AiPD: Autoinhibited Protein Database

Q9BPW8

Gene name	NIPSNAP1
Protein name	Protein NipSnap homolog 1
Names	NipSnap1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:8508
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-70 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-70 (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 Q9BPW8

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q9BPW8-F1	Predicted				AlphaFoldDB

169 variants for Q9BPW8

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs775646166 CA10175549	2	A>P		No	ClinGen ExAC TOPMed gnomAD
rs775646166 CA10175550	2	A>T		No	ClinGen ExAC TOPMed gnomAD
CA323079576 rs199579423	2	A>V		No	ClinGen 1000Genomes TOPMed gnomAD
CA323079574 rs920627402 COSM1217365	3	P>L	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA10175548 rs769966809	4	R>P		No	ClinGen ExAC TOPMed gnomAD
rs1321737591 CA411141370	4	R>W		No	ClinGen gnomAD
CA323079564 rs1026680887	5	L>P		No	ClinGen Ensembl
CA411141342 rs370714358	7	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA10175547 rs370714358	7	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs370714358 CA411141343	7	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1167238986 CA411141341	7	S>T		No	ClinGen gnomAD
rs1188893024 CA411141320	10	V>M		No	ClinGen gnomAD
rs549356766 CA411141286	12	A>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1244616277 CA411141297	12	A>T		No	ClinGen gnomAD
rs549356766 CA10175546	12	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1451653444 CA411141276	13	R>L		No	ClinGen gnomAD
rs1205111361 CA411141268	14	R>Q		No	ClinGen TOPMed gnomAD
rs1271615193 CA411141272	14	R>W		No	ClinGen TOPMed gnomAD
rs983011144 CA323079554	15	L>V		No	ClinGen TOPMed
rs903389615 CA323079552	16	L>R		No	ClinGen TOPMed gnomAD
CA323079551 rs1029824190	17	G>V		No	ClinGen TOPMed
CA323079539 rs1020853380	18	G>D		No	ClinGen gnomAD
rs748029111 CA10175544	19	P>L		No	ClinGen ExAC gnomAD
rs771845647 CA10175545	19	P>S		No	ClinGen ExAC gnomAD
rs1011860183 CA323079523	23	A>S		No	ClinGen Ensembl
CA411141079 rs1328225428	24	G>V		No	ClinGen gnomAD
rs1191335091 CA411141060	25	D>A		No	ClinGen gnomAD
CA411141064 rs1427748284	25	D>N		No	ClinGen gnomAD
CA10175543 rs778657149	26	V>F		No	ClinGen ExAC gnomAD
rs375062530 CA10175522	34	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA323104624 TCGA novel rs777841185	36	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen Ensembl
rs997442457 CA323104609	37	K>E		No	ClinGen Ensembl
rs780183015 CA411153159	38	D>E		No	ClinGen ExAC TOPMed gnomAD
rs769424456 CA10175519	39	N>D		No	ClinGen ExAC gnomAD
CA10175517 rs780937392	41	G>S		No	ClinGen ExAC gnomAD
CA411153123 rs1179632434	41	G>V		No	ClinGen TOPMed
CA10175516 rs201191849	45	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs751832850 CA10175515	45	R>H		No	ClinGen ExAC TOPMed gnomAD
CA411153056 rs1222257761	47	L>P		No	ClinGen TOPMed gnomAD
CA411153053 rs1222257761	47	L>R		No	ClinGen TOPMed gnomAD
CA411153024 rs1295150897	50	H>R		No	ClinGen gnomAD
rs748363591 CA323104573	53	D>N		No	ClinGen Ensembl
CA323104568 rs796797747	53	D>V		No	ClinGen Ensembl
CA10175513 rs758725900	55	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA411152975 rs1601493877	55	R>W		No	ClinGen Ensembl
rs1376202361 CA411152946	57	D>E		No	ClinGen Ensembl
CA10175510 rs538441678	65	K>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs202037649 CA10175508	67	E>A		No	ClinGen 1000Genomes ExAC gnomAD
CA411152856 rs760972117	70	N>K		No	ClinGen ExAC TOPMed gnomAD
CA10175506 rs149215782	71	L>F		No	ClinGen 1000Genomes ExAC gnomAD
