AiPD: Autoinhibited Protein Database

O95772

Gene name	STARD3NL
Protein name	STARD3 N-terminal-like protein
Names	MLN64 N-terminal domain homolog
Species	Homo sapiens (Human)
KEGG Pathway	hsa:83930
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-54 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-54 (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 O95772

Entry ID	Method	Resolution	Chain	Position	Source
AF-O95772-F1	Predicted				AlphaFoldDB

164 variants for O95772

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs766409769 CA4223356	5	P>L		No	ClinGen ExAC TOPMed gnomAD
CA4223357 rs776780254	7	D>G		No	ClinGen ExAC TOPMed gnomAD
rs1212324312 CA367223739	7	D>H		No	ClinGen gnomAD
rs776780254 CA367223742	7	D>V		No	ClinGen ExAC TOPMed gnomAD
rs759554337 CA4223358	8	M>L		No	ClinGen ExAC gnomAD
CA367223748 rs1212748757	8	M>T		No	ClinGen TOPMed gnomAD
rs759554337 CA367223746	8	M>V		No	ClinGen ExAC gnomAD
rs752557250 CA367223770	11	A>S		No	ClinGen ExAC TOPMed gnomAD
rs752557250 CA4223360	11	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1247822475 CA367223774	12	L>F		No	ClinGen gnomAD
CA367223785 rs1475102061	13	T>I		No	ClinGen gnomAD
CA367223784 rs1475102061	13	T>S		No	ClinGen gnomAD
CA4223363 rs139771990 CA4223364	14	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA367223789 rs1478262467	14	G>V		No	ClinGen gnomAD
CA4223365 rs780533970	15	S>G		No	ClinGen ExAC gnomAD
CA157165478 rs376203945	16	Q>R		No	ClinGen ESP TOPMed gnomAD
CA367223809 rs1324082644	17	S>I		No	ClinGen TOPMed gnomAD
CA367223804 rs1406901141	17	S>R		No	ClinGen gnomAD
rs1014661155 CA157165479	17	S>R		No	ClinGen Ensembl
rs11547101 CA367223814	18	S>C		No	ClinGen gnomAD
CA367223811 rs1307099525	18	S>T		No	ClinGen TOPMed
rs11547101 CA157165480	18	S>Y		No	ClinGen gnomAD
rs779108893 CA4223368	19	H>P		No	ClinGen ExAC gnomAD
CA4223370 rs772162881	19	H>Q		No	ClinGen ExAC gnomAD
rs779108893 CA4223369	19	H>R		No	ClinGen ExAC gnomAD
rs755503425 CA4223367	19	H>Y		No	ClinGen ExAC gnomAD
rs778119963 CA4223371	20	A>P		No	ClinGen ExAC gnomAD
CA4223372 rs749040997	23	R>C	Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA367223838 rs1230414650	23	R>H		No	ClinGen TOPMed gnomAD
CA367223855 rs1409422555	25	I>M		No	ClinGen TOPMed gnomAD
CA367223856 rs1291085966	26	H>N		No	ClinGen gnomAD
CA367223860 rs1329679255	26	H>R		No	ClinGen TOPMed gnomAD
rs144473137 CA4223373	27	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs144473137 CA4223374	27	S>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA367223875 rs1214348408	29	N>H		No	ClinGen gnomAD
CA367223880 rs1455554387	29	N>I		No	ClinGen TOPMed
CA367223886 rs1265419960	30	P>H		No	ClinGen gnomAD
CA4223375 rs145400559	31	T>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA157165561 rs1047102746	32	Q>R		No	ClinGen TOPMed
rs1415998182 CA367223905	33	L>R		No	ClinGen TOPMed gnomAD
CA367223915 rs1473921192	34	M>I		No	ClinGen TOPMed gnomAD
CA367223911 rs1417888575	34	M>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1163603776 CA367223920	35	A>V		No	ClinGen gnomAD
CA367223924 rs1407059177	36	R>K		No	ClinGen TOPMed gnomAD
CA367223925 rs1407059177	36	R>T		No	ClinGen TOPMed gnomAD
CA157165583 rs969669344	38	E>D		No	ClinGen Ensembl
CA367223953 rs1384002976	40	Y>C		No	ClinGen TOPMed gnomAD
CA367223962 rs1360538408	41	E>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs775112688 CA4223377	42	G>R		No	ClinGen ExAC gnomAD
CA367223972 rs1286234851	43	R>K		No	ClinGen TOPMed
