NUMA1 (nuclear mitotic apparatus protein 1)

Gene

• Entrez ID: 4926
• Gene name: Nuclear mitotic apparatus protein 1
• Gene symbol: NUMA1
• Synonyms (NCBI Gene): NMP-22, NUMA
• Chromosome: 11
• Chromosome location: 11q13.4
• Summary: This gene encodes a large protein that forms a structural component of the nuclear matrix. The encoded protein interacts with microtubules and plays a role in the formation and organization of the mitotic spindle during cell division. Chromosomal transloc

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018163	hsa-miR-335-5p	Microarray	18185580
MIRT1198799	hsa-miR-124	CLIP-seq
MIRT1198800	hsa-miR-1251	CLIP-seq
MIRT1198801	hsa-miR-1323	CLIP-seq
MIRT1198802	hsa-miR-3121-3p	CLIP-seq
MIRT1198803	hsa-miR-3126-5p	CLIP-seq
MIRT1198804	hsa-miR-3134	CLIP-seq
MIRT1198805	hsa-miR-3143	CLIP-seq
MIRT1198806	hsa-miR-3160-3p	CLIP-seq
MIRT1198807	hsa-miR-3164	CLIP-seq
MIRT1198808	hsa-miR-3192	CLIP-seq
MIRT1198809	hsa-miR-323b-5p	CLIP-seq
MIRT1198810	hsa-miR-4300	CLIP-seq
MIRT1198811	hsa-miR-4434	CLIP-seq
MIRT1198812	hsa-miR-4516	CLIP-seq
MIRT1198813	hsa-miR-452	CLIP-seq
MIRT1198814	hsa-miR-4531	CLIP-seq
MIRT1198815	hsa-miR-4534	CLIP-seq
MIRT1198816	hsa-miR-4645-3p	CLIP-seq
MIRT1198817	hsa-miR-4676-3p	CLIP-seq
MIRT1198818	hsa-miR-4699-3p	CLIP-seq
MIRT1198819	hsa-miR-4707-5p	CLIP-seq
MIRT1198820	hsa-miR-4762-5p	CLIP-seq
MIRT1198821	hsa-miR-506	CLIP-seq
MIRT1198822	hsa-miR-543	CLIP-seq
MIRT1198823	hsa-miR-548aa	CLIP-seq
MIRT1198824	hsa-miR-548o	CLIP-seq
MIRT1198825	hsa-miR-593	CLIP-seq
MIRT1198826	hsa-miR-658	CLIP-seq
MIRT1198827	hsa-miR-661	CLIP-seq
MIRT1198828	hsa-miR-920	CLIP-seq
MIRT1198829	hsa-miR-938	CLIP-seq
MIRT2057610	hsa-miR-1252	CLIP-seq
MIRT2057611	hsa-miR-1276	CLIP-seq
MIRT2057612	hsa-miR-1343	CLIP-seq
MIRT2057613	hsa-miR-3153	CLIP-seq
MIRT1198806	hsa-miR-3160-3p	CLIP-seq
MIRT2057614	hsa-miR-335	CLIP-seq
MIRT2057615	hsa-miR-361-3p	CLIP-seq
MIRT2057616	hsa-miR-4455	CLIP-seq
MIRT2057617	hsa-miR-4487	CLIP-seq
MIRT2057618	hsa-miR-4493	CLIP-seq
MIRT2057619	hsa-miR-4646-5p	CLIP-seq
MIRT2057620	hsa-miR-4668-5p	CLIP-seq
MIRT2057621	hsa-miR-4800-3p	CLIP-seq
MIRT2057622	hsa-miR-524-3p	CLIP-seq
MIRT2057623	hsa-miR-525-3p	CLIP-seq
MIRT2057624	hsa-miR-558	CLIP-seq
MIRT2057625	hsa-miR-675	CLIP-seq
MIRT1198801	hsa-miR-1323	CLIP-seq
MIRT2285996	hsa-miR-3136-3p	CLIP-seq
MIRT1198806	hsa-miR-3160-3p	CLIP-seq
MIRT1198808	hsa-miR-3192	CLIP-seq
MIRT2057615	hsa-miR-361-3p	CLIP-seq
MIRT2285997	hsa-miR-4286	CLIP-seq
MIRT1198810	hsa-miR-4300	CLIP-seq
MIRT1198813	hsa-miR-452	CLIP-seq
MIRT1198817	hsa-miR-4676-3p	CLIP-seq
MIRT2285998	hsa-miR-483-3p	CLIP-seq
MIRT1198823	hsa-miR-548aa	CLIP-seq
MIRT1198824	hsa-miR-548o	CLIP-seq
MIRT1198827	hsa-miR-661	CLIP-seq
MIRT2285999	hsa-miR-711	CLIP-seq
MIRT1198828	hsa-miR-920	CLIP-seq
MIRT1198806	hsa-miR-3160-3p	CLIP-seq
MIRT1198808	hsa-miR-3192	CLIP-seq
MIRT1198810	hsa-miR-4300	CLIP-seq
MIRT1198813	hsa-miR-452	CLIP-seq
MIRT1198817	hsa-miR-4676-3p	CLIP-seq
MIRT1198827	hsa-miR-661	CLIP-seq
