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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	9735
Gene name	Kinetochore associated 1
Gene symbol	KNTC1
Synonyms (NCBI Gene)	ROD
Chromosome	12
Chromosome location	12q24.31
Summary	This gene encodes a protein that is one of many involved in mechanisms to ensure proper chromosome segregation during cell division. Experimental evidence indicated that the encoded protein functioned in a similar manner to that of the Drosophila rough de

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miRTarBase ID	miRNA	Experiments	Reference
MIRT016317	hsa-miR-193b-3p	Microarray	20304954
MIRT047167	hsa-miR-183-5p	CLASH	23622248
MIRT045471	hsa-miR-149-5p	CLASH	23622248
MIRT041835	hsa-miR-484	CLASH	23622248
MIRT656802	hsa-miR-129-1-3p	HITS-CLIP	23824327
MIRT656801	hsa-miR-129-2-3p	HITS-CLIP	23824327
MIRT656800	hsa-miR-5088-3p	HITS-CLIP	23824327
MIRT656799	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT656798	hsa-miR-4778-3p	HITS-CLIP	23824327
MIRT656797	hsa-miR-6886-3p	HITS-CLIP	23824327
MIRT656796	hsa-miR-623	HITS-CLIP	23824327
MIRT656795	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT656794	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT656793	hsa-miR-518a-5p	HITS-CLIP	23824327
MIRT656792	hsa-miR-527	HITS-CLIP	23824327
MIRT656791	hsa-miR-4288	HITS-CLIP	23824327
MIRT656790	hsa-miR-632	HITS-CLIP	23824327
MIRT656789	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT656788	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT656787	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT656786	hsa-miR-5584-3p	HITS-CLIP	23824327
MIRT656802	hsa-miR-129-1-3p	HITS-CLIP	23824327
MIRT656801	hsa-miR-129-2-3p	HITS-CLIP	23824327
MIRT656800	hsa-miR-5088-3p	HITS-CLIP	23824327
MIRT656799	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT656798	hsa-miR-4778-3p	HITS-CLIP	23824327
MIRT656797	hsa-miR-6886-3p	HITS-CLIP	23824327
MIRT656796	hsa-miR-623	HITS-CLIP	23824327
MIRT656795	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT656794	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT656793	hsa-miR-518a-5p	HITS-CLIP	23824327
MIRT656792	hsa-miR-527	HITS-CLIP	23824327
MIRT656791	hsa-miR-4288	HITS-CLIP	23824327
MIRT656790	hsa-miR-632	HITS-CLIP	23824327
MIRT656789	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT656788	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT656787	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT656786	hsa-miR-5584-3p	HITS-CLIP	23824327
MIRT1099505	hsa-miR-299-3p	CLIP-seq
MIRT1099506	hsa-miR-3151	CLIP-seq
MIRT1099507	hsa-miR-369-3p	CLIP-seq
MIRT1099508	hsa-miR-374a	CLIP-seq
MIRT1099509	hsa-miR-374b	CLIP-seq
MIRT1099510	hsa-miR-374c	CLIP-seq
MIRT1099511	hsa-miR-409-3p	CLIP-seq
MIRT1099512	hsa-miR-4447	CLIP-seq
MIRT1099513	hsa-miR-4472	CLIP-seq
MIRT1099514	hsa-miR-4666-5p	CLIP-seq
MIRT1099515	hsa-miR-4756-3p	CLIP-seq
MIRT1099516	hsa-miR-4797-5p	CLIP-seq
MIRT1099517	hsa-miR-491-5p	CLIP-seq
MIRT1099518	hsa-miR-556-3p	CLIP-seq
MIRT1099519	hsa-miR-655	CLIP-seq
MIRT2258258	hsa-miR-3115	CLIP-seq
MIRT2258259	hsa-miR-3675-5p	CLIP-seq
MIRT2258260	hsa-miR-486-3p	CLIP-seq

