AiPD: Autoinhibited Protein Database

Q9Y543

Gene name	HES2 (BHLHB40)
Protein name	Transcription factor HES-2
Names	Class B basic helix-loop-helix protein 40, bHLHb40, Hairy and enhancer of split 2
Species	Homo sapiens (Human)
KEGG Pathway	hsa:54626
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

106-173 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

106-173 (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 Q9Y543

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q9Y543-F1	Predicted				AlphaFoldDB

141 variants for Q9Y543

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA338095784 rs1311586610	5	R>C		No	ClinGen TOPMed gnomAD
CA559805 rs780548003	5	R>H		No	ClinGen ExAC gnomAD
rs1474159303 TCGA novel CA338095769	8	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen gnomAD
CA338095760 rs1366695870	9	D>G		No	ClinGen TOPMed
rs1188282130 CA338095750	10	A>E		No	ClinGen gnomAD
rs1372116763 CA338095753	10	A>S		No	ClinGen gnomAD
rs1486524315 CA338095739	11	A>V		No	ClinGen gnomAD
CA338095726 rs1255225743	12	E>D		No	ClinGen gnomAD
CA338095636 rs1233024794	16	S>N		No	ClinGen gnomAD
CA338095634 rs1374570440	16	S>R		No	ClinGen gnomAD
CA338095616 rs1281773066	18	K>M		No	ClinGen TOPMed gnomAD
rs1281773066 CA338095619	18	K>R		No	ClinGen TOPMed gnomAD
CA338095609 rs978798072	19	P>A		No	ClinGen TOPMed
CA338095608 rs1335693692	19	P>L		No	ClinGen gnomAD
rs978798072 CA17220957	19	P>S		No	ClinGen TOPMed
rs968804454 CA17220955	20	L>M		No	ClinGen gnomAD
rs1393352069 CA338095542	23	K>R		No	ClinGen TOPMed
CA17220949 rs1006574225	24	R>C		No	ClinGen TOPMed
CA338095500 rs769349251	25	R>P		No	ClinGen ExAC TOPMed gnomAD
rs769349251 CA559786	25	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA338095487 rs1163816502	26	R>H		No	ClinGen TOPMed gnomAD
CA559785 rs746347051	27	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1205795441 CA338095445	29	I>N		No	ClinGen TOPMed
CA338095429 rs1484035899	30	N>S		No	ClinGen TOPMed
CA338095406 rs1194296827	31	Q>*		No	ClinGen gnomAD
CA338095402 rs1469910309	31	Q>R		No	ClinGen gnomAD
rs1278085408 CA338095362	33	L>P		No	ClinGen TOPMed
rs1271483941 CA338095349	34	S>N		No	ClinGen gnomAD
rs1051025801 CA17220897	34	S>R		No	ClinGen TOPMed
CA338095339 rs757571964	34	S>R		No	ClinGen ExAC TOPMed gnomAD
CA559781 rs747349076	35	Q>*		No	ClinGen ExAC gnomAD
CA338095260 rs1222439654	39	L>F		No	ClinGen gnomAD
rs1221668083 CA338095238	40	I>N		No	ClinGen TOPMed
rs1350535979 CA338095220	41	L>P		No	ClinGen gnomAD
CA338095209 rs1304857199	42	P>L		No	ClinGen gnomAD
rs758546402 CA559779	47	E>*		No	ClinGen ExAC gnomAD
CA338095059 rs1390200543	48	N>S		No	ClinGen TOPMed
rs1429235293 CA338095046	49	S>T		No	ClinGen TOPMed gnomAD
rs1266221286 CA338095031	50	N>D		No	ClinGen TOPMed
rs891613756 CA17220643	50	N>K		No	ClinGen TOPMed gnomAD
rs147859973 CA559768	50	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1488163634 CA338094997	51	C>F		No	ClinGen gnomAD
CA559767 rs769257315	52	S>W		No	ClinGen ExAC gnomAD
rs759073445 CA559766	53	K>N		No	ClinGen ExAC gnomAD
CA559765 rs777069851	54	L>I		No	ClinGen ExAC gnomAD
rs1054246551 CA17220610	55	E>Q		No	ClinGen TOPMed gnomAD
CA559763 rs144530454	57	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs772538803 CA559761	59	V>G		No	ClinGen ExAC gnomAD
CA559759 rs372112581	60	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA559760 rs372112581	60	L>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA338094852 rs1373624174	61	E>Q		No	ClinGen gnomAD
rs1294840984 CA338094818	62	M>I		No	ClinGen gnomAD
rs1412729170 CA338094800	63	T>I		No	ClinGen gnomAD
CA338094776 rs1462546980	65	R>H		No	ClinGen gnomAD
CA559757 rs367951900	68	Q>K		No	ClinGen ESP ExAC gnomAD
TCGA novel	69	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA338094646 rs1296402789	72	A>V		No	ClinGen TOPMed
CA559755 rs757133884	73	S>F		No	ClinGen ExAC TOPMed gnomAD
CA338094598 rs1371085337	75	W>S		No	ClinGen TOPMed
CA559754 rs751569241	76	P>S		No	ClinGen ExAC TOPMed gnomAD
rs763771889 CA559753	77	T>M		No	ClinGen ExAC gnomAD
CA338094533 rs1256044051	79	A>E		No	ClinGen gnomAD
rs752300434 CA559751	80	P>S		No	ClinGen ExAC gnomAD
rs752300434 CA338094522	80	P>T		No	ClinGen ExAC gnomAD