MIRT1198828	hsa-miR-920	CLIP-seq
MIRT1198800	hsa-miR-1251	CLIP-seq
MIRT1198804	hsa-miR-3134	CLIP-seq
MIRT1198806	hsa-miR-3160-3p	CLIP-seq
MIRT1198808	hsa-miR-3192	CLIP-seq
MIRT1198809	hsa-miR-323b-5p	CLIP-seq
MIRT1198810	hsa-miR-4300	CLIP-seq
MIRT1198811	hsa-miR-4434	CLIP-seq
MIRT1198812	hsa-miR-4516	CLIP-seq
MIRT1198813	hsa-miR-452	CLIP-seq
MIRT1198814	hsa-miR-4531	CLIP-seq
MIRT1198815	hsa-miR-4534	CLIP-seq
MIRT1198817	hsa-miR-4676-3p	CLIP-seq
MIRT1198820	hsa-miR-4762-5p	CLIP-seq
MIRT1198825	hsa-miR-593	CLIP-seq
MIRT1198827	hsa-miR-661	CLIP-seq
MIRT1198828	hsa-miR-920	CLIP-seq
MIRT1198800	hsa-miR-1251	CLIP-seq
MIRT1198806	hsa-miR-3160-3p	CLIP-seq
MIRT1198808	hsa-miR-3192	CLIP-seq
MIRT1198810	hsa-miR-4300	CLIP-seq
MIRT1198813	hsa-miR-452	CLIP-seq
MIRT1198817	hsa-miR-4676-3p	CLIP-seq
MIRT1198825	hsa-miR-593	CLIP-seq
MIRT1198827	hsa-miR-661	CLIP-seq
MIRT1198828	hsa-miR-920	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000132	Process	Establishment of mitotic spindle orientation	IBA	21873635
GO:0000132	Process	Establishment of mitotic spindle orientation	IDA	21816348
GO:0000132	Process	Establishment of mitotic spindle orientation	IMP	24996901, 26765568
GO:0000132	Process	Establishment of mitotic spindle orientation	ISS
GO:0000139	Component	Golgi membrane	IEA
GO:0000922	Component	Spindle pole	IBA	21873635
GO:0000922	Component	Spindle pole	IDA	14718566, 18331714, 23921553
GO:0001578	Process	Microtubule bundle formation	IMP	12445386
GO:0005198	Function	Structural molecule activity	TAS	1541630
GO:0005515	Function	Protein binding	IPI	11590136, 11781568, 12080061, 12445386, 15537540, 16076287, 17172455, 20109190, 21044950, 21816348, 22327364, 23870127, 24996901, 25416956, 26195665, 27462074
GO:0005634	Component	Nucleus	IDA	1541636, 23921553, 27462074
GO:0005654	Component	Nucleoplasm	IDA	10811826
GO:0005654	Component	Nucleoplasm	TAS
GO:0005694	Component	Chromosome	IEA
GO:0005813	Component	Centrosome	IBA	21873635
GO:0005813	Component	Centrosome	IDA	25657325, 26562023, 26765568
GO:0005819	Component	Spindle	TAS	7004645
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0005876	Component	Spindle microtubule	IBA	21873635
GO:0005876	Component	Spindle microtubule	IDA	1541636
GO:0005938	Component	Cell cortex	IDA	23783028
GO:0006997	Process	Nucleus organization	TAS	1541630
GO:0007059	Process	Chromosome segregation	IEA
GO:0008017	Function	Microtubule binding	IBA	21873635
GO:0008017	Function	Microtubule binding	IDA	11956313, 12445386, 27462074
GO:0008022	Function	Protein C-terminus binding	IMP	20109190
GO:0015631	Function	Tubulin binding	IDA	11956313
GO:0016328	Component	Lateral plasma membrane	IEA
GO:0016363	Component	Nuclear matrix	IDA	7962183, 11956313
GO:0019897	Component	Extrinsic component of plasma membrane	IDA	24371089, 24996901
GO:0019904	Function	Protein domain specific binding	IPI	22074847
GO:0030425	Component	Dendrite	IEA
GO:0030513	Process	Positive regulation of BMP signaling pathway	ISS
