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	5108
Gene name	Pericentriolar material 1
Gene symbol	PCM1
Synonyms (NCBI Gene)	PTC4RET/PCM-1
Chromosome	8
Chromosome location	8p22
Summary	The protein encoded by this gene is a component of centriolar satellites, which are electron dense granules scattered around centrosomes. Inhibition studies show that this protein is essential for the correct localization of several centrosomal proteins,

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miRTarBase ID	miRNA	Experiments	Reference
MIRT049852	hsa-miR-33a-5p	CLASH	23622248
MIRT1217846	hsa-miR-1193	CLIP-seq
MIRT1217847	hsa-miR-1202	CLIP-seq
MIRT1217848	hsa-miR-1267	CLIP-seq
MIRT1217849	hsa-miR-1305	CLIP-seq
MIRT1217850	hsa-miR-141	CLIP-seq
MIRT1217851	hsa-miR-15a	CLIP-seq
MIRT1217852	hsa-miR-15b	CLIP-seq
MIRT1217853	hsa-miR-16	CLIP-seq
MIRT1217854	hsa-miR-186	CLIP-seq
MIRT1217855	hsa-miR-1913	CLIP-seq
MIRT1217856	hsa-miR-192	CLIP-seq
MIRT1217857	hsa-miR-195	CLIP-seq
MIRT1217858	hsa-miR-200a	CLIP-seq
MIRT1217859	hsa-miR-215	CLIP-seq
MIRT1217860	hsa-miR-216b	CLIP-seq
MIRT1217861	hsa-miR-3065-5p	CLIP-seq
MIRT1217862	hsa-miR-3133	CLIP-seq
MIRT1217863	hsa-miR-3148	CLIP-seq
MIRT1217864	hsa-miR-3150a-3p	CLIP-seq
MIRT1217865	hsa-miR-3154	CLIP-seq
MIRT1217866	hsa-miR-3175	CLIP-seq
MIRT1217867	hsa-miR-3179	CLIP-seq
MIRT1217868	hsa-miR-324-3p	CLIP-seq
MIRT1217869	hsa-miR-34b	CLIP-seq
MIRT1217870	hsa-miR-3613-3p	CLIP-seq
MIRT1217871	hsa-miR-3646	CLIP-seq
MIRT1217872	hsa-miR-3662	CLIP-seq
MIRT1217873	hsa-miR-3667-5p	CLIP-seq
MIRT1217874	hsa-miR-3672	CLIP-seq
MIRT1217875	hsa-miR-3972	CLIP-seq
MIRT1217876	hsa-miR-424	CLIP-seq
MIRT1217877	hsa-miR-4423-5p	CLIP-seq
MIRT1217878	hsa-miR-4668-5p	CLIP-seq
MIRT1217879	hsa-miR-4705	CLIP-seq
MIRT1217880	hsa-miR-4707-3p	CLIP-seq
MIRT1217881	hsa-miR-4716-3p	CLIP-seq
MIRT1217882	hsa-miR-4720-5p	CLIP-seq
MIRT1217883	hsa-miR-4755-3p	CLIP-seq
MIRT1217884	hsa-miR-4797-5p	CLIP-seq
