AiPD: Autoinhibited Protein Database

O96004

Gene name	HAND1 (BHLHA27, EHAND)
Protein name	Heart- and neural crest derivatives-expressed protein 1
Names	Class A basic helix-loop-helix protein 27, bHLHa27, Extraembryonic tissues, heart, autonomic nervous system and neural crest derivatives-expressed protein 1, eHAND
Species	Homo sapiens (Human)
KEGG Pathway	hsa:9421
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

14-215 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

14-215 (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 O96004

Entry ID	Method	Resolution	Chain	Position	Source
AF-O96004-F1	Predicted				AlphaFoldDB

202 variants for O96004

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs564241048 RCV002546807 CA3526639 COSM1064729 RCV001337137	41	Y>C	Hypoplastic left heart syndrome Variant assessed as Somatic; 0.0 impact. endometrium Inborn genetic diseases [ClinVar, NCI-TCGA, Cosmic]	Yes	ClinGen cosmic curated ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD
CA3526611 RCV000813025 rs772843786	63	P>S	Hypoplastic left heart syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA3526602 rs764242373 RCV001318486	72	Y>C	Hypoplastic left heart syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs201302313 RCV001701712 CA3526593 RCV000473290 RCV000238645	83	G>W	Hypoplastic left heart syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000633472 CA361922968 rs1177737621	86	E>V	Hypoplastic left heart syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
CA10582411 RCV000232915 RCV001317302 rs878854746	97	G>C	Hypoplastic left heart syndrome Hypoplastic left heart syndrome 1 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001295749 CA3526568 rs745686103	124	V>L	Hypoplastic left heart syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1246794989 CA361920650 RCV001323212	184	H>L	Hypoplastic left heart syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV000227604 CA10582410 RCV001343245 rs878854747	196	K>R	Hypoplastic left heart syndrome Hypoplastic left heart syndrome 1 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA361924789 rs1354473345	2	N>D		No	ClinGen TOPMed gnomAD
CA361924777 rs1299508908	3	L>I		No	ClinGen TOPMed
rs1299508908 CA361924776	3	L>V		No	ClinGen TOPMed
CA3526660 rs767528053	4	V>M		No	ClinGen ExAC gnomAD
TCGA novel	5	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361924217 rs1460357937	5	G>D		No	ClinGen gnomAD
rs1397025136 CA361924223	5	G>R		No	ClinGen TOPMed
CA3526659 rs762997931	6	S>R		No	ClinGen ExAC gnomAD
CA3526658 rs371033200	8	A>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA130060251 rs371033200	8	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA361924143 rs1478174885	9	H>Y		No	ClinGen gnomAD
rs570134327 CA130060233	12	H>Y		No	ClinGen 1000Genomes gnomAD
rs1054562820 CA130060223	13	H>L		No	ClinGen TOPMed gnomAD
rs769999347 CA3526657	13	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs1316132356 CA361924019	14	H>R		No	ClinGen TOPMed
rs200556971 CA3526656	16	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA3526653 rs768925214	17	H>Y		No	ClinGen ExAC gnomAD
TCGA novel	18	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1333509227 CA361923939	18	P>T		No	ClinGen gnomAD
rs747513609 CA3526652	19	A>G		No	ClinGen ExAC gnomAD
rs1355879284 CA361923905	20	H>Q		No	ClinGen gnomAD
