AiPD: Autoinhibited Protein Database

Q9BZD6

Gene name	PRRG4
Protein name	Transmembrane gamma-carboxyglutamic acid protein 4
Names	Proline-rich gamma-carboxyglutamic acid protein 4, Proline-rich Gla protein 4
Species	Homo sapiens (Human)
KEGG Pathway	hsa:79056
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

162-226 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

162-226 (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 Q9BZD6

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q9BZD6-F1	Predicted				AlphaFoldDB

145 variants for Q9BZD6

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA5935809 rs753074313	3	T>M		No	ClinGen ExAC gnomAD
CA380104878 rs753074313	3	T>R		No	ClinGen ExAC gnomAD
CA380104891 rs754003985	6	V>F		No	ClinGen ExAC TOPMed gnomAD
rs754003985 CA5935812	6	V>I		No	ClinGen ExAC TOPMed gnomAD
CA380104902 rs1210373367	8	L>F		No	ClinGen TOPMed
rs779013503 CA5935814	13	T>A		No	ClinGen ExAC
rs941265108 CA220364243	13	T>K		No	ClinGen TOPMed gnomAD
CA5935817 rs780892925	19	P>S		No	ClinGen ExAC gnomAD
rs1264822267 CA380104977	20	H>R		No	ClinGen gnomAD
rs1199832016 CA380104987	21	C>*		No	ClinGen gnomAD
rs1483425149 CA380104983	21	C>G		No	ClinGen gnomAD
CA380104998 rs1327015544	23	R>T		No	ClinGen TOPMed
rs1253914249 CA380105007	24	G>V		No	ClinGen gnomAD
CA5935818 rs747938712	26	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1565111738 CA380105022	27	A>S		No	ClinGen Ensembl
TCGA novel	30	H>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5935821 rs773001062	30	H>P		No	ClinGen ExAC gnomAD
rs373808023 CA220364246	30	H>Y		No	ClinGen ESP TOPMed gnomAD
rs762651680 CA5935822	31	A>S		No	ClinGen ExAC TOPMed gnomAD
rs762651680 CA5935823	31	A>T		No	ClinGen ExAC TOPMed gnomAD
rs61889489 CA5935824	31	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA380105053 rs1399329676	32	G>E		No	ClinGen gnomAD
rs1301618958 CA380105050	32	G>R		No	ClinGen TOPMed gnomAD
rs33962176 VAR_051443 CA5935826	33	E>K		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
TCGA novel	35	V>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA220364247 rs979403442	35	V>L		No	ClinGen TOPMed
CA220364828 rs920572879	38	S>L		No	ClinGen TOPMed
CA380105399 rs1172435748	40	E>K		No	ClinGen gnomAD
CA380105417 rs1224888762	41	E>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs764468079 CA5935849	41	E>D		No	ClinGen ExAC gnomAD
rs776961648 CA5935850	47	H>P		No	ClinGen ExAC TOPMed gnomAD
CA380105497 rs776961648	47	H>R		No	ClinGen ExAC TOPMed gnomAD
CA5935852 rs765496490	49	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA5935853 rs750549239	49	R>H		No	ClinGen ExAC TOPMed gnomAD
rs758505991 CA5935854	52	Y>C		No	ClinGen ExAC gnomAD
CA380105675 rs1427098868	61	T>I		No	ClinGen gnomAD
CA5935856 rs756989868	63	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1441861753 CA380105754	68	E>G		No	ClinGen gnomAD
CA380105792 rs1435462943	71	E>A		No	ClinGen gnomAD
TCGA novel	72	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs144203246 CA5935858	73	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs756917342 CA5935860	76	Y>F		No	ClinGen ExAC gnomAD
TCGA novel	80	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	80	R>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs895544693 CA220364830	84	V>M		No	ClinGen Ensembl
CA220364831 rs778682926	86	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA5935861 rs369625767	89	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	92	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA380106006 rs1254000786	93	W>C		No	ClinGen TOPMed
rs777051469 CA5935869	94	Q>R		No	ClinGen ExAC gnomAD
CA5935870 rs762227818	96	Y>*		No	ClinGen ExAC gnomAD
CA5935871 rs765449763	98	A>T		No	ClinGen ExAC gnomAD
rs1271079906 CA380106052	100	G>E		No	ClinGen TOPMed gnomAD
rs1467308549 CA380106049	100	G>R		No	ClinGen TOPMed
CA380106055 rs763034261	101	P>A		No	ClinGen ExAC gnomAD
rs763034261 CA5935873	101	P>S		No	ClinGen ExAC gnomAD
TCGA novel	102	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA380106076 rs1437492520	104	K>N		No	ClinGen TOPMed gnomAD
CA5935874 rs372423109	104	K>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA380106085 rs1182214669	106	D>H		No	ClinGen gnomAD
rs892197439 CA220365165	107	G>V		No	ClinGen Ensembl
CA5935888 rs781664633	110	E>G		No	ClinGen ExAC gnomAD
CA5935889 rs566466906	112	I>T		No	ClinGen 1000Genomes ExAC gnomAD
CA5935890 rs137899277	115	M>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA380106160 rs1252169393	115	M>V		No	ClinGen TOPMed
rs1207888453 CA380106170	116	G>V		No	ClinGen gnomAD
rs773424904 CA5935891	117	L>F		No	ClinGen ExAC gnomAD
CA5935892 rs763274560	117	L>P		No	ClinGen ExAC gnomAD
CA380106193 rs1181012758	120	G>V		No	ClinGen gnomAD
