetochore. Component of the RZZ complex composed of KNTC1/ROD, ZW10 and ZWILCH. Ref.6
Subcellular location	Cytoplasm. Nucleus. Chromosome › centromere › kinetochore. Cytoplasm › cytoskeleton › spindle. Note: Dynamic pattern of localization during the cell cycle. At interphase, uniformly distributed throughout the cytoplasm and nucleus. By prophase and until late stages of prometaphase, a fraction of the total pool is concentrated at kinetochores. By metaphase, detected at kinetochores, along spindle fibers and most prominently at the poles. By late anaphase until the end of telophase, no longer detectable on kinetochores or along spindle fibers, but still present at the spindle poles. Ref.4 Ref.5
Tissue specificity	High expression in testis.
Sequence caution	The sequence BAA11483.2 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
Biological process	Cell cycle Cell division Mitosis
Cellular component	Centromere Chromosome Cytoplasm Cytoskeleton Kinetochore Nucleus
Coding sequence diversity	Polymorphism
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	cell division Inferred from electronic annotation. Source: UniProtKB-KW mitotic cell cycle checkpoint Inferred from direct assay Ref.4. Source: UniProtKB mitotic prometaphase Traceable author statement. Source: Reactome protein complex assembly Non-traceable author statement Ref.4. Source: UniProtKB regulation of exit from mitosis Non-traceable author statement Ref.4. Source: UniProtKB
Cellular component	condensed chromosome kinetochore Inferred from electronic annotation. Source: UniProtKB-SubCell cytosol Traceable author statement. Source: Reactome kinetochore microtubule Inferred from direct assay Ref.4. Source: UniProtKB nucleus Non-traceable author statement Ref.4. Source: UniProtKB spindle pole Inferred from direct assay Ref.4. Source: UniProtKB
Molecular function	protein binding Inferred from physical interaction Ref.4Ref.6. Source: UniProtKB
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 2209	2209	Kinetochore-associated protein 1		PRO_0000084312
Amino acid modifications
	Modified residue	441	1	Phosphoserine Ref.9
	Modified residue	442	1	Phosphoserine Ref.9
	Modified residue	446	1	Phosphoserine Ref.9
	Modified residue	2098	1	Phosphoserine Ref.8
Natural variations
	Natural variant	245	1	K → N. Corresponds to variant rs7968222 [ dbSNP | Ensembl ].		VAR_051082
	Natural variant	738	1	E → D. Corresponds to variant rs17883249 [ dbSNP | Ensembl ].		VAR_051083
	Natural variant	1506	1	T → M. Corresponds to variant rs35315099 [ dbSNP | Ensembl ].		VAR_051084
	Natural variant	1830	1	P → L. Corresponds to variant rs7310898 [ dbSNP | Ensembl ].		VAR_051085
	Natural variant	2021	1	V → G. Corresponds to variant rs11837038 [ dbSNP | Ensembl ].		VAR_051086