GO:0030953	Process	Astral microtubule organization	IDA	12445386
GO:0030953	Process	Astral microtubule organization	IMP	12445386
GO:0031116	Process	Positive regulation of microtubule polymerization	IMP	12445386
GO:0031616	Component	Spindle pole centrosome	IDA	10811826
GO:0032388	Process	Positive regulation of intracellular transport	IMP	27462074
GO:0032991	Component	Protein-containing complex	IDA	22074847
GO:0032991	Component	Protein-containing complex	IMP	20109190
GO:0035091	Function	Phosphatidylinositol binding	IDA	24371089, 24996901
GO:0035371	Component	Microtubule plus-end	IDA	26765568
GO:0036449	Component	Microtubule minus-end	IDA	26765568
GO:0043025	Component	Neuronal cell body	IEA
GO:0044877	Function	Protein-containing complex binding	IDA	11590136
GO:0045618	Process	Positive regulation of keratinocyte differentiation	ISS
GO:0051010	Function	Microtubule plus-end binding	IDA	26765568
GO:0051011	Function	Microtubule minus-end binding	IDA	26765568
GO:0051301	Process	Cell division	IEA
GO:0051321	Process	Meiotic cell cycle	IEA
GO:0051798	Process	Positive regulation of hair follicle development	ISS
GO:0051984	Process	Positive regulation of chromosome segregation	IMP	24371089
GO:0055028	Component	Cortical microtubule	IDA	26765568
GO:0055048	Process	Anastral spindle assembly	IMP	25657325
GO:0060236	Process	Regulation of mitotic spindle organization	IDA	26195665
GO:0060236	Process	Regulation of mitotic spindle organization	IMP	11956313, 17172455, 23027904, 24371089
GO:0061673	Component	Mitotic spindle astral microtubule	IDA	1541636, 10811826, 12445386, 24996901, 26562023
GO:0070062	Component	Extracellular exosome	HDA	18570454
GO:0070840	Function	Dynein complex binding	IDA	10811826, 17172455, 22327364, 23027904, 26195665
GO:0072686	Component	Mitotic spindle	IDA	10811826, 26562023, 27462074
GO:0090235	Process	Regulation of metaphase plate congression	IMP	27462074
GO:0097427	Component	Microtubule bundle	IDA	11956313
GO:0097431	Component	Mitotic spindle pole	IDA	1541636, 7962183, 10811826, 11781568, 11956313, 16076287, 21816348, 22327364, 23783028, 23870127, 24371089, 24996901, 25657325, 26195665, 27462074
GO:0097431	Component	Mitotic spindle pole	IMP	17172455
GO:0097575	Component	Lateral cell cortex	ISS
GO:0097718	Function	Disordered domain specific binding	IMP	20109190
GO:0099738	Component	Cell cortex region	IDA	21816348, 22327364, 23870127, 23921553, 24371089, 24996901
GO:1902365	Process	Positive regulation of protein localization to spindle pole body	IDA	16076287
GO:1902846	Process	Positive regulation of mitotic spindle elongation	IMP	23921553
GO:1904778	Process	Positive regulation of protein localization to cell cortex	IMP	22327364, 23027904, 23870127, 23921553, 24371089, 24996901
GO:1905720	Component	Cytoplasmic microtubule bundle	IDA	12445386
GO:1905820	Process	Positive regulation of chromosome separation	IMP	23921553
GO:1905832	Process	Positive regulation of spindle assembly	IMP	27462074
GO:1990023	Component	Mitotic spindle midzone	IDA	10811826