CA361923897 COSM4155572 rs780396101	21	P>L	kidney [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA3526651 rs780396101	21	P>R		No	ClinGen ExAC TOPMed gnomAD
CA361923890 rs1270137702	22	M>V		No	ClinGen TOPMed
CA361923872 rs1389429025	23	L>V		No	ClinGen gnomAD
CA3526650 rs772757234	24	H>R		No	ClinGen ExAC TOPMed gnomAD
CA361923859 rs1398607391	24	H>Y		No	ClinGen gnomAD
rs745362462 CA3526649	25	E>K		No	ClinGen ExAC gnomAD
rs1261908051 CA361923828	26	P>L		No	ClinGen TOPMed
CA3526648 rs528298246	26	P>S		No	ClinGen 1000Genomes ExAC gnomAD
CA3526647 rs756908501	29	F>L		No	ClinGen ExAC gnomAD
CA361923774 rs753450334	30	G>R		No	ClinGen ExAC TOPMed gnomAD
CA3526646 rs753450334	30	G>S		No	ClinGen ExAC TOPMed gnomAD
rs777581629 CA3526645	31	P>Q		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	31	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361923688 rs1253357213	34	R>L		No	ClinGen gnomAD
CA361923652 rs1199817968	36	H>R		No	ClinGen gnomAD
CA3526641 rs759535790	37	Q>H		No	ClinGen ExAC TOPMed
CA3526642 rs533319519	37	Q>R		No	ClinGen 1000Genomes ExAC gnomAD
rs564241048 CA3526640	41	Y>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3526637 rs776751181	42	F>L		No	ClinGen ExAC gnomAD
CA3526638 rs762046238	42	F>L		No	ClinGen ExAC gnomAD
CA3526636 rs768965463	43	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA3526635 rs145232171	44	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA361923506 rs1297503043	44	S>T		No	ClinGen TOPMed
CA3526633 rs772706064	45	W>C		No	ClinGen ExAC TOPMed gnomAD
rs1296594232 CA361923496	45	W>G		No	ClinGen TOPMed
CA130060170 rs141689288	45	W>S		No	ClinGen ESP TOPMed gnomAD
rs746385291 CA3526632	46	L>M		No	ClinGen ExAC gnomAD
rs778513187 CA3526631	48	S>G		No	ClinGen ExAC gnomAD
rs770592263 CA361923432 CA3526630	48	S>R		No	ClinGen ExAC TOPMed gnomAD
CA3526629 rs748866943	49	P>R		No	ClinGen ExAC TOPMed gnomAD
CA361923425 rs1463053457	49	P>S		No	ClinGen gnomAD
CA361923417 rs1468987419	50	A>P		No	ClinGen gnomAD
CA361923415 rs1468987419	50	A>T		No	ClinGen gnomAD
CA361923396 rs1365842411	51	D>V		No	ClinGen TOPMed gnomAD
rs777266765 CA3526628	52	A>T		No	ClinGen ExAC gnomAD
CA361923384 rs1454187248	53	A>T		No	ClinGen gnomAD
rs1251644234 CA361923375	53	A>V		No	ClinGen TOPMed gnomAD
rs780969396 CA3526626	54	P>L		No	ClinGen ExAC gnomAD
CA3526625 rs780969396	54	P>R		No	ClinGen ExAC gnomAD
rs1202928556 CA361923330	56	F>L		No	ClinGen gnomAD
CA361923319 rs1346301899	57	P>L		No	ClinGen gnomAD
rs201496181 CA3526623	58	A>E		No	ClinGen ExAC TOPMed gnomAD
CA361923305 rs201496181	58	A>G		No	ClinGen ExAC TOPMed gnomAD
CA361923307 rs1352583664	58	A>S		No	ClinGen gnomAD
TCGA novel	58	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3526620 rs754000582	59	G>S		No	ClinGen ExAC
CA3526618 rs761028320	60	G>E		No	ClinGen ExAC gnomAD
CA3526619 rs202045612	60	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs760076464 CA3526615	61	P>L		No	ClinGen ExAC TOPMed gnomAD
rs760076464 CA361923263	61	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA3526616 rs768012504	61	P>S		No	ClinGen ExAC gnomAD
rs768012504 CA361923276	61	P>T		No	ClinGen ExAC gnomAD
CA3526610 rs769262740	63	P>L		No	ClinGen ExAC gnomAD
rs1196044769 CA361923222	64	A>S		No	ClinGen gnomAD
rs1478071174 CA361923209	65	A>G		No	ClinGen gnomAD
CA361923201 rs1190602578 COSM590810	66	A>S	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1190602578 CA361923204	66	A>T		No	ClinGen gnomAD
rs780916501 CA3526608	67	A>V		No	ClinGen ExAC gnomAD
