AiPD: Autoinhibited Protein Database

O43294

Gene name	TGFB1I1 (ARA55)
Protein name	Transforming growth factor beta-1-induced transcript 1 protein
Names	Androgen receptor coactivator 55 kDa protein, Androgen receptor-associated protein of 55 kDa, Hydrogen peroxide-inducible clone 5 protein, Hic-5
Species	Homo sapiens (Human)
KEGG Pathway	hsa:7041
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-230 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-230 (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 O43294

Entry ID	Method	Resolution	Chain	Position	Source
AF-O43294-F1	Predicted				AlphaFoldDB

396 variants for O43294

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1012907560 CA280650068	2	E>K		No	ClinGen TOPMed
CA8030103 rs775146665	3	D>G		No	ClinGen ExAC gnomAD
CA8030104 rs746519618	5	D>N		No	ClinGen ExAC
rs759850143 CA8030128	6	A>D		No	ClinGen ExAC gnomAD
CA8030129 rs767968110	8	L>H		No	ClinGen ExAC gnomAD
rs1425077308 CA395742770	8	L>I		No	ClinGen TOPMed gnomAD
rs1555494483 CA395742795	10	D>E		No	ClinGen Ensembl
rs761039640 CA8030131	12	E>A		No	ClinGen ExAC TOPMed gnomAD
rs1011236441 CA280651286	12	E>D		No	ClinGen TOPMed
CA8030132 rs764409775	13	T>S		No	ClinGen ExAC gnomAD
rs371207563 CA280651331	14	T>A		No	ClinGen ESP TOPMed gnomAD
rs757344770 CA8030134	16	S>L		No	ClinGen ExAC TOPMed gnomAD
CA8030136 rs138308548	20	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA8030135 rs138308548	20	R>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA8030137 rs758235388	20	R>S		No	ClinGen ExAC gnomAD
rs138308548 CA395742905	20	R>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA395742928 rs1396248988	22	G>A		No	ClinGen TOPMed
rs1484965766 CA395742940	23	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA8030139 rs751298736	24	P>A		No	ClinGen ExAC gnomAD
rs780766935 CA8030141	25	K>R		No	ClinGen ExAC
COSM1588442 CA8030142 rs747679972 COSM970292	27	R>C	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA8030143 rs769255371	27	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA395742998 rs1252708437	28	P>S		No	ClinGen TOPMed
CA395743012 rs142826505	29	A>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs142826505 CA8030144	29	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	30	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs772448686 CA8030146	31	P>T		No	ClinGen ExAC TOPMed gnomAD
rs775993447 CA280651412	33	T>A		No	ClinGen ExAC TOPMed gnomAD
rs775993447 CA8030147	33	T>P		No	ClinGen ExAC TOPMed gnomAD
rs761049909 CA8030148	34	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA395743080 rs1313349606	35	P>S		No	ClinGen gnomAD
rs769009445 CA8030149	36	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1224524796 CA395743123	38	Y>C		No	ClinGen TOPMed gnomAD
CA395743137 rs1205680467	39	G>A		No	ClinGen gnomAD
CA395743133 rs1445285199	39	G>C		No	ClinGen gnomAD
CA8030151 rs776942248	40	H>P		No	ClinGen ExAC gnomAD
rs762012409 CA8030153	43	Q>E		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	43	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs762173980 CA8030170	44	T>A		No	ClinGen ExAC
TCGA novel	52	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs773407459 CA8030172	53	S>L		No	ClinGen ExAC TOPMed gnomAD
rs1410830223 CA395743313	54	G>E		No	ClinGen gnomAD
rs1334394529 CA395743324	55	D>V		No	ClinGen gnomAD
CA280651684 rs200817061	58	H>D		No	ClinGen 1000Genomes
rs1303284685 CA395743411 CA395743409	61	S>R		No	ClinGen TOPMed gnomAD
rs201803234 COSM1377658 CA8030185 COSM1377659	62	T>M	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs1230690762 CA395743430	64	C>G		No	ClinGen TOPMed gnomAD
rs781727248 CA8030186	64	C>Y		No	ClinGen ExAC gnomAD
CA395743451 rs1269587182	66	P>T		No	ClinGen gnomAD
CA8030187 rs748518866	67	R>Q		No	ClinGen ExAC gnomAD
CA280651807 rs905493369	69	P>S		No	ClinGen Ensembl
CA8030188 rs770058334	71	P>L		No	ClinGen ExAC gnomAD
rs375566928 CA8030189	73	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs749416534 CA8030190	74	P>L		No	ClinGen ExAC TOPMed gnomAD
rs371525370 CA280651869	75	A>G		No	ClinGen ExAC TOPMed gnomAD
CA8030192 rs371525370	75	A>V		No	ClinGen ExAC TOPMed gnomAD