MIRT1217885	hsa-miR-4799-3p	CLIP-seq
MIRT1217886	hsa-miR-497	CLIP-seq
MIRT1217887	hsa-miR-539	CLIP-seq
MIRT1217888	hsa-miR-607	CLIP-seq
MIRT1217889	hsa-miR-625	CLIP-seq
MIRT1217890	hsa-miR-720	CLIP-seq
MIRT1217891	hsa-miR-939	CLIP-seq
MIRT1217847	hsa-miR-1202	CLIP-seq
MIRT2062974	hsa-miR-122	CLIP-seq
MIRT2062975	hsa-miR-1234	CLIP-seq
MIRT2062976	hsa-miR-1307	CLIP-seq
MIRT2062977	hsa-miR-150	CLIP-seq
MIRT1217851	hsa-miR-15a	CLIP-seq
MIRT1217852	hsa-miR-15b	CLIP-seq
MIRT1217853	hsa-miR-16	CLIP-seq
MIRT2062978	hsa-miR-18a	CLIP-seq
MIRT2062979	hsa-miR-18b	CLIP-seq
MIRT2062980	hsa-miR-1911	CLIP-seq
MIRT1217857	hsa-miR-195	CLIP-seq
MIRT2062981	hsa-miR-3135b	CLIP-seq
MIRT2062982	hsa-miR-3622b-5p	CLIP-seq
MIRT2062983	hsa-miR-3652	CLIP-seq
MIRT2062984	hsa-miR-3671	CLIP-seq
MIRT1217875	hsa-miR-3972	CLIP-seq
MIRT1217876	hsa-miR-424	CLIP-seq
MIRT2062985	hsa-miR-4284	CLIP-seq
MIRT2062986	hsa-miR-4307	CLIP-seq
MIRT2062987	hsa-miR-4328	CLIP-seq
MIRT1217877	hsa-miR-4423-5p	CLIP-seq
MIRT2062988	hsa-miR-4430	CLIP-seq
MIRT2062989	hsa-miR-4502	CLIP-seq
MIRT2062990	hsa-miR-4520a-3p	CLIP-seq
MIRT2062991	hsa-miR-4638-5p	CLIP-seq
MIRT2062992	hsa-miR-4695-3p	CLIP-seq
MIRT2062993	hsa-miR-4700-3p	CLIP-seq
MIRT2062994	hsa-miR-4731-5p	CLIP-seq
MIRT2062995	hsa-miR-4735-3p	CLIP-seq
MIRT1217883	hsa-miR-4755-3p	CLIP-seq
MIRT2062996	hsa-miR-4761-5p	CLIP-seq
MIRT2062997	hsa-miR-4762-3p	CLIP-seq
MIRT2062998	hsa-miR-4762-5p	CLIP-seq
MIRT2062999	hsa-miR-4772-3p	CLIP-seq
MIRT1217886	hsa-miR-497	CLIP-seq
MIRT2063000	hsa-miR-5095	CLIP-seq
MIRT2291401	hsa-miR-101	CLIP-seq
MIRT1217847	hsa-miR-1202	CLIP-seq
MIRT2062974	hsa-miR-122	CLIP-seq
MIRT2062975	hsa-miR-1234	CLIP-seq
MIRT1217848	hsa-miR-1267	CLIP-seq
MIRT2062976	hsa-miR-1307	CLIP-seq
MIRT2291402	hsa-miR-144	CLIP-seq
MIRT2062977	hsa-miR-150	CLIP-seq
MIRT2062978	hsa-miR-18a	CLIP-seq
MIRT2062979	hsa-miR-18b	CLIP-seq
MIRT1217855	hsa-miR-1913	CLIP-seq
MIRT2291403	hsa-miR-28-3p	CLIP-seq
