AiPD: Autoinhibited Protein Database

Q01995

Gene name	TAGLN (SM22, WS3-10)
Protein name	Transgelin
Names	22 kDa actin-binding protein, Protein WS3-10, Smooth muscle protein 22-alpha, SM22-alpha
Species	Homo sapiens (Human)
KEGG Pathway	hsa:6876
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-109 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-109 (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 Q01995

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q01995-F1	Predicted				AlphaFoldDB

175 variants for Q01995

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1246995119	1	M>?	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA6292370 rs763073346	2	A>T		No	ClinGen ExAC gnomAD
rs1242207522 CA382718239	3	N>K		No	ClinGen gnomAD
rs766675953 CA6292371	3	N>S		No	ClinGen ExAC gnomAD
rs775120629 CA6292372	5	G>D		No	ClinGen ExAC gnomAD
rs1463325807 CA382718440	8	Y>C		No	ClinGen TOPMed gnomAD
rs1388179915 CA382718471	9	G>D		No	ClinGen gnomAD
CA382718564 rs1373526699	10	M>I		No	ClinGen TOPMed
rs1433245880 CA382718531	10	M>T		No	ClinGen gnomAD
rs1461342630 CA382718511	10	M>V		No	ClinGen TOPMed
CA229352126 rs199732351	12	R>C		No	ClinGen TOPMed gnomAD
rs941045023 CA229352129	12	R>H		No	ClinGen Ensembl
CA6292377 rs757261916 CA382718686	13	E>D		No	ClinGen ExAC TOPMed gnomAD
TCGA novel CA229352140 rs774227686 COSM201938	13	E>K	Variant assessed as Somatic; 0.0 impact. large_intestine Variant assessed as Somatic; impact. [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1357330787 CA382718689	14	V>M		No	ClinGen gnomAD
rs1267331914 CA382718765	16	S>Y		No	ClinGen TOPMed gnomAD
rs1269796827 CA382718818	17	K>N		No	ClinGen TOPMed
CA382718882 rs1284302871	19	E>G		No	ClinGen gnomAD
CA6292381 rs139635313	19	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed
rs1441358079 CA382718913	20	K>E		No	ClinGen gnomAD
rs1252336842 CA382718926	20	K>R		No	ClinGen TOPMed
CA6292383 rs779794717	21	K>N		No	ClinGen ExAC gnomAD
CA6292384 rs549620171	23	D>E		No	ClinGen 1000Genomes TOPMed
CA6292387 COSM169109 rs746670728	24	E>K	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1476513620 CA382719129	25	E>D		No	ClinGen gnomAD
CA382719286 rs377127171	28	E>D		No	ClinGen ESP ExAC gnomAD
CA6292390 rs748650693	29	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs145248372 CA6292389	29	R>W		No	ClinGen ESP ExAC TOPMed
rs74335466 CA6292392	31	V>G		No	ClinGen ExAC gnomAD
CA382719329 rs1451840635	31	V>L		No	ClinGen gnomAD
CA6292394 rs749430461	32	E>G		No	ClinGen ExAC gnomAD
CA6292395 rs770950645	33	W>G		No	ClinGen ExAC gnomAD
rs1390567639 CA382719442	34	I>N		No	ClinGen TOPMed
CA6292396 rs774586761	34	I>V		No	ClinGen ExAC gnomAD
rs759849213 CA6292397	35	I>M		No	ClinGen ExAC gnomAD
rs1591779536 CA382719483 COSM415331	35	I>T	urinary_tract [Cosmic]	No	ClinGen cosmic curated Ensembl
rs763912841 CA6292398	36	V>E		No	ClinGen ExAC gnomAD
CA382719496 rs1287414857	36	V>M		No	ClinGen gnomAD
CA229352193 rs140777664	37	Q>H		No	ClinGen ESP ExAC gnomAD
rs761826237 CA6292400	40	P>S		No	ClinGen ExAC gnomAD
rs368276317 CA6292401	41	D>N		No	ClinGen ESP ExAC gnomAD
CA6292402 rs201330898	44	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs757884018 CA6292403	44	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA382719755 rs1339099906	45	P>L		No	ClinGen gnomAD
rs765828479 CA6292404	47	R>C		No	ClinGen ExAC TOPMed gnomAD
rs1251479397 CA382719798	47	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA382719815 rs1417679154	48	G>V		No	ClinGen gnomAD
rs11547376 CA6292405	49	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1364593809 CA382719843	49	R>H		No	ClinGen gnomAD
TCGA novel	51	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs933034144 CA229352227	53	Q>H		No	ClinGen TOPMed
CA382719956 rs1377358166	53	Q>R		No	ClinGen gnomAD
CA382719963 rs1379547523	54	V>L		No	ClinGen TOPMed