rs149961993 CA8030193	76	A>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs149961993 CA8030194	76	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA280651887 rs1013740108	77	P>L		No	ClinGen TOPMed
TCGA novel	78	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA395743597 COSM1147684 COSM703125 rs1388865618	80	S>F	lung Variant assessed as Somatic; 4.619e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA8030195 rs775273233	81	S>T		No	ClinGen ExAC gnomAD
CA395743632 rs144130252	83	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA8030196 rs144130252	83	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA8030197 rs763826413	83	S>N		No	ClinGen ExAC TOPMed gnomAD
COSM3690717 CA8030198 COSM3690718 rs753388681	83	S>R	large_intestine Variant assessed as Somatic; 9.239e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs199836545 CA395743647	84	G>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM1377661 rs199836545 CA8030200 COSM1377660	84	G>S	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA395743677 rs1306225425	86	L>F		No	ClinGen TOPMed
CA395743679 rs1385750457	87	G>S		No	ClinGen gnomAD
CA280651924 rs1005893440	88	T>S		No	ClinGen TOPMed
CA8030203 rs558788092 CA395744262	89	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA395744267 rs140328458	90	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA8030204 rs140328458	90	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA395744281 rs1315431992	92	E>Q		No	ClinGen gnomAD
rs756394414 CA8030205	94	D>G		No	ClinGen ExAC gnomAD
rs749523072 CA8030207	95	R>Q		No	ClinGen ExAC gnomAD
COSM1229077 rs778169254 CA8030206 COSM970294	95	R>W	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
COSM1588440 rs1451044520 CA395744311 COSM970295	97	L>F	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1393239805 CA395744332	100	L>I		No	ClinGen TOPMed
rs1175416155 CA395744355	102	A>D		No	ClinGen TOPMed
rs201769874 CA8030210	103	T>S		No	ClinGen 1000Genomes ExAC gnomAD
rs562455664 CA8030211	107	I>T		No	ClinGen 1000Genomes ExAC
CA395744505 rs1567382493	109	D>E		No	ClinGen Ensembl
rs1364063505 CA395744551	112	M>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA395744632 rs1567382504	118	S>R		No	ClinGen Ensembl
rs988819276 CA280653421	121	A>S		No	ClinGen TOPMed gnomAD
rs988819276 CA395744647	121	A>T		No	ClinGen TOPMed gnomAD
rs1212242044 CA395744677	125	Q>H		No	ClinGen TOPMed
rs963977092 CA280653437	125	Q>R		No	ClinGen TOPMed gnomAD
rs1446990702 CA395744683	126	K>R		No	ClinGen TOPMed
TCGA novel	126	K>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs45475699 VAR_032831 CA8030230	129	Q>H		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
TCGA novel	132	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1596611676 CA395744733	133	K>E		No	ClinGen Ensembl
rs1176986132 CA395744738	133	K>N		No	ClinGen gnomAD
rs1358537069 CA395744744	134	K>R		No	ClinGen gnomAD
CA8030231 rs768622256	135	R>S		No	ClinGen ExAC gnomAD
rs202110011 CA395744755	136	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8030232 rs202110011	136	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1042788192 CA280653491	137	S>N		No	ClinGen Ensembl
CA8030233 rs761600660	137	S>R		No	ClinGen ExAC
CA8030260 rs777159735	139	P>L		No	ClinGen ExAC gnomAD
CA395744792 rs762273047	140	S>C		No	ClinGen ExAC TOPMed gnomAD
CA8030261 rs762273047	140	S>F		No	ClinGen ExAC TOPMed gnomAD
CA8030262 rs142547916	142	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8030263 rs142547916	142	P>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA280653704 rs142547916	142	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1486924547 CA395744805	143	S>P		No	ClinGen gnomAD
CA280653726 rs373889382	146	L>F		No	ClinGen ESP
rs868467060 CA280653732	146	L>P		No	ClinGen Ensembl
CA280653742 rs751603714	149	A>P		No	ClinGen ExAC TOPMed gnomAD
rs751603714 CA8030267	149	A>S		No	ClinGen ExAC TOPMed gnomAD
CA8030266 rs751603714	149	A>T		No	ClinGen ExAC TOPMed gnomAD
CA8030268 rs781021877	152	T>P		No	ClinGen ExAC gnomAD
COSM129687 rs756109174 CA8030270	153	S>L	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs748145150 CA8030269	153	S>P		No	ClinGen ExAC gnomAD
