AiPD: Autoinhibited Protein Database

O00422

Gene name	SAP18 (GIG38)
Protein name	Histone deacetylase complex subunit SAP18
Names	18 kDa Sin3-associated polypeptide, 2HOR0202, Cell growth-inhibiting gene 38 protein, Sin3-associated polypeptide p18
Species	Homo sapiens (Human)
KEGG Pathway	hsa:10284
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-51 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-51 (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

2 structures for O00422

Entry ID	Method	Resolution	Chain	Position	Source
2HDE	NMR	-	A	6-149	PDB
AF-O00422-F1	Predicted				AlphaFoldDB

82 variants for O00422

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs752464689 CA6907632	4	E>V		No	ClinGen ExAC gnomAD
CA387494914 rs1161977637	5	S>*		No	ClinGen TOPMed
CA387494909 rs1379939952	5	S>T		No	ClinGen gnomAD
CA387494922 rs777404407	6	R>C		No	ClinGen ExAC gnomAD
CA387494924 rs1265831715	6	R>H		No	ClinGen gnomAD
rs777404407 CA6907634	6	R>S		No	ClinGen ExAC gnomAD
rs1418054147 CA387494974	10	E>G		No	ClinGen gnomAD
CA387495011 rs1487229594	13	K>R		No	ClinGen gnomAD
CA6907636 rs757198379	17	E>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA387495068 rs1156759952	18	K>E		No	ClinGen gnomAD
CA6907637 rs550761091	18	K>N		No	ClinGen ExAC gnomAD
CA6907638 rs745325674	19	P>S		No	ClinGen ExAC TOPMed gnomAD
CA387495151 rs1490307670	22	R>L		No	ClinGen TOPMed
rs1267218087 CA387495173	24	K>T		No	ClinGen TOPMed
rs1455361158 CA387495563	25	T>P		No	ClinGen gnomAD
CA387495648 rs1210721036	30	L>P		No	ClinGen TOPMed
CA387495723 rs1347601736	35	T>I		No	ClinGen gnomAD
rs771411837 CA6907704	36	N>S		No	ClinGen ExAC TOPMed gnomAD
CA387495771 rs1351411347	40	H>Y		No	ClinGen gnomAD
rs1206989775 CA387495808	43	M>I		No	ClinGen gnomAD
rs1595288059 CA387495800	43	M>L		No	ClinGen Ensembl
CA387495823 rs1290210041	44	D>E		No	ClinGen gnomAD
CA387495846 rs1490340812	46	F>L		No	ClinGen gnomAD
CA6907706 rs757818539	47	S>C		No	ClinGen ExAC
CA387495860 rs1271435407	48	R>Q		No	ClinGen gnomAD
CA6907707 rs781593093	48	R>W		No	ClinGen ExAC gnomAD
CA387495879 rs1565985582	50	N>S		No	ClinGen Ensembl
CA6907709 rs769823450	51	V>G		No	ClinGen ExAC TOPMed gnomAD
rs775710122 CA6907710	52	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1804868 CA246587474	52	P>T		No	ClinGen Ensembl
CA387495900 rs1364856311	53	S>T		No	ClinGen gnomAD
rs1304907056 CA387495915	54	S>T		No	ClinGen gnomAD
TCGA novel	55	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1306492238 CA387495948	57	Q>E		No	ClinGen gnomAD
rs1336638264 CA387495956	58	I>V		No	ClinGen gnomAD
rs1185009308 CA387496077	62	M>V		No	ClinGen TOPMed
CA246592292 rs954845353	73	V>A		No	ClinGen TOPMed
TCGA novel	73	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	74	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs968775589 CA246592300	75	E>D		No	ClinGen Ensembl
CA246592299 rs1021730701	75	E>V		No	ClinGen Ensembl
CA6907730 rs749330807	76	V>I		No	ClinGen ExAC gnomAD
CA387496237 rs1396811280	84	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs748376383 CA6907733	85	T>I		No	ClinGen ExAC gnomAD
rs1330254667 CA387496252	86	H>Y		No	ClinGen TOPMed gnomAD
CA387496265 rs1292926263	87	F>L		No	ClinGen TOPMed
rs1481838912 CA387496276	88	N>H		No	ClinGen gnomAD
CA6907734 rs770685260	88	N>S		No	ClinGen ExAC TOPMed gnomAD
CA6907735 rs776479725	89	F>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA6907736 rs759393970	91	I>V		No	ClinGen ExAC gnomAD
CA387496321 rs1184964859	92	V>I		No	ClinGen gnomAD
CA387496346 rs1417292145	94	T>A		No	ClinGen gnomAD
CA6907737 rs769673358	95	D>N		No	ClinGen ExAC gnomAD
CA387496401 rs1468041449	99	P>H		No	ClinGen gnomAD
CA6907738 rs775015278	100	G>V		No	ClinGen ExAC gnomAD
CA387496419 rs1405698390	101	Y>C		No	ClinGen gnomAD
CA6907739 rs762493934	102	R>*		No	ClinGen ExAC gnomAD
rs763576966 CA6907740	102	R>Q		No	ClinGen ExAC TOPMed
rs1029458992 CA246592710	106	I>M		No	ClinGen gnomAD
rs1403487127 CA387496514	106	I>V		No	ClinGen gnomAD
rs1224924349 CA387496539	108	S>I		No	ClinGen gnomAD
rs768222752 CA6907760	112	G>V		No	ClinGen ExAC gnomAD
rs1315750637 CA387496622	116	T>A		No	ClinGen TOPMed gnomAD
CA387496713 rs1465282232	124	S>L		No	ClinGen Ensembl
CA387496734 rs1408637048	126	K>R		No	ClinGen TOPMed
TCGA novel	128	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1481314861 CA387496824	135	I>V		No	ClinGen gnomAD
CA387496840 rs1565987160	137	I>M		No	ClinGen Ensembl
CA246592776 rs762471125	137	I>V		No	ClinGen Ensembl
CA246592777 rs373878914	139	P>A		No	ClinGen ESP
CA6907767 rs748207834	139	P>L		No	ClinGen ExAC TOPMed gnomAD
CA6907768 rs755534247	141	N>H		No	ClinGen ExAC gnomAD
rs1395783276 CA387496869	143	A>T		No	ClinGen Ensembl
rs1804867 CA246592799	144	P>L		No	ClinGen gnomAD
CA6907771 rs201976008	145	P>L		No	ClinGen 1000Genomes ExAC gnomAD
rs752761827 CA6907770	145	P>S		No	ClinGen ExAC gnomAD
CA246592846 rs17852855	146	P>T		No	ClinGen Ensembl
rs146801945 CA246592853	147	S>P		No	ClinGen ESP TOPMed gnomAD
CA6907774 rs376710499	149	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA246592893 rs148923843	150	M>L		No	ClinGen ESP ExAC gnomAD
rs148923843 CA6907775	150	M>V		No	ClinGen ESP ExAC gnomAD
CA6907776 rs749228463	151	R>T		No	ClinGen ExAC gnomAD