rs572058382 CA559748	81	L>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs572058382 CA559749	81	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1390312044 CA338094327	84	D>Y		No	ClinGen gnomAD
rs774847354 CA559721	85	S>G		No	ClinGen ExAC TOPMed gnomAD
CA338094314 rs774847354	85	S>R		No	ClinGen ExAC TOPMed gnomAD
CA338094292 rs1571372635	86	Y>S		No	ClinGen Ensembl
rs1202397812 CA338094283	87	R>C		No	ClinGen TOPMed
rs1455705959 CA338094278	87	R>H		No	ClinGen gnomAD
CA338094220 rs1158631679	90	Y>C		No	ClinGen TOPMed gnomAD
CA559720 rs769197592	91	S>G		No	ClinGen ExAC gnomAD
CA338094194 rs1396285417	91	S>N		No	ClinGen TOPMed gnomAD
CA338094192 rs1396285417	91	S>T		No	ClinGen TOPMed gnomAD
CA559719 rs749496829	93	C>F		No	ClinGen ExAC gnomAD
rs1450634725 CA338094122	94	V>L		No	ClinGen gnomAD
CA338094092 rs1206639649	95	A>G		No	ClinGen TOPMed gnomAD
CA338094080 rs1285205654	96	R>C		No	ClinGen gnomAD
rs769715813 CA559717	96	R>L		No	ClinGen ExAC gnomAD
CA17220339 rs910930230	97	L>R		No	ClinGen TOPMed gnomAD
rs1231194926 CA338094050	98	A>V		No	ClinGen gnomAD
rs1330707229 CA338094034	99	R>C		No	ClinGen gnomAD
rs1384256200 CA338094005	101	L>M		No	ClinGen TOPMed gnomAD
CA338093985 rs1359100328	102	P>R		No	ClinGen gnomAD
rs960124401 CA17220335	103	A>S		No	ClinGen Ensembl
CA338093952 rs1435817696	104	C>F		No	ClinGen TOPMed gnomAD
CA338093954 rs1435817696	104	C>S		No	ClinGen TOPMed gnomAD
rs758356207 CA559714	105	R>C		No	ClinGen ExAC TOPMed gnomAD
rs758356207 CA338093945	105	R>G		No	ClinGen ExAC TOPMed gnomAD
rs758356207 CA338093946	105	R>S		No	ClinGen ExAC TOPMed gnomAD
CA338093912 rs1170252755	107	L>P		No	ClinGen gnomAD
rs548723673 CA17220297	110	A>T		No	ClinGen 1000Genomes TOPMed gnomAD
TCGA novel	111	V>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA17220295 rs530227677	111	V>M		No	ClinGen 1000Genomes
CA338093808 rs1426513771	114	R>P		No	ClinGen gnomAD
CA559713 rs748142019	115	L>P		No	ClinGen ExAC gnomAD
rs778658712 CA559712	118	H>R		No	ClinGen ExAC gnomAD
CA559711 rs754809839	119	L>M		No	ClinGen ExAC TOPMed gnomAD
rs1571372556 CA338093729	121	R>Q		No	ClinGen Ensembl
rs753447407 CA559710	121	R>W		No	ClinGen ExAC TOPMed gnomAD
CA338093718 rs12738021	122	R>I		No	ClinGen gnomAD
rs12738021 CA17220282	122	R>T		No	ClinGen gnomAD
CA17220275 rs955928303	123	A>V		No	ClinGen TOPMed gnomAD
rs1229798915 CA338093675	125	S>R		No	ClinGen gnomAD
CA338093673 rs1338726114	126	A>T		No	ClinGen gnomAD
rs1277905199 CA338093654	127	T>I		No	ClinGen gnomAD
CA338093662 rs1571372546	127	T>P		No	ClinGen Ensembl
CA17220272 rs962203107	128	L>R		No	ClinGen Ensembl
rs376955774 CA338093633	131	G>E		No	ClinGen TOPMed
CA17220263 rs1016560518	131	G>R		No	ClinGen Ensembl
rs376955774 CA17220260	131	G>V		No	ClinGen TOPMed
CA17220262 rs1016560518	131	G>W		No	ClinGen Ensembl
CA17220259 rs952380380	133	A>P		No	ClinGen gnomAD
rs952380380 CA338093624	133	A>T		No	ClinGen gnomAD
rs1413394881 CA338093621	133	A>V		No	ClinGen gnomAD
CA559709 rs766076429	135	D>N		No	ClinGen ExAC TOPMed gnomAD
CA338093588 rs1463683892	138	G>D		No	ClinGen gnomAD
CA338093582 rs905738233	139	P>L		No	ClinGen TOPMed
rs905738233 CA17220245	139	P>R		No	ClinGen TOPMed
CA559708 rs2235687 VAR_061256	139	P>S		No	ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
rs749954154 CA559707	141	A>S		No	ClinGen ExAC
CA338093562 rs1165450266	142	P>S		No	ClinGen gnomAD
rs766999135 CA559706	143	A>T		No	ClinGen ExAC TOPMed
CA338093545 rs1571372521	143	A>V		No	ClinGen Ensembl
CA338093534 rs1324373519	144	P>L		No	ClinGen TOPMed
rs900885746 CA17220216	145	A>G		No	ClinGen Ensembl
rs1474671516 CA338093508	147	A>T		No	ClinGen TOPMed gnomAD
rs1019867929 CA17220199	149	A>P		No	ClinGen Ensembl
rs1466472682 CA338093447	152	P>H		No	ClinGen TOPMed
rs1466472682 CA338093445	152	P>L		No	ClinGen TOPMed
CA17220194 rs1012354525	153	A>T		No	ClinGen TOPMed
rs1183931285 CA338093428	154	S>C		No	ClinGen TOPMed gnomAD
rs1437868725 CA338093425	155	A>T		No	ClinGen gnomAD
CA559703 rs775043603	156	P>L		No	ClinGen ExAC TOPMed gnomAD
CA17220169 rs903014448	157	V>G		No	ClinGen Ensembl
rs1249219013 CA338093393	158	P>A		No	ClinGen TOPMed gnomAD
rs764519892 CA559702	160	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1350788328 CA338093278	167	P>L		No	ClinGen TOPMed
rs763436382 CA559701	170	W>R		No	ClinGen ExAC TOPMed gnomAD