rs374965548 CA3526607	68	A>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1219669852 CA361923163	69	A>D		No	ClinGen gnomAD
rs1282472466 CA361923170	69	A>S		No	ClinGen gnomAD
rs1282472466 CA361923173	69	A>T		No	ClinGen gnomAD
CA130060067 rs576059307	70	T>P		No	ClinGen 1000Genomes
CA3526605 rs758422053	71	A>S		No	ClinGen ExAC TOPMed gnomAD
CA3526604 rs758422053	71	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1217088770 CA361923121	73	G>D		No	ClinGen TOPMed
CA3526601 rs756237060	73	G>S		No	ClinGen ExAC gnomAD
CA3526600 rs752995620 CA361923091	75	D>E		No	ClinGen ExAC gnomAD
rs767888040 CA3526599	76	A>T		No	ClinGen ExAC gnomAD
rs1373952727 CA361923066	77	R>S		No	ClinGen gnomAD
rs1176090594 CA361923053 CA361923054	79	G>R		No	ClinGen TOPMed gnomAD
rs774910795 CA3526597	80	Q>H		No	ClinGen ExAC gnomAD
rs201037401 CA3526598	80	Q>R		No	ClinGen 1000Genomes ExAC
CA3526596 rs766789740	81	S>C		No	ClinGen ExAC gnomAD
rs763518945 CA3526595	81	S>T		No	ClinGen ExAC gnomAD
rs772538065 CA3526594	82	P>L		No	ClinGen ExAC TOPMed gnomAD
CA361922988 rs1167066563	84	R>W		No	ClinGen gnomAD
CA3526587 rs369296058	91	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1320086824 CA361922905	91	R>L		No	ClinGen gnomAD
CA361922913 rs369296058	91	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1353975436 CA361922877	94	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs777670897 CA3526585	94	R>W		No	ClinGen ExAC gnomAD
rs752869371 CA3526583	95	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA3526584 rs756183625	95	R>W		No	ClinGen ExAC gnomAD
CA3526582 rs572764589	96	K>E		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	99	G>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs751904421 CA3526579	99	G>A		No	ClinGen ExAC gnomAD
rs751904421 CA3526580	99	G>V		No	ClinGen ExAC gnomAD
rs763319157 CA3526577	102	K>E		No	ClinGen ExAC gnomAD
TCGA novel CA361922758 rs1419800202	102	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen gnomAD
rs758433854 CA130059914	103	E>D		No	ClinGen Ensembl
CA361922748 rs1182283102	103	E>G		No	ClinGen TOPMed gnomAD
CA130059896 rs765342459	105	R>I		No	ClinGen Ensembl
CA361922690 rs1206454242	107	T>A		No	ClinGen TOPMed gnomAD
CA361922691 rs1206454242	107	T>P		No	ClinGen TOPMed gnomAD
CA130059884 rs905545828	110	I>L		No	ClinGen TOPMed
rs761291470 CA3526574	112	S>C		No	ClinGen ExAC gnomAD
rs776179261 CA3526573	112	S>R		No	ClinGen ExAC TOPMed gnomAD
rs774267927 CA130059867	114	F>L		No	ClinGen gnomAD
rs536000696 CA3526571	117	L>F		No	ClinGen 1000Genomes ExAC gnomAD
rs1449580591 CA361922498	118	R>L		No	ClinGen gnomAD
CA361922493 rs1400422414	119	E>*		No	ClinGen TOPMed gnomAD
rs775093878 CA3526570	119	E>D		No	ClinGen ExAC TOPMed gnomAD
CA361922496 rs1400422414	119	E>Q		No	ClinGen TOPMed gnomAD
CA130059851 rs1048063616	122	P>R		No	ClinGen TOPMed
rs1481488405 CA361922442	122	P>S		No	ClinGen TOPMed
CA361922418 rs1165033501 COSM385961	123	N>K	lung [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA130059848 rs745686103	124	V>M		No	ClinGen ExAC TOPMed gnomAD
CA361922393 rs1405443403	125	P>L		No	ClinGen gnomAD
rs1440191810 CA361922372	127	D>Y		No	ClinGen gnomAD
TCGA novel	129	K>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361922272 rs1467186459	133	I>L		No	ClinGen gnomAD
CA130059828 rs974646425	134	K>*		No	ClinGen TOPMed gnomAD
CA361922254 rs1222504650	134	K>R		No	ClinGen gnomAD
