AiPD: Autoinhibited Protein Database

Q9NQE9

Gene name	HINT3
Protein name	Adenosine 5'-monophosphoramidase HINT3
Names	Histidine triad nucleotide-binding protein 3, HINT-3
Species	Homo sapiens (Human)
KEGG Pathway	hsa:135114
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-68 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-68 (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 Q9NQE9

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q9NQE9-F1	Predicted				AlphaFoldDB

152 variants for Q9NQE9

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA365504031 rs1240302901	5	Q>R		No	ClinGen gnomAD
rs1052697427 CA147166082	6	V>G		No	ClinGen Ensembl
CA365504054 rs1284648874	7	N>K		No	ClinGen gnomAD
rs571982659 CA3987399	8	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3987398 rs571982659	8	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA365504081 rs1215071585	9	S>I		No	ClinGen gnomAD
rs1285511399 CA365504073	9	S>R		No	ClinGen TOPMed gnomAD
rs1443290773 CA365504095	10	A>D		No	ClinGen gnomAD
CA365504093 rs1281188500	10	A>S		No	ClinGen gnomAD
CA365504088 rs1281188500	10	A>T		No	ClinGen gnomAD
CA3987400 rs568451027	12	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA365504130 rs1235899515	13	A>V		No	ClinGen gnomAD
rs1441759924 CA365504157	16	C>R		No	ClinGen gnomAD
CA365504193 rs780714215	18	A>D		No	ClinGen gnomAD
rs780714215 CA147166109	18	A>G		No	ClinGen gnomAD
rs1174487408 CA365504187	18	A>T		No	ClinGen TOPMed
rs921477725 CA365504204	19	S>*		No	ClinGen TOPMed
rs921477725 CA147166112	19	S>L		No	ClinGen TOPMed
CA365504230 rs1413649035	22	A>E		No	ClinGen TOPMed gnomAD
rs1172302277 CA365504225	22	A>T		No	ClinGen TOPMed
rs1331925405 CA365504248	24	T>A		No	ClinGen gnomAD
rs932314563 CA147166113	25	T>M		No	ClinGen TOPMed gnomAD
rs932314563 CA365504263	25	T>R		No	ClinGen TOPMed gnomAD
rs780897427 CA3987403	27	S>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	28	S>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA147166120 rs147213100	29	V>L		No	ClinGen 1000Genomes TOPMed gnomAD
CA147166119 rs147213100	29	V>M		No	ClinGen 1000Genomes TOPMed gnomAD
CA365504313 rs1238618773	30	G>E		No	ClinGen gnomAD
rs1257670759 CA365504311	30	G>R		No	ClinGen TOPMed
TCGA novel	31	T>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1277081776 CA365504336	32	C>Y		No	ClinGen gnomAD
rs1346181670 CA365504344	33	E>K		No	ClinGen TOPMed gnomAD
CA147166123 rs978651628	35	A>S		No	ClinGen TOPMed gnomAD
rs978651628 CA365504371	35	A>T		No	ClinGen TOPMed gnomAD
rs2295005 VAR_039734 CA3987405	36	G>A	2.5-fold increase in affinity for indolepropinoic acyl-adenylate and cytosine; 2-fold decrease in hypoxanthine affinity; nearly no change in affinity for adenine, guanine and uracil [UniProt]	No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs2295005 CA365504385	36	G>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs2295005 CA365504386	36	G>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3987406 rs774879956	39	P>L		No	ClinGen ExAC
rs1419891850 CA365504428	39	P>S		No	ClinGen gnomAD
rs868163659 CA147166163	41	P>A		No	ClinGen TOPMed gnomAD
rs868163659 CA147166161	41	P>T		No	ClinGen TOPMed gnomAD
CA365504478 rs1170664709	42	K>*		No	ClinGen gnomAD
CA3987407 rs746337859	42	K>M		No	ClinGen ExAC
rs1170664709 CA365504472	42	K>Q		No	ClinGen gnomAD
CA365504485 rs746337859	42	K>R		No	ClinGen ExAC
CA365504536 rs1583586370	45	D>N		No	ClinGen Ensembl
rs769350443 CA147166202	47	T>A		No	ClinGen Ensembl
CA365504718 rs1333792603	51	C>F		No	ClinGen TOPMed
CA365504734 rs1387964531	52	R>Q		No	ClinGen TOPMed gnomAD
CA365504759 rs1410682117	54	A>P		No	ClinGen TOPMed
rs200559049 CA3987410	55	G>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1320382726 CA365504814	56	R>Q		No	ClinGen gnomAD
CA147166240 rs923286744	56	R>W		No	ClinGen TOPMed gnomAD
rs1257621925 CA365504825	57	Q>*		No	ClinGen gnomAD
CA365504837 rs1211764047	57	Q>H		No	ClinGen TOPMed gnomAD
rs1456587960 CA365504826	57	Q>P		No	ClinGen TOPMed gnomAD
CA365504827 rs1456587960	57	Q>R		No	ClinGen TOPMed gnomAD
rs1236490877 CA365504916	59	P>S		No	ClinGen TOPMed
CA147166244 rs1053251163	63	L>V		No	ClinGen TOPMed gnomAD
CA365505018 rs1207886123	64	L>Q		No	ClinGen TOPMed
rs1169555347 CA365505048	65	H>R		No	ClinGen gnomAD
CA365505027 rs1477996124	65	H>Y		No	ClinGen TOPMed gnomAD
CA147166252 rs1014462759	66	C>F		No	ClinGen TOPMed gnomAD
rs895668347 CA147166249	66	C>S		No	ClinGen Ensembl
CA365505075 rs1014462759	66	C>Y		No	ClinGen TOPMed gnomAD
rs1459097829 CA365505108	67	E>*		No	ClinGen TOPMed gnomAD
rs752349900 CA365508068	68	N>I		No	ClinGen ExAC TOPMed gnomAD
rs752349900 CA3987422	68	N>S		No	ClinGen ExAC TOPMed gnomAD
CA147173784 rs933072922	75	K>Q		No	ClinGen Ensembl
CA365508215 rs1215728969	76	D>G		No	ClinGen gnomAD
rs772622280 CA147173798	77	I>N		No	ClinGen ExAC TOPMed gnomAD