CA395744876 rs1163702396	156	L>M		No	ClinGen gnomAD
rs777778513 CA8030271	156	L>P		No	ClinGen ExAC gnomAD
rs749026145 CA8030272	157	E>A		No	ClinGen ExAC TOPMed gnomAD
rs1432292547 CA395744880	157	E>K		No	ClinGen gnomAD
rs964124541 CA280653769	158	L>P		No	ClinGen Ensembl
rs566571521 CA8030274	159	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA395744907 rs1433589698	161	L>R		No	ClinGen gnomAD
CA8030276 rs745404617	162	M>K		No	ClinGen ExAC TOPMed gnomAD
CA8030275 rs745404617	162	M>R		No	ClinGen ExAC TOPMed gnomAD
rs774955875 CA8030277	163	A>T		No	ClinGen ExAC gnomAD
CA8030278 rs762362766	163	A>V		No	ClinGen ExAC gnomAD
rs765726712 CA8030279	164	S>L		No	ClinGen ExAC gnomAD
CA8030280 rs376501973	165	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs201816619 CA8030282	167	D>G		No	ClinGen 1000Genomes ExAC
rs1188153583 CA395744962	168	F>L		No	ClinGen TOPMed gnomAD
rs751764911 CA8030284	169	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA8030283 rs751764911	169	R>G		No	ClinGen ExAC TOPMed gnomAD
CA8030285 rs376972598	169	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA395744966 rs751764911	169	R>S		No	ClinGen ExAC TOPMed gnomAD
rs1162207352 CA395744974	170	V>I		No	ClinGen gnomAD
rs1411222432 CA395745012	173	H>N		No	ClinGen gnomAD
rs1302550185 CA395745108	175	P>S		No	ClinGen TOPMed
CA8030303 rs574453051	176	A>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA395745163 rs1443204221	177	S>C		No	ClinGen gnomAD
rs767567482 CA8030304	179	P>S		No	ClinGen ExAC TOPMed gnomAD
rs767567482 CA8030305	179	P>T		No	ClinGen ExAC TOPMed gnomAD
CA8030306 rs760785489	180	T>A		No	ClinGen ExAC gnomAD
rs1285073656 CA395745215	180	T>N		No	ClinGen gnomAD
rs1454875330 CA395745234	182	P>A		No	ClinGen gnomAD
rs1345592744 CA395745240	182	P>Q		No	ClinGen gnomAD
rs764155856 CA8030308	183	P>A		No	ClinGen ExAC gnomAD
COSM1140968 CA8030309 COSM557875 rs757123886	183	P>L	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA8030307 rs764155856	183	P>S		No	ClinGen ExAC gnomAD
CA280654114 rs925272943	184	V>M		No	ClinGen TOPMed gnomAD
rs1250629949 CA395745297	185	V>E		No	ClinGen gnomAD
rs758076461 CA8030312	187	S>A		No	ClinGen ExAC gnomAD
rs1567382837 CA395745344	187	S>C		No	ClinGen Ensembl
CA395745392 rs1200992915	190	E>K		No	ClinGen gnomAD
CA8030313 rs370388162	191	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1477973777 CA395745435	192	S>F		No	ClinGen gnomAD
CA8030316 rs768116219	194	S>P		No	ClinGen ExAC TOPMed gnomAD
CA280654157 rs868852826	195	P>L		No	ClinGen Ensembl
rs541970394 CA8030317	196	P>L		No	ClinGen 1000Genomes ExAC gnomAD
rs1307600356 CA395745472	196	P>S		No	ClinGen gnomAD
CA395745482 rs1407039633	197	E>Q		No	ClinGen gnomAD
CA8030318 rs749864372	198	P>L		No	ClinGen ExAC TOPMed gnomAD
rs749864372 CA280654175	198	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA280654170 rs150278208	198	P>S		No	ClinGen ESP gnomAD
CA8030320 rs774780961	199	T>S		No	ClinGen ExAC gnomAD
rs1228893388 CA395745552	202	G>S		No	ClinGen gnomAD
rs760945013 CA8030324	206	T>P		No	ClinGen ExAC gnomAD
CA395745621 rs1267438499	207	M>I		No	ClinGen gnomAD
rs929634470 CA280654227	207	M>T		No	ClinGen TOPMed
rs1224308821 CA395745617	207	M>V		No	ClinGen gnomAD
rs753852947 CA8030326	211	L>P		No	ClinGen ExAC gnomAD
CA395745649 rs761880561	212	Q>L		No	ClinGen ExAC gnomAD
CA8030327 rs761880561	212	Q>P		No	ClinGen ExAC gnomAD
CA8030328 rs765019917	213	S>C		No	ClinGen ExAC TOPMed gnomAD
rs765019917 COSM3948515 CA395745661 COSM3948516	213	S>F	ovary [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs374512418 CA395745665	214	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA8030330 rs374512418	214	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	215	L>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8030334 rs754603348	217	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs199879867 CA8030335	217	R>H		No	ClinGen ExAC TOPMed gnomAD
rs771480843 CA8030337	218	R>Q		No	ClinGen ExAC gnomAD
CA8030336 rs747543684	218	R>W		No	ClinGen ExAC gnomAD
CA8030338 rs779236450	219	G>S		No	ClinGen ExAC gnomAD
rs554478619 CA8030339	219	G>V		No	ClinGen ExAC gnomAD