Sequences

	Sequence		Length	Mass (Da)
	P50748 [UniParc]. Last modified October 1, 1996. Version 1. Checksum: 514C948733CBFDAC	FASTA	2,209	250,749
	10 20 30 40 50 60 MWNDIELLTN DDTGSGYLSV GSRKEHGTAL YQVDLLVKIS SEKASLNPKI QACSLSDGFI 70 80 90 100 110 120 IVADQSVILL DSICRSLQLH LVFDTEVDVV GLCQEGKFLL VGERSGNLHL IHVTSKQTLL 130 140 150 160 170 180 TNAFVQKAND ENRRTYQNLV IEKDGSNEGT YYMLLLTYSG FFCITNLQLL KIQQAIENVD 190 200 210 220 230 240 FSTAKKLQGQ IKSSFISTEN YHTLGCLSLV AGDLASEVPV IIGGTGNCAF SKWEPDSSKK 250 260 270 280 290 300 GMTVKNLIDA EIIKGAKKFQ LIDNLLFVLD TDNVLSLWDI YTLTPVWNWP SLHVEEFLLT 310 320 330 340 350 360 TEADSPSSVT WQGITNLKLI ALTASANKKM KNLMVYSLPT MEILYSLEVS SVSSLVQTGI 370 380 390 400 410 420 STDTIYLLEG VCKNDPKLSE DSVSVLVLRC LTEALPENRL SRLLHKHRFA EAESFAIQFG 430 440 450 460 470 480 LDVELVYKVK SNHILEKLAL SSVDASEQTE WQQLVDDAKE NLHKIQDDEF VVNYCLKAQW 490 500 510 520 530 540 ITYETTQEML NYAKTRLLKK EDKTALIYSD GLKEVLRAHA KLTTFYGAFG PEKFSGSSWI 550 560 570 580 590 600 EFLNNEDDLK DIFLQLKEGN LVCAQYLWLR HRANFESRFD VKMLESLLNS MSASVSLQKL 610 620 630 640 650 660 CPWFKNDVIP FVRRTVPEGQ IILAKWLEQA ARNLELTDKA NWPENGLQLA EIFFTAEKTD 670 680 690 700 710 720 ELGLASSWHW ISLKDYQNTE EVCQLRTLVN NLRELITLHR KYNCKLALSD FEKENTTTIV 730 740 750 760 770 780 FRMFDKVLAP ELIPSILEKF IRVYMREHDL QEEELLLLYI EDLLNRCSSK STSLFETAWE 790 800 810 820 830 840 AKAMAVIACL SDTDLIFDAV LKIMYAAVVP WSAAVEQLVK QHLEMDHPKV KLLQESYKLM 850 860 870 880 890 900 EMKKLLRGYG IREVNLLNKE IMRVVRYILK QDVPSSLEDA LKVAQAFMLS DDEIYSLRII 910 920 930 940 950 960 DLIDREQGED CLLLLKSLPP AEAEKTAERV IIWARLALQE EPDHSKEGKA WRMSVAKTSV 970 980 990 1000 1010 1020 DILKILCDIQ KDNLQKKDEC EEMLKLFKEV ASLQENFEVF LSFEDYSNSS LVADLREQHI 1030 1040 1050 1060 1070 1080 KAHEVAQAKH KPGSTPEPIA AEVRSPSMES KLHRQALALQ MSKQELEAEL TLRALKDGNI 1090 1100 1110 1120 1130 1140 KTALKKCSDL FKYHCNADTG KLLFLTCQKL CQMLADNVPV TVPVGLNLPS MIHDLASQAA 1150 1160 1170 1180 1190 1200 TICSPDFLLD ALELCKHTLM AVELSRQCQM DDCGILMKAS FGTHKDPYEE WSYSDFFSED 1210 1220 1230 1240 1250 1260 GIVLESQMVL PVIYELISSL VPLAESKRYP LESTSLPYCS LNEGDGLVLP VINSISALLQ 1270 1280 1290 1300 1310 1320 NLQESSQWEL ALRFVVGSFG TCLQHSVSNF MNATLSEKLF GETTLVKSRH VVMELKEKAV 1330 1340 1350 1360 1370 1380 IFIRENATTL LHKVFNCRLV DLDLALGYCT LLPQKDVFEN LWKLIDKAWQ NYDKILAISL 1390 1400 1410 1420 1430 1440 VGSELASLYQ EIEMGLKFRE LSTDAQWGIR LGKLGISFQP VFRQHFLTKK DLIKALVENI 1450 1460 1470 1480 1490 1500 DMDTSLILEY CSTFQLDCDA VLQLFIETLL HNTNAGQGQG DASMDSAKRR HPKLLAKALE 1510 1520 1530 1540 1550 1560 MVPLLTSTKD LVISLSGILH KLDPYDYEMI EVVLKVIERA DEKITNININ QALSILKHLK 1570 1580 1590 1600 1610 1620 SYRRISPPVD LEYQYMLEHV ITLPSAAQTR LPFHLIFFGT AQNFWKILST ELSEESFPTL 1630 1640 1650 1660 1670 1680 LLISKLMKFS LDTLYVSTAK HVFEKKLKPK LLKLTQAKSS TLINKEITKI TQTIESCLLS 1690 1700 1710 1720 1730 1740 IVNPEWAVAI AISLAQDIPE GSFKISALKF CLYLAERWLQ NIPSQDEKRE KAEALLKKLH 1750 1760 1770 1780 1790 1800 IQYRRSGTEA VLIAHKLNTE EYLRVIGKPA HLIVSLYEHP SINQRIQNSS GTDYPDIHAA 1810 1820 1830 1840 1850 1860 AKEIAEVNEI NLEKVWDMLL EKWLCPSTKP GEKPSELFEL QEDEALRRVQ YLLLSRPIDY 1870 1880 1890 1900 1910 1920 SSRMLFVFAT STTTTLGMHQ LTFAHRTRAL QCLFYLADKE TIESLFKKPI EEVKSYLRCI 1930 1940 1950 1960 1970 1980 TFLASFETLN IPITYELFCS SPKEGMIKGL WKNHSHESMA VRLVTELCLE YKIYDLQLWN 1990 2000 2010 2020 2030 2040 GLLQKLLGFN MIPYLRKVLK AISSIHSLWQ VPYFSKAWQR VIQIPLLSAS CPLSPDQLSD 2050 2060 2070 2080 2090 2100 CSESLIAVLE CPVSGDLDLI GVARQYIQLE LPAFALACLM LMPHSEKRHQ QIKNFLGSCD 2110 2120 2130 2140 2150 2160 PQVILKQLEE HMNTGQLAGF SHQIRSLILN NIINKKEFGI LAKTKYFQML KMHAMNTNNI 2170 2180 2190 2200 TELVNYLAND LSLDEASVLI TEYSKHCGKP VPPDTAPCEI LKMFLSGLS