rs765936211	136	L>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
COSM281622 rs374536409 CA3526564	137	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA3526563 rs374536409	137	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs771047758 CA3526565	137	R>S		No	ClinGen ExAC gnomAD
CA3526562 rs755192128	140	T>A		No	ClinGen ExAC gnomAD
rs1378346540 CA361922173	140	T>N		No	ClinGen gnomAD
CA361922163 rs1303293556	141	S>N		No	ClinGen gnomAD
CA3526560 rs140560109	144	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs140560109 CA3526561	144	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1052192853 CA130059781	145	Y>C		No	ClinGen Ensembl
CA361922023 rs1452539216	148	D>E		No	ClinGen gnomAD
CA3526558 rs750803617	148	D>G		No	ClinGen ExAC gnomAD
CA361922013 rs1270361699	149	V>L		No	ClinGen TOPMed
rs762375465 CA3526556	152	K>E		No	ClinGen ExAC TOPMed gnomAD
CA361921864 rs1582056958	156	S>F		No	ClinGen Ensembl
CA361921780 rs1191667279	159	P>L		No	ClinGen gnomAD
rs1561711379 CA361921790	159	P>T		No	ClinGen Ensembl
CA130059728 rs987403652	160	E>G		No	ClinGen TOPMed gnomAD
CA361921751 rs1269484400	161	A>V		No	ClinGen gnomAD
rs1192017843 CA361921738	162	F>L		No	ClinGen gnomAD
CA361921724 rs1269763181	163	K>Q		No	ClinGen TOPMed
rs202139442 CA3526552	167	K>M		No	ClinGen ExAC TOPMed gnomAD
rs1240546642 CA361921651	167	K>Q		No	ClinGen gnomAD
CA3526551 rs202139442 COSM1496075	167	K>R	kidney [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA361921628 rs1327129838	168	K>*		No	ClinGen gnomAD
rs201984942 CA3526548	171	G>D		No	ClinGen 1000Genomes ExAC
CA361921540 rs1166385384	172	G>C		No	ClinGen TOPMed
COSM290318 CA361921530 rs1313460396	173	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA130059698 rs146912397	173	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs146912397 CA3526547	173	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1313460396 CA361921534	173	R>S		No	ClinGen TOPMed gnomAD
CA3526546 rs781370812	174	E>G		No	ClinGen ExAC gnomAD
rs1164568199 CA361921513 COSM1064724	175	S>N	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs747099689 CA130059683	177	R>L		No	ClinGen ExAC
CA3526544 rs747099689	177	R>Q		No	ClinGen ExAC
CA361921456 rs768888751	177	R>W		No	ClinGen ExAC gnomAD
rs1333755459 CA361920671	182	Q>K		No	ClinGen gnomAD
rs1340776953 CA361920635	186	G>D		No	ClinGen gnomAD
CA130058458 rs929460819	188	P>A		No	ClinGen TOPMed
rs147677474 CA3526519	189	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1389554299 CA361920618	189	P>S		No	ClinGen gnomAD
rs778198835 CA3526518	190	A>S		No	ClinGen ExAC gnomAD
CA3526517 rs756586663	190	A>V		No	ClinGen ExAC gnomAD
CA3526515 rs373277337	194	V>A		No	ClinGen ESP ExAC TOPMed
TCGA novel	195	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA130058409 rs762914657	195	E>Q		No	ClinGen gnomAD
rs754637839 CA3526513	199	K>Q		No	ClinGen ExAC gnomAD
CA3526512 rs751211164	200	G>E		No	ClinGen ExAC gnomAD
CA3526511 rs766161267	202	T>S		No	ClinGen ExAC gnomAD
rs762786810 CA3526510	203	G>A		No	ClinGen ExAC gnomAD
CA3526508 rs765198552	205	P>Q		No	ClinGen ExAC gnomAD
CA361920524 rs1439266037	205	P>T		No	ClinGen TOPMed gnomAD
rs772091154 CA3526505	208	V>L		No	ClinGen ExAC gnomAD
CA3526504 rs746068193	210	A>E		No	ClinGen ExAC gnomAD
CA361920485 rs746068193	210	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA3526502 rs771160670	215	Q>*		No	ClinGen ExAC gnomAD
rs985784176 CA130058340	215	Q>R		No	ClinGen TOPMed