TCGA novel	221	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1410885118 CA395745790	222	T>I		No	ClinGen TOPMed
rs1354983429 CA395745806	223	Q>*		No	ClinGen TOPMed gnomAD
rs1354983429 CA395745809	223	Q>E		No	ClinGen TOPMed gnomAD
CA280654329 rs368897293	223	Q>H		No	ClinGen ESP gnomAD
rs1263274748 CA395745831	224	A>D		No	ClinGen gnomAD
rs772601931 CA8030340	224	A>P		No	ClinGen ExAC
rs1263274748 CA395745833	224	A>V		No	ClinGen gnomAD
rs775971821 CA8030341	225	K>R		No	ClinGen ExAC gnomAD
rs775971821 CA395745842	225	K>T		No	ClinGen ExAC gnomAD
rs1188550847 CA395745866	226	G>A		No	ClinGen TOPMed gnomAD
rs1437056692 CA395745859	226	G>C		No	ClinGen TOPMed
CA395745861 rs1188550847	226	G>D		No	ClinGen TOPMed gnomAD
CA395745855 rs1437056692	226	G>S		No	ClinGen TOPMed
CA395745867 rs1188550847	226	G>V		No	ClinGen TOPMed gnomAD
CA8030343 rs768999295	229	G>S		No	ClinGen ExAC TOPMed gnomAD
CA8030346 rs761744129	231	C>*		No	ClinGen ExAC gnomAD
rs776780669 CA8030345	231	C>R		No	ClinGen ExAC TOPMed gnomAD
CA280654374 rs150264181	232	N>S		No	ClinGen 1000Genomes
CA8030347 rs765244873	233	K>T		No	ClinGen ExAC TOPMed gnomAD
rs370678965 CA8030348	234	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs762846575 CA8030350	235	I>L		No	ClinGen ExAC TOPMed gnomAD
CA280654407 rs1039534374	235	I>M		No	ClinGen Ensembl
rs762846575 CA8030349	235	I>V		No	ClinGen ExAC TOPMed gnomAD
CA8030351 rs751350967	238	Q>H		No	ClinGen ExAC gnomAD
CA395746841 rs1482748506	240	V>L		No	ClinGen gnomAD
CA8030369 rs759276207	241	T>M		No	ClinGen ExAC gnomAD
TCGA novel	244	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1176789345 CA395746877	244	G>D		No	ClinGen gnomAD
CA8030370 rs767229521	246	A>S		No	ClinGen ExAC TOPMed gnomAD
CA395746913 rs1567383477	248	H>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1410786763 CA395746909	248	H>Y		No	ClinGen TOPMed
CA280655224 rs949944209	249	P>S		No	ClinGen TOPMed gnomAD
rs752330093 CA8030371	250	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA395746932 rs1305615319	251	H>P		No	ClinGen gnomAD
TCGA novel	251	H>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1220308504 CA395746945	253	V>F		No	ClinGen gnomAD
COSM1722792 COSM1722793 rs1310763010 CA395746960	255	G>R	Variant assessed as Somatic; 0.0 impact. NS [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA395746982 rs1231118651	257	C>S		No	ClinGen gnomAD
CA395746999 rs1341700045	259	T>A		No	ClinGen gnomAD
CA8030374 rs367688614	259	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA395746995 rs1341700045	259	T>P		No	ClinGen gnomAD
CA395747011 rs1488851649	260	A>D		No	ClinGen TOPMed gnomAD
CA280655266 rs868502875	260	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs368708090 CA8030377	263	G>S		No	ClinGen ESP ExAC gnomAD
CA280655283 rs906626359	264	S>N		No	ClinGen TOPMed
CA395747071 rs1256734600	265	S>I		No	ClinGen TOPMed
CA395747072 rs1256734600	265	S>T		No	ClinGen TOPMed
CA395747153 rs1390607787	269	K>N		No	ClinGen TOPMed gnomAD
CA280655294 rs372284661	270	D>N		No	ClinGen ESP TOPMed gnomAD
COSM1664544 rs1047984853 COSM1664543 CA280655295	271	G>V	kidney [Cosmic]	No	ClinGen cosmic curated Ensembl
CA8030380 rs781590074	273	P>L		No	ClinGen ExAC gnomAD
CA395747238 rs1214430699	274	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs777718266 CA8030384	278	C>W		No	ClinGen ExAC gnomAD
rs1055109331 CA280655342	278	C>Y		No	ClinGen TOPMed
rs770876572 CA8030386	282	R>C		No	ClinGen ExAC gnomAD
rs774230775 CA395747368	282	R>H		No	ClinGen ExAC gnomAD
rs774230775 CA8030387	282	R>P		No	ClinGen ExAC gnomAD
rs759435542 CA8030388	283	F>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs771809181 CA8030389	284	S>W		No	ClinGen ExAC gnomAD
rs1220967419 CA395747428	286	R>I		No	ClinGen gnomAD
rs886569138 CA280655364	287	C>R		No	ClinGen TOPMed gnomAD
rs886569138 CA280655372	287	C>S		No	ClinGen TOPMed gnomAD
CA395747451 rs1263797595	288	G>D		No	ClinGen gnomAD
rs1467066781 CA395747486	291	N>D		No	ClinGen gnomAD
CA8030390 rs775339160	292	Q>H		No	ClinGen ExAC gnomAD
rs1596612698 CA395747530	295	R>L		No	ClinGen Ensembl
TCGA novel	300	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs561295563 CA280655553	300	T>S		No	ClinGen Ensembl
