AiPD: Autoinhibited Protein Database

Q96AT1

Gene name	KIAA1143
Protein name	Uncharacterized protein KIAA1143
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:57456
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

71-154 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

71-154 (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 Q96AT1

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q96AT1-F1	Predicted				AlphaFoldDB

135 variants for Q96AT1

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA352369607 rs1317405132	2	S>G		No	ClinGen TOPMed
CA352369590 rs1559513346	2	S>N		No	ClinGen Ensembl
rs199617767 CA73520029	2	S>R		No	ClinGen TOPMed gnomAD
rs1260249629 CA352369542	3	K>E		No	TOPMed ClinGen
rs150764403 CA2345583	4	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs150764403 CA2345582	4	R>W		No	ESP ExAC TOPMed gnomAD ClinGen
CA352369466 rs1446788149	5	N>K		No	gnomAD ClinGen
CA73520020 rs924667163	5	N>S		No	ClinGen TOPMed gnomAD
rs751223698 CA2345581	6	Q>*		No	ExAC gnomAD ClinGen
CA2345580 rs138889209	6	Q>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs772790693 CA2345578	7	V>A		No	ExAC TOPMed gnomAD ClinGen
rs201826988 CA2345579	7	V>I		No	ExAC TOPMed gnomAD ClinGen
rs201826988 CA352369418	7	V>L		No	ExAC TOPMed gnomAD ClinGen
rs1010677460 CA352369355	8	S>L		No	ClinGen TOPMed gnomAD
CA352369384 rs1169187700	8	S>P		No	ClinGen gnomAD
CA73519998 rs1010677460	8	S>W		No	TOPMed gnomAD ClinGen
rs777180688 CA2345575	9	Y>*		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	9	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2345576 rs762303742	9	Y>S		No	ExAC TOPMed gnomAD ClinGen
rs1238280012 CA352369306	10	V>M		No	gnomAD ClinGen
rs768987702 CA2345574	11	R>G		No	ClinGen ExAC gnomAD
CA2345573 rs747415909	11	R>L		No	ExAC TOPMed gnomAD ClinGen
CA352369277 rs747415909	11	R>P		No	ClinGen ExAC TOPMed gnomAD
rs768987702 CA73519947	11	R>W		No	ClinGen ExAC gnomAD
CA352369257 rs1398214348	12	P>R		No	ClinGen TOPMed
TCGA novel	13	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs866532615 CA73519925	13	A>V		No	Ensembl ClinGen
CA73519896 rs757482161	14	E>*		No	ExAC gnomAD ClinGen
CA2345567 rs752654359	14	E>D		No	ExAC gnomAD ClinGen
CA2345568 rs757482161	14	E>K		No	ExAC gnomAD ClinGen
CA2345566 rs372890637	15	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA2345564 rs751402741	17	F>C		No	ClinGen ExAC gnomAD
CA2345563 rs765881782	17	F>L		No	ClinGen ExAC gnomAD
CA352369026 rs762681225	19	A>S		No	ClinGen ExAC gnomAD
CA2345562 rs762681225	19	A>T		No	ExAC gnomAD ClinGen
rs1310225677 CA352369013	19	A>V		No	ClinGen TOPMed
CA352369001 rs1212082446	20	R>S		No	ClinGen TOPMed
rs1280942536 CA352368928	21	F>C		No	TOPMed ClinGen
rs1048703944 CA73519855	21	F>L		No	ClinGen gnomAD
CA352368960 rs1405796946	21	F>V		No	ClinGen gnomAD
CA2345561 rs750100258	22	K>R		No	ExAC gnomAD ClinGen
rs1471636540 CA352368875	23	E>K		No	ClinGen gnomAD
CA2345558 rs769171514	24	R>L		No	ExAC TOPMed gnomAD ClinGen
CA2345557 rs769171514	24	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA352368853 rs761352502	24	R>W		No	ExAC gnomAD ClinGen
rs918732788 CA73519842	25	V>I		No	ClinGen gnomAD
CA2345555 rs775924003	26	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC gnomAD ClinGen NCI-TCGA
CA352368758 rs1294082188	27	Y>C		No	ClinGen gnomAD
CA2345554 rs372067637	30	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs939064046 CA73519798	31	P>L		No	ClinGen TOPMed gnomAD
CA2345551 rs143778944	31	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2345550 rs143778944	31	P>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA352368592 rs1575562298	36	K>*		No	Ensembl ClinGen
CA2345549 rs566090460	36	K>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs749314845 CA2345531	37	R>I		No	ExAC gnomAD ClinGen
rs773440788 CA2345530	40	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1408636775 CA352367426	42	P>S		No	ClinGen TOPMed
rs879508501 CA73514542	44	D>G		No	TOPMed gnomAD ClinGen
rs770056797 CA2345529	44	D>Y		No	ExAC gnomAD ClinGen
CA352367313 rs1210225983	46	D>Y		No	ClinGen gnomAD
rs779895490 CA2345527	49	H>Q		No	ClinGen ExAC gnomAD
CA352367202 rs1227358604	50	S>G		No	ClinGen TOPMed gnomAD
CA352367186 rs758188724	50	S>R		No	ClinGen ExAC gnomAD
CA352367083 rs1575558322	54	D>E		No	ClinGen Ensembl