MIRT2062981	hsa-miR-3135b	CLIP-seq
MIRT2291404	hsa-miR-3155	CLIP-seq
MIRT2291405	hsa-miR-3155b	CLIP-seq
MIRT1217868	hsa-miR-324-3p	CLIP-seq
MIRT2062982	hsa-miR-3622b-5p	CLIP-seq
MIRT2062983	hsa-miR-3652	CLIP-seq
MIRT2291406	hsa-miR-3942-5p	CLIP-seq
MIRT1217875	hsa-miR-3972	CLIP-seq
MIRT2062985	hsa-miR-4284	CLIP-seq
MIRT1217877	hsa-miR-4423-5p	CLIP-seq
MIRT2062988	hsa-miR-4430	CLIP-seq
MIRT2291407	hsa-miR-4433	CLIP-seq
MIRT2291408	hsa-miR-4532	CLIP-seq
MIRT2062991	hsa-miR-4638-5p	CLIP-seq
MIRT2062992	hsa-miR-4695-3p	CLIP-seq
MIRT2062993	hsa-miR-4700-3p	CLIP-seq
MIRT2291409	hsa-miR-4703-5p	CLIP-seq
MIRT1217880	hsa-miR-4707-3p	CLIP-seq
MIRT2291410	hsa-miR-4714-3p	CLIP-seq
MIRT2062994	hsa-miR-4731-5p	CLIP-seq
MIRT2062995	hsa-miR-4735-3p	CLIP-seq
MIRT1217883	hsa-miR-4755-3p	CLIP-seq
MIRT2062996	hsa-miR-4761-5p	CLIP-seq
MIRT2062999	hsa-miR-4772-3p	CLIP-seq
MIRT2291411	hsa-miR-484	CLIP-seq
MIRT2063000	hsa-miR-5095	CLIP-seq
MIRT1217890	hsa-miR-720	CLIP-seq
MIRT2062975	hsa-miR-1234	CLIP-seq
MIRT2062977	hsa-miR-150	CLIP-seq
MIRT2062978	hsa-miR-18a	CLIP-seq
MIRT2062979	hsa-miR-18b	CLIP-seq
MIRT2062994	hsa-miR-4731-5p	CLIP-seq
MIRT2062995	hsa-miR-4735-3p	CLIP-seq
MIRT2062996	hsa-miR-4761-5p	CLIP-seq
MIRT1217847	hsa-miR-1202	CLIP-seq
MIRT2062974	hsa-miR-122	CLIP-seq
MIRT1217848	hsa-miR-1267	CLIP-seq
MIRT2062981	hsa-miR-3135b	CLIP-seq
MIRT2062982	hsa-miR-3622b-5p	CLIP-seq
MIRT2062983	hsa-miR-3652	CLIP-seq
MIRT1217875	hsa-miR-3972	CLIP-seq
MIRT1217877	hsa-miR-4423-5p	CLIP-seq
MIRT2062988	hsa-miR-4430	CLIP-seq
MIRT1217883	hsa-miR-4755-3p	CLIP-seq
MIRT1217884	hsa-miR-4797-5p	CLIP-seq
MIRT1217890	hsa-miR-720	CLIP-seq
MIRT1217847	hsa-miR-1202	CLIP-seq
MIRT2062974	hsa-miR-122	CLIP-seq
MIRT1217848	hsa-miR-1267	CLIP-seq
MIRT2062981	hsa-miR-3135b	CLIP-seq
MIRT2062983	hsa-miR-3652	CLIP-seq
MIRT1217875	hsa-miR-3972	CLIP-seq
MIRT1217877	hsa-miR-4423-5p	CLIP-seq
MIRT2062988	hsa-miR-4430	CLIP-seq
MIRT1217883	hsa-miR-4755-3p	CLIP-seq