Show/Hide all (30)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000070	Process	Mitotic sister chromatid segregation	IBA
GO:0000775	Component	Chromosome, centromeric region	IEA
GO:0000776	Component	Kinetochore	IEA
GO:0000922	Component	Spindle pole	IDA	11146660
GO:0005515	Function	Protein binding	IPI	11146660, 12686595, 19468067, 20462495
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	NAS	11146660
GO:0005694	Component	Chromosome	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005819	Component	Spindle	IEA
GO:0005828	Component	Kinetochore microtubule	IBA
GO:0005828	Component	Kinetochore microtubule	IDA	11146660
GO:0005828	Component	Kinetochore microtubule	NAS	28320825
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IDA
GO:0007094	Process	Mitotic spindle assembly checkpoint signaling	IBA
GO:0007094	Process	Mitotic spindle assembly checkpoint signaling	IDA	11146660
GO:0007096	Process	Regulation of exit from mitosis	NAS	11146660
GO:0015629	Component	Actin cytoskeleton	IDA
GO:0031267	Function	Small GTPase binding	IBA
GO:0051301	Process	Cell division	IEA
GO:0051988	Process	Regulation of attachment of spindle microtubules to kinetochore	NAS	28320825
GO:0065003	Process	Protein-containing complex assembly	NAS	11146660
GO:1903394	Process	Protein localization to kinetochore involved in kinetochore assembly	IBA
GO:1990423	Component	RZZ complex	IBA
GO:1990423	Component	RZZ complex	IDA	20462495
GO:1990423	Component	RZZ complex	IPI	25849506

MIM	HGNC	e!Ensembl
607363	17255	ENSG00000184445

P50748

Protein name

Kinetochore-associated protein 1 (Rough deal homolog) (HsROD) (Rod) (hRod)

Protein 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 (PubMed:11146660, PubMed:11590237, PubMed:15824131).

PDB

7QPG

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF10493	Rod_C	486 → 926	Rough deal protein C-terminal region	Family
PF10493	Rod_C	1580 → 2129	Rough deal protein C-terminal region	Family

Tissue specificity

TISSUE SPECIFICITY: High expression in testis.

Sequence

MWNDIELLTNDDTGSGYLSVGSRKEHGTALYQVDLLVKISSEKASLNPKIQACSLSDGFI
IVADQSVILLDSICRSLQLHLVFDTEVDVVGLCQEGKFLLVGERSGNLHLIHVTSKQTLL
TNAFVQKANDENRRTYQNLVIEKDGSNEGTYYMLLLTYSGFFCITNLQLLKIQQAIENVD
FSTAKKLQGQIKSSFISTENYHTLGCLSLVAGDLASEVPVIIGGTGNCAFSKWEPDSSKK
GMTVKNLIDAEIIKGAKKFQLIDNLLFVLDTDNVLSLWDIYTLTPVWNWPSLHVEEFLLT
TEADSPSSVTWQGITNLKLIALTASANKKMKNLMVYSLPTMEILYSLEVSSVSSLVQTGI
STDTIYLLEGVCKNDPKLSEDSVSVLVLRCLTEALPENRLSRLLHKHRFAEAESFAIQFG
LDVELVYKVKSNHILEKLALSSVDASEQTEWQQLVDDAKENLHKIQDDEFVVNYCLKAQW
ITYETTQEMLNYAKTRLLKKEDKTALIYSDGLKEVLRAHAKLTTFYGAFGPEKFSGSSWI
EFLNNEDDLKDIFLQLKEGNLVCAQYLWLRHRANFESRFDVKMLESLLNSMSASVSLQKL
CPWFKNDVIPFVRRTVPEGQIILAKWLEQAARNLELTDKANWPENGLQLAEIFFTAEKTD
ELGLASSWHWISLKDYQNTEEVCQLRTLVNNLRELITLHRKYNCKLALSDFEKENTTTIV
FRMFDKVLAPELIPSILEKFIRVYMREHDLQEEELLLLYIEDLLNRCSSKSTSLFETAWE
AKAMAVIACLSDTDLIFDAVLKIMYAAVVPWSAAVEQLVKQHLEMDHPKVKLLQESYKLM
EMKKLLRGYGIREVNLLNKEIMRVVRYILKQDVPSSLEDALKVAQAFMLSDDEIYSLRII
DLIDREQGEDCLLLLKSLPPAEAEKTAERVIIWARLALQEEPDHSKEGKAWRMSVAKTSV
DILKILCDIQKDNLQKKDECEEMLKLFKEVASLQENFEVFLSFEDYSNSSLVADLREQHI
KAHEVAQAKHKPGSTPEPIAAEVRSPSMESKLHRQALALQMSKQELEAELTLRALKDGNI
KTALKKCSDLFKYHCNADTGKLLFLTCQKLCQMLADNVPVTVPVGLNLPSMIHDLASQAA
TICSPDFLLDALELCKHTLMAVELSRQCQMDDCGILMKASFGTHKDPYEEWSYSDFFSED
GIVLESQMVLPVIYELISSLVPLAESKRYPLESTSLPYCSLNEGDGLVLPVINSISALLQ
NLQESSQWELALRFVVGSFGTCLQHSVSNFMNATLSEKLFGETTLVKSRHVVMELKEKAV
IFIRENATTLLHKVFNCRLVDLDLALGYCTLLPQKDVFENLWKLIDKAWQNYDKILAISL
VGSELASLYQEIEMGLKFRELSTDAQWGIRLGKLGISFQPVFRQHFLTKKDLIKALVENI
DMDTSLILEYCSTFQLDCDAVLQLFIETLLHNTNAGQGQGDASMDSAKRRHPKLLAKALE
MVPLLTSTKDLVISLSGILHKLDPYDYEMIEVVLKVIERADEKITNININQALSILKHLK
SYRRISPPVDLEYQYMLEHVITLPSAAQTRLPFHLIFFGTAQNFWKILSTELSEESFPTL
LLISKLMKFSLDTLYVSTAKHVFEKKLKPKLLKLTQAKSSTLINKEITKITQTIESCLLS
IVNPEWAVAIAISLAQDIPEGSFKISALKFCLYLAERWLQNIPSQDEKREKAEALLKKLH
IQYRRSGTEAVLIAHKLNTEEYLRVIGKPAHLIVSLYEHPSINQRIQNSSGTDYPDIHAA
AKEIAEVNEINLEKVWDMLLEKWLCPSTKPGEKPSELFELQEDEALRRVQYLLLSRPIDY
SSRMLFVFATSTTTTLGMHQLTFAHRTRALQCLFYLADKETIESLFKKPIEEVKSYLRCI
TFLASFETLNIPITYELFCSSPKEGMIKGLWKNHSHESMAVRLVTELCLEYKIYDLQLWN
GLLQKLLGFNMIPYLRKVLKAISSIHSLWQVPYFSKAWQRVIQIPLLSASCPLSPDQLSD
CSESLIAVLECPVSGDLDLIGVARQYIQLELPAFALACLMLMPHSEKRHQQIKNFLGSCD
PQVILKQLEEHMNTGQLAGFSHQIRSLILNNIINKKEFGILAKTKYFQMLKMHAMNTNNI
TELVNYLANDLSLDEASVLITEYSKHCGKPVPPDTAPCEILKMFLSGLS

