KATNB1 (katanin regulatory subunit B1)

Gene

• Entrez ID: 10300
• Gene name: Katanin regulatory subunit B1
• Gene symbol: KATNB1
• Synonyms: KAT, LIS6
• Chromosome: 16
• Chromosome location: 16q21
• Summary: Microtubules, polymers of alpha and beta tubulin subunits, form the mitotic spindle of a dividing cell and help to organize membranous organelles during interphase. Katanin is a heterodimer that consists of a 60 kDa ATPase (p60 subunit A 1) and an 80 kDa

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs730880257	C>T	Pathogenic	Missense variant, coding sequence variant
rs730880258	T>G	Pathogenic	Missense variant, coding sequence variant
rs730880259	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs879255517	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs879255519	G>A	Pathogenic	Splice donor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT051547	hsa-let-7e-5p	CLASH	23622248
MIRT050360	hsa-miR-25-3p	CLASH	23622248
MIRT043768	hsa-miR-328-3p	CLASH	23622248
MIRT1079225	hsa-miR-15a	CLIP-seq
MIRT1079226	hsa-miR-15b	CLIP-seq
MIRT1079227	hsa-miR-16	CLIP-seq
MIRT1079228	hsa-miR-195	CLIP-seq
MIRT1079229	hsa-miR-3120-3p	CLIP-seq
MIRT1079230	hsa-miR-340	CLIP-seq
MIRT1079231	hsa-miR-424	CLIP-seq
MIRT1079232	hsa-miR-4323	CLIP-seq
MIRT1079233	hsa-miR-497	CLIP-seq
MIRT2019726	hsa-miR-137	CLIP-seq
MIRT1079225	hsa-miR-15a	CLIP-seq
MIRT1079226	hsa-miR-15b	CLIP-seq
MIRT1079227	hsa-miR-16	CLIP-seq
MIRT1079228	hsa-miR-195	CLIP-seq
MIRT1079231	hsa-miR-424	CLIP-seq
MIRT1079233	hsa-miR-497	CLIP-seq
MIRT2554910	hsa-miR-1291	CLIP-seq
MIRT2554911	hsa-miR-146b-3p	CLIP-seq
MIRT2554912	hsa-miR-1587	CLIP-seq
MIRT1079225	hsa-miR-15a	CLIP-seq
MIRT1079226	hsa-miR-15b	CLIP-seq
MIRT1079227	hsa-miR-16	CLIP-seq
MIRT2554913	hsa-miR-1909	CLIP-seq
MIRT1079228	hsa-miR-195	CLIP-seq
MIRT2554914	hsa-miR-214	CLIP-seq
MIRT2554915	hsa-miR-2467-3p	CLIP-seq
MIRT2554916	hsa-miR-2467-5p	CLIP-seq
MIRT2554917	hsa-miR-3619-5p	CLIP-seq
MIRT1079231	hsa-miR-424	CLIP-seq
MIRT2554918	hsa-miR-4265	CLIP-seq
MIRT2554919	hsa-miR-4296	CLIP-seq
MIRT2554920	hsa-miR-4322	CLIP-seq
MIRT2554921	hsa-miR-4417	CLIP-seq
MIRT2554922	hsa-miR-4433	CLIP-seq
MIRT2554923	hsa-miR-4436a	CLIP-seq
MIRT2554924	hsa-miR-4447	CLIP-seq
MIRT2554925	hsa-miR-4457	CLIP-seq
MIRT2554926	hsa-miR-4472	CLIP-seq
MIRT2554927	hsa-miR-4481	CLIP-seq
MIRT2554928	hsa-miR-4488	CLIP-seq
MIRT2554929	hsa-miR-4492	CLIP-seq
MIRT2554930	hsa-miR-4498	CLIP-seq
MIRT2554931	hsa-miR-4514	CLIP-seq
MIRT2554932	hsa-miR-4640-5p	CLIP-seq
MIRT2554933	hsa-miR-4645-5p	CLIP-seq
MIRT2554934	hsa-miR-4649-3p	CLIP-seq
MIRT2554935	hsa-miR-4656	CLIP-seq
MIRT2554936	hsa-miR-4673	CLIP-seq
MIRT2554937	hsa-miR-4675	CLIP-seq
MIRT2554938	hsa-miR-4692	CLIP-seq
MIRT2554939	hsa-miR-4697-5p	CLIP-seq
MIRT2554940	hsa-miR-4700-3p	CLIP-seq
MIRT2554941	hsa-miR-4726-5p	CLIP-seq
MIRT2554942	hsa-miR-4741	CLIP-seq
MIRT2554943	hsa-miR-4745-5p	CLIP-seq
MIRT2554944	hsa-miR-4755-3p	CLIP-seq
MIRT1079233	hsa-miR-497	CLIP-seq
MIRT2554945	hsa-miR-761	CLIP-seq
MIRT2554946	hsa-miR-762	CLIP-seq
MIRT2554910	hsa-miR-1291	CLIP-seq
MIRT2554911	hsa-miR-146b-3p	CLIP-seq