rs1024695960 CA220365166	122	I>M		No	ClinGen gnomAD
rs1173015489 CA380106210	123	A>D		No	ClinGen gnomAD
CA380106225 rs1412737843	126	V>I		No	ClinGen gnomAD
TCGA novel	128	L>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5935895 rs759701829	130	I>S		No	ClinGen ExAC TOPMed
CA598482547 rs1170357836	131	F>L		No	ClinGen gnomAD
CA598482551 rs1409217685	132	G>FIKI*		No	ClinGen gnomAD
CA380106271 rs1336015772	132	G>V		No	ClinGen TOPMed
rs1306420755 CA598482553	133	L>F		No	ClinGen gnomAD
rs767638243 CA5935896	134	L>F		No	ClinGen ExAC gnomAD
rs753846174 CA5935897	136	Y>C		No	ClinGen ExAC gnomAD
CA5935898 rs761609051	137	Y>H		No	ClinGen ExAC gnomAD
rs1329938268 CA380106304	138	L>F		No	ClinGen gnomAD
rs1365866251 CA380106328	141	T>N		No	ClinGen gnomAD
rs34736080 VAR_051444 CA220365167	143	C>R		No	ClinGen UniProt Ensembl dbSNP
CA5935899 rs765130727	143	C>Y		No	ClinGen ExAC TOPMed gnomAD
rs750157035 CA5935901	144	N>K		No	ClinGen ExAC gnomAD
rs1439338661 CA380106353	145	R>W		No	ClinGen TOPMed gnomAD
rs779671208 CA5935902	147	Q>*		No	ClinGen ExAC gnomAD
CA380106367 rs1303233647	147	Q>R		No	ClinGen gnomAD
CA380106382 rs1203886545	149	P>L		No	ClinGen gnomAD
rs551757808	150	C>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1199106952 CA380106389	150	C>F		No	ClinGen gnomAD
COSM3375781 rs142455444 CA5935903	150	C>R	pancreas [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs386752247 CA220366397	151	S>N		No	ClinGen Ensembl
CA5935917 rs143123252	151	S>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5935918 rs148253975	151	S>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5935920 rs199814869	154	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA380105114 rs762754429	155	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs762754429 CA5935921	155	Y>F		No	ClinGen ExAC TOPMed gnomAD
CA380105128 rs766117931	157	R>M		No	ClinGen ExAC gnomAD
rs766117931 CA5935922	157	R>T		No	ClinGen ExAC gnomAD
CA5935923 rs201924848	162	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA380105164 rs1392627330	163	S>P		No	ClinGen gnomAD
rs1459015170 CA380105175	164	I>M		No	ClinGen gnomAD
CA380105170 rs1470656041	164	I>V		No	ClinGen TOPMed
CA380105179 rs1388337763	165	I>T		No	ClinGen gnomAD
rs754599466 CA5935924	165	I>V		No	ClinGen ExAC TOPMed gnomAD
CA380105189 rs1336672859	166	F>L		No	ClinGen gnomAD
CA5935925 rs767092665	170	E>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs756701088 CA5935927	171	E>A		No	ClinGen ExAC gnomAD
rs1194344055 CA380105229	172	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1268548994 CA380105250 COSM687504	176	P>A	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA5935930 VAR_051445 rs34139105	176	P>Q		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs909218619 CA220366398	178	P>L		No	ClinGen TOPMed gnomAD
CA5935933 rs143372216	179	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1227868573 CA380105279	181	V>L		No	ClinGen TOPMed
CA220366399 rs147146504	182	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed gnomAD
rs201564458 CA5935935	182	E>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs768710286 CA5935936	184	A>T		No	ClinGen ExAC TOPMed gnomAD
rs189390231 CA5935937	185	G>E		No	ClinGen 1000Genomes ExAC gnomAD
rs189390231 CA5935938	185	G>V		No	ClinGen 1000Genomes ExAC gnomAD
CA5935939 rs374338424	189	Y>H		No	ClinGen ESP ExAC gnomAD
rs138704678 CA5935941	194	A>T		No	ClinGen ESP ExAC
CA5935942 COSM290830 rs767074713	194	A>V	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs763610901 CA5935945	197	R>G		No	ClinGen ExAC gnomAD
rs757807250 CA5935947	200	S>R		No	ClinGen ExAC gnomAD
CA380105519 rs1394870997	203	P>A		No	ClinGen TOPMed
TCGA novel	203	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA380105560 rs1399243642	206	P>L		No	ClinGen TOPMed
rs144327688 CA5935948	208	P>T		No	ClinGen ESP ExAC TOPMed
CA5935949 rs746219447	209	G>R		No	ClinGen ExAC gnomAD
CA220366400 rs370307405	210	H>Y		No	ClinGen Ensembl
CA5935951 rs780139876	213	G>A		No	ClinGen ExAC gnomAD
TCGA novel	213	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5935950 rs758710910	213	G>R		No	ClinGen ExAC TOPMed gnomAD
rs747191600 CA5935952	214	F>Y		No	ClinGen ExAC gnomAD
rs768653468 CA5935953	215	R>T		No	ClinGen ExAC gnomAD
CA5935955 rs148780678	216	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs774200417 CA5935957	219	K>N		No	ClinGen ExAC gnomAD
rs1178781319 CA380105763	220	S>P		No	ClinGen gnomAD
CA380105787 rs1466025322	221	M>I		No	ClinGen gnomAD
CA5935958 rs142407881	221	M>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA380105847 rs1373094458	225	S>F		No	ClinGen gnomAD
CA220366401 rs905581486	226	H>Y		No	ClinGen gnomAD
rs1565118808 CA380105869	227	H>G		No	ClinGen Ensembl