CA3987426 rs772622280	77	I>T		No	ClinGen ExAC TOPMed gnomAD
CA3987425 rs746250111	77	I>V		No	ClinGen ExAC gnomAD
rs377194909 CA3987427	78	K>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3987428 rs747510663	79	P>S		No	ClinGen ExAC gnomAD
TCGA novel	81	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1282577335 CA365508323	82	T>A		No	ClinGen gnomAD
rs1380371789 CA365508326	82	T>I		No	ClinGen TOPMed gnomAD
TCGA novel	82	T>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA365508328 rs1420842772	83	H>N		No	ClinGen gnomAD
rs369239656 CA3987429	83	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1420842772 CA365508332	83	H>Y		No	ClinGen gnomAD
CA365508389 rs1467863087	85	Y>*		No	ClinGen gnomAD
rs1343823990 CA365508380	85	Y>C		No	ClinGen gnomAD
rs776593581 CA3987430	92	H>R		No	ClinGen ExAC
CA3987432 rs554638960	93	I>L		No	ClinGen 1000Genomes ExAC gnomAD
CA3987433 rs114751741	93	I>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3987431 rs554638960	93	I>V		No	ClinGen 1000Genomes ExAC gnomAD
CA3987435 rs766130928	96	C>F		No	ClinGen ExAC gnomAD
rs762735911 CA3987434	96	C>R		No	ClinGen ExAC TOPMed gnomAD
rs762735911 CA365508580	96	C>S		No	ClinGen ExAC TOPMed gnomAD
CA3987436 rs201833844	97	R>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1319185198 CA365508708	100	R>T		No	ClinGen TOPMed
CA3987438 CA365508764 rs767014894	102	D>E		No	ClinGen ExAC TOPMed gnomAD
CA3987440 rs755772437	104	V>A		No	ClinGen ExAC gnomAD
COSM1254185 CA3987439 rs752259987	104	V>I	oesophagus [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
TCGA novel	105	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA365508844 rs1222769508	105	E>G		No	ClinGen TOPMed
rs1483100814 CA365509594	107	V>G		No	ClinGen TOPMed
TCGA novel	108	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA365509601 rs1220112806	108	E>G		No	ClinGen gnomAD
CA3987449 rs748237915	108	E>K		No	ClinGen ExAC gnomAD
CA365509624 rs1457015354	110	M>V		No	ClinGen gnomAD
CA365509651 rs1218477612	112	T>S		No	ClinGen TOPMed
rs769916214 CA3987450	113	V>L		No	ClinGen ExAC gnomAD
CA3987451 rs372560513	115	K>Q		No	ClinGen ESP ExAC gnomAD
CA3987452 rs749563161	115	K>R		No	ClinGen ExAC TOPMed gnomAD
CA3987453 rs145594277	117	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA147177578 rs905275353	119	E>Q		No	ClinGen TOPMed gnomAD
rs774046468 CA3987454	122	N>T		No	ClinGen ExAC gnomAD
CA3987456 rs147740313	126	F>I		No	ClinGen ExAC TOPMed gnomAD
CA3987457 rs199906226	127	T>M		No	ClinGen ExAC TOPMed gnomAD
CA3987459 rs763734703	128	N>S		No	ClinGen ExAC gnomAD
CA3987460 rs377239838	130	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs145709677 CA147179948	131	M>I		No	ClinGen 1000Genomes
CA147179942 rs149760356	131	M>T		No	ClinGen 1000Genomes
rs370635400 CA147179956	132	G>D		No	ClinGen ESP TOPMed
CA3987484 rs755291518	134	H>R		No	ClinGen ExAC TOPMed gnomAD
rs767922040 CA3987485	136	P>S		No	ClinGen ExAC gnomAD
CA365510298 rs1239471829	137	P>R		No	ClinGen gnomAD
rs1183128006 CA365510334	139	C>S		No	ClinGen gnomAD
CA365510333 rs1183128006	139	C>Y		No	ClinGen gnomAD
rs943963042 CA147179963	141	I>V		No	ClinGen TOPMed gnomAD
rs756648725 CA3987487	142	S>F		No	ClinGen ExAC gnomAD
rs1441468677 CA365510412	143	H>R		No	ClinGen gnomAD
CA365510424 rs777764486	144	L>M		No	ClinGen ExAC TOPMed gnomAD
CA3987488 rs777764486	144	L>V		No	ClinGen ExAC TOPMed gnomAD
CA3987489 rs749341560	146	L>F		No	ClinGen ExAC gnomAD
rs757417568 CA3987492	152	V>M		No	ClinGen ExAC TOPMed gnomAD
rs779000488 CA3987493	154	Q>R		No	ClinGen ExAC gnomAD
rs968782678 CA147180012	156	G>S		No	ClinGen Ensembl
TCGA novel	157	F>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA365510730 rs1378401893	159	S>F		No	ClinGen gnomAD
rs1465529904 CA365510739	160	K>E		No	ClinGen TOPMed
CA3987495 rs771967946	160	K>M		No	ClinGen ExAC gnomAD
CA365510755 CA365510752 rs1350552571	160	K>N		No	ClinGen gnomAD
rs780017028 CA3987496	161	L>S		No	ClinGen ExAC gnomAD
rs1203194233 CA365510822	163	Y>*		No	ClinGen gnomAD
rs768715314 CA3987498	163	Y>C		No	ClinGen ExAC gnomAD
rs776144718 CA3987499	164	R>G		No	ClinGen ExAC gnomAD
CA3987500 rs761212828	165	V>A		No	ClinGen ExAC gnomAD
rs577650419 CA3987501	166	N>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs772720084 CA3987502	167	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs772720084 CA147180069	167	S>Y		No	ClinGen ExAC TOPMed gnomAD
CA365510934 rs1174176015	169	W>L		No	ClinGen gnomAD
CA147180077 rs202125498	172	T>I		No	ClinGen gnomAD
rs1393604471 CA365511368	173	A>V		No	ClinGen gnomAD
rs759601933 CA147182382	174	D>H		No	ClinGen gnomAD
rs748153797 CA3987518	175	H>P		No	ClinGen ExAC gnomAD
CA3987517 rs748153797	175	H>R		No	ClinGen ExAC gnomAD
rs780984691 CA3987516	175	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs773941060	180	L>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA

No associated diseases with Q9NQE9

3 regional properties for Q9NQE9

Type	Name	Position	InterPro Accession
conserved_site	Clathrin adaptor, mu subunit, conserved site	157 - 177	IPR018240-1
conserved_site	Clathrin adaptor, mu subunit, conserved site	253 - 267	IPR018240-2
domain	Mu homology domain	157 - 421	IPR028565

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm Nucleus	Localized as aggregates in the cytoplasm and the nucleus
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

2 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
nucleus	A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.

3 GO annotations of molecular function

Name	Definition
adenosine 5'-monophosphoramidase activity	Catalysis of the reaction: adenosine 5'-monophosphoramidate + H2O = AMP + NH4+. Other substrates include AMP-morpholidate, AMP-N-alanine methyl ester and AMP-alpha-acetyl lysine methyl ester.
identical protein binding	Binding to an identical protein or proteins.
nucleotide binding	Binding to a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose.

No GO annotations of biological process

Name	Definition
No GO annotations for biological process

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q7Z2E3	APTX	Aprataxin	Homo sapiens (Human)	PR

10	20	30	40	50	60
MAEEQVNRSA	GLAPDCEASA	TAETTVSSVG	TCEAAGKSPE	PKDYDSTCVF	CRIAGRQDPG
70	80	90	100	110	120
TELLHCENED	LICFKDIKPA	ATHHYLVVPK	KHIGNCRTLR	KDQVELVENM	VTVGKTILER
130	140	150	160	170	180
NNFTDFTNVR	MGFHMPPFCS	ISHLHLHVLA	PVDQLGFLSK	LVYRVNSYWF	ITADHLIEKL

RT