MIRT1217884	hsa-miR-4797-5p	CLIP-seq
MIRT1217890	hsa-miR-720	CLIP-seq
MIRT1217846	hsa-miR-1193	CLIP-seq
MIRT1217847	hsa-miR-1202	CLIP-seq
MIRT2062974	hsa-miR-122	CLIP-seq
MIRT2588889	hsa-miR-1256	CLIP-seq
MIRT1217848	hsa-miR-1267	CLIP-seq
MIRT2588890	hsa-miR-127-5p	CLIP-seq
MIRT2062976	hsa-miR-1307	CLIP-seq
MIRT2062977	hsa-miR-150	CLIP-seq
MIRT2588891	hsa-miR-193a-3p	CLIP-seq
MIRT2588892	hsa-miR-193b	CLIP-seq
MIRT2588893	hsa-miR-1976	CLIP-seq
MIRT2062981	hsa-miR-3135b	CLIP-seq
MIRT2588894	hsa-miR-3136-5p	CLIP-seq
MIRT2291404	hsa-miR-3155	CLIP-seq
MIRT2291405	hsa-miR-3155b	CLIP-seq
MIRT2588895	hsa-miR-3163	CLIP-seq
MIRT2588896	hsa-miR-3176	CLIP-seq
MIRT2062982	hsa-miR-3622b-5p	CLIP-seq
MIRT2062983	hsa-miR-3652	CLIP-seq
MIRT2588897	hsa-miR-3921	CLIP-seq
MIRT2588898	hsa-miR-3922-3p	CLIP-seq
MIRT1217875	hsa-miR-3972	CLIP-seq
MIRT2588899	hsa-miR-410	CLIP-seq
MIRT2588900	hsa-miR-4259	CLIP-seq
MIRT2588901	hsa-miR-4279	CLIP-seq
MIRT2062985	hsa-miR-4284	CLIP-seq
MIRT2588902	hsa-miR-4289	CLIP-seq
MIRT2588903	hsa-miR-4303	CLIP-seq
MIRT1217877	hsa-miR-4423-5p	CLIP-seq
MIRT2062988	hsa-miR-4430	CLIP-seq
MIRT2588904	hsa-miR-4439	CLIP-seq
MIRT2588905	hsa-miR-4463	CLIP-seq
MIRT2588906	hsa-miR-4468	CLIP-seq
MIRT2291408	hsa-miR-4532	CLIP-seq
MIRT2062991	hsa-miR-4638-5p	CLIP-seq
MIRT2588907	hsa-miR-4653-5p	CLIP-seq
MIRT2062992	hsa-miR-4695-3p	CLIP-seq
MIRT2588908	hsa-miR-4713-5p	CLIP-seq
MIRT2588909	hsa-miR-4715-3p	CLIP-seq
MIRT2588910	hsa-miR-4715-5p	CLIP-seq
MIRT2588911	hsa-miR-4718	CLIP-seq
MIRT2588912	hsa-miR-4722-3p	CLIP-seq
MIRT2588913	hsa-miR-4735-5p	CLIP-seq
MIRT1217883	hsa-miR-4755-3p	CLIP-seq
MIRT2062999	hsa-miR-4772-3p	CLIP-seq
MIRT2588914	hsa-miR-4775	CLIP-seq
MIRT2588915	hsa-miR-4786-3p	CLIP-seq
MIRT1217884	hsa-miR-4797-5p	CLIP-seq
MIRT2291411	hsa-miR-484	CLIP-seq
MIRT2588916	hsa-miR-532-3p	CLIP-seq
MIRT2588917	hsa-miR-561	CLIP-seq
MIRT2588918	hsa-miR-590-3p	CLIP-seq
MIRT2588919	hsa-miR-618	CLIP-seq