rs1431615470 CA411152850	71	L>R		No	ClinGen gnomAD
CA323104550 rs779322751	72	Y>C		No	ClinGen Ensembl
rs1191787838 CA411152828	74	I>M		No	ClinGen gnomAD
CA411152803 rs1182462417	76	F>Y		No	ClinGen gnomAD
CA411152798 rs1397695370	77	H>N		No	ClinGen gnomAD
CA10175492 rs748522037	78	N>D		No	ClinGen ExAC
CA323104407 rs894364772	78	N>S		No	ClinGen TOPMed
CA411152785 rs1439424357	79	V>I		No	ClinGen gnomAD
CA411152770 rs1379580667	81	P>A		No	ClinGen gnomAD
CA10175489 rs753863971	82	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA411152753 rs1601493702	83	Y>S		No	ClinGen Ensembl
CA411152706 rs1184296932	88	N>S		No	ClinGen gnomAD
rs1438254404 CA411152696	89	S>G		No	ClinGen TOPMed gnomAD
rs1255228531 CA411152679	90	L>F		No	ClinGen TOPMed gnomAD
rs756189955 CA411152675	90	L>P		No	ClinGen ExAC TOPMed gnomAD
rs756189955 CA10175487	90	L>R		No	ClinGen ExAC TOPMed gnomAD
rs750655840 CA10175486	91	T>A		No	ClinGen ExAC
CA10175485 rs190677339	91	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10175463 rs752493266	93	A>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	96	P>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1389985524 CA411152286	96	P>R		No	ClinGen gnomAD
CA411152209 rs1298156042	100	L>Q		No	ClinGen TOPMed
CA10175462 rs765106450	101	D>E		No	ClinGen ExAC gnomAD
rs1443566133 CA411152124	105	P>S		No	ClinGen gnomAD
rs759448156 CA10175461	106	C>G		No	ClinGen ExAC TOPMed gnomAD
rs1601493089 CA411152082	107	S>L		No	ClinGen Ensembl
rs753797114 CA10175460	108	L>V		No	ClinGen ExAC gnomAD
rs1569247629 CA411152064	109	V>E		No	ClinGen Ensembl
CA10175456 rs771705391 CA10175458	109	V>L		No	ClinGen ExAC TOPMed gnomAD
CA10175457 rs771705391	109	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1215942380 CA411152031	112	W>*		No	ClinGen gnomAD
rs1282415333 CA411152037	112	W>R		No	ClinGen TOPMed
CA10175454 rs774032536	114	T>M		No	ClinGen ExAC gnomAD
CA10175452 rs749711910	116	Y>H		No	ClinGen ExAC gnomAD
CA10175451 rs780554208	121	Q>R		No	ClinGen ExAC gnomAD
rs1601488850 CA411151787	124	H>Y		No	ClinGen Ensembl
rs778071409 CA10175425	127	R>Q		No	ClinGen ExAC gnomAD
rs540137406 CA323099451	129	S>L		No	ClinGen TOPMed gnomAD
rs1409676051 CA411151725	130	G>D		No	ClinGen TOPMed
rs1409676051 CA411151723	130	G>V		No	ClinGen TOPMed
CA411151669 rs1228294715	136	M>T		No	ClinGen TOPMed gnomAD
CA10175423 rs753617295	138	C>F		No	ClinGen ExAC gnomAD
CA411151626 rs1601488818	139	M>I		No	ClinGen Ensembl
CA10175422 rs779689147	141	K>M		No	ClinGen ExAC
CA411151564 rs1304989913	145	N>S		No	ClinGen gnomAD
TCGA novel rs1412087760 CA411151505	151	F>L	Variant assessed as Somatic; 0.0 impact. Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA10175402 rs745690437	151	F>Y		No	ClinGen ExAC TOPMed gnomAD
rs376049322 CA10175401	152	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA323099277 rs1035815628	153	R>K		No	ClinGen TOPMed gnomAD
rs763575274 CA10175396	155	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA10175397 rs751022967	155	R>W		No	ClinGen ExAC TOPMed
CA10175395 rs757969780	157	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA411151465 rs1261342504	158	M>T		No	ClinGen gnomAD
CA411151452 rs1480701358	160	L>P		No	ClinGen TOPMed gnomAD
CA411151441 rs1188391204	162	R>K		No	ClinGen TOPMed
CA10175393 rs765001822	163	R>T		No	ClinGen ExAC gnomAD
CA411151430 rs1471775092	164	N>D		No	ClinGen TOPMed
CA10175392 rs759749208	166	L>M		No	ClinGen ExAC gnomAD
CA10175390 rs766941157	172	F>L		No	ClinGen ExAC TOPMed gnomAD
CA10175389 rs761239603	181	G>D		No	ClinGen ExAC TOPMed gnomAD