Other IDs

• MIM: 164009
• HGNC: 8059
• e!Ensembl: ENSG00000137497

Protein

• UniProt ID: Q14980
• Protein name: Nuclear mitotic apparatus protein 1 (Nuclear matrix protein-22) (NMP-22) (Nuclear mitotic apparatus protein) (NuMA protein) (SP-H antigen)
• Protein function: Microtubule (MT)-binding protein that plays a role in the formation and maintenance of the spindle poles and the alignement and the segregation of chromosomes during mitotic cell division (PubMed:17172455, PubMed:19255246, PubMed:24996901, PubMe
• PDB: 3RO2, 5GXW, 6HC2, 6QJA
• Sequence:

  MTLHATRGAALLSWVNSLHVADPVEAVLQLQDCSIFIKIIDRIHGTEEGQQILKQPVSER
  LDFVCSFLQKNRKHPSSPECLVSAQKVLEGSELELAKMTMLLLYHSTMSSKSPRDWEQFE
  YKIQAELAVILKFVLDHEDGLNLNEDLENFLQKAPVPSTCSSTFPEELSPPSHQAKREIR
  FLELQKVASSSSGNNFLSGSPASPMGDILQTPQFQMRRLKKQLADERSNRDELELELAEN
  RKLLTEKDAQIAMMQQRIDRLALLNEKQAASPLEPKELEELRDKNESLTMRLHETLKQCQ
  DLKTEKSQMDRKINQLSEENGDLSFKLREFASHLQQLQDALNELTEEHSKATQEWLEKQA
  QLEKELSAALQDKKCLEEKNEILQGKLSQLEEHLSQLQDNPPQEKGEVLGDVLQLETLKQ
  EAATLAANNTQLQARVEMLETERGQQEAKLLAERGHFEEEKQQLSSLITDLQSSISNLSQ
  AKEELEQASQAHGARLTAQVASLTSELTTLNATIQQQDQELAGLKQQAKEKQAQLAQTLQ
  QQEQASQGLRHQVEQLSSSLKQKEQQLKEVAEKQEATRQDHAQQLATAAEEREASLRERD
  AALKQLEALEKEKAAKLEILQQQLQVANEARDSAQTSVTQAQREKAELSRKVEELQACVE
  TARQEQHEAQAQVAELELQLRSEQQKATEKERVAQEKDQLQEQLQALKESLKVTKGSLEE
  EKRRAADALEEQQRCISELKAETRSLVEQHKRERKELEEERAGRKGLEARLQQLGEAHQA
  ETEVLRRELAEAMAAQHTAESECEQLVKEVAAWRERYEDSQQEEAQYGAMFQEQLMTLKE
  ECEKARQELQEAKEKVAGIESHSELQISRQQNELAELHANLARALQQVQEKEVRAQKLAD
  DLSTLQEKMAATSKEVARLETLVRKAGEQQETASRELVKEPARAGDRQPEWLEEQQGRQF
  CSTQAALQAMEREAEQMGNELERLRAALMESQGQQQEERGQQEREVARLTQERGRAQADL
  ALEKAARAELEMRLQNALNEQRVEFATLQEALAHALTEKEGKDQELAKLRGLEAAQIKEL
  EELRQTVKQLKEQLAKKEKEHASGSGAQSEAAGRTEPTGPKLEALRAEVSKLEQQCQKQQ
  EQADSLERSLEAERASRAERDSALETLQGQLEEKAQELGHSQSALASAQRELAAFRTKVQ
  DHSKAEDEWKAQVARGRQEAERKNSLISSLEEEVSILNRQVLEKEGESKELKRLVMAESE
  KSQKLEERLRLLQAETASNSARAAERSSALREEVQSLREEAEKQRVASENLRQELTSQAE
  RAEELGQELKAWQEKFFQKEQALSTLQLEHTSTQALVSELLPAKHLCQQLQAEQAAAEKR
  HREELEQSKQAAGGLRAELLRAQRELGELIPLRQKVAEQERTAQQLRAEKASYAEQLSML
  KKAHGLLAEENRGLGERANLGRQFLEVELDQAREKYVQELAAVRADAETRLAEVQREAQS
  TARELEVMTAKYEGAKVKVLEERQRFQEERQKLTAQVEQLEVFQREQTKQVEELSKKLAD
  SDQASKVQQQKLKAVQAQGGESQQEAQRLQAQLNELQAQLSQKEQAAEHYKLQMEKAKTH
  YDAKKQQNQELQEQLRSLEQLQKENKELRAEAERLGHELQQAGLKTKEAEQTCRHLTAQV
  RSLEAQVAHADQQLRDLGKFQVATDALKSREPQAKPQLDLSIDSLDLSCEEGTPLSITSK
  LPRTQPDGTSVPGEPASPISQRLPPKVESLESLYFTPIPARSQAPLESSLDSLGDVFLDS
  GRKTRSARRRTTQIINITMTKKLDVEEPDSANSSFYSTRSAPASQASLRATSSTQSLARL
  GSPDYGNSALLSLPGYRPTTRSSARRSQAGVSSGAPPGRNSFYMGTCQDEPEQLDDWNRI
  AELQQRNRVCPPHLKTCYPLESRPSLSLGTITDEEMKTGDPQETLRRASMQPIQIAEGTG
  ITTRQQRKRVSLEPHQGPGTPESKKATSCFPRPMTPRDRHEGRKQSTTEAQKKAAPASTK
  QADRRQSMAFSILNTPKKLGNSLLRRGASKKALSKASPNTRSGTRRSPRIATTTASAATA
  AAIGATPRAKGKAKH