CA367223986 rs1247652982	45	K>E		No	ClinGen gnomAD
TCGA novel	45	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1215281486 CA367223988	45	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA367223995 rs1310652315	46	K>E		No	ClinGen gnomAD
CA367224004 rs1350828875	47	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA367224009 rs1294676347	48	I>V		No	ClinGen TOPMed
CA4223378 rs762851533	51	V>I		No	ClinGen ExAC gnomAD
CA367224040 rs1285139225	53	R>G		No	ClinGen gnomAD
TCGA novel	53	R>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs770608944 CA157165594	53	R>T		No	ClinGen Ensembl
CA367224073 rs1340335580	57	L>F		No	ClinGen TOPMed
CA367224080 rs1311039414	58	F>S		No	ClinGen TOPMed
CA367224094 rs1294985342	60	T>I		No	ClinGen gnomAD
rs766953026 CA4223382	64	L>V		No	ClinGen ExAC gnomAD
CA367224124 rs1362947548	65	F>L		No	ClinGen TOPMed
rs996270147 CA157165624	66	V>I		No	ClinGen TOPMed gnomAD
rs1254231114 CA367224175	72	I>M		No	ClinGen gnomAD
CA157165629 rs1032363189	72	I>T		No	ClinGen Ensembl
CA4223386 rs752990456	74	L>I		No	ClinGen ExAC gnomAD
CA367224184 rs752990456	74	L>V		No	ClinGen ExAC gnomAD
TCGA novel	76	V>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA157170121 rs1040080762	81	E>Q		No	ClinGen TOPMed gnomAD
rs769592313 CA4223394	83	T>I		No	ClinGen ExAC gnomAD
CA367224274 rs1191739969	85	E>G		No	ClinGen gnomAD
rs1290154704 CA367224288	87	E>K		No	ClinGen TOPMed
CA4223396 rs762651219	88	V>L		No	ClinGen ExAC gnomAD
rs1393836049 CA367224305	89	M>I		No	ClinGen gnomAD
CA367224320 rs1333776216	91	Y>C		No	ClinGen gnomAD
rs1224206798 CA367224326	92	D>N		No	ClinGen TOPMed
CA367224344 rs1401568173	94	Y>C		No	ClinGen gnomAD
rs774143220 CA4223398	95	S>Y		No	ClinGen ExAC gnomAD
rs767198270 CA4223400 COSM187172	99	D>G	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs767198270 CA157170147 COSM1089468	99	D>V	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1332852861 CA367224377	99	D>Y		No	ClinGen gnomAD
CA367224382 rs1562618795	100	I>V		No	ClinGen Ensembl
CA4223423 rs267601506	107	R>*		No	ClinGen ESP ExAC gnomAD
rs760254369 CA367224440	107	R>L		No	ClinGen ExAC gnomAD
CA4223424 rs760254369 COSM1622826	107	R>Q	Variant assessed as Somatic; 0.0 impact. liver [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1183764237 CA367224493	115	Y>C		No	ClinGen TOPMed
rs940455413 CA157170659	117	V>L		No	ClinGen gnomAD
CA367224516 rs1370617065	119	R>G		No	ClinGen gnomAD
rs757750374 CA4223430	119	R>I		No	ClinGen ExAC TOPMed gnomAD
rs767844751 CA4223431	121	R>C		No	ClinGen ExAC gnomAD
rs750591308 CA4223432	121	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA367224535 rs1197878469	122	H>R		No	ClinGen Ensembl
rs1351985970 CA367224541	123	W>G		No	ClinGen TOPMed
CA367224565 rs1237314416	126	I>K		No	ClinGen TOPMed
rs574853669 CA4223434	126	I>V		No	ClinGen ExAC gnomAD
COSM746972 CA4223435 rs749369688	127	A>V	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs778969449 CA4223454 COSM1450602	130	T>A	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA4223455 rs752576439 COSM76609	130	T>M	ovary large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA157172247 rs767014652	132	V>G		No	ClinGen Ensembl
CA367224608 rs1562620977	132	V>M		No	ClinGen Ensembl
CA367224620 rs1483759753	134	S>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA157172255 rs1005342343	135	A>T		No	ClinGen TOPMed
CA367224666 rs1198386242	141	V>M		No	ClinGen gnomAD
CA367224675 rs1188895987	142	I>N		No	ClinGen TOPMed