rs1442795619 CA395747731	305	H>R		No	ClinGen gnomAD
CA8030417 rs756459389	306	W>C		No	ClinGen ExAC TOPMed gnomAD
rs1168755380 CA395747738	306	W>R		No	ClinGen TOPMed
CA8030419 rs778078477	307	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA395747794 rs1182228929	309	E>G		No	ClinGen gnomAD
CA395747789 rs1596612931	309	E>K		No	ClinGen Ensembl
CA8030420 rs754106103	310	H>R		No	ClinGen ExAC gnomAD
rs1596612937 CA395747855	313	C>Y		No	ClinGen Ensembl
rs779026921 CA8030422	314	V>F		No	ClinGen ExAC TOPMed gnomAD
CA395747865 rs779026921	314	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1434149535 CA395747884	315	S>T		No	ClinGen TOPMed
CA8030424 rs758286025	318	E>D		No	ClinGen ExAC gnomAD
TCGA novel	318	E>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM3817912 CA280655668 rs930641743 CA395747954 COSM3817911	320	F>L	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD NCI-TCGA
rs779997127 CA395747958	321	G>*		No	ClinGen ExAC
rs779997127 CA8030425	321	G>R		No	ClinGen ExAC
rs1197485860 CA395747975	322	D>G		No	ClinGen gnomAD
rs746813814 CA8030426	324	G>S		No	ClinGen ExAC gnomAD
rs1290032657 CA395748054	325	F>S		No	ClinGen gnomAD
rs374624543 CA8030448	327	E>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA8030450 rs769592401	327	E>G		No	ClinGen ExAC TOPMed gnomAD
rs374624543 CA395748079	327	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs374624543 CA8030449	327	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs772880390 CA8030451	328	R>G		No	ClinGen ExAC gnomAD
rs1459679177 CA395748108	329	E>*		No	ClinGen TOPMed gnomAD
CA395748104 rs1459679177	329	E>K		No	ClinGen TOPMed gnomAD
rs1596613127 CA395748158	333	Y>S		No	ClinGen Ensembl
rs761308402 CA8030455	334	C>Y		No	ClinGen ExAC gnomAD
rs764513406 CA395748188	335	R>H		No	ClinGen ExAC TOPMed gnomAD
CA8030456 rs764513406	335	R>P		No	ClinGen ExAC TOPMed gnomAD
rs1296362506 CA395748197	336	R>W		No	ClinGen gnomAD
rs1246611864 CA395748205	337	D>H		No	ClinGen gnomAD
CA280656137 rs918048187	340	Q>*		No	ClinGen Ensembl
TCGA novel	340	Q>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1212306772 CA395748287	343	A>S		No	ClinGen gnomAD
rs750700800 CA8030460	343	A>V		No	ClinGen ExAC gnomAD
CA8030461 rs781372692	344	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	344	P>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs983501037 CA280656150	345	R>C		No	ClinGen TOPMed
rs1208466519 CA395748309	345	R>L		No	ClinGen gnomAD
CA395748313 rs1208466519	345	R>P		No	ClinGen gnomAD
rs1260147147 CA395748333	347	Q>*		No	ClinGen gnomAD
rs1294823224 CA395748337	347	Q>R		No	ClinGen TOPMed
CA8030462 rs766540728	348	G>S		No	ClinGen ExAC gnomAD
CA280656177 rs376191730	350	Q>*		No	ClinGen ESP gnomAD
rs1474272513 CA395748384	351	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA280656184 rs866904223	352	P>H		No	ClinGen TOPMed gnomAD
CA280656185 rs866904223	352	P>R		No	ClinGen TOPMed gnomAD
rs370830608 CA8030463	352	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA8030464 rs754971293	354	L>V		No	ClinGen ExAC TOPMed gnomAD
CA395748420 rs1334420938	355	D>A		No	ClinGen gnomAD
CA395748422 rs1351945007	355	D>E		No	ClinGen TOPMed
rs1397351826 CA395748416	355	D>H		No	ClinGen gnomAD
rs1354215950 CA395748442	357	Y>C		No	ClinGen gnomAD
rs1596613205 CA395748457	358	I>T		No	ClinGen Ensembl
CA8030466 rs752570684	361	L>F		No	ClinGen ExAC gnomAD
CA395748485 rs752570684	361	L>V		No	ClinGen ExAC gnomAD
rs373942027 CA8030467	362	S>I		No	ClinGen ESP ExAC gnomAD
CA395748504 rs1484445112	362	S>R		No	ClinGen gnomAD
rs1201191753 CA395748517	363	A>V		No	ClinGen gnomAD
rs1429726129 CA395748545	365	W>C		No	ClinGen TOPMed
CA395748569 rs770482800	367	P>Q		No	ClinGen ExAC gnomAD
rs770482800 CA8030470	367	P>R		No	ClinGen ExAC gnomAD
rs368086812 CA8030469	367	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA280656217 rs942266367	368	D>G		No	ClinGen Ensembl
CA8030471 rs200203563	368	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA395748597 rs1596613249	369	C>S		No	ClinGen Ensembl
CA8030472 rs745321187	370	F>L		No	ClinGen ExAC
rs529222239 CA8030473	371	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8030475 rs762281242	372	C>*		No	ClinGen ExAC TOPMed gnomAD