No associated diseases with O96004

1 regional properties for O96004

Type	Name	Position	InterPro Accession
domain	Myc-type, basic helix-loop-helix (bHLH) domain	94 - 152	IPR011598

Functions

		Description
EC Number
Subcellular Localization	Nucleus, nucleoplasm Nucleus, nucleolus	Interaction with MDFIC sequesters it into the nucleolus, preventing the transcription factor activity Phosphorylation by PLK4 disrupts the interaction with MDFIC and releases it from the nucleolus, leading to transcription factor activity (By similarity)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

6 GO annotations of cellular component

Name	Definition
chromatin	The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome.
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
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.
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.
RNA polymerase II transcription regulator complex	A transcription factor complex that acts at a regulatory region of a gene transcribed by RNA polymerase II.

11 GO annotations of molecular function

Name	Definition
bHLH transcription factor binding	Binding to a basic Helix-Loop-Helix (bHLH) superfamily of transcription factors, important regulatory components in transcriptional networks of many developmental pathways.
DNA-binding transcription activator activity, RNA polymerase II-specific	A DNA-binding transcription factor activity that activates or increases transcription of specific gene sets transcribed by RNA polymerase II.
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.
enzyme binding	Binding to an enzyme, a protein with catalytic activity.
identical protein binding	Binding to an identical protein or proteins.
protein homodimerization activity	Binding to an identical protein to form a homodimer.
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.
RNA polymerase II transcription regulatory region sequence-specific DNA binding	Binding to a specific sequence of DNA that is part of a regulatory region that controls the transcription of a gene or cistron by RNA polymerase II.
RNA polymerase II-specific DNA-binding transcription factor binding	Binding to a sequence-specific DNA binding RNA polymerase II transcription factor, any of the factors that interact selectively and non-covalently with a specific DNA sequence in order to modulate transcription.
transcription coregulator binding	Binding to a transcription coregulator, a protein involved in regulation of transcription via protein-protein interactions with transcription factors and other transcription regulatory proteins. Cofactors do not bind DNA directly, but rather mediate protein-protein interactions between regulatory transcription factors and the basal transcription machinery.