TCGA novel	143	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1339281795 CA367224724	147	F>L		No	ClinGen gnomAD
rs1268225237 CA367224720	147	F>Y		No	ClinGen TOPMed
rs757062566 CA4223477	148	S>C		No	ClinGen ExAC gnomAD
rs781042419 CA4223478	149	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA367224745 rs1243866763	151	A>P		No	ClinGen TOPMed gnomAD
CA4223479 rs745458803	158	I>V		No	ClinGen ExAC gnomAD
CA367224800 rs1271220960	159	I>T		No	ClinGen TOPMed
rs779669492 CA4223481	162	I>V		No	ClinGen ExAC gnomAD
rs564690290 CA4223482	168	T>M		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	169	W>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4223484 rs773660378	175	V>M		No	ClinGen ExAC gnomAD
rs761249192 CA4223485	177	P>L		No	ClinGen ExAC gnomAD
CA4223486 rs771143236	178	Q>K		No	ClinGen ExAC TOPMed gnomAD
CA4223487 rs777006591	179	E>G		No	ClinGen ExAC gnomAD
TCGA novel	180	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1165415606 CA367224950	181	E>A		No	ClinGen gnomAD
CA367224951 rs1165415606	181	E>G		No	ClinGen gnomAD
rs765485844 CA4223490	182	E>G		No	ClinGen ExAC gnomAD
CA367224955 rs1359298655	182	E>K		No	ClinGen gnomAD
CA367224994 rs1294223176	185	R>S		No	ClinGen TOPMed
CA157173975 rs995806601	186	L>F		No	ClinGen Ensembl
rs1238684132 CA367225008	188	I>L		No	ClinGen gnomAD
rs763237665 CA4223509	189	V>G		No	ClinGen ExAC gnomAD
rs764019505 CA4223510	191	D>N		No	ClinGen ExAC TOPMed gnomAD
CA367225043 rs1236799534	193	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs141932676 CA4223512	195	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs767601192 CA4223513	196	A>V		No	ClinGen ExAC gnomAD
rs751403525 CA157174034	198	L>F		No	ClinGen Ensembl
rs761763300 CA4223515	199	I>T		No	ClinGen ExAC TOPMed gnomAD
rs1562623291 CA367225084	200	P>R		No	ClinGen Ensembl
COSM223151 rs766282996 CA4223516	200	P>S	skin [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs766282996 CA4223517	200	P>T		No	ClinGen ExAC gnomAD
rs370959986 CA4223520	201	G>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA4223519 rs754682652	201	G>C		No	ClinGen ExAC gnomAD
CA367225102 rs1205898814	204	S>P		No	ClinGen gnomAD
CA367225116 rs1562623367	206	G>R		No	ClinGen Ensembl
TCGA novel	209	Y>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA157174078 rs1011541915	211	P>L		No	ClinGen TOPMed gnomAD
rs1400034194 CA367225161	212	P>L		No	ClinGen gnomAD
CA367225168 rs1286569477	213	E>D		No	ClinGen gnomAD
CA367225164 rs1194155105	213	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA367225167 rs1333980084	213	E>V		No	ClinGen gnomAD
CA4223524 rs746224484	214	S>T		No	ClinGen ExAC gnomAD
rs141608996 CA4223527	215	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
CA4223528 rs768953294	216	A>T		No	ClinGen ExAC gnomAD
CA367225225 rs1208061569	220	E>K		No	ClinGen gnomAD
rs780356081 CA4223543	221	A>D		No	ClinGen ExAC gnomAD
TCGA novel	221	A>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1268769693 CA367225231	221	A>T		No	ClinGen gnomAD
CA4223545 rs144429501	222	E>A		No	ClinGen ESP ExAC TOPMed
CA4223547 rs367896438	225	Q>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA367225270 rs1172968854	226	D>G		No	ClinGen gnomAD
rs199784906 CA4223549	227	S>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4223550 rs773449340	227	S>N		No	ClinGen ExAC TOPMed gnomAD
rs760650706 CA4223551	230	P>S		No	ClinGen ExAC gnomAD
CA4223553 rs776270393	234	L>P		No	ClinGen ExAC gnomAD

