AiPD: Autoinhibited Protein Database

Q9BRP8

Gene name	PYM1
Protein name	Partner of Y14 and mago
Names	PYM homolog 1 exon junction complex-associated factor, Protein wibg homolog
Species	Homo sapiens (Human)
KEGG Pathway	hsa:84305
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-204 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-204 (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 Q9BRP8

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q9BRP8-F1	Predicted				AlphaFoldDB

135 variants for Q9BRP8

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1464584914 CA385199161	2	E>K		No	ClinGen TOPMed gnomAD
rs1483523899 CA385199127	3	A>G		No	ClinGen TOPMed
rs1565720020 CA385199139	3	A>P		No	ClinGen Ensembl
rs1266637800 CA385199100	5	G>C		No	ClinGen TOPMed gnomAD
rs1266637800 CA385199101	5	G>R		No	ClinGen TOPMed gnomAD
rs1218299678 CA385199058	7	P>S		No	ClinGen TOPMed gnomAD
CA6619032 rs763307231	8	A>T		No	ClinGen ExAC gnomAD
CA385199034 rs1170653041	9	A>T		No	ClinGen TOPMed
rs958082954 CA237565989	9	A>V		No	ClinGen TOPMed gnomAD
rs564334054 CA237565983	12	T>R		No	ClinGen 1000Genomes TOPMed gnomAD
TCGA novel	14	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	16	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6618981 rs773714243	17	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs772511038 CA6618980	17	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA385208651 rs1193266192	21	R>*		No	ClinGen gnomAD
rs1261869492 CA385208566	25	T>S		No	ClinGen Ensembl
CA237593610 rs887433411	27	R>C	Variant assessed as Somatic; 4.638e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA385208511 COSM1638299 rs1224536171	27	R>H	Variant assessed as Somatic; impact. bone [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA237593607 COSM941426 rs1048735592	30	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA385208443 rs1478500009	31	R>K		No	ClinGen TOPMed
rs1592633522 CA385208414	32	V>G		No	ClinGen Ensembl
CA6618975 rs780978284	34	E>V		No	ClinGen ExAC
TCGA novel	35	G>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	42	V>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	46	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs762265372 CA6618960	47	N>S		No	ClinGen ExAC gnomAD
TCGA novel	49	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs774899171 CA6618959	54	K>R		No	ClinGen ExAC gnomAD
rs759078144 CA6618957	55	S>N		No	ClinGen ExAC gnomAD
CA385207487 rs1248737637	57	P>S		No	ClinGen TOPMed
CA385207464 rs1396930378	59	L>V		No	ClinGen gnomAD
CA237593275 rs930938562	65	P>H		No	ClinGen TOPMed
VAR_032297 CA6618955 rs3802998	66	E>Q		No	ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
CA385207367 rs1417824269	67	A>V		No	ClinGen TOPMed gnomAD
rs1486391750 CA385207338	69	A>V		No	ClinGen gnomAD
rs369277216 CA6618954	70	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1592633006 CA385207313	72	T>P		No	ClinGen Ensembl
CA6618952 rs201814214	73	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA237593263 rs375888343	76	P>T		No	ClinGen ESP TOPMed gnomAD
rs970590660 CA237593253	80	E>G		No	ClinGen TOPMed gnomAD
CA6618950 rs778909274	80	E>K		No	ClinGen ExAC gnomAD
TCGA novel	83	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA385207159 rs1377374392	84	S>C		No	ClinGen gnomAD
rs564855801 CA6618946	84	S>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA385207136 rs1232365507	86	T>A		No	ClinGen gnomAD
rs1308447685 CA385207132	86	T>I		No	ClinGen TOPMed
rs1461685990 CA385207117	87	A>D		No	ClinGen gnomAD
CA385207090 rs1351337808	89	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs767819119 COSM264700 CA6618944	89	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA385207072 rs1172802362	90	N>K		No	ClinGen gnomAD
CA6618943 rs754792198	92	K>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	93	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA385207052 rs1417564532	93	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA385207045 rs1186452231	94	K>R		No	ClinGen gnomAD
rs1221143409	95	E>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs752072509 CA6618941	98	R>Q		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	98	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA237593219 rs754988438	100	Q>H		No	ClinGen Ensembl
rs1484128238 CA385206972	100	Q>L		No	ClinGen gnomAD
rs1484128238 CA385206976	100	Q>R		No	ClinGen gnomAD