No associated diseases with Q9BZD6

5 regional properties for Q9BZD6

Type	Name	Position	InterPro Accession
domain	IPT domain	255 - 339	IPR002909
conserved_site	Transcription factor COE, conserved site	162 - 171	IPR018350
domain	Transcription factor COE, DNA-binding domain	22 - 248	IPR032200
domain	Transcription factor COE, helix-loop-helix domain	341 - 384	IPR032201
domain	Transcription factor COE, IPT domain	256 - 340	IPR038006

Functions

		Description
EC Number
Subcellular Localization	Endoplasmic reticulum-Golgi intermediate compartment membrane ; Single-pass type I membrane protein Cell membrane ; Single-pass type I membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

4 GO annotations of cellular component

Name	Definition
endoplasmic reticulum-Golgi intermediate compartment membrane	The lipid bilayer surrounding any of the compartments of the endoplasmic reticulum (ER)-Golgi intermediate compartment system.
extracellular region	The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite.
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.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

2 GO annotations of molecular function

Name	Definition
calcium ion binding	Binding to a calcium ion (Ca2+).
WW domain binding	Binding to a WW domain of a protein, a small module composed of 40 amino acids and plays a role in mediating protein-protein interactions via proline-rich regions.

No GO annotations of biological process

Name	Definition
No GO annotations for biological process

2 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P0CW18	PRSS56	Serine protease 56	Homo sapiens (Human)	PR
Q8BGN6	Prrg4	Transmembrane gamma-carboxyglutamic acid protein 4	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MFTLLVLLSQ	LPTVTLGFPH	CARGPKASKH	AGEEVFTSKE	EANFFIHRRL	LYNRFDLELF
70	80	90	100	110	120
TPGNLERECN	EELCNYEEAR	EIFVDEDKTI	AFWQEYSAKG	PTTKSDGNRE	KIDVMGLLTG
130	140	150	160	170	180
LIAAGVFLVI	FGLLGYYLCI	TKCNRLQHPC	SSAVYERGRH	TPSIIFRRPE	EAALSPLPPS
190	200	210	220
VEDAGLPSYE	QAVALTRKHS	VSPPPPYPGH	TKGFRVFKKS	MSLPSH