No associated diseases with Q9Y543

9 regional properties for Q9Y543

Type	Name	Position	InterPro Accession
domain	Helicase, C-terminal	416 - 588	IPR001650
conserved_site	SEC-C motif	838 - 855	IPR004027
domain	SecA DEAD-like, N-terminal	6 - 384	IPR011115
domain	SecA Wing/Scaffold	570 - 774	IPR011116
domain	SecA, preprotein cross-linking domain	229 - 340	IPR011130
domain	Helicase superfamily 1/2, ATP-binding domain	90 - 230	IPR014001
domain	SecA motor DEAD	3 - 572	IPR014018
conserved_site	SecA conserved site	482 - 497	IPR020937
domain	SecA, C-terminal helicase domain	402 - 542	IPR044722

Functions

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

2 GO annotations of cellular component

Name	Definition
chromatin	The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome.
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.

5 GO annotations of molecular function

Name	Definition
DNA-binding transcription factor activity, RNA polymerase II-specific	A DNA-binding transcription factor activity that modulates the transcription of specific gene sets transcribed by RNA polymerase II.
DNA-binding transcription repressor activity, RNA polymerase II-specific	A DNA-binding transcription factor activity that represses or decreases the transcription of specific gene sets transcribed by RNA polymerase II.
protein dimerization activity	The formation of a protein dimer, a macromolecular structure consists of two noncovalently associated identical or nonidentical subunits.
RNA polymerase II cis-regulatory region sequence-specific DNA binding	Binding to a specific upstream regulatory DNA sequence (transcription factor recognition sequence or binding site) located in cis relative to the transcription start site (i.e., on the same strand of DNA) of a gene transcribed by RNA polymerase II.
sequence-specific double-stranded DNA binding	Binding to double-stranded DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA, e.g. promotor binding or rDNA binding.

3 GO annotations of biological process

Name	Definition
anterior/posterior pattern specification	The regionalization process in which specific areas of cell differentiation are determined along the anterior-posterior axis. The anterior-posterior axis is defined by a line that runs from the head or mouth of an organism to the tail or opposite end of the organism.
regulation of neurogenesis	Any process that modulates the frequency, rate or extent of neurogenesis, the generation of cells in the nervous system.
regulation of transcription by RNA polymerase II	Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II.

3 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P14003	h	Protein hairy	Drosophila melanogaster (Fruit fly)	PR
Q5TA89	HES5	Transcription factor HES-5	Homo sapiens (Human)	PR
Q18053	hlh-26	Helix-loop-helix protein 26	Caenorhabditis elegans	PR

10	20	30	40	50	60
MGLPRRAGDA	AELRKSLKPL	LEKRRRARIN	QSLSQLKGLI	LPLLGRENSN	CSKLEKADVL
70	80	90	100	110	120
EMTVRFLQEL	PASSWPTAAP	LPCDSYREGY	SACVARLARV	LPACRVLEPA	VSARLLEHLW
130	140	150	160	170
RRAASATLDG	GRAGDSSGPS	APAPAPASAP	EPASAPVPSP	PSPPCGPGLW	RPW