Sequence length

2209

Interactions

View interactions

	Reactome
			Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal Separation of Sister Chromatids Resolution of Sister Chromatid Cohesion RHO GTPases Activate Formins Mitotic Prometaphase EML4 and NUDC in mitotic spindle formation

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
PARKINSON DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (33)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acute intermittent porphyria	Intermittent Porphyria	BEFREE	29039547		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	32650679	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	30124607		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	35852618, 36233194	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	19664251	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	9892106		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gallbladder Neoplasms	Gallbladder neoplasm	Pubtator	37480569	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatomegaly	Hepatomegaly	Pubtator	37480569	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liposarcoma, well differentiated	liposarcoma	BEFREE	11734312, 7520271, 9892106		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	19664251	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoproliferative Disorders	Lymphoproliferative Disorder	BEFREE	28421369		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	21388066		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	21388066, 30628654		★★★★★ ★☆☆☆☆ Found in Text Mining only
Marginal Zone B-Cell Lymphoma	B-Cell Lymphoma	BEFREE	28514197		★★★★★ ★☆☆☆☆ Found in Text Mining only
Meniere Disease	Meniere disease	Pubtator	35741759	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mucosa-Associated Lymphoid Tissue Lymphoma	Mucosa-associated lymphoma	BEFREE	28421369, 28514197		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myositis	Myositis	BEFREE	28972022		★★★★★ ★☆☆☆☆ Found in Text Mining only
Necrosis	Necrosis	Pubtator	37480569	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	20444257	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Neuropathy	Optic Neuropathy	BEFREE	31215395		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	35852618	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pleomorphic Lipoma	Lipoma	BEFREE	9892106		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	33622336	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	36035209	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	29148976		★★★★★ ★☆☆☆☆ Found in Text Mining only
Scleritis	Scleritis	BEFREE	28858963		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	30628654		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	26152289, 37480569	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	21388066		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid associated opthalmopathies	Thyroid eye disease	BEFREE	30124607		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	26063960	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	33302814, 33616161, 38453655	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uveitis	Uveitis	BEFREE	28858963		★★★★★ ★☆☆☆☆ Found in Text Mining only

KNTC1 (kinetochore associated 1)