MIRT2588920	hsa-miR-653	CLIP-seq
MIRT2588921	hsa-miR-7	CLIP-seq
MIRT1217890	hsa-miR-720	CLIP-seq
MIRT2588922	hsa-miR-942	CLIP-seq
MIRT2588923	hsa-miR-943	CLIP-seq
MIRT1217846	hsa-miR-1193	CLIP-seq
MIRT1217847	hsa-miR-1202	CLIP-seq
MIRT2062974	hsa-miR-122	CLIP-seq
MIRT2588889	hsa-miR-1256	CLIP-seq
MIRT1217848	hsa-miR-1267	CLIP-seq
MIRT2062976	hsa-miR-1307	CLIP-seq
MIRT2062977	hsa-miR-150	CLIP-seq
MIRT2588891	hsa-miR-193a-3p	CLIP-seq
MIRT2588892	hsa-miR-193b	CLIP-seq
MIRT2588893	hsa-miR-1976	CLIP-seq
MIRT2062981	hsa-miR-3135b	CLIP-seq
MIRT2291404	hsa-miR-3155	CLIP-seq
MIRT2291405	hsa-miR-3155b	CLIP-seq
MIRT2588895	hsa-miR-3163	CLIP-seq
MIRT2588896	hsa-miR-3176	CLIP-seq
MIRT2062982	hsa-miR-3622b-5p	CLIP-seq
MIRT2062983	hsa-miR-3652	CLIP-seq
MIRT2588897	hsa-miR-3921	CLIP-seq
MIRT2588898	hsa-miR-3922-3p	CLIP-seq
MIRT1217875	hsa-miR-3972	CLIP-seq
MIRT2588899	hsa-miR-410	CLIP-seq
MIRT2687256	hsa-miR-411	CLIP-seq
MIRT2588900	hsa-miR-4259	CLIP-seq
MIRT2588901	hsa-miR-4279	CLIP-seq
MIRT2062985	hsa-miR-4284	CLIP-seq
MIRT2588903	hsa-miR-4303	CLIP-seq
MIRT1217877	hsa-miR-4423-5p	CLIP-seq
MIRT2062988	hsa-miR-4430	CLIP-seq
MIRT2588905	hsa-miR-4463	CLIP-seq
MIRT2588906	hsa-miR-4468	CLIP-seq
MIRT2291408	hsa-miR-4532	CLIP-seq
MIRT2062991	hsa-miR-4638-5p	CLIP-seq
MIRT2588907	hsa-miR-4653-5p	CLIP-seq
MIRT2062992	hsa-miR-4695-3p	CLIP-seq
MIRT2588908	hsa-miR-4713-5p	CLIP-seq
MIRT2588909	hsa-miR-4715-3p	CLIP-seq
MIRT2588910	hsa-miR-4715-5p	CLIP-seq
MIRT2588912	hsa-miR-4722-3p	CLIP-seq
MIRT2588913	hsa-miR-4735-5p	CLIP-seq
MIRT1217883	hsa-miR-4755-3p	CLIP-seq
MIRT2062999	hsa-miR-4772-3p	CLIP-seq
MIRT2588914	hsa-miR-4775	CLIP-seq
MIRT1217884	hsa-miR-4797-5p	CLIP-seq
MIRT2291411	hsa-miR-484	CLIP-seq
MIRT2588916	hsa-miR-532-3p	CLIP-seq
MIRT2588917	hsa-miR-561	CLIP-seq
MIRT2588918	hsa-miR-590-3p	CLIP-seq
MIRT2588919	hsa-miR-618	CLIP-seq
MIRT2588921	hsa-miR-7	CLIP-seq
MIRT1217890	hsa-miR-720	CLIP-seq
MIRT2588922	hsa-miR-942	CLIP-seq

