AiPD: Autoinhibited Protein Database

O75618

Gene name	DEDD (DEDPRO1, DEFT, KE05)
Protein name	Death effector domain-containing protein
Names	DEDPro1, Death effector domain-containing testicular molecule, FLDED-1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:9191
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

117-216 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

117-216 (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 O75618

Entry ID	Method	Resolution	Chain	Position	Source
AF-O75618-F1	Predicted				AlphaFoldDB

185 variants for O75618

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs200598673 CA1206278	2	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs764797390 CA1206277	3	G>C		No	ClinGen ExAC gnomAD
CA1206276 rs761728836	4	L>I		No	ClinGen ExAC gnomAD
rs753790428 CA1206275	6	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1329681034 CA343335196	6	R>W		No	ClinGen TOPMed gnomAD
CA343335187 rs1381291478	7	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs763813878 CA1206274	7	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1571225345 CA343335175	8	A>G		No	ClinGen Ensembl
CA1206273 rs373445683	10	Q>H		No	ClinGen ESP ExAC gnomAD
rs1459048811 CA343335147	10	Q>L		No	ClinGen TOPMed
CA343335133 rs1571225280	11	V>G		No	ClinGen Ensembl
rs1382044779 CA343335141	11	V>M		No	ClinGen gnomAD
rs1459003859 CA343335065	16	H>P		No	ClinGen gnomAD
rs551657580 CA1206271	18	E>D		No	ClinGen 1000Genomes ExAC gnomAD
rs1158793390 CA343335048	19	Q>K		No	ClinGen gnomAD
rs369766109 CA1206270	20	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA1206268 rs771191193	21	H>R		No	ClinGen ExAC gnomAD
CA1206269 rs774566958	21	H>Y		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	26	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs748440694 CA1206264	26	L>V		No	ClinGen ExAC TOPMed gnomAD
CA1206262 rs757983949	28	R>C		No	ClinGen ExAC gnomAD
CA1206261 rs139003041	28	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1290517346 CA343334927	29	M>V		No	ClinGen gnomAD
rs1176405724 CA343334883	32	I>V		No	ClinGen gnomAD
CA343334855 rs1417992004	34	G>D		No	ClinGen gnomAD
rs753739390 CA1206258	35	T>A		No	ClinGen ExAC gnomAD
CA31642930 rs12035264	35	T>I		No	ClinGen Ensembl
rs1312979732 CA343333887	39	H>N		No	ClinGen gnomAD
rs1557980013	39	H>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA343333880 rs1250682142	39	H>Q		No	ClinGen TOPMed gnomAD
rs768363451 CA31642924	40	R>G		No	ClinGen Ensembl
CA343333874 rs1437593336	40	R>S		No	ClinGen gnomAD
COSM1203305 CA343333857 rs1362953235	43	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
CA1206257 rs764036709	43	R>H		No	ClinGen ExAC gnomAD
CA343333837 rs1249027723	46	S>F		No	ClinGen TOPMed
CA1206254 rs767409874	49	F>L		No	ClinGen ExAC TOPMed gnomAD
CA343333820 rs1164852700	49	F>Y		No	ClinGen gnomAD
rs759662039 CA1206253	50	V>A		No	ClinGen ExAC gnomAD
rs774726648 CA1206252	51	D>N		No	ClinGen ExAC gnomAD
rs1557979904 CA343333802	52	V>I		No	ClinGen Ensembl
rs373053203 CA1206250	53	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA343333757 rs1269322616	58	R>C		No	ClinGen gnomAD
rs748758614 CA1206247	58	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA343333751 rs1357146985	59	G>V		No	ClinGen gnomAD
rs1417409121 COSM3710367 CA343333733	62	R>Q	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated TOPMed
rs769081971 CA1206245	65	R>C		No	ClinGen ExAC TOPMed gnomAD
rs745459751 CA1206244	65	R>H		No	ClinGen ExAC gnomAD
CA343333683 rs1370250592	69	L>F		No	ClinGen gnomAD
rs1213021017 CA343333688	69	L>V		No	ClinGen TOPMed gnomAD
CA31642818 rs868587185	71	L>V		No	ClinGen Ensembl
CA1206242 rs151010008	73	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA1206241 rs748771242	73	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1462057364 CA343333649	75	G>D		No	ClinGen TOPMed gnomAD
