AiPD: Autoinhibited Protein Database

Q9UJQ7

Gene name	SCP2D1 (C20orf79)
Protein name	SCP2 sterol-binding domain-containing protein 1
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:140856
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-62 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-62 (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 Q9UJQ7

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q9UJQ7-F1	Predicted				AlphaFoldDB

125 variants for Q9UJQ7

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs903776476	1	M>?	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9778894 rs41308631	2	W>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9778895 rs747654523	3	K>R		No	ClinGen ExAC gnomAD
rs773306131 CA9778897	4	R>*		No	ClinGen ExAC gnomAD
rs1156848383 CA408476549	4	R>I		No	ClinGen gnomAD
CA408476566 rs368681702	6	D>E		No	ClinGen TOPMed gnomAD
rs1363108038 CA408476564	6	D>G		No	ClinGen gnomAD
rs1477923351 CA408476568	7	H>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1422415282 CA408476577	8	Q>E		No	ClinGen TOPMed
CA9778898 rs746925152	9	P>H		No	ClinGen ExAC gnomAD
CA408476587 rs746925152	9	P>L		No	ClinGen ExAC gnomAD
CA9778899 rs749940712	10	K>M		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	14	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	14	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA408476628 rs1221469689	15	D>A		No	ClinGen TOPMed
CA408476642 rs1600244407	17	P>H		No	ClinGen Ensembl
rs763146845 CA9778901	19	V>A		No	ClinGen ExAC gnomAD
rs776432081 CA9778900	19	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs764298632 CA408476666 CA9778902	21	Q>H		No	ClinGen ExAC gnomAD
CA408476680 rs1275508609	23	E>D		No	ClinGen gnomAD
CA312781630 rs7352233	23	E>G		No	ClinGen Ensembl
CA9778904 rs570598719	23	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA408476681 rs1286795657	24	V>I		No	ClinGen Ensembl
rs575292008 CA9778905	28	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
COSM108538 rs139167289 CA312781631	29	P>L	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1213300317 CA408476718	30	E>A		No	ClinGen gnomAD
CA9778906 rs750922065	30	E>D		No	ClinGen ExAC gnomAD
rs1481669814 CA408476721	31	P>T		No	ClinGen gnomAD
rs761177327 CA9778907	32	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs773937666 CA9778908	34	P>T		No	ClinGen ExAC gnomAD
rs1225600097 CA408476756	36	P>S		No	ClinGen TOPMed
CA9778909 rs372940690	38	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs754743457 CA9778910	40	S>P		No	ClinGen ExAC TOPMed gnomAD
rs1170738611 CA408476786	41	E>G		No	ClinGen TOPMed gnomAD
rs1460126036 CA408476800	43	E>*		No	ClinGen gnomAD
CA9778912 rs778688716	43	E>G		No	ClinGen ExAC gnomAD
rs374964954 CA9778913	44	S>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	44	S>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs758013817 CA9778914	45	F>L		No	ClinGen ExAC gnomAD
rs777271829 CA9778915	48	F>L		No	ClinGen ExAC gnomAD
rs1233000914 CA408476854	51	I>V		No	ClinGen gnomAD
CA9778917 rs200917149	52	R>K		No	ClinGen ExAC TOPMed gnomAD
CA408476866 rs1202666373	52	R>S		No	ClinGen gnomAD
CA408476871 rs1168007012	53	L>P		No	ClinGen TOPMed
CA9778918 rs192783577	57	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA408476931 rs1212952150	61	Q>R		No	ClinGen TOPMed gnomAD
CA408476953 rs1354299772	63	V>L		No	ClinGen Ensembl
CA408476965 rs1421362982	64	K>E		No	ClinGen gnomAD
CA408476993 rs1568708844	66	V>I		No	ClinGen Ensembl
TCGA novel	66	V>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs761978410 CA9778923	67	N>H		No	ClinGen ExAC gnomAD
rs1477308868 CA408477026	68	A>D		No	ClinGen TOPMed
CA408477038 rs1315379450	69	V>A		No	ClinGen gnomAD
rs138668529 CA9778926	69	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA312781636 rs908017068	73	D>V		No	ClinGen TOPMed
CA312781637 rs1032266276	74	I>S		No	ClinGen Ensembl
CA9778927 rs766902800	77	N>Y		No	ClinGen ExAC TOPMed gnomAD
rs940848927 CA312781638	78	G>E		No	ClinGen TOPMed
CA408477183 rs754193096	80	T>I		No	ClinGen ExAC TOPMed gnomAD
CA408477180 rs754193096	80	T>N		No	ClinGen ExAC TOPMed gnomAD
CA9778928 rs754193096	80	T>S		No	ClinGen ExAC TOPMed gnomAD
rs200564762 CA9778932	83	R>Q	Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs752403005 CA9778931	83	R>W		No	ClinGen ExAC gnomAD
rs1050346638 CA312781639	84	W>*		No	ClinGen TOPMed gnomAD
rs1278245252 CA408477245	85	T>S		No	ClinGen gnomAD
rs766942012 CA312781640	86	I>T		No	ClinGen TOPMed gnomAD
TCGA novel	89	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs751079747 CA9778934	89	K>R		No	ClinGen ExAC gnomAD
CA9778935 rs757184912	90	N>H		No	ClinGen ExAC gnomAD
rs781169917 CA9778936	91	G>D		No	ClinGen ExAC gnomAD
CA9778937 rs745753112	92	S>C		No	ClinGen ExAC gnomAD
rs769605850 CA9778938	93	G>W		No	ClinGen ExAC TOPMed gnomAD
CA9778941 rs772324911	95	M>I		No	ClinGen ExAC TOPMed gnomAD
CA9778940 rs748382845	95	M>T		No	ClinGen ExAC gnomAD
CA9778939 rs779754662	95	M>V		No	ClinGen ExAC TOPMed gnomAD
CA408477380 rs1160465083	96	Y>C		No	ClinGen gnomAD
CA9778942 rs773230277	97	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1053839 CA9778944 VAR_024332	99	P>S		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA408477435 rs1568708944	101	R>M		No	ClinGen Ensembl
rs1568708944 CA408477433	101	R>T		No	ClinGen Ensembl
CA9778946 rs372267357	102	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs1568708960 CA408477451	103	P>T		No	ClinGen Ensembl
rs904904596 CA312781641	105	D>N		No	ClinGen TOPMed
CA312781642 rs754845982	106	T>A		No	ClinGen Ensembl
CA408477500 rs1454576815	107	V>L		No	ClinGen TOPMed gnomAD
CA9778949 rs200754774	109	T>I	Variant assessed as Somatic; 0.0001386 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA312781643 rs200754774	109	T>K		No	ClinGen ExAC TOPMed gnomAD
CA408477531 rs1224274568	110	I>V		No	ClinGen gnomAD
rs376844337 CA9778951	111	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	112	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs149769867 CA9778953	112	E>V		No	ClinGen ESP ExAC gnomAD
rs766894967 CA9778954	114	V>A		No	ClinGen ExAC TOPMed gnomAD
CA408477630 rs1240766571	117	E>G		No	ClinGen TOPMed
CA9778955 rs750360233	119	V>I		No	ClinGen ExAC gnomAD
rs900771606 CA312781644	120	L>S		No	ClinGen gnomAD
TCGA novel	120	L>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9778957 rs114562166	121	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9778958 rs749077593	122	K>Q		No	ClinGen ExAC gnomAD
TCGA novel	123	M>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA408477677 rs1158953287	124	N>K		No	ClinGen gnomAD
rs199771854 CA312781645	124	N>S		No	ClinGen 1000Genomes
rs376746299 CA9778961	125	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs376746299 CA312781646	125	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA9778960 rs758586681	125	P>S		No	ClinGen ExAC gnomAD
rs758586681 CA9778959	125	P>T		No	ClinGen ExAC gnomAD
CA408477684 rs1330608653	126	Q>R		No	ClinGen gnomAD
CA408477693 rs1330303429	127	K>M		No	ClinGen TOPMed gnomAD
rs746436152 CA9778964	130	L>F		No	ClinGen ExAC gnomAD
rs770424396 CA9778965	130	L>P		No	ClinGen ExAC TOPMed gnomAD
rs1227690200 CA408477717	131	A>D		No	ClinGen gnomAD
CA408477714 rs1419590872	131	A>T		No	ClinGen TOPMed
rs145424400 CA9778967	132	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	133	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1413187586 CA408477731	133	K>N		No	ClinGen TOPMed
TCGA novel	133	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1180325957 CA408477761	137	S>R		No	ClinGen TOPMed
rs1478964529 CA408477768 COSM331205	138	G>V	lung [Cosmic]	No	ClinGen cosmic curated TOPMed
CA408477774 rs1265023747	139	K>R		No	ClinGen TOPMed
rs147618397 CA9778970	140	V>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA312781649 rs147618397	140	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA408477792 rs1490846604	143	S>R		No	ClinGen gnomAD
rs761302755 CA9778971	148	R>G		No	ClinGen ExAC TOPMed gnomAD
CA9778972 rs767064039	151	K>E		No	ClinGen ExAC TOPMed gnomAD
rs749920306 CA9778973	153	W>*		No	ClinGen ExAC gnomAD
rs756110840 CA9778974	155	K>E		No	ClinGen ExAC gnomAD