rs777086464 CA8030474	372	C>Y		No	ClinGen ExAC TOPMed gnomAD
rs1412597286 CA395748655	373	R>K		No	ClinGen gnomAD
CA395748653 rs1374444831	373	R>W		No	ClinGen gnomAD
rs1267354863 CA395748722	374	E>D		No	ClinGen gnomAD
CA395748711 rs1437522408	374	E>K		No	ClinGen gnomAD
rs1202490151 CA395748717	374	E>V		No	ClinGen gnomAD
CA395748724 rs1567384374	375	C>S		No	ClinGen Ensembl
CA280656695 rs922219471	375	C>Y		No	ClinGen TOPMed
rs1210431638 CA395748759	377	A>T		No	ClinGen gnomAD
rs1167485120 CA395748771	377	A>V		No	ClinGen TOPMed
rs771612726 CA8030494	378	P>S		No	ClinGen ExAC gnomAD
CA395748804 rs1427594044	381	G>A		No	ClinGen TOPMed gnomAD
CA395748802 rs1427594044	381	G>E		No	ClinGen TOPMed gnomAD
rs748716102 CA8030496	384	F>C		No	ClinGen ExAC TOPMed gnomAD
CA8030497 rs770198654	385	F>L		No	ClinGen ExAC gnomAD
TCGA novel	386	E>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1432993582 CA395748838	386	E>A		No	ClinGen TOPMed
CA395748847 rs1458808352	387	H>Q		No	ClinGen gnomAD
rs773630238 CA395748855	388	E>D		No	ClinGen ExAC gnomAD
CA8030500 rs763171471	390	R>H		No	ClinGen ExAC gnomAD
rs1361503948 CA395748869	391	P>A		No	ClinGen gnomAD
CA8030503 rs759807195	394	E>K		No	ClinGen ExAC gnomAD
TCGA novel	395	N>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8030504 rs143272436	396	H>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1214183636 CA395748915	397	F>S		No	ClinGen gnomAD
rs1203127354 CA395748925	398	H>Q		No	ClinGen TOPMed
rs1466938869 CA395748927	399	A>T		No	ClinGen gnomAD
rs752819867 CA8030505	400	R>*		No	ClinGen ExAC gnomAD
rs1242535673 CA395748935	400	R>P		No	ClinGen gnomAD
rs1184478241 CA395748939	401	R>G		No	ClinGen gnomAD
rs1415264862 CA395748940	401	R>H		No	ClinGen TOPMed gnomAD
rs535339492 CA395748943 COSM1749588 COSM1749589	402	G>R	urinary_tract [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs535339492 CA8030507	402	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8030509 rs756958379	406	A>S		No	ClinGen ExAC gnomAD
rs765052954 CA8030510	406	A>V		No	ClinGen ExAC gnomAD
CA395748991 rs1341192333	410	L>F		No	ClinGen TOPMed gnomAD
rs758036074 CA8030513	411	P>S		No	ClinGen ExAC gnomAD
CA280656877 rs995462262	412	V>E		No	ClinGen TOPMed
CA395749002 rs1346089998	412	V>M		No	ClinGen TOPMed
rs200132046 CA8030514	414	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA395749023 rs1291558007	415	R>L		No	ClinGen gnomAD
CA395749029 rs1230210215	416	C>F		No	ClinGen TOPMed gnomAD
rs1332555132 CA395749026	416	C>G		No	ClinGen gnomAD
rs1567384516 CA395749042	418	S>W		No	ClinGen Ensembl
rs1375568900 CA395749047	419	A>V		No	ClinGen TOPMed
CA8030516 rs148043814	422	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA8030517 rs148043814	422	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA395749071 rs1316137331	424	F>L		No	ClinGen gnomAD
CA395749080 rs1213154896	425	H>Y		No	ClinGen gnomAD
CA395749088 rs1180599824	426	P>A		No	ClinGen TOPMed
rs1596613679 CA395749090	426	P>Q		No	ClinGen Ensembl
CA280656927 rs879662683	428	H>R		No	ClinGen Ensembl
CA395749121 rs1186584630	430	T>I		No	ClinGen TOPMed gnomAD
CA280656969 rs141725751	433	F>L		No	ClinGen ESP
rs1160562333 CA395749152	435	L>V		No	ClinGen gnomAD
CA280656970 rs371811052	436	R>S		No	ClinGen Ensembl
rs1225123394 CA395749166	437	P>R		No	ClinGen TOPMed
CA8030521 rs771247221	439	T>A		No	ClinGen ExAC gnomAD
rs1359926662 CA395749185	440	K>N		No	ClinGen TOPMed gnomAD
rs1178451098 CA395749179	440	K>Q		No	ClinGen gnomAD
rs774843120 CA395749223	446	R>C		No	ClinGen ExAC gnomAD
rs774843120 CA8030522	446	R>S		No	ClinGen ExAC gnomAD
rs1221829945 CA395749265	452	C>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1000574636 CA280657006	453	Q>R		No	ClinGen Ensembl
CA395749305 rs1277490646	458	K>E		No	ClinGen gnomAD
rs1012475239 CA395749313	459	L>F		No	ClinGen gnomAD
rs1012475239 CA280657040	459	L>V		No	ClinGen gnomAD
rs150598792 CA8030527	460	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA8030529 rs761790688	461	G>D		No	ClinGen ExAC gnomAD
CA395749325 rs1406433228	461	G>R		No	ClinGen gnomAD
rs750218964 CA8030531	462	G>C		No	ClinGen ExAC gnomAD
CA8030530 rs765078641	462	G>R		No	ClinGen ExAC gnomAD