rs755999298 CA1206239	76	R>C		No	ClinGen ExAC gnomAD
CA343333643 rs1284065780	76	R>H		No	ClinGen gnomAD
CA1206237 rs767158548	78	D>G		No	ClinGen ExAC gnomAD
TCGA novel	78	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1571224301 CA343333602	79	E>Q		No	ClinGen Ensembl
rs1198455155 CA343333583	80	S>G		No	ClinGen gnomAD
CA343333545 rs1238677042	82	F>C		No	ClinGen gnomAD
rs751790653 CA343333543	82	F>L		No	ClinGen ExAC gnomAD
CA343333549 rs1172218177	82	F>L		No	ClinGen Ensembl
CA1206234 rs754848698 COSM530018	83	R>C	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs754848698 CA1206233	83	R>G		No	ClinGen ExAC TOPMed gnomAD
rs773422609 CA1206232	83	R>H		No	ClinGen ExAC gnomAD
rs751518775 CA31642786	84	Q>*		No	ClinGen Ensembl
CA31642785 rs974610635	87	Q>R		No	ClinGen Ensembl
TCGA novel	90	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs777202526 CA1206229	90	R>H		No	ClinGen ExAC gnomAD
CA343333426 rs1314195870	92	I>V		No	ClinGen gnomAD
CA1206228 rs200035776	94	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs766121975 CA31642782	95	H>Y		No	ClinGen TOPMed
rs770537234 CA1206225	97	L>V		No	ClinGen ExAC gnomAD
CA1206223 rs777136200	101	V>I		No	ClinGen ExAC gnomAD
CA343333131 rs1467092729	105	R>K		No	ClinGen gnomAD
rs781221087 CA343333070	107	R>L		No	ClinGen ExAC TOPMed gnomAD
rs781221087 CA1206220	107	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA1206221 COSM228277 rs139874657	107	R>W	skin [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs1313708204 CA343332945	110	C>Y		No	ClinGen gnomAD
CA343332899 rs1450062981	113	L>V		No	ClinGen gnomAD
CA343332869 rs1318503097	114	V>A		No	ClinGen TOPMed gnomAD
rs757465896 CA1206196	114	V>I		No	ClinGen ExAC TOPMed gnomAD
rs372926625 CA1206195	116	K>R		No	ClinGen ESP ExAC gnomAD
CA343332658 rs1442810663	123	I>S		No	ClinGen gnomAD
CA1206191 rs767805103	123	I>V		No	ClinGen ExAC gnomAD
CA1206190 rs759977685	124	R>C		No	ClinGen ExAC TOPMed gnomAD
rs1194091304 CA343332641	124	R>H		No	ClinGen TOPMed gnomAD
rs1446854250 CA343332625	125	Y>C		No	ClinGen gnomAD
rs572205717 CA31642572	125	Y>H		No	ClinGen 1000Genomes
CA1206188 rs769466281	126	V>L		No	ClinGen ExAC gnomAD
CA1206187 rs374736648	127	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1257358460 CA343332565	128	P>S		No	ClinGen gnomAD
CA343332504 rs933198992	131	L>F		No	ClinGen TOPMed gnomAD
rs933198992 CA31642538	131	L>V		No	ClinGen TOPMed gnomAD
rs1451049080 CA343332492	132	S>R		No	ClinGen TOPMed
CA343332455 rs1189184900	133	D>E		No	ClinGen TOPMed
CA31642498 rs768292725	134	P>S		No	ClinGen ExAC TOPMed gnomAD
CA1206185 rs768292725	134	P>T		No	ClinGen ExAC TOPMed gnomAD
CA1206184 rs75250474	137	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1206182 rs771941069	138	P>L		No	ClinGen ExAC gnomAD
rs775597637 CA1206183	138	P>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	140	Q>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs909080200 CA31642468	140	Q>R		No	ClinGen Ensembl
rs1456406519 CA343332296	141	P>S		No	ClinGen TOPMed
rs1425158102 CA343332007	145	V>A		No	ClinGen TOPMed
rs1364913134 CA343332218	145	V>M		No	ClinGen gnomAD
CA343331989 rs1306879147	146	P>L		No	ClinGen TOPMed
rs1571219332 CA343331921	149	Y>C		No	ClinGen Ensembl
rs778004213 CA1206159	150	P>S		No	ClinGen ExAC TOPMed gnomAD
CA343331895 rs1571219302	151	V>L		No	ClinGen Ensembl
rs375821148 CA31641860	152	V>M		No	ClinGen ESP
CA343331867 rs1203903878	153	C>Y		No	ClinGen gnomAD
rs1261001193 CA343331858	154	C>Y		No	ClinGen TOPMed gnomAD
CA343331846 rs1226962418	155	P>A		No	ClinGen TOPMed
rs937796246 CA31641824	157	S>L		No	ClinGen TOPMed gnomAD
rs755497175 CA1206155	158	G>S		No	ClinGen ExAC gnomAD
rs1339009294 CA343331763	159	P>L		No	ClinGen gnomAD
CA343331756 rs1470411683	160	Q>E		No	ClinGen gnomAD
rs926267043 CA343331735	160	Q>H		No	ClinGen TOPMed gnomAD
rs1272594122 CA343331726	161	M>L		No	ClinGen TOPMed