MIRT2554912	hsa-miR-1587	CLIP-seq
MIRT1079225	hsa-miR-15a	CLIP-seq
MIRT1079226	hsa-miR-15b	CLIP-seq
MIRT1079227	hsa-miR-16	CLIP-seq
MIRT2554913	hsa-miR-1909	CLIP-seq
MIRT1079228	hsa-miR-195	CLIP-seq
MIRT2554914	hsa-miR-214	CLIP-seq
MIRT2554915	hsa-miR-2467-3p	CLIP-seq
MIRT2554916	hsa-miR-2467-5p	CLIP-seq
MIRT2554917	hsa-miR-3619-5p	CLIP-seq
MIRT1079231	hsa-miR-424	CLIP-seq
MIRT2554918	hsa-miR-4265	CLIP-seq
MIRT2554919	hsa-miR-4296	CLIP-seq
MIRT2554920	hsa-miR-4322	CLIP-seq
MIRT2554921	hsa-miR-4417	CLIP-seq
MIRT2554922	hsa-miR-4433	CLIP-seq
MIRT2554923	hsa-miR-4436a	CLIP-seq
MIRT2554924	hsa-miR-4447	CLIP-seq
MIRT2554925	hsa-miR-4457	CLIP-seq
MIRT2554926	hsa-miR-4472	CLIP-seq
MIRT2554927	hsa-miR-4481	CLIP-seq
MIRT2554928	hsa-miR-4488	CLIP-seq
MIRT2554929	hsa-miR-4492	CLIP-seq
MIRT2554930	hsa-miR-4498	CLIP-seq
MIRT2554931	hsa-miR-4514	CLIP-seq
MIRT2554932	hsa-miR-4640-5p	CLIP-seq
MIRT2554933	hsa-miR-4645-5p	CLIP-seq
MIRT2554934	hsa-miR-4649-3p	CLIP-seq
MIRT2554935	hsa-miR-4656	CLIP-seq
MIRT2554936	hsa-miR-4673	CLIP-seq
MIRT2554937	hsa-miR-4675	CLIP-seq
MIRT2554938	hsa-miR-4692	CLIP-seq
MIRT2554939	hsa-miR-4697-5p	CLIP-seq
MIRT2554940	hsa-miR-4700-3p	CLIP-seq
MIRT2554941	hsa-miR-4726-5p	CLIP-seq
MIRT2554942	hsa-miR-4741	CLIP-seq
MIRT2554943	hsa-miR-4745-5p	CLIP-seq
MIRT2554944	hsa-miR-4755-3p	CLIP-seq
MIRT1079233	hsa-miR-497	CLIP-seq
MIRT2554945	hsa-miR-761	CLIP-seq
MIRT2554946	hsa-miR-762	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000922	Component	Spindle pole	IDA	10751153, 26929214
GO:0005515	Function	Protein binding	IPI	24486153, 26496610, 26929214, 28514442, 32814053
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005737	Component	Cytoplasm	IDA	10751153, 26929214
GO:0005813	Component	Centrosome	IEA
GO:0005819	Component	Spindle	IDA	26929214
GO:0005829	Component	Cytosol	IDA
GO:0005874	Component	Microtubule	IDA	26929214
GO:0005886	Component	Plasma membrane	IDA
GO:0006605	Process	Protein targeting	NAS	10751153
GO:0007019	Process	Microtubule depolymerization	IBA	21873635
GO:0007026	Process	Negative regulation of microtubule depolymerization	IMP	10751153
GO:0007079	Process	Mitotic chromosome movement towards spindle pole	IEA
GO:0008017	Function	Microtubule binding	NAS	10751153
GO:0008352	Component	Katanin complex	IBA	21873635
GO:0008352	Component	Katanin complex	IDA	9568719
GO:0008352	Component	Katanin complex	TAS	10751153
GO:0010942	Process	Positive regulation of cell death	IEA
GO:0010976	Process	Positive regulation of neuron projection development	IEA
GO:0015630	Component	Microtubule cytoskeleton	IDA
GO:0016020	Component	Membrane	HDA	19946888
GO:0030426	Component	Growth cone	IEA
GO:0030496	Component	Midbody	IEA
GO:0031117	Process	Positive regulation of microtubule depolymerization	IMP	10751153
GO:0043025	Component	Neuronal cell body	IEA
GO:0046982	Function	Protein heterodimerization activity	IPI	10751153
GO:0050790	Process	Regulation of catalytic activity	IEA
GO:0051013	Process	Microtubule severing	IEA
GO:0051301	Process	Cell division	IEA
GO:0060590	Function	ATPase regulator activity	IDA	10751153
GO:0070840	Function	Dynein complex binding	IEA