Show/Hide all (65)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000242	Component	Pericentriolar material	IEA
GO:0000242	Component	Pericentriolar material	ISS
GO:0000242	Component	Pericentriolar material	TAS	8120099
GO:0001764	Process	Neuron migration	IEA
GO:0005515	Function	Protein binding	IPI	9361024, 14520415, 15107855, 15161933, 16189514, 17574030, 18000879, 18762586, 18772192, 19081074, 19447967, 20719959, 22500027, 24089205, 24397932, 24550735, 24816561, 25074808, 25416956, 26297806, 26496610, 26638075, 27107012, 28235840, 28712572, 29892012, 31515488, 32296183, 3396
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0005737	Component	Cytoplasm	TAS	8120099
GO:0005813	Component	Centrosome	IDA	24648492
GO:0005813	Component	Centrosome	IDA	20719959, 21399614, 22797915, 24421332, 24550735
GO:0005813	Component	Centrosome	IEA
GO:0005813	Component	Centrosome	IEA
GO:0005813	Component	Centrosome	ISS
GO:0005813	Component	Centrosome	TAS	8120099
GO:0005814	Component	Centriole	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005929	Component	Cilium	IDA
GO:0007098	Process	Centrosome cycle	IMP	17574030
GO:0015630	Component	Microtubule cytoskeleton	IDA
GO:0016020	Component	Membrane	HDA	19946888
GO:0022027	Process	Interkinetic nuclear migration	IEA
GO:0022027	Process	Interkinetic nuclear migration	ISS
GO:0030030	Process	Cell projection organization	IEA
GO:0031122	Process	Cytoplasmic microtubule organization	IMP	24816561
GO:0031122	Process	Cytoplasmic microtubule organization	IMP	22797915
GO:0031965	Component	Nuclear membrane	IDA
GO:0032991	Component	Protein-containing complex	IDA	24421332
GO:0033365	Process	Protein localization to organelle	IEA
GO:0034451	Component	Centriolar satellite	IBA
GO:0034451	Component	Centriolar satellite	IDA	34782749
GO:0034451	Component	Centriolar satellite	IDA	15616553, 17574030, 20719959, 24550735, 32946374
GO:0034451	Component	Centriolar satellite	IEA
GO:0034453	Process	Microtubule anchoring	IEA
GO:0034453	Process	Microtubule anchoring	ISS
GO:0034454	Process	Microtubule anchoring at centrosome	IBA
GO:0034454	Process	Microtubule anchoring at centrosome	IEA
GO:0034454	Process	Microtubule anchoring at centrosome	IEA
GO:0035176	Process	Social behavior	IEA
GO:0035735	Process	Intraciliary transport involved in cilium assembly	IMP	24550735
GO:0035869	Component	Ciliary transition zone	IDA	24415959
GO:0036064	Component	Ciliary basal body	IBA
GO:0036064	Component	Ciliary basal body	IDA
GO:0036064	Component	Ciliary basal body	IEA
GO:0042802	Function	Identical protein binding	ISS
GO:0042995	Component	Cell projection	IEA
GO:0045177	Component	Apical part of cell	IEA
GO:0050768	Process	Negative regulation of neurogenesis	IEA
GO:0050768	Process	Negative regulation of neurogenesis	ISS
GO:0060090	Function	Molecular adaptor activity	IDA	34782749
GO:0060271	Process	Cilium assembly	IEA
GO:0060271	Process	Cilium assembly	IMP	15616553, 17574030
GO:0061635	Process	Regulation of protein complex stability	IDA	34782749
GO:0071539	Process	Protein localization to centrosome	IBA
GO:0071539	Process	Protein localization to centrosome	IEA
GO:0071539	Process	Protein localization to centrosome	IMP	24816561
GO:0071539	Process	Protein localization to centrosome	ISS
GO:0090316	Process	Positive regulation of intracellular protein transport	IMP	22797915, 24550735
GO:0097150	Process	Neuronal stem cell population maintenance	IEA
GO:0097730	Component	Non-motile cilium	IDA	17574030
GO:0140706	Process	Protein-containing complex localization to centriolar satellite	IDA	34782749
GO:1905515	Process	Non-motile cilium assembly	IBA
GO:1905515	Process	Non-motile cilium assembly	IMP	23789104