CA1206154 rs752019537	161	M>T		No	ClinGen ExAC TOPMed gnomAD
rs766698121 CA343331679	163	S>C		No	ClinGen ExAC TOPMed gnomAD
CA1206153 rs766698121	163	S>G		No	ClinGen ExAC TOPMed gnomAD
CA1206151 rs370630271	165	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs763229280 CA1206152	165	R>W		No	ClinGen ExAC TOPMed gnomAD
CA343331614 rs1244433565	166	P>T		No	ClinGen gnomAD
rs763812597 CA1206150	167	A>V		No	ClinGen ExAC gnomAD
COSM3385351 rs760440014 CA1206149	168	R>Q	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1283556060 CA343331537	170	R>T		No	ClinGen gnomAD
rs766997282 CA1206147	173	L>R		No	ClinGen ExAC gnomAD
CA1206146 rs759463050	174	G>R		No	ClinGen ExAC TOPMed gnomAD
CA343331448 rs1317207570	175	S>N		No	ClinGen gnomAD
TCGA novel	177	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs377566442 CA1206145	177	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA1206144 rs374707294 COSM1249930	179	R>C	oesophagus [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA31641768 rs923468936	179	R>H		No	ClinGen gnomAD
CA343331332 rs1433335418	180	R>P		No	ClinGen gnomAD
CA343331334 rs1433335418	180	R>Q		No	ClinGen gnomAD
CA1206142 rs773041210	183	V>M		No	ClinGen ExAC gnomAD
CA1206141 rs769972871	186	D>E		No	ClinGen ExAC gnomAD
CA343331194 rs1386601549	187	P>L		No	ClinGen gnomAD
rs534874719 CA1206140	188	K>M		No	ClinGen 1000Genomes ExAC gnomAD
rs534874719 CA1206139	188	K>R		No	ClinGen 1000Genomes ExAC gnomAD
CA1206138 rs768620883	189	E>Q		No	ClinGen ExAC gnomAD
CA343331138 rs1187899701	191	Q>E		No	ClinGen gnomAD
CA343330398 rs1448137956	194	D>G		No	ClinGen TOPMed
CA343330386 rs1172626377	195	I>V		No	ClinGen TOPMed
CA1206100 rs764189610	200	R>Q		No	ClinGen ExAC gnomAD
rs761020116 CA1206099	202	E>A		No	ClinGen ExAC gnomAD
CA31641254 rs556840173	207	E>A		No	ClinGen Ensembl
TCGA novel	207	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA343330204 rs1371971137	208	T>S		No	ClinGen gnomAD
rs1465749524 CA343330190	209	A>V		No	ClinGen TOPMed
rs1454373643 CA343330161	211	Q>H		No	ClinGen TOPMed
CA343330136 rs1337376405	214	V>I		No	ClinGen TOPMed
rs771376857 CA1206094	218	K>R		No	ClinGen ExAC gnomAD
CA343330039 rs1464314355	220	D>E		No	ClinGen gnomAD
rs1365480325 CA343330027	221	P>R		No	ClinGen TOPMed gnomAD
CA1206093 rs749594791	224	R>C		No	ClinGen ExAC gnomAD
TCGA novel	226	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs150690350 CA1206092	228	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA1206091 rs369105667	228	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
rs1022039125 CA31641218	233	N>S		No	ClinGen gnomAD
rs746734855 CA1206090	234	T>N		No	ClinGen ExAC gnomAD
TCGA novel	241	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1206088 rs757933885	243	S>C		No	ClinGen ExAC
CA1206087 rs750309176 COSM1639587	249	K>R	stomach [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
TCGA novel	250	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs765135748 CA1206086	264	I>V		No	ClinGen ExAC gnomAD
rs757224223 CA1206085	266	G>D		No	ClinGen ExAC gnomAD
rs1260856184 CA343328330	287	H>Q		No	ClinGen TOPMed
rs139146046 CA343328203	297	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1262577401	299	E>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1206077 rs771534658	305	R>*		No	ClinGen ExAC gnomAD
rs902106454 CA31641166	305	R>Q		No	ClinGen TOPMed
rs1174635815 CA343328087	306	Q>R		No	ClinGen TOPMed
CA31641164 rs199520966	310	R>K		No	ClinGen Ensembl
CA31641163 rs1040525800	312	L>F		No	ClinGen Ensembl
TCGA novel	313	M>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA343328002 rs1441102083	313	M>T		No	ClinGen gnomAD
CA1206076 rs749872816	314	L>P		No	ClinGen ExAC gnomAD
CA343327967 rs1488270308	316	A>T		No	ClinGen gnomAD
CA343327958 rs1284448276	316	A>V		No	ClinGen gnomAD
CA1206073 rs746601329	318	P>L		No	ClinGen ExAC gnomAD
rs746601329 CA1206074	318	P>R		No	ClinGen ExAC gnomAD