Other IDs

• MIM: 602703
• HGNC: 6217
• e!Ensembl: ENSG00000140854

Protein

• UniProt ID: Q9BVA0
• Protein name: Katanin p80 WD40 repeat-containing subunit B1 (Katanin p80 subunit B1) (p80 katanin)
• Protein function: Participates in a complex which severs microtubules in an ATP-dependent manner. May act to target the enzymatic subunit of this complex to sites of action such as the centrosome. Microtubule severing may promote rapid reorganization of cellular
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00400	WD40	10 → 49	WD domain, G-beta repeat	Repeat
  PF00400	WD40	53 → 91	WD domain, G-beta repeat	Repeat
  PF00400	WD40	95 → 133	WD domain, G-beta repeat	Repeat
  PF00400	WD40	137 → 175	WD domain, G-beta repeat	Repeat
  PF00400	WD40	179 → 217	WD domain, G-beta repeat	Repeat
  PF13925	Katanin_con80	493 → 651	con80 domain of Katanin	Domain

• Sequence:

  MATPVVTKTAWKLQEIVAHASNVSSLVLGKASGRLLATGGDDCRVNLWSINKPNCIMSLT
  GHTSPVESVRLNTPEELIVAGSQSGSIRVWDLEAAKILRTLMGHKANICSLDFHPYGEFV
  ASGSQDTNIKLWDIRRKGCVFRYRGHSQAVRCLRFSPDGKWLASAADDHTVKLWDLTAGK
  MMSEFPGHTGPVNVVEFHPNEYLLASGSSDRTIRFWDLEKFQVVSCIEGEPGPVRSVLFN
  PDGCCLYSGCQDSLRVYGWEPERCFDVVLVNWGKVADLAICNDQLIGVAFSQSNVSSYVV
  DLTRVTRTGTVARDPVQDHRPLAQPLPNPSAPLRRIYERPSTTCSKPQRVKQNSESERRS
  PSSEDDRDERESRAEIQNAEDYNEIFQPKNSISRTPPRRSEPFPAPPEDDAATAKEAAKP
  SPAMDVQFPVPNLEVLPRPPVVASTPAPKAEPAIIPATRNEPIGLKASDFLPAVKIPQQA
  ELVDEDAMSQIRKGHDTMCVVLTSRHKNLDTVRAVWTMGDIKTSVDSAVAINDLSVVVDL
  LNIVNQKASLWKLDLCTTVLPQIEKLLQSKYESYVQTGCTSLKLILQRFLPLITDMLAAP
  PSVGVDISREERLHKCRLCYKQLKSISGLVKSKSGLSGRHGSTFRELHLLMASLD