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Prediction of the coding sequences of unidentified human genes. V. The coding sequences of 40 new genes (KIAA0161-KIAA0200) deduced by analysis of cDNA clones from human cell line KG-1." Nagase T., Seki N., Ishikawa K., Tanaka A., Nomura N. DNA Res. 3:17-24(1996) [PubMed: 8724849] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Bone marrow.
[2]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[4]	"Human Zw10 and ROD are mitotic checkpoint proteins that bind to kinetochores." Chan G.K.T., Jablonski S.A., Starr D.A., Goldberg M.L., Yen T.J. Nat. Cell Biol. 2:944-947(2000) [PubMed: 11146660] [Abstract] Cited for: FUNCTION, SUBCELLULAR LOCATION.
[5]	"The ZW10 and Rough Deal checkpoint proteins function together in a large, evolutionarily conserved complex targeted to the kinetochore." Scaeerou F., Starr D.A., Piano F., Papoulas O., Karess R.E., Goldberg M.L. J. Cell Sci. 114:3103-3114(2001) [PubMed: 11590237] [Abstract] Cited for: FUNCTION, SUBCELLULAR LOCATION.
[6]	"Zwilch, a new component of the ZW10/ROD complex required for kinetochore functions." Williams B.C., Li Z., Liu S., Williams E.V., Leung G., Yen T.J., Goldberg M.L. Mol. Biol. Cell 14:1379-1391(2003) [PubMed: 12686595] [Abstract] Cited for: INTERACTION WITH ZWILCH AND ZW10.
[7]	"ZW10 links mitotic checkpoint signaling to the structural kinetochore." Kops G.J.P.L., Kim Y., Weaver B.A.A., Mao Y., McLeod I., Yates J.R. III, Tagaya M., Cleveland D.W. J. Cell Biol. 169:49-60(2005) [PubMed: 15824131] [Abstract] Cited for: FUNCTION, IDENTIFICATION IN THE RZZ COMPLEX.
[8]	"Improved titanium dioxide enrichment of phosphopeptides from HeLa cells and high confident phosphopeptide identification by cross-validation of MS/MS and MS/MS/MS spectra." Yu L.-R., Zhu Z., Chan K.C., Issaq H.J., Dimitrov D.S., Veenstra T.D. J. Proteome Res. 6:4150-4162(2007) [PubMed: 17924679] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-2098, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[9]	"Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions." Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K. Sci. Signal. 2:RA46-RA46(2009) [PubMed: 19690332] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-441; SER-442 AND SER-446, MASS SPECTROMETRY. Tissue: Leukemic T-cell.
[10]	"Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed: 21269460] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	D79988 mRNA. Translation: BAA11483.2. Different initiation. CH471054 Genomic DNA. Translation: EAW98334.1. BC150278 mRNA. Translation: AAI50279.1.
IPI	IPI00001458.
RefSeq	NP_055523.1. NM_014708.4.
UniGene	Hs.300559.
3D structure databases
ProteinModelPortal	P50748.
ModBase	Search...
Protein-protein interaction databases
DIP	DIP-36479N.
IntAct	P50748. 2 interactions.
STRING	P50748.
PTM databases
PhosphoSite	P50748.
Polymorphism databases
DMDM	1723117.
Proteomic databases
PRIDE	P50748.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000333479; ENSP00000328236; ENSG00000184445.
GeneID	9735.
KEGG	hsa:9735.
UCSC	uc001ucv.1. human.
Organism-specific databases
CTD	9735.
GeneCards	GC12P123011.
H-InvDB	HIX0022171.
HGNC	HGNC:17255. KNTC1.
HPA	HPA025241.
MIM	607363. gene.
neXtProt	NX_P50748.
PharmGKB	PA30184.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG14944.
GeneTree	ENSGT00390000007883.
HOGENOM	HBG402831.
HOVERGEN	HBG052269.
InParanoid	P50748.
OMA	GTHKDPY.
OrthoDB	EOG4G7BXF.
PhylomeDB	P50748.
Enzyme and pathway databases
Reactome	REACT_152. Cell Cycle, Mitotic. REACT_383. DNA Replication.
Gene expression databases
ArrayExpress	P50748.
Bgee	P50748.
CleanEx	HS_KNTC1.
Genevestigator	P50748.
GermOnline	ENSG00000184445. Homo sapiens.
Family and domain databases
InterPro	IPR019527. RZZ-complex_KNTC1/ROD_C. [Graphical view]
KO	K11577.
Pfam	PF10493. Rod_C. 1 hit. [Graphical view]
ProtoNet	Search...
Other
NextBio	36632.
SOURCE	Search...

Entry information

Entry name

KNTC1_HUMAN

Accession

Primary (citable) accession number: P50748
Secondary accession number(s): A7E2C4

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 1, 1996
Last sequence update:	October 1, 1996
Last modified:	January 25, 2012
This is version 92 of the entry and version 1 of the sequence. [Complete history]

Entry status

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.