CA411151300 rs1272037694	182	P>T		No	ClinGen Ensembl
rs199705087 CA10175388	184	I>F		No	ClinGen 1000Genomes ExAC TOPMed
rs1389885436 CA411151244	190	Y>C		No	ClinGen gnomAD
CA10175386 rs748317025	193	K>R		No	ClinGen ExAC gnomAD
CA411151066 rs1397546548 COSM1616346	195	G>E	liver [Cosmic]	No	ClinGen cosmic curated gnomAD
CA411150898 rs1444803657	206	R>Q		No	ClinGen gnomAD
rs200255450 CA10175334	208	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs766573116 CA323098663	209	K>E		No	ClinGen Ensembl
CA10175333 rs781600107	209	K>R		No	ClinGen ExAC TOPMed gnomAD
rs757605404 COSM295667 CA10175332	210	Y>*	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA411150862 rs1351958846	210	Y>H		No	ClinGen gnomAD
rs1311706190 COSM725985 CA411150848	211	R>W	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA10175331 rs752105600	213	E>G		No	ClinGen ExAC gnomAD
CA10175330 rs764570087	214	N>D		No	ClinGen ExAC
CA10175329 rs758418702	214	N>K		No	ClinGen ExAC gnomAD
rs1216557225 CA411150775	218	V>A		No	ClinGen gnomAD
CA411150769 rs1320301551	219	G>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA411150766 rs1389918354	220	G>S		No	ClinGen gnomAD
CA10175325 rs776755316	225	I>T		No	ClinGen ExAC gnomAD
rs767337911 CA10175324	226	G>A		No	ClinGen ExAC gnomAD
CA411150711 rs1167609588	228	L>I		No	ClinGen gnomAD
rs1474185479 CA411150706	228	L>R		No	ClinGen gnomAD
rs1243361717 CA411150701	229	Y>C		No	ClinGen gnomAD
CA10175322 rs774286424	230	V>M		No	ClinGen ExAC TOPMed gnomAD
CA323098599 rs763198670	236	A>T		No	ClinGen Ensembl
rs766522048 CA10175303	239	D>E		No	ClinGen ExAC gnomAD
CA411150427 rs1229585755	242	S>F		No	ClinGen TOPMed
CA10175302 rs761600779	243	R>L		No	ClinGen ExAC TOPMed gnomAD
rs761600779 CA411150418	243	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs761233533 CA323097525	243	R>W		No	ClinGen TOPMed
rs770238779 CA323097514	244	E>K		No	ClinGen Ensembl
rs770238779 CA411150414	244	E>Q		No	ClinGen Ensembl
rs1058646 VAR_011630 CA411150404	245	E>K		No	ClinGen UniProt dbSNP gnomAD
rs764074448 CA323097491 COSM1217364	247	R>*	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1461361720 CA411150347	249	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs769426473 CA10175297	250	A>T		No	ClinGen ExAC gnomAD
rs759029569 CA10175296	254	R>T		No	ClinGen ExAC gnomAD
CA10175294 rs770497323	257	D>G		No	ClinGen ExAC gnomAD
CA411150225 rs1601486857	258	E>G		No	ClinGen Ensembl
rs747363210 CA10175293	259	N>K		No	ClinGen ExAC gnomAD
CA411150209 rs1430606435	259	N>S		No	ClinGen gnomAD
CA10175292 rs778084565	263	T>I		No	ClinGen ExAC gnomAD
CA411150152 rs778084565	263	T>R		No	ClinGen ExAC gnomAD
rs1180311740 CA411149964	265	P>R		No	ClinGen TOPMed
TCGA novel	266	L>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1347430219 CA411149957	267	V>M		No	ClinGen gnomAD
rs770519865 CA411149949	268	R>P		No	ClinGen ExAC TOPMed gnomAD
rs770519865 CA10175274	268	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA411149914 rs1445417237	273	R>K		No	ClinGen gnomAD
rs1261193383 CA411149911	273	R>S		No	ClinGen TOPMed gnomAD
CA323095199 rs200519385	277	P>T		No	ClinGen 1000Genomes
rs760226044 CA10175272	278	L>S		No	ClinGen ExAC gnomAD
rs1242620407 CA411149870	279	K>N		No	ClinGen TOPMed gnomAD
CA10175271 rs532196815	279	K>T		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	280	I>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA411149859 rs1281190180	281	S>*		No	ClinGen gnomAD
CA411149857 rs1281190180	281	S>L		No	ClinGen gnomAD
rs914732925 CA323095181	281	S>P		No	ClinGen TOPMed
rs1357015194 CA411149841	284	Q>R		No	ClinGen gnomAD