rs1368685453 CA382720036	56	L>P		No	ClinGen gnomAD
CA382720086 rs1392890552	58	N>K		No	ClinGen TOPMed gnomAD
CA382720090 rs1200991665	59	G>S		No	ClinGen TOPMed
rs1330138893 CA382720139	60	V>A		No	ClinGen gnomAD
CA382720128 CA382720130 rs149213147	60	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs149213147 CA6292410	60	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA6292432 rs756423771	61	I>T		No	ClinGen ExAC TOPMed gnomAD
CA382720261 rs1187994162	61	I>V		No	ClinGen TOPMed gnomAD
CA382720284 rs1315574665	62	L>V		No	ClinGen TOPMed
rs145148872 CA6292437	70	Y>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA382720523 rs1591779884	72	D>E		No	ClinGen Ensembl
CA6292439 rs370652740	74	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA6292438 rs370652740	74	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA6292440 COSM1561075 rs780383343	76	P>L	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
RCV000974105 CA6292442 rs36112166	77	V>L		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1296894886 CA382720624	78	K>M		No	ClinGen gnomAD
CA229352326 rs11547375	80	P>R		No	ClinGen Ensembl
CA6292444 rs762937184	80	P>S		No	ClinGen ExAC gnomAD
rs180986151 CA229352338	81	E>D		No	ClinGen 1000Genomes TOPMed gnomAD
CA382720701 rs1565295087	81	E>G		No	ClinGen Ensembl
CA6292447 rs759010399	81	E>K		No	ClinGen ExAC gnomAD
CA6292448 rs201511147	83	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA382720756 rs1326374299	83	P>T		No	ClinGen gnomAD
rs752292029 CA6292449	84	P>A		No	ClinGen ExAC gnomAD
CA6292451 rs764512264	84	P>L		No	ClinGen ExAC gnomAD
rs752292029 CA6292450	84	P>S		No	ClinGen ExAC gnomAD
rs1474216907 CA382720863	86	M>T		No	ClinGen gnomAD
rs754211410 CA6292452	86	M>V		No	ClinGen ExAC gnomAD
CA382720888 rs148113093	87	V>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA6292453 rs148113093	87	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA6292454 rs148113093	87	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA382720957 rs1337344740	90	Q>K		No	ClinGen TOPMed
rs758500974 CA6292456	91	M>T		No	ClinGen ExAC TOPMed gnomAD
CA382721116 rs1156522945	92	E>K		No	ClinGen gnomAD
CA6292458 rs747231223	94	V>M		No	ClinGen ExAC gnomAD
rs768819001 CA6292459	95	A>V		No	ClinGen ExAC TOPMed gnomAD
rs370629366 CA6292460	96	Q>*		No	ClinGen ESP ExAC gnomAD
CA6292461 rs749078222	100	A>V		No	ClinGen ExAC TOPMed gnomAD
rs774226652 CA6292463	105	G>A		No	ClinGen ExAC gnomAD
rs1319020456 CA382721709	107	I>M		No	ClinGen gnomAD
rs1216571443 CA382721864	111	M>K		No	ClinGen gnomAD
rs918258475 CA229352410	111	M>V		No	ClinGen TOPMed
rs771508133 CA6292466	113	Q>P		No	ClinGen ExAC TOPMed gnomAD
CA6292467 rs775044094	114	T>A		No	ClinGen ExAC gnomAD
rs763700396 CA6292469	115	V>A		No	ClinGen ExAC gnomAD
rs565311785 CA6292468	115	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs964345638 CA229352647	123	M>T		No	ClinGen Ensembl
CA6292496 rs754966865	125	A>G		No	ClinGen ExAC gnomAD
CA6292495 rs752140448	125	A>T		No	ClinGen ExAC gnomAD
CA6292497 rs754966865	125	A>V		No	ClinGen ExAC gnomAD
rs1591780552 CA382723847	126	V>G		No	ClinGen Ensembl
CA382723842 rs1565295500	126	V>L		No	ClinGen Ensembl
CA229352655 rs975267354	129	T>S		No	ClinGen Ensembl
rs768643861 CA229352656	129	T>S		No	ClinGen Ensembl
rs1322791945 CA382723921	131	M>T		No	ClinGen TOPMed
CA6292500 rs778662789	132	A>V		No	ClinGen ExAC gnomAD
CA382723952 rs1159331712	134	G>S		No	ClinGen TOPMed gnomAD
CA229352664 rs563850243	137	A>V		No	ClinGen Ensembl
CA382724079 rs1360674206	139	T>S		No	ClinGen TOPMed
CA382724091 rs1475346910	140	K>E		No	ClinGen gnomAD
CA229352666 rs771877408	142	D>V		No	ClinGen TOPMed gnomAD
CA382724180 rs1591780644	144	H>N		No	ClinGen Ensembl