CA385206965 rs369071683	101	Q>*		No	ClinGen ESP TOPMed gnomAD
CA237593218 rs369071683	101	Q>E		No	ClinGen ESP TOPMed gnomAD
rs1681072 CA237593215	102	E>D		No	ClinGen ExAC TOPMed gnomAD
CA6618940 rs764591757	102	E>V		No	ClinGen ExAC gnomAD
rs376008650 CA385206824	110	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA6618935 rs376008650	110	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs771829830 CA6618934	111	R>T		No	ClinGen ExAC TOPMed gnomAD
rs1390965987 CA385206782	113	L>P		No	ClinGen gnomAD
rs768593459 CA6618931	114	D>N		No	ClinGen ExAC gnomAD
CA6618930 rs372715802	115	K>E		No	ClinGen ESP ExAC gnomAD
rs1463486503 CA385206745	116	V>A		No	ClinGen gnomAD
CA6618928 rs769840294	116	V>M		No	ClinGen ExAC gnomAD
CA385206719 rs1181713125	119	E>K		No	ClinGen gnomAD
CA385206656 rs1592632856	123	Q>H		No	ClinGen Ensembl
rs757566795 CA6618925	123	Q>K		No	ClinGen ExAC gnomAD
rs201508467 CA6618924	124	L>H		No	ClinGen ExAC gnomAD
rs201508467 CA385206646	124	L>P		No	ClinGen ExAC gnomAD
rs375476493 CA6618923	126	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA237593177 rs894450315	126	S>R		No	ClinGen Ensembl
CA6618922 rs758932163	126	S>R		No	ClinGen ExAC gnomAD
rs1000165254 CA237593169	127	A>T		No	ClinGen TOPMed
CA385206601 rs1592632836	127	A>V		No	ClinGen Ensembl
rs1333952969 CA385206579	129	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs766046784 CA6618919	131	S>F		No	ClinGen ExAC TOPMed
CA385206549 rs200212914	132	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs372134430 CA6618916	132	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA6618917 rs200212914	132	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	134	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1199423379 CA385206515	135	P>A		No	ClinGen TOPMed
CA237593141 rs899378677	135	P>R		No	ClinGen TOPMed
TCGA novel	136	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6618913 rs768410903	139	S>F		No	ClinGen ExAC TOPMed gnomAD
rs1592632781 CA385206483	140	D>A		No	ClinGen Ensembl
CA6618912 rs775390019	142	P>H		No	ClinGen ExAC TOPMed gnomAD
rs775390019 CA6618911	142	P>L		No	ClinGen ExAC TOPMed gnomAD
CA385206461 rs1592632764	143	D>A		No	ClinGen Ensembl
CA385206451 rs1477928297	145	A>P		No	ClinGen TOPMed
CA385206450 rs1477928297	145	A>S		No	ClinGen TOPMed
rs1169405984 CA385206447	145	A>V		No	ClinGen TOPMed
CA6618910 rs769924482	147	T>I		No	ClinGen ExAC gnomAD
CA385206404 rs1165474221	152	K>R		No	ClinGen gnomAD
CA385206390 rs1158541574	154	I>V		No	ClinGen gnomAD
TCGA novel	155	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA385206373 rs1592632747	156	N>T		No	ClinGen Ensembl
rs375951417 CA385206339	160	K>N		No	ClinGen Ensembl
rs1592632734 CA385206334	161	L>P		No	ClinGen Ensembl
CA6618907 rs781283849	162	R>Q		No	ClinGen ExAC gnomAD
CA237593096 rs940850878	162	R>W		No	ClinGen Ensembl
rs890661890 CA237593080	164	V>M		No	ClinGen gnomAD
CA6618906 rs771135178	165	E>G		No	ClinGen ExAC TOPMed gnomAD
rs771135178 CA385206312	165	E>V		No	ClinGen ExAC TOPMed gnomAD
CA385206280 rs1250827595	170	R>W		No	ClinGen gnomAD
rs747363540 CA6618905	171	I>M		No	ClinGen ExAC gnomAD
rs778238577 CA6618904	173	A>T		No	ClinGen ExAC gnomAD
rs1260717588 CA385206257	173	A>V		No	ClinGen gnomAD
rs1352670017 CA385206245	175	E>D		No	ClinGen TOPMed gnomAD
rs200595422 CA237593051	175	E>G		No	ClinGen Ensembl
rs1262579379 CA385206243	176	V>I		No	ClinGen gnomAD
CA385206221 rs1279852887	179	P>S		No	ClinGen TOPMed
CA6618899 rs374694899	180	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA6618898 rs767109883	181	K>E		No	ClinGen ExAC gnomAD
rs1318023450 CA385206197	182	E>G		No	ClinGen gnomAD
CA385206200 rs1332058982	182	E>Q		No	ClinGen gnomAD
CA385206163 rs1387850668	187	L>V		No	ClinGen TOPMed gnomAD
rs1592632672 CA385206153	189	R>G		No	ClinGen Ensembl
CA237593026 rs1003987636	189	R>T		No	ClinGen TOPMed gnomAD
rs148114178 CA6618896	192	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6618891 rs759555722	196	E>D		No	ClinGen ExAC TOPMed gnomAD
rs1448503298 CA385206099	197	L>V		No	ClinGen gnomAD
CA385206080 rs1210032861	199	D>E		No	ClinGen gnomAD
CA6618890 rs367663912	199	D>N		No	ClinGen ESP ExAC
CA237592994 rs770883293	201	E>K		No	ClinGen ExAC gnomAD
CA6618889 rs770883293	201	E>Q		No	ClinGen ExAC gnomAD
CA385206064 rs1213327078	202	L>V		No	ClinGen TOPMed gnomAD
rs773302734 CA6618887	203	G>S		No	ClinGen ExAC gnomAD