No associated diseases with Q9BPW8

1 regional properties for Q9BPW8

Type	Name	Position	InterPro Accession
domain	NIPSNAP	185 - 282	IPR012577

Functions

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

2 GO annotations of cellular component

Name	Definition
mitochondrion	A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration.
synaptic membrane	A specialized area of membrane on either the presynaptic or the postsynaptic side of a synapse, the junction between a nerve fiber of one neuron and another neuron or muscle fiber or glial cell.

1 GO annotations of molecular function

Name	Definition
neurotransmitter binding	Binding to a neurotransmitter, any chemical substance that is capable of transmitting (or inhibiting the transmission of) a nerve impulse from a neuron to another cell.

1 GO annotations of biological process

Name	Definition
sensory perception of pain	The series of events required for an organism to receive a painful stimulus, convert it to a molecular signal, and recognize and characterize the signal. Pain is medically defined as the physical sensation of discomfort or distress caused by injury or illness, so can hence be described as a harmful stimulus which signals current (or impending) tissue damage. Pain may come from extremes of temperature, mechanical damage, electricity or from noxious chemical substances. This is a neurological process.

No homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
No homologous proteins

10	20	30	40	50	60
MAPRLCSISV	TARRLLGGPG	PRAGDVASAA	AARFYSKDNE	GSWFRSLFVH	KVDPRKDAHS
70	80	90	100	110	120
TLLSKKETSN	LYKIQFHNVK	PEYLDAYNSL	TEAVLPKLHL	DEDYPCSLVG	NWNTWYGEQD
130	140	150	160	170	180
QAVHLWRFSG	GYPALMDCMN	KLKNNKEYLE	FRRERSQMLL	SRRNQLLLEF	SFWNEPQPRM
190	200	210	220	230	240
GPNIYELRTY	KLKPGTMIEW	GNNWARAIKY	RQENQEAVGG	FFSQIGELYV	VHHLWAYKDL
250	260	270	280
QSREETRNAA	WRKRGWDENV	YYTVPLVRHM	ESRIMIPLKI	SPLQ