No associated diseases with O75618

1 regional properties for O75618

Type	Name	Position	InterPro Accession
domain	Death effector domain	24 - 107	IPR001875

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm Nucleus, nucleolus	Translocated to the nucleus during CD95-mediated apoptosis where it is localized in the nucleoli (By similarity) Following apoptosis induction, the mono and/or diubiquitination form increases and forms filamentous structures that colocalize with KRT8 and KRT18 intermediate filament network in simple epithelial cells
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.
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.

1 GO annotations of molecular function

Name	Definition
DNA binding	Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid).

6 GO annotations of biological process

Name	Definition
decidualization	The cellular and vascular changes occurring in the endometrium of the pregnant uterus just after the onset of blastocyst implantation. This process involves the proliferation and differentiation of the fibroblast-like endometrial stromal cells into large, polyploid decidual cells that eventually form the maternal component of the placenta.
extrinsic apoptotic signaling pathway via death domain receptors	The series of molecular signals in which a signal is conveyed from the cell surface to trigger the apoptotic death of a cell. The pathway starts with a ligand binding to a death domain receptor on the cell surface, and ends when the execution phase of apoptosis is triggered.
negative regulation of protein catabolic process	Any process that stops, prevents or reduces the frequency, rate or extent of protein catabolic process.
negative regulation of transcription of nucleolar large rRNA by RNA polymerase I	Any process that stops, prevents or reduces the frequency, rate or extent of transcription of nuclear large rRNA transcript mediated by RNA polymerase I.
regulation of apoptotic process	Any process that modulates the occurrence or rate of cell death by apoptotic process.
spermatogenesis	The developmental process by which male germ line stem cells self renew or give rise to successive cell types resulting in the development of a spermatozoa.

3 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q8WXF8	DEDD2	DNA-binding death effector domain-containing protein 2	Homo sapiens (Human)	PR
Q9Z1L3	Dedd	Death effector domain-containing protein	Mus musculus (Mouse)	PR
Q9Z2K0	Dedd	Death effector domain-containing protein	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MAGLKRRASQ	VWPEEHGEQE	HGLYSLHRMF	DIVGTHLTHR	DVRVLSFLFV	DVIDDHERGL
70	80	90	100	110	120
IRNGRDFLLA	LERQGRCDES	NFRQVLQLLR	IITRHDLLPY	VTLKRRRAVC	PDLVDKYLEE
130	140	150	160	170	180
TSIRYVTPRA	LSDPEPRPPQ	PSKTVPPHYP	VVCCPTSGPQ	MCSKRPARGR	ATLGSQRKRR
190	200	210	220	230	240
KSVTPDPKEK	QTCDIRLRVR	AEYCQHETAL	QGNVFSNKQD	PLERQFERFN	QANTILKSRD
250	260	270	280	290	300
LGSIICDIKF	SELTYLDAFW	RDYINGSLLE	ALKGVFITDS	LKQAVGHEAI	KLLVNVDEED
310
YELGRQKLLR	NLMLQALP