• Sequence length: 655

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Lissencephaly with microcephaly	LISSENCEPHALY 6 WITH MICROCEPHALY	rs730880257, rs730880258, rs879255517, rs879255518, rs730880259, rs879255519	25521379, 25521378, 26640080
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019, rs199422184, rs137852994, rs137852995, rs137852996, rs137852997, rs145489194, rs80338860, rs137852494, rs121918609, rs199422207, rs199422206, rs29001566, rs864321658, rs199422138, rs199422139, rs199422141, rs199422144, rs199422147, rs199422151, rs199422152, rs199422153, rs199422157, rs199422159, rs199422160, rs199422161, rs140602858, rs199422164, rs199422165, rs148294838, rs199422134, rs199422168, rs199422172, rs199422173, rs199422131, rs199422177, rs199422180, rs199422185, rs199422186, rs199422187, rs143931757, rs199422189, rs199422192, rs199422194, rs199422195, rs199422196, rs199422197, rs199422199, rs753597039, rs1488084787, rs387906961, rs755862917, rs387907082, rs587776899, rs387907083, rs587776900, rs587776901, rs387907084, rs863223322, rs764201220, rs202247811, rs763915472, rs587776986, rs587777036, rs398122971, rs374351172, rs373278668, rs398122976, rs121909123, rs587783393, rs730882076, rs587783211, rs144716013, rs606231255, rs587783215, rs587783216, rs587783220, rs587783221, rs587783225, rs587783227, rs587783228, rs587783230, rs587783238, rs587783239, rs587783240, rs587783245, rs587783247, rs587783248, rs587783258, rs587783259, rs587783263, rs587783265, rs587783268, rs587783269, rs587783272, rs587783275, rs587783277, rs587783278, rs587783280, rs587783282, rs587783283, rs587783285, rs587783287, rs587783288, rs587783289, rs587783292, rs587783295, rs587784452, rs587783741, rs587783735, rs587783392, rs587783390, rs587783387, rs587783410, rs202058504, rs587783423, rs587783421, rs587783414, rs587784553, rs587784558, rs587784546, rs587784549, rs587784554, rs587784412, rs876661307, rs869025200, rs747831095, rs748529285, rs797045316, rs797045315, rs797045314, rs759632528, rs797045313, rs797045311, rs754282058, rs797045441, rs797045454, rs797045430, rs869312853, rs797046109, rs767399782, rs863225127, rs863225464, rs863225465, rs780270096, rs864321621, rs864321620, rs775277800, rs879253817, rs869312824, rs761447719, rs753406334, rs147622433, rs199422137, rs879255522, rs879255524, rs879255523, rs886037892, rs886037893, rs886037894, rs886037895, rs199422169, rs886041709, rs886041282, rs138228629, rs759188041, rs769688376, rs1057517688, rs1057519087, rs1057518268, rs933106143, rs201362977, rs754909135, rs1057520873, rs1060499758, rs1060499757, rs199422146, rs748016594, rs1085307120, rs763715733, rs1064795945, rs763800571, rs1554728351, rs1553227021, rs555866170, rs1553895368, rs1334947797, rs769818500, rs1321892596, rs1553227645, rs1404276011, rs1553228275, rs1554471681, rs1554496609, rs1555420891, rs1555418825, rs587784548, rs1555723585, rs199736219, rs745997770, rs765275884, rs1553924800, rs1554730137, rs1229568621, rs1482100822, rs979186313, rs758157294, rs1555294652, rs1555299107, rs1553264033, rs1553259539, rs1553254322, rs1553259528, rs981349334, rs1553264036, rs1553253022, rs754267846, rs776034810, rs1342429887, rs752140135, rs1006898944, rs571640983, rs1477524771, rs763909256, rs199910503, rs1553223496, rs759663956, rs1553446603, rs1555139372, rs1555143325, rs1350194762, rs1555141158, rs1553225179, rs769481947, rs769364943, rs748011724, rs1334301723, rs746341112, rs149225624, rs765113367, rs1567024512, rs142865061, rs772050241, rs201721894, rs1557966012, rs1379578836, rs1568334868, rs1185537869, rs1602333390, rs1163303148, rs774338373, rs770540184, rs1571600045, rs1571601267, rs1571602991, rs1588472215, rs1599841026, rs1558328287, rs1571600860, rs1571596976, rs1309880692, rs1435239428, rs1588634016, rs1751797979, rs1810830776, rs1815354949, rs1949984655, rs886039658, rs1943461045, rs777711720, rs2031759596, rs1555710223, rs1221031683, rs774069989, rs2058919680, rs1170413397, rs1213710245, rs1599851667, rs1599760058, rs1971033478, rs746967357
Microlissencephaly	Microlissencephaly	rs771116788	25521379, 25521378
Polymicrogyria	Polymicrogyria	rs1558010146, rs1558003446, rs1575508937

Unknown
Disease name	Disease term	dbSNP ID	References
Hypoplasia of corpus callosum	Hypoplasia of corpus callosum
Impaired cognition	Impaired cognition
Neuronal heterotopia	Neuronal heterotopia
Pachygyria	Pachygyria
Partial agenesis of corpus callosum	Partial agenesis of corpus callosum