AiPD: Autoinhibited Protein Database

Q9BSH3

Gene name	NICN1
Protein name	Nicolin-1
Names	NPCEDRG, Tubulin polyglutamylase complex subunit 5, PGs5
Species	Homo sapiens (Human)
KEGG Pathway	hsa:84276
EC number
Protein Class

Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

130-201 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

130-201 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell Systems, 2, 89-100

Autoinhibited structure

Activated structure

1 structures for Q9BSH3

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q9BSH3-F1	Predicted				AlphaFoldDB

163 variants for Q9BSH3

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1227190516 CA352792965	2	S>F		No	ClinGen gnomAD
rs1177213646 CA352792969	2	S>P		No	ClinGen TOPMed gnomAD
rs759284971 CA2398775	3	R>C		No	ClinGen ExAC TOPMed gnomAD
CA352792960 rs1300459614	3	R>H		No	ClinGen TOPMed gnomAD
rs766321646 CA2398773	9	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs762840569 CA2398771	11	K>R		No	ClinGen ExAC gnomAD
CA2398769 rs748076037	12	G>A		No	ClinGen ExAC gnomAD
CA2398768 rs748076037	12	G>D		No	ClinGen ExAC gnomAD
CA2398770 rs748076037	12	G>V		No	ClinGen ExAC gnomAD
CA2398767 rs776591820	13	S>F		No	ClinGen ExAC TOPMed gnomAD
rs11130191 CA74522163	13	S>P		No	ClinGen gnomAD
CA74522158 rs371055267	14	V>I		No	ClinGen ESP TOPMed gnomAD
rs371055267 CA352792899	14	V>L		No	ClinGen ESP TOPMed gnomAD
rs780250047 CA2398764	17	Q>E		No	ClinGen ExAC gnomAD
rs758818324 CA352792868	19	G>C		No	ClinGen ExAC gnomAD
CA2398763 rs758818324	19	G>R		No	ClinGen ExAC gnomAD
CA2398761 rs138545966	22	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1040979365 CA74522145	23	T>I		No	ClinGen TOPMed
CA2398759 rs754321515	25	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs1008453474 CA74522137	27	R>Q		No	ClinGen TOPMed
rs575205701 CA2398757	27	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA352792813 rs1334148668	29	G>R		No	ClinGen gnomAD
CA352792807 rs1306568075	30	V>M		No	ClinGen gnomAD
CA2398751 rs762639505	33	I>T		No	ClinGen ExAC
CA352792789 rs1422632700	33	I>V		No	ClinGen gnomAD
CA352792758 CA352792757 rs1263261286	37	F>L		No	ClinGen gnomAD
rs1278801622 CA352792749	39	S>G		No	ClinGen TOPMed
rs564651403 CA2398748	39	S>N		No	ClinGen 1000Genomes ExAC gnomAD
CA2398747 rs546312930	40	V>L		No	ClinGen 1000Genomes ExAC gnomAD
CA74522123 rs1012870967	43	F>L		No	ClinGen TOPMed gnomAD
rs768791212 CA2398746	44	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA2398726 rs536608166	46	Q>K		No	ClinGen 1000Genomes ExAC gnomAD
CA2398725 rs759726662	49	T>M		No	ClinGen ExAC gnomAD
CA352792668 rs759726662	49	T>R		No	ClinGen ExAC gnomAD
CA2398722 rs749654660	54	Y>H		No	ClinGen ExAC gnomAD
CA74521328 rs951155624	57	F>S		No	ClinGen Ensembl
CA2398721 rs778228835	58	L>S		No	ClinGen ExAC gnomAD
TCGA novel	59	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs748614806 CA2398719	61	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA2398718 rs779757417 COSM1046152	61	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1334281149 CA352792583	62	V>I		No	ClinGen gnomAD
rs1469024205 CA352792576	63	R>C		No	ClinGen TOPMed gnomAD
rs1469024205 CA352792577	63	R>G		No	ClinGen TOPMed gnomAD
rs757890209 CA2398717	63	R>H		No	ClinGen ExAC TOPMed gnomAD
CA352792552 rs1281232444	66	T>I		No	ClinGen TOPMed
CA352792557 rs1575312435	66	T>P		No	ClinGen Ensembl
CA74521321 rs895694866	67	S>L		No	ClinGen TOPMed
rs778614691 CA2398715	69	H>R		No	ClinGen ExAC gnomAD
CA2398714 rs142395210	70	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1189230623 CA352792515	73	K>E		No	ClinGen gnomAD
TCGA novel	74	W>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA352792491 rs1466312762	76	T>S		No	ClinGen gnomAD
CA2398713 rs753669571	77	C>R		No	ClinGen ExAC TOPMed gnomAD
CA74521306 rs776166732	78	L>R		No	ClinGen Ensembl
CA2398710 rs770396289	79	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA2398711 rs554237656	79	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2398708 rs199572856	80	D>N		No	ClinGen ExAC TOPMed gnomAD
CA352792466 rs1337306680	81	Y>H		No	ClinGen gnomAD
CA352792417 rs1229142116	87	P>L		No	ClinGen gnomAD
CA74521281 rs758078235	88	H>Q		No	ClinGen TOPMed gnomAD
rs1451421188 CA352792406	89	S>N		No	ClinGen gnomAD
rs773731225 CA2398703	95	E>K		No	ClinGen ExAC gnomAD
CA74521273 rs940813266	96	Y>H		No	ClinGen TOPMed
rs1383431417 CA352792351	97	V>L		No	ClinGen gnomAD
CA2398700 rs777269497	98	S>L		No	ClinGen ExAC TOPMed gnomAD
CA74521267 rs907853826	98	S>T		No	ClinGen TOPMed
rs200502481 CA2398698	99	L>M		No	ClinGen ExAC TOPMed gnomAD
CA352792339 rs1197290983	99	L>P		No	ClinGen TOPMed
TCGA novel	102	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1452219313 CA352792313	103	Q>K		No	ClinGen TOPMed
CA74521142 rs1029295317	104	M>I		No	ClinGen Ensembl
CA2398681 rs146247089	105	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA2398680 rs747433176	106	C>Y		No	ClinGen ExAC TOPMed gnomAD
CA352792275 rs1289520104	107	D>N		No	ClinGen TOPMed gnomAD
TCGA novel	107	D>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1220100880 CA352792266	108	M>V		No	ClinGen TOPMed gnomAD
rs1311473136 CA352792253	109	A>V		No	ClinGen TOPMed