COSM1165699 CA6292503 rs576790308	146	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs374464235 CA6292504	146	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs367640314 CA6292505	150	N>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA229352671 rs894716788	152	F>Y		No	ClinGen Ensembl
CA6292506 rs780758296	153	M>T		No	ClinGen ExAC TOPMed gnomAD
CA6292507 rs747751212	154	K>T		No	ClinGen ExAC gnomAD
CA6292527 rs780553555	155	K>T		No	ClinGen ExAC gnomAD
rs138736412 CA6292529	156	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1488869467 CA382724589	156	A>T		No	ClinGen gnomAD
CA6292528 rs138736412 COSM270288	156	A>V	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs1486838572 CA382724604	157	Q>*		No	ClinGen gnomAD
rs1443318801 CA382724609	157	Q>R		No	ClinGen TOPMed
CA382724628 rs1188736073	158	E>D		No	ClinGen gnomAD
rs201243344 CA382724639	159	H>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201243344 CA6292531	159	H>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6292532 rs771356829	161	R>K		No	ClinGen ExAC gnomAD
rs1591781164 CA382724724	162	E>D		No	ClinGen Ensembl
CA382724769 rs1591781190	165	E>D		No	ClinGen Ensembl
CA382724762 rs1433984695	165	E>Q		No	ClinGen gnomAD
rs759950204 CA6292534	165	E>V		No	ClinGen ExAC TOPMed gnomAD
rs772680088 CA382724782	166	S>I		No	ClinGen ExAC gnomAD
rs772680088 COSM215451 CA6292536	166	S>N	central_nervous_system [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA6292535 rs772680088	166	S>T		No	ClinGen ExAC gnomAD
rs1415155883 CA382724792	167	Q>K		No	ClinGen TOPMed gnomAD
rs760702923 CA6292537	168	L>R		No	ClinGen ExAC gnomAD
CA382724825 rs1215417149	169	Q>*		No	ClinGen TOPMed
rs764178145 CA6292538	173	H>P		No	ClinGen ExAC TOPMed gnomAD
rs764178145 CA382724920	173	H>R		No	ClinGen ExAC TOPMed gnomAD
rs1230001795 CA382724935	174	V>L		No	ClinGen gnomAD
CA6292540 rs762025150	177	L>F		No	ClinGen ExAC gnomAD
rs143022570 CA6292541	178	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1346562013 CA382725072	178	Q>R		No	ClinGen gnomAD
rs199561158 CA6292542	180	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs754841045 CA6292543	181	S>N		No	ClinGen ExAC TOPMed gnomAD
CA382725180 rs1201327607	181	S>R		No	ClinGen TOPMed gnomAD
CA382725212 rs752705756 CA6292545	182	N>K		No	ClinGen ExAC TOPMed gnomAD
rs12284316 VAR_048670 CA6292544 RCV000960195	182	N>S		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA382725228 rs1361483515	183	R>S		No	ClinGen TOPMed
rs1239062735 CA382725240	184	G>A		No	ClinGen gnomAD
CA6292546 rs755629432	184	G>R		No	ClinGen ExAC gnomAD
rs201002832 CA6292547	185	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6292550 rs145184469	189	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1370814068 CA382725392	190	M>R		No	ClinGen TOPMed
rs1370814068 CA382725393	190	M>T		No	ClinGen TOPMed
rs1591781321 CA382725372	190	M>V		No	ClinGen Ensembl
CA382725417 rs1488406818	191	T>A		No	ClinGen TOPMed
CA382725430 rs1392729640	191	T>I		No	ClinGen gnomAD
TCGA novel	191	T>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs772350872 CA382725494 COSM923419 CA6292553	194	G>R	endometrium Variant assessed as Somatic; 4.62e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC TOPMed gnomAD NCI-TCGA
CA6292554 rs200027966	195	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs747524780 CA6292555	195	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs199737213 CA6292556	197	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6292557 rs199737213	197	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA382725561 rs1234635687	197	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1591781414 CA382725639	200	I>M		No	ClinGen Ensembl
CA382725627 rs1341293971	200	I>V		No	ClinGen TOPMed
CA6292559 rs761312959	201	S>R		No	ClinGen ExAC TOPMed gnomAD
CA382725659 rs1434708789	201	S>T		No	ClinGen TOPMed
rs1468258240 CA382725681	202	S>K		No	ClinGen gnomAD
CA229352908 rs547690303	202	S>Y		No	ClinGen Ensembl