23 GO annotations of biological process

Name	Definition
angiogenesis	Blood vessel formation when new vessels emerge from the proliferation of pre-existing blood vessels.
blastocyst development	The process whose specific outcome is the progression of the blastocyst over time, from its formation to the mature structure. The mammalian blastocyst is a hollow ball of cells containing two cell types, the inner cell mass and the trophectoderm.
cardiac left ventricle formation	The developmental process pertaining to the initial formation of a left cardiac ventricle from unspecified parts.
cardiac right ventricle formation	The developmental process pertaining to the initial formation of a right cardiac ventricle from unspecified parts.
cardiac septum morphogenesis	The process in which the anatomical structure of a cardiac septum is generated and organized. A cardiac septum is a partition that separates parts of the heart.
cartilage morphogenesis	The process in which the anatomical structures of cartilage are generated and organized.
developmental process	A biological process whose specific outcome is the progression of an integrated living unit: an anatomical structure (which may be a subcellular structure, cell, tissue, or organ), or organism over time from an initial condition to a later condition.
embryonic heart tube development	The process whose specific outcome is the progression of the embryonic heart tube over time, from its formation to the mature structure. The heart tube forms as the heart rudiment from the heart field.
embryonic heart tube formation	The process that gives rise to the embryonic heart tube. This process pertains to the initial formation of a structure from unspecified parts. The embryonic heart tube is an epithelial tube that will give rise to the mature heart.
heart development	The process whose specific outcome is the progression of the heart over time, from its formation to the mature structure. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood.
heart looping	The tube morphogenesis process in which the primitive heart tube loops asymmetrically. This looping brings the primitive heart chambers into alignment preceding their future integration. Heart looping begins with dextral-looping and ends when the main regional divisions of the mature heart and primordium of the great arterial trunks become established preceeding septation.
mesenchyme development	The process whose specific outcome is the progression of a mesenchymal tissue over time, from its formation to the mature structure. A mesenchymal tissue is made up of loosely packed stellate cells.
mesoderm formation	The process that gives rise to the mesoderm. This process pertains to the initial formation of the structure from unspecified parts.
negative regulation of DNA-binding transcription factor activity	Any process that stops, prevents, or reduces the frequency, rate or extent of the activity of a transcription factor, any factor involved in the initiation or regulation of transcription.
negative regulation of DNA-templated transcription	Any process that stops, prevents, or reduces the frequency, rate or extent of cellular DNA-templated transcription.
negative regulation of RNA polymerase II regulatory region sequence-specific DNA binding	Any process that stops, prevents or reduces the frequency, rate or extent of RNA polymerase II regulatory region sequence-specific DNA binding.
negative regulation of transcription by RNA polymerase II	Any process that stops, prevents, or reduces the frequency, rate or extent of transcription mediated by RNA polymerase II.
odontogenesis of dentin-containing tooth	The process whose specific outcome is the progression of a dentin-containing tooth over time, from its formation to the mature structure. A dentin-containing tooth is a hard, bony organ borne on the jaw or other bone of a vertebrate, and is composed mainly of dentin, a dense calcified substance, covered by a layer of enamel.
positive regulation of transcription by RNA polymerase II	Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter.
regulation of transcription by RNA polymerase II	Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II.
trophectodermal cell differentiation	The process in which a relatively unspecialized cell acquires the specialized features of a trophectoderm cell.
trophoblast giant cell differentiation	The process in which a relatively unspecialized cell acquires specialized features of a trophoblast giant cell of the placenta. Trophoblast giant cells are the cell of the placenta that line the maternal decidua.
ventricular cardiac muscle tissue morphogenesis	The process in which the anatomical structures of cardiac ventricle muscle is generated and organized.

5 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q0VCE2	HAND1	Heart- and neural crest derivatives-expressed protein 1	Bos taurus (Bovine)	PR
Q90691	HAND1	Heart- and neural crest derivatives-expressed protein 1	Gallus gallus (Chicken)	PR
Q9JLR5	Tcf23	Transcription factor 23	Mus musculus (Mouse)	PR
Q64279	Hand1	Heart- and neural crest derivatives-expressed protein 1	Mus musculus (Mouse)	PR
P97832	Hand1	Heart- and neural crest derivatives-expressed protein 1	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MNLVGSYAHH	HHHHHPHPAH	PMLHEPFLFG	PASRCHQERP	YFQSWLLSPA	DAAPDFPAGG
70	80	90	100	110	120
PPPAAAAAAT	AYGPDARPGQ	SPGRLEALGG	RLGRRKGSGP	KKERRRTESI	NSAFAELREC
130	140	150	160	170	180
IPNVPADTKL	SKIKTLRLAT	SYIAYLMDVL	AKDAQSGDPE	AFKAELKKAD	GGRESKRKRE
190	200	210
LQQHEGFPPA	LGPVEKRIKG	RTGWPQQVWA	LELNQ