rs1321786514 CA352792248	110	R>K		No	ClinGen gnomAD
rs773934841 CA2398679	111	I>L		No	ClinGen ExAC gnomAD
CA352792242 rs1221692540	111	I>T		No	ClinGen gnomAD
rs770325517 CA2398678	112	S>L		No	ClinGen ExAC TOPMed gnomAD
rs770325517 CA352792235	112	S>W		No	ClinGen ExAC TOPMed gnomAD
CA74521123 rs202233337	113	E>G		No	ClinGen 1000Genomes
CA352792227 rs1346824898	114	L>I		No	ClinGen TOPMed
CA2398675 rs145426226	115	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2398674 rs753819126	115	R>H		No	ClinGen ExAC TOPMed gnomAD
CA352792214 rs1351666520	116	L>R		No	ClinGen gnomAD
rs1179976022 CA352792203	118	L>P		No	ClinGen TOPMed
CA2398673 COSM1660126 rs780788492	119	R>Q	kidney [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1157065672 CA352792200	119	R>W		No	ClinGen TOPMed gnomAD
rs766516451 CA2398670	120	Q>H		No	ClinGen ExAC TOPMed
CA2398671 rs751425773	120	Q>P		No	ClinGen ExAC TOPMed
CA2398669 rs758545729	123	P>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	124	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs750728722 CA2398668	127	S>Y		No	ClinGen ExAC gnomAD
rs1559532392 CA352792149	128	F>L		No	ClinGen Ensembl
CA74521095 rs893312920	130	V>M		No	ClinGen Ensembl
rs764038600 CA74521090	132	E>K		No	ClinGen Ensembl
CA352792114 rs1575312180	133	L>Q		No	ClinGen Ensembl
CA352792111 rs1391081484	134	Q>*		No	ClinGen TOPMed
CA352792096 rs1302285050	136	Y>H		No	ClinGen TOPMed
rs1332998939 CA352792081	137	Q>H		No	ClinGen TOPMed
CA352792078 rs1221476185	138	Q>K		No	ClinGen TOPMed
CA2398663 rs764316410	139	G>E		No	ClinGen ExAC gnomAD
rs777167030 CA2398664	139	G>R		No	ClinGen ExAC gnomAD
CA74520911 rs963035413	142	S>N		No	ClinGen TOPMed gnomAD
rs566704794 CA2398643	145	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1450678725 CA352792017	146	T>A		No	ClinGen gnomAD
rs181568602 CA2398642	147	F>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2398641 rs772744097	148	P>A		No	ClinGen ExAC gnomAD
TCGA novel	148	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA352791996 rs1282657485	149	K>R		No	ClinGen TOPMed
rs1255066676 CA352791946	156	P>L		No	ClinGen gnomAD
rs776139122 CA2398638	157	C>S		No	ClinGen ExAC gnomAD
CA352791938 rs1484439136	158	E>Q		No	ClinGen gnomAD
CA2398637 rs768550906	160	P>R		No	ClinGen ExAC gnomAD
CA74520895 rs548393212	160	P>T		No	ClinGen Ensembl
rs373451943 CA2398636	161	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA352791914 rs1343547888	161	A>V		No	ClinGen gnomAD
CA2398634 rs200840185	164	R>C		No	ClinGen ExAC TOPMed gnomAD
CA74520887 COSM291050 rs998001987	164	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs763655341	166	G>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA352791873 rs1385065263	166	G>V		No	ClinGen TOPMed gnomAD
rs1575311805 CA352791857	169	D>A		No	ClinGen Ensembl
rs1409334529 CA352791835	172	R>K		No	ClinGen gnomAD
CA2398617 rs199810125	174	S>F		No	ClinGen 1000Genomes ExAC
CA2398616 rs369188797	175	S>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA2398614 rs771195079	176	E>A		No	ClinGen ExAC TOPMed gnomAD
CA74520799 rs1001735262	176	E>K		No	ClinGen TOPMed gnomAD
CA2398612 rs777845316	179	Q>E		No	ClinGen ExAC gnomAD
rs1211736590 CA352791782	180	M>I		No	ClinGen gnomAD
TCGA novel	183	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs375016292 CA352791753	185	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA2398611 rs375016292	185	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs373009135 CA2398610	187	I>T		No	ClinGen ExAC TOPMed gnomAD
CA2398607 rs372441845	188	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1290034919 CA352791731	188	R>Q		No	ClinGen gnomAD
rs372441845 CA2398608	188	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA352791728 rs1374736804	189	A>T		No	ClinGen TOPMed
CA2398606 rs61729946	191	H>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA352791704 rs1323584398	192	T>I		No	ClinGen gnomAD
CA352791699 rs1385898773	193	S>A		No	ClinGen gnomAD
CA74520769 rs866788216	193	S>F		No	ClinGen Ensembl
rs753319061 CA2398604	194	A>S		No	ClinGen ExAC TOPMed gnomAD
rs753319061 COSM1423948 CA352791696	194	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs201058670 CA2398603	196	I>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA352791677 rs775251872	197	G>C		No	ClinGen ExAC TOPMed gnomAD
rs775251872 CA2398601	197	G>S		No	ClinGen ExAC TOPMed gnomAD
rs767487013 CA2398600	198	R>C		No	ClinGen ExAC gnomAD
rs139418131 CA74520758	198	R>H		No	ClinGen ESP TOPMed gnomAD
CA352791667 rs1247555893	199	F>V		No	ClinGen gnomAD
CA352791641 rs1279132786	201	V>M		No	ClinGen gnomAD
rs1171686644 CA352791632	202	D>G		No	ClinGen gnomAD
CA2398583 rs755646716	202	D>N		No	ClinGen ExAC gnomAD
TCGA novel	203	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel rs189963854 CA352791607	205	Y>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1340013284 CA352791610	205	Y>C		No	ClinGen gnomAD
rs1228522480 CA352791600	206	D>E		No	ClinGen gnomAD
rs767292718 CA2398581	207	L>P		No	ClinGen ExAC
rs759200754 CA2398580	209	L>F		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	210	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2398579 rs751434221	211	S>F		No	ClinGen ExAC TOPMed gnomAD
rs1408496701 CA352791554	214	T>R		No	ClinGen gnomAD