MIM	HGNC	e!Ensembl
600299	8727	ENSG00000078674

Q15154

Protein name

Pericentriolar material 1 protein (PCM-1) (hPCM-1)

Protein function

Required for centrosome assembly and function (PubMed:12403812, PubMed:15659651, PubMed:16943179). Essential for the correct localization of several centrosomal proteins including CEP250, CETN3, PCNT and NEK2 (PubMed:12403812, PubMed:15659651).

PDB

6HYL , 6HYM , 7Q46

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF15717	PCM1_C	1372 → 1998	Pericentriolar material 1 C terminus	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in blood, bone marrow, breast, lymph node, ovary and thyroid. {ECO:0000269|PubMed:10980597, ECO:0000269|PubMed:15184884, ECO:0000269|PubMed:16270321, ECO:0000269|PubMed:16424865}.

Sequence

MATGGGPFEDGMNDQDLPNWSNENVDDRLNNMDWGAQQKKANRSSEKNKKKFGVESDKRV
TNDISPESSPGVGRRRTKTPHTFPHSRYMSQMSVPEQAELEKLKQRINFSDLDQRSIGSD
SQGRATAANNKRQLSENRKPFNFLPMQINTNKSKDASTNPPNRETIGSAQCKELFASALS
NDLLQNCQVSEEDGRGEPAMESSQIVSRLVQIRDYITKASSMREDLVEKNERSANVERLT
HLIDHLKEQEKSYMKFLKKILARDPQQEPMEEIENLKKQHDLLKRMLQQQEQLRALQGRQ
AALLALQHKAEQAIAVMDDSVVAETAGSLSGVSITSELNEELNDLIQRFHNQLRDSQPPA
VPDNRRQAESLSLTREVSQSRKPSASERLPDEKVELFSKMRVLQEKKQKMDKLLGELHTL
RDQHLNNSSASPQRSVDQRSTSAPSASVGLAPVVNGESNSLTSSVPYPTASLVSQNESEN
EGHLNPSEKLQKLNEVRKRLNELRELVHYYEQTSDMMTDAVNENRKDEETEESEYDSEHE
NSEPVTNIRNPQVASTWNEVNSHSNAQCVSNNRDGRTVNSNCEINNRSAANIRALNMPPS
LDCRYNREGEQEIHVAQGEDDEEEEEEAEEEGVSGASLSSHRSSLVDEHPEDAEFEQKIN
RLMAAKQKLRQLQDLVAMVQDDDAAQGVISASASNLDDFYPAEEDTKQNSNNTRGNANKT
QKDTGVNEKAREKFYEAKLQQQQRELKQLQEERKKLIDIQEKIQALQTACPDLQLSAASV
GNCPTKKYMPAVTSTPTVNQHETSTSKSVFEPEDSSIVDNELWSEMRRHEMLREELRQRR
KQLEALMAEHQRRQGLAETASPVAVSLRSDGSENLCTPQQSRTEKTMATWGGSTQCALDE
EGDEDGYLSEGIVRTDEEEEEEQDASSNDNFSVCPSNSVNHNSYNGKETKNRWKNNCPFS
ADENYRPLAKTRQQNISMQRQENLRWVSELSYVEEKEQWQEQINQLKKQLDFSVSICQTL
MQDQQTLSCLLQTLLTGPYSVMPSNVASPQVHFIMHQLNQCYTQLTWQQNNVQRLKQMLN
ELMRQQNQHPEKPGGKERGSSASHPPSPSLFCPFSFPTQPVNLFNIPGFTNFSSFAPGMN
FSPLFPSNFGDFSQNISTPSEQQQPLAQNSSGKTEYMAFPKPFESSSSIGAEKPRNKKLP
EEEVESSRTPWLYEQEGEVEKPFIKTGFSVSVEKSTSSNRKNQLDTNGRRRQFDEESLES
FSSMPDPVDPTTVTKTFKTRKASAQASLASKDKTPKSKSKKRNSTQLKSRVKNIRYESAS
MSSTCEPCKSRNRHSAQTEEPVQAKVFSRKNHEQLEKIIKCNRSTEISSETGSDFSMFEA
LRDTIYSEVATLISQNESRPHFLIELFHELQLLNTDYLRQRALYALQDIVSRHISESHEK
GENVKSVNSGTWIASNSELTPSESLATTDDETFEKNFERETHKISEQNDADNASVLSVSS
NFEPFATDDLGNTVIHLDQALARMREYERMKTEAESNSNMRCTCRIIEDGDGAGAGTTVN
NLEETPVIENRSSQQPVSEVSTIPCPRIDTQQLDRQIKAIMKEVIPFLKEHMDEVCSSQL
LTSVRRMVLTLTQQNDESKEFVKFFHKQLGSILQDSLAKFAGRKLKDCGEDLLVEISEVL
FNELAFFKLMQDLDNNSITVKQRCKRKIEATGVIQSCAKEAKRILEDHGSPAGEIDDEDK
DKDETETVKQTQTSEVYDGPKNVRSDISDQEEDEESEGCPVSINLSKAETQALTNYGSGE
DENEDEEMEEFEEGPVDVQTSLQANTEATEENEHDEQVLQRDFKKTAESKNVPLEREATS
KNDQNNCPVKPCYLNILEDEQPLNSAAHKESPPTVDSTQQPNPLPLRLPEMEPLVPRVKE
VKSAQETPESSLAGSPDTESPVLVNDYEAESGNISQKSDEEDFVKVEDLPLKLTIYSEAD
LRKKMVEEEQKNHLSGEICEMQTEELAGNSETLKEPETVGAQSI