No associated diseases with O43294

5 regional properties for O43294

Type	Name	Position	InterPro Accession
domain	Zinc finger, LIM-type	226 - 285	IPR001781-1
domain	Zinc finger, LIM-type	286 - 343	IPR001781-2
domain	Zinc finger, LIM-type	344 - 403	IPR001781-3
domain	Zinc finger, LIM-type	404 - 461	IPR001781-4
domain	Paxillin/TGFB1I1, LIM domain 1	228 - 280	IPR047075

Functions

		Description
EC Number
Subcellular Localization	Cell junction, focal adhesion Nucleus matrix Cytoplasm, cytoskeleton	Associated with the actin cytoskeleton; colocalizes with stress fibers
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

5 GO annotations of cellular component

Name	Definition
cytoskeleton	A cellular structure that forms the internal framework of eukaryotic and prokaryotic cells. The cytoskeleton includes intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
focal adhesion	A cell-substrate junction that anchors the cell to the extracellular matrix and that forms a point of termination of actin filaments. In insects focal adhesion has also been referred to as hemi-adherens junction (HAJ).
nuclear matrix	The dense fibrillar network lying on the inner side of the nuclear membrane.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

6 GO annotations of molecular function

Name	Definition
I-SMAD binding	Binding to an inhibitory SMAD signaling protein.
metal ion binding	Binding to a metal ion.
nuclear androgen receptor binding	Binding to a nuclear androgen receptor.
Roundabout binding	Binding to Roundabout (ROBO) receptor, a transmembrane receptor.
transcription coactivator activity	A transcription coregulator activity that activates or increases the transcription of specific gene sets via binding to a DNA-bound DNA-binding transcription factor, either on its own or as part of a complex. Coactivators often act by altering chromatin structure and modifications. For example, one class of transcription coactivators modifies chromatin structure through covalent modification of histones. A second class remodels the conformation of chromatin in an ATP-dependent fashion. A third class modulates interactions of DNA-bound DNA-binding transcription factors with other transcription coregulators. A fourth class of coactivator activity is the bridging of a DNA-binding transcription factor to the general (basal) transcription machinery. The Mediator complex, which bridges sequence-specific DNA binding transcription factors and RNA polymerase, is also a transcription coactivator.
transcription coregulator activity	A transcription regulator activity that modulates the transcription of specific gene sets via binding to a DNA-bound DNA-binding transcription factor, either on its own or as part of a complex. Coregulators often act by altering chromatin structure and modifications. For example, one class of transcription coregulators modifies chromatin structure through covalent modification of histones. A second class remodels the conformation of chromatin in an ATP-dependent fashion. A third class modulates interactions of DNA-bound DNA-binding transcription factors with other transcription coregulators.