No associated diseases with Q9UJQ7

1 regional properties for Q9UJQ7

Type	Name	Position	InterPro Accession
domain	SCP2 sterol-binding domain	58 - 151	IPR003033

Functions

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

No GO annotations of cellular component

Name	Definition
No GO annotations for cellular component

1 GO annotations of molecular function

Name	Definition
sterol binding	Binding to a sterol, a steroid containing a hydroxy group in the 3 position, closely related to cholestan-3-ol.

3 GO annotations of biological process

Name	Definition
phospholipid transport	The directed movement of phospholipids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Phospholipids are any lipids containing phosphoric acid as a mono- or diester.
positive regulation of intracellular cholesterol transport	Any process that activates or increases the frequency, rate or extent of the directed movement of cholesterol within cells.
steroid biosynthetic process	The chemical reactions and pathways resulting in the formation of steroids, compounds with a 1,2,cyclopentanoperhydrophenanthrene nucleus; includes de novo formation and steroid interconversion by modification.

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q2TBS3	SCP2D1	SCP2 sterol-binding domain-containing protein 1	Bos taurus (Bovine)	PR

10	20	30	40	50	60
MWKRSDHQPK	IKAEDGPLVG	QFEVLGSVPE	PAMPHPLELS	EFESFPVFQD	IRLHIREVGA
70	80	90	100	110	120
QLVKKVNAVF	QLDITKNGKT	ILRWTIDLKN	GSGDMYPGPA	RLPADTVFTI	PESVFMELVL
130	140	150
GKMNPQKAFL	AGKFKVSGKV	LLSWKLERVF	KDWAKF