Sequence length

2024

Interactions

View interactions

	Reactome
			Regulation of PLK1 Activity at G2/M Transition Loss of Nlp from mitotic centrosomes Recruitment of mitotic centrosome proteins and complexes Loss of proteins required for interphase microtubule organization from the centrosome Recruitment of NuMA to mitotic centrosomes Anchoring of the basal body to the plasma membrane AURKA Activation by TPX2

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 (18)

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.
ATRIAL FIBRILLATION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FLUTTER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIAC ARRHYTHMIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIFFERENTIATED THYROID CARCINOMA	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL SQUAMOUS CELL CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Uncertain significance; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PCM1-related disorder	Uncertain significance; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (51)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acute leukemia	Leukemia	BEFREE	16007127		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bardet-Biedl Syndrome	Bardet-Biedl Syndrome	BEFREE	15107855		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	22968929	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	15184884		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	16270321, 24909162		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic eosinophilic leukemia	Eosinophilic Leukemia	BEFREE	23372669		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic myeloproliferative disorder	Myeloproliferative disorder	BEFREE	28028030, 30401948		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	GWASCAT_DG	26503814		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathies	BEFREE	22767577		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	22968929	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Differentiated thyroid carcinoma	Thyroid Carcinoma	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Down Syndrome	Down syndrome	Pubtator	35476505	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Eosinophilia	Eosinophilia	BEFREE	23400675		★★★★★ ★☆☆☆☆ Found in Text Mining only
Eosinophilia	Eosinophilia	Pubtator	33990705, 34533850	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	15805263, 18594780, 21091042, 23400675		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic neoplasm	Pubtator	15805263, 30401948	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematopoietic Neoplasms	Hematopoietic Neoplasms	BEFREE	29025601, 30401948		★★★★★ ★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	21985783		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	BEFREE	21985783		★★★★★ ★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	28028030		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative	Myeloid Leukemia	BEFREE	16091753		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative	Myeloid Leukemia	LHGDN	16091753		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	28028030		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	30401948, 34533850	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma, T-Cell, Cutaneous	Lymphoma	BEFREE	23372669		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development Group II	Cortical development malformation	Pubtator	18762586	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development, Group II	Malformation of cortical development	BEFREE	18762586		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	16270321, 24909162		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	26339430		★★★★★ ★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	28028030		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	16007127		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	BEFREE	28028030		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	21091042, 24913195, 25260694, 29025601, 30401948		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	40090437	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Carcinoma	Ovarian Carcinoma	BEFREE	16270321		★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	24909162		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	16270321, 24909162, 33741265	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	10980597		★★★★★ ★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	ORPHANET_DG	10980597		★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor B-cell lymphoblastic leukemia	Lymphoblastic Leukemia	BEFREE	23473611		★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor B-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	23473611		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	16894060, 18762586, 19048012, 20360304, 20468070, 21195721, 21481569, 31260570		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	LHGDN	16894060, 18762586		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	16894060, 18762586	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	CTD_human_DG	19048012		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scleroderma	Scleroderma	BEFREE	9540072		★★★★★ ★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	9540072		★★★★★ ★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of fallot	Pubtator	30582441	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	9528832	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	10980597		★★★★★ ★☆☆☆☆ Found in Text Mining only
Toxic Epidermal Necrolysis	Stevens-Johnson Syndrome	BEFREE	30401948		★★★★★ ★☆☆☆☆ Found in Text Mining only

PCM1 (pericentriolar material 1)