No associated diseases with Q9BRP8

1 regional properties for Q9BRP8

Type	Name	Position	InterPro Accession
domain	WIBG, Mago-binding	12 - 38	IPR015362

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm Nucleus, nucleolus Nucleus, nucleoplasm	Shuttles between the nucleus and the cytoplasm (PubMed:14968132) Nuclear export is mediated by XPO1/CRM1 (PubMed:14968132)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

6 GO annotations of cellular component

Name	Definition
cell junction	A cellular component that forms a specialized region of connection between two or more cells, or between a cell and the extracellular matrix, or between two membrane-bound components of a cell, such as flagella.
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
exon-exon junction complex	A multi-subunit complex deposited by the spliceosome upstream of messenger RNA exon-exon junctions. The exon-exon junction complex provides a binding platform for factors involved in mRNA export and nonsense-mediated mRNA decay.
nucleolus	A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.

2 GO annotations of molecular function

Name	Definition
ribosome binding	Binding to a ribosome.
RNA binding	Binding to an RNA molecule or a portion thereof.

3 GO annotations of biological process

Name	Definition
exon-exon junction complex disassembly	The disaggregation of an exon-exon junction complex into its constituent components.
nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	The nonsense-mediated decay pathway for nuclear-transcribed mRNAs degrades mRNAs in which an amino-acid codon has changed to a nonsense codon; this prevents the translation of such mRNAs into truncated, and potentially harmful, proteins.
positive regulation of translation	Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of proteins by the translation of mRNA or circRNA.

3 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
A6QPH1	PYM1	Partner of Y14 and mago	Bos taurus (Bovine)	PR
Q8CHP5	Pym1	Partner of Y14 and mago	Mus musculus (Mouse)	PR
Q6PH11	pym1	Partner of Y14 and mago	Danio rerio (Zebrafish) (Brachydanio rerio)	PR

10	20	30	40	50	60
MEAAGSPAAT	ETGKYIASTQ	RPDGTWRKQR	RVKEGYVPQE	EVPVYENKYV	KFFKSKPELP
70	80	90	100	110	120
PGLSPEATAP	VTPSRPEGGE	PGLSKTAKRN	LKRKEKRRQQ	QEKGEAEALS	RTLDKVSLEE
130	140	150	160	170	180
TAQLPSAPQG	SRAAPTAASD	QPDSAATTEK	AKKIKNLKKK	LRQVEELQQR	IQAGEVSQPS
190	200
KEQLEKLARR	RALEEELEDL	ELGL