rs778495103 CA2345524	54	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA352367082 rs1448922379	55	E>K		No	ClinGen gnomAD
CA2345521 rs753283525	59	V>A		No	ClinGen ExAC gnomAD
CA2345522 rs756905261	59	V>L		No	ClinGen ExAC gnomAD
CA352366872 rs1334823472	60	V>M		No	ClinGen TOPMed
TCGA novel	64	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA352366708 rs1216807702	65	G>R		No	gnomAD ClinGen
CA352366688 rs1448999073	66	D>G		No	TOPMed ClinGen
CA352366696 rs1559510697	66	D>H		No	Ensembl ClinGen
TCGA novel	67	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA73514473 rs13062993	69	V>A		No	ClinGen Ensembl
CA2345518 rs753229814	69	V>I		No	ExAC gnomAD ClinGen
rs767935754 CA2345517	71	E>K		No	ExAC TOPMed ClinGen
CA352366592 rs1277998158	72	V>F		No	ClinGen gnomAD
CA2345515 rs774863378	73	M>T		No	ExAC gnomAD ClinGen
rs1216587815 CA352366579	73	M>V		No	ClinGen TOPMed
rs1217128069 CA352366540	74	K>N		No	ClinGen TOPMed gnomAD
rs1483972294 CA352366514	75	I>T		No	ClinGen gnomAD
CA352366476 rs1318556736	77	A>T		No	ClinGen TOPMed
CA352366438 rs1204291909	79	I>V		No	gnomAD ClinGen
TCGA novel	82	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1202431839 CA352366348	84	A>T		No	TOPMed ClinGen
CA352366208 rs1309841457	86	E>A		No	gnomAD ClinGen
rs1575558034 CA352366179	87	E>D		No	Ensembl ClinGen
rs765399646 CA2345491	88	P>S		No	ClinGen ExAC TOPMed gnomAD
CA2345490 rs761911175	89	T>P		No	ExAC gnomAD ClinGen
CA2345486 COSM1423269 rs377250999	92	D>N	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC gnomAD
CA2345487 rs377250999	92	D>Y		No	1000Genomes ESP ExAC gnomAD ClinGen
TCGA novel	94	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs770694843 CA2345485	95	I>M		No	ExAC gnomAD ClinGen
CA352366032 rs1472670612	95	I>V		No	ClinGen gnomAD
rs749107545 CA2345484	96	I>M		No	ExAC TOPMed gnomAD ClinGen
rs375230819 CA2345483	98	R>*		No	ESP ExAC gnomAD ClinGen
rs769338249 CA2345482	98	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs532568742 CA2345481	100	P>L		No	ClinGen 1000Genomes ExAC gnomAD
rs532568742 CA352365933	100	P>R		No	1000Genomes ExAC gnomAD ClinGen
CA352365925 rs1410499873	101	V>F		No	ClinGen gnomAD
rs752082166 CA2345479	102	K>E		No	ExAC gnomAD ClinGen
rs752082166 CA2345478	102	K>Q		No	ClinGen ExAC gnomAD
rs1208156963 CA352365901	102	K>R		No	ClinGen TOPMed gnomAD
rs758786053 CA2345476	106	D>G		No	ExAC gnomAD ClinGen
CA2345475 rs750847256	107	E>G		No	ExAC gnomAD ClinGen
rs1489189808 CA352365729	111	G>D		No	TOPMed ClinGen
CA73513816 rs376332818	111	G>S		No	ClinGen ESP
TCGA novel	114	A>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs761950846 CA2345473	114	A>T		No	ExAC gnomAD ClinGen
rs138479225 CA2345472	115	S>G		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA352365640 rs1457289684	115	S>N		No	TOPMed gnomAD ClinGen
rs764072651 CA2345471	119	K>R		No	ExAC gnomAD ClinGen
rs371061161 CA2345469	120	K>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA352365569 rs1296004308	120	K>T		No	TOPMed ClinGen
rs1401051284 CA352365554	122	N>D		No	TOPMed ClinGen
CA2345467 rs774226821	122	N>S		No	ExAC gnomAD ClinGen
rs770890912 CA2345466	124	D>G		No	ClinGen ExAC gnomAD
CA352365474 rs1465539483	127	N>I		No	gnomAD ClinGen
rs531778934 CA2345464	128	Q>*		No	ClinGen 1000Genomes ExAC gnomAD
rs531778934 CA2345465	128	Q>K		No	1000Genomes ExAC gnomAD ClinGen
rs1344910569 CA352365448	129	D>Y		No	ClinGen gnomAD
CA2345462 COSM368142 rs747751615	130	S>L	lung [Cosmic]	No	ExAC TOPMed gnomAD ClinGen cosmic curated
CA352365271 rs1297346386	136	Q>*		No	gnomAD ClinGen
CA2345458 rs370270734	136	Q>R		No	ESP ExAC TOPMed gnomAD ClinGen
CA352365235 rs1395016498	138	Q>R		No	ClinGen gnomAD
VAR_027272 CA2345456 rs3853404	139	I>M		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen UniProt dbSNP
CA2345455 rs746174053	140	K>*		No	ClinGen ExAC gnomAD
CA2345454 rs201279714	143	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1559510313 CA352365141	143	S>R		No	Ensembl ClinGen
CA352365136 rs1475832456	144	L>F		No	gnomAD ClinGen
rs181031733 CA2345452	144	L>R		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA2345448 rs144499231	150	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen NCI-TCGA
rs766249251 CA2345446	154	E>K		No	ClinGen ExAC gnomAD
rs770932758 CA2345445	155	E>L		No	ExAC gnomAD ClinGen