13 GO annotations of biological process

Name	Definition
cell adhesion	The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules.
cell fate commitment	The commitment of cells to specific cell fates and their capacity to differentiate into particular kinds of cells. Positional information is established through protein signals that emanate from a localized source within a cell (the initial one-cell zygote) or within a developmental field.
epithelial cell differentiation	The process in which a relatively unspecialized cell acquires specialized features of an epithelial cell, any of the cells making up an epithelium.
fat cell differentiation	The process in which a relatively unspecialized cell acquires specialized features of an adipocyte, an animal connective tissue cell specialized for the synthesis and storage of fat.
morphogenesis of embryonic epithelium	The process in which the anatomical structures of embryonic epithelia are generated and organized.
negative regulation of cell population proliferation	Any process that stops, prevents or reduces the rate or extent of cell proliferation.
negative regulation of fat cell differentiation	Any process that stops, prevents, or reduces the frequency, rate or extent of adipocyte differentiation.
negative regulation of transforming growth factor beta receptor signaling pathway	Any process that stops, prevents, or reduces the frequency, rate or extent of any TGF-beta receptor signaling pathway.
positive regulation of DNA-templated transcription	Any process that activates or increases the frequency, rate or extent of cellular DNA-templated transcription.
positive regulation of epithelial to mesenchymal transition	Any process that increases the rate, frequency, or extent of epithelial to mesenchymal transition. Epithelial to mesenchymal transition is where an epithelial cell loses apical/basolateral polarity, severs intercellular adhesive junctions, degrades basement membrane components and becomes a migratory mesenchymal cell.
positive regulation of transforming growth factor beta receptor signaling pathway	Any process that activates or increases the frequency, rate or extent of TGF-beta receptor signaling pathway activity.
ubiquitin-dependent SMAD protein catabolic process	The chemical reactions and pathways resulting in the breakdown of SMAD signaling proteins by ubiquitination and targeting to the proteasome.
Wnt signaling pathway	The series of molecular signals initiated by binding of a Wnt protein to a frizzled family receptor on the surface of the target cell and ending with a change in cell state.

10 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q3SYZ8	PDLIM3	PDZ and LIM domain protein 3	Bos taurus (Bovine)	PR
P49024	PXN	Paxillin	Gallus gallus (Chicken)	PR
Q9PU47	PDLIM3	PDZ and LIM domain protein 3	Gallus gallus (Chicken)	PR
Q53GG5	PDLIM3	PDZ and LIM domain protein 3	Homo sapiens (Human)	PR
P49023	PXN	Paxillin	Homo sapiens (Human)	PR
O70209	Pdlim3	PDZ and LIM domain protein 3	Mus musculus (Mouse)	PR
Q8VI36	Pxn	Paxillin	Mus musculus (Mouse)	PR
Q62219	Tgfb1i1	Transforming growth factor beta-1-induced transcript 1 protein	Mus musculus (Mouse)	PR
Q6QGC0	PDLIM3	PDZ and LIM domain protein 3	Sus scrofa (Pig)	PR
Q66H76	Pxn	Paxillin	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MEDLDALLSD	LETTTSHMPR	SGAPKERPAE	PLTPPPSYGH	QPQTGSGESS	GASGDKDHLY
70	80	90	100	110	120
STVCKPRSPK	PAAPAAPPFS	SSSGVLGTGL	CELDRLLQEL	NATQFNITDE	IMSQFPSSKV
130	140	150	160	170	180
ASGEQKEDQS	EDKKRPSLPS	SPSPGLPKAS	ATSATLELDR	LMASLSDFRV	QNHLPASGPT
190	200	210	220	230	240
QPPVVSSTNE	GSPSPPEPTG	KGSLDTMLGL	LQSDLSRRGV	PTQAKGLCGS	CNKPIAGQVV
250	260	270	280	290	300
TALGRAWHPE	HFVCGGCSTA	LGGSSFFEKD	GAPFCPECYF	ERFSPRCGFC	NQPIRHKMVT
310	320	330	340	350	360
ALGTHWHPEH	FCCVSCGEPF	GDEGFHEREG	RPYCRRDFLQ	LFAPRCQGCQ	GPILDNYISA
370	380	390	400	410	420
LSALWHPDCF	VCRECFAPFS	GGSFFEHEGR	PLCENHFHAR	RGSLCATCGL	PVTGRCVSAL
430	440	450	460
GRRFHPDHFT	CTFCLRPLTK	GSFQERAGKP	YCQPCFLKLF	G