No associated diseases with Q01995

2 regional properties for Q01995

Type	Name	Position	InterPro Accession
repeat	Calponin repeat	175 - 200	IPR000557
domain	Calponin homology domain	24 - 137	IPR001715

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm
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.
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.

1 GO annotations of molecular function

Name	Definition
actin filament binding	Binding to an actin filament, also known as F-actin, a helical filamentous polymer of globular G-actin subunits.

2 GO annotations of biological process

Name	Definition
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.
muscle organ development	The process whose specific outcome is the progression of the muscle over time, from its formation to the mature structure. The muscle is an organ consisting of a tissue made up of various elongated cells that are specialized to contract and thus to produce movement and mechanical work.

3 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q9WVA4	Tagln2	Transgelin-2	Mus musculus (Mouse)	PR
P37804	Tagln	Transgelin	Mus musculus (Mouse)	PR
P31232	Tagln	Transgelin	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MANKGPSYGM	SREVQSKIEK	KYDEELEERL	VEWIIVQCGP	DVGRPDRGRL	GFQVWLKNGV
70	80	90	100	110	120
ILSKLVNSLY	PDGSKPVKVP	ENPPSMVFKQ	MEQVAQFLKA	AEDYGVIKTD	MFQTVDLFEG
130	140	150	160	170	180
KDMAAVQRTL	MALGSLAVTK	NDGHYRGDPN	WFMKKAQEHK	REFTESQLQE	GKHVIGLQMG
190	200
SNRGASQAGM	TGYGRPRQII	S