No associated diseases with O95772

1 regional properties for O95772

Type	Name	Position	InterPro Accession
domain	MENTAL domain	48 - 218	IPR019498

Functions

		Description
EC Number
Subcellular Localization	Late endosome membrane ; Multi-pass membrane protein	Localizes to contact sites between the endoplasmic reticulum and late endosomes: associates with the endoplasmic reticulum membrane via interaction with VAPA, VAPB or MOSPD2
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

9 GO annotations of cellular component

Name	Definition
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
endoplasmic reticulum-endosome membrane contact site	A contact site between the endoplasmic reticulum membrane and the endosome membrane.
endosome	A vacuole to which materials ingested by endocytosis are delivered.
integral component of membrane	The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
intracellular membrane-bounded organelle	Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane.
late endosome membrane	The lipid bilayer surrounding a late endosome.
lysosomal membrane	The lipid bilayer surrounding the lysosome and separating its contents from the cell cytoplasm.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
organelle membrane contact site	A zone of apposition between the membranes of an organelle with another membrane, either another membrane of the same organelle, a membrane of another organelle, or the plasma membrane. Membrane contact sites (MCSs) are structured by bridging complexes. They are specialized for communication, including the efficient traffic of small molecules such as Ca2+ ions and lipids, as well as enzyme-substrate interactions.

2 GO annotations of molecular function

Name	Definition
cholesterol binding	Binding to cholesterol (cholest-5-en-3-beta-ol); the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones.
protein homodimerization activity	Binding to an identical protein to form a homodimer.

2 GO annotations of biological process

Name	Definition
cholesterol transport	The directed movement of cholesterol, cholest-5-en-3-beta-ol, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
vesicle tethering to endoplasmic reticulum	The initial, indirect interaction between a transport vesicle membrane and the membrane of the endoplasmic reticulum. This interaction is mediated by tethering factors (or complexes), which interact with both membranes. Interaction can occur via direct binding to membrane phospholipids or membrane proteins, or via binding to vesicle coat proteins. This process is distinct from and prior fusion.

4 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q14849	STARD3	StAR-related lipid transfer protein 3	Homo sapiens (Human)	PR
Q61542	Stard3	StAR-related lipid transfer protein 3	Mus musculus (Mouse)	PR
Q9DCI3	Stard3nl	STARD3 N-terminal-like protein	Mus musculus (Mouse)	PR
O17883	strl-1	Steroidogenic acute regulatory-like protein 1	Caenorhabditis elegans	PR

10	20	30	40	50	60
MNHLPEDMEN	ALTGSQSSHA	SLRNIHSINP	TQLMARIESY	EGREKKGISD	VRRTFCLFVT
70	80	90	100	110	120
FDLLFVTLLW	IIELNVNGGI	ENTLEKEVMQ	YDYYSSYFDI	FLLAVFRFKV	LILAYAVCRL
130	140	150	160	170	180
RHWWAIALTT	AVTSAFLLAK	VILSKLFSQG	AFGYVLPIIS	FILAWIETWF	LDFKVLPQEA
190	200	210	220	230
EEENRLLIVQ	DASERAALIP	GGLSDGQFYS	PPESEAGSEE	AEEKQDSEKP	LLEL