No associated diseases with O00422

No regional properties for O00422

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for O00422

Functions

		Description
EC Number
Subcellular Localization	Nucleus Cytoplasm Nucleus speckle	Shuttles between the nucleus and the cytoplasm (PubMed:16314458) Colocalizes with ACIN1 and SRSF2 in nuclear speckles (PubMed:20966198)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

7 GO annotations of cellular component

Name	Definition
ASAP complex	A protein complex involved in regulation of mRNA processing and apoptosis. It binds to RNA in a sequence-independent manner and is recruited to the EJC prior to or during the splicing process. In humans the core proteins are RNPS1, SAP18 and ACIN1.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
histone deacetylase complex	A protein complex that possesses histone deacetylase activity.
nuclear body	Extra-nucleolar nuclear domains usually visualized by confocal microscopy and fluorescent antibodies to specific proteins.
nuclear speck	A discrete extra-nucleolar subnuclear domain, 20-50 in number, in which splicing factors are seen to be localized by immunofluorescence microscopy.
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.

2 GO annotations of molecular function

Name	Definition
RNA binding	Binding to an RNA molecule or a portion thereof.
transcription corepressor activity	A transcription coregulator activity that represses or decreases 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. Corepressors often act by altering chromatin structure and modifications. For example, one class of transcription corepressors 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.

7 GO annotations of biological process

Name	Definition
mRNA processing	Any process involved in the conversion of a primary mRNA transcript into one or more mature mRNA(s) prior to translation into polypeptide.
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 mRNA splicing, via spliceosome	Any process that stops, prevents or reduces the rate or extent of mRNA splicing via a spliceosomal mechanism.
positive regulation of apoptotic process	Any process that activates or increases the frequency, rate or extent of cell death by apoptotic process.
regulation of alternative mRNA splicing, via spliceosome	Any process that modulates the frequency, rate or extent of alternative splicing of nuclear mRNAs.
regulation of transcription by RNA polymerase II	Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II.
RNA splicing	The process of removing sections of the primary RNA transcript to remove sequences not present in the mature form of the RNA and joining the remaining sections to form the mature form of the RNA.

2 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q3T022	SAP18	Histone deacetylase complex subunit SAP18	Bos taurus (Bovine)	PR
O55128	Sap18	Histone deacetylase complex subunit SAP18	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MAVESRVTQE	EIKKEPEKPI	DREKTCPLLL	RVFTTNNGRH	HRMDEFSRGN	VPSSELQIYT
70	80	90	100	110	120
WMDATLKELT	SLVKEVYPEA	RKKGTHFNFA	IVFTDVKRPG	YRVKEIGSTM	SGRKGTDDSM
130	140	150
TLQSQKFQIG	DYLDIAITPP	NRAPPPSGRM	RPY