No associated diseases with Q96AT1

2 regional properties for Q96AT1

Type	Name	Position	InterPro Accession
binding_site	Serine/threonine dehydratase, pyridoxal-phosphate-binding site	186 - 200	IPR000634
domain	Tryptophan synthase beta chain-like, PALP domain	159 - 465	IPR001926

Functions

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

No GO annotations of cellular component

Name	Definition
No GO annotations for cellular component

No GO annotations of molecular function

Name	Definition
No GO annotations for molecular function

No GO annotations of biological process

Name	Definition
No GO annotations for biological process

3 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q3MHJ0		Uncharacterized protein KIAA1143 homolog	Bos taurus (Bovine)	PR
Q5ZJ97	RCJMB04_19n18	Uncharacterized protein KIAA1143 homolog	Gallus gallus (Chicken)	PR
Q5RKH3		Uncharacterized protein KIAA1143 homolog	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MSKRNQVSYV	RPAEPAFLAR	FKERVGYREG	PTVETKRIQP	QPPDEDGDHS	DKEDEQPQVV
70	80	90	100	110	120
VLKKGDLSVE	EVMKIKAEIK	AAKADEEPTP	ADGRIIYRKP	VKHPSDEKYS	GLTASSKKKK
130	140	150
PNEDEVNQDS	VKKNSQKQIK	NSSLLSFDNE	DENE