No associated diseases with Q9BSH3

No regional properties for Q9BSH3

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for Q9BSH3

Functions

		Description
EC Number
Subcellular Localization	Nucleus
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

2 GO annotations of cellular component

Name	Definition
microtubule	Any of the long, generally straight, hollow tubes of internal diameter 12-15 nm and external diameter 24 nm found in a wide variety of eukaryotic cells; each consists (usually) of 13 protofilaments of polymeric tubulin, staggered in such a manner that the tubulin monomers are arranged in a helical pattern on the microtubular surface, and with the alpha/beta axes of the tubulin subunits parallel to the long axis of the tubule; exist in equilibrium with pool of tubulin monomers and can be rapidly assembled or disassembled in response to physiological stimuli; concerned with force generation, e.g. in the spindle.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.

No GO annotations of molecular function

Name	Definition
No GO annotations for molecular function

No GO annotations of biological process

Name	Definition
No GO annotations for biological process

2 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q861Y6	NICN1	Nicolin-1	Canis lupus familiaris (Dog) (Canis familiaris)	PR
Q9CQM0	Nicn1	Nicolin-1	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MSRVLVPCHV	KGSVALQVGD	VRTSQGRPGV	LVIDVTFPSV	APFELQEITF	KNYYTAFLSI
70	80	90	100	110	120
RVRQYTSAHT	PAKWVTCLRD	YCLMPDPHSE	EGAQEYVSLF	KHQMLCDMAR	ISELRLILRQ
130	140	150	160	170	180
PSPLWLSFTV	EELQIYQQGP	KSPSVTFPKW	LSHPVPCEQP	ALLREGLPDP	SRVSSEVQQM
190	200	210
WALTEMIRAS	HTSARIGRFD	VDGCYDLNLL	SYT