• Sequence length: 2115

Pathways

Reactome:

Recruitment of NuMA to mitotic centrosomes
Mitotic Prophase

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Anemia	Anemia	rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505
Dermatitis	Dermatitis, Allergic Contact	rs61816761, rs150597413, rs138726443, rs201356558, rs149484917, rs372754256, rs747301529, rs567795279, rs745915174	16033404
Hypofibrinogenemia	Hypofibrinogenemia	rs121913087, rs121913088, rs587776837, rs121909616, rs121909625, rs121909608, rs121909607, rs146387238, rs1578795296, rs1214070111, rs776817952, rs762964798, rs121909606, rs1414035000, rs1310452604
Neutropenia	Neutropenia	rs879253882
Pancytopenia	Pancytopenia	rs869312883, rs770551610, rs1131690788, rs530073586, rs374333820

Unknown
Disease term	Disease name	Evidence	References	Source
Alzheimer disease	Alzheimer disease			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Aneuploidy	Associate	19052088, 22719996
Autoimmune Diseases	Associate	9421497
Breast Neoplasms	Associate	15684076, 18331640, 30812030
Carcinoma Endometrioid	Associate	22719996
Carcinoma Mucoepidermoid	Associate	23583282
Carcinoma Ovarian Epithelial	Associate	22719996
Carcinoma Transitional Cell	Associate	22236881
Fuchs' Endothelial Dystrophy	Associate	28118661
Leukemia Promyelocytic Acute	Associate	15684076
Myotonic Dystrophy	Associate	34371182
Neoplasms	Associate	20876808, 23583282, 27197215
Neoplasms	Stimulate	22719996
Neoplasms	Inhibit	28748856
Neuroblastoma	Associate	23064640
Neurofibrosarcoma	Associate	33707600
Ovarian Neoplasms	Associate	22719996
Stomach Neoplasms	Associate	28748856
Tertiary Lymphoid Structures	Associate	18331640
Thyroid Cancer Papillary	Associate	35277656
Urinary Bladder Neoplasms	Stimulate	28929116, 29211353
Urinary Bladder Neoplasms	Associate	35647202