AiPD: Autoinhibited Protein Database

P04001

Gene name	OPN1MW
Protein name	Medium-wave-sensitive opsin 1
Names	Green cone photoreceptor pigment, Green-sensitive opsin, GOP
Species	Homo sapiens (Human)
KEGG Pathway	hsa:728458
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-60 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-60 (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 P04001

Entry ID	Method	Resolution	Chain	Position	Source
AF-P04001-F1	Predicted				AlphaFoldDB

108 variants for P04001

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA255285 rs104894915 VAR_064051 RCV000011258	94	N>K	Deuteranomaly CBD [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
CA121107 RCV000011259 rs267606927 VAR_064052	177	W>R	Cone dystrophy 5, X-linked COD5; results in protein misfolding and retention in the endoplasmic reticulum [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs104894914 RCV000011257 CA121106 RCV000011254 VAR_004841	203	C>R	Deuteranopia Cone monochromatism CBD and BCM [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs104894916 VAR_064053 RCV000011255 CA255283	330	R>Q	Deuteranomaly CBD [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt dbSNP gnomAD
CA415312197 rs1238141906	41	E>K		No	ClinGen TOPMed
CA415312337 rs1189783086	43	P>L		No	ClinGen TOPMed gnomAD
rs1257135801 CA415312400	46	H>Y		No	ClinGen TOPMed gnomAD
CA415312713 rs1284438666	64	V>I		No	ClinGen TOPMed gnomAD
CA415312734 rs1223726997	65	I>T		No	ClinGen TOPMed gnomAD
CA415312756 rs1349253398	68	V>I		No	ClinGen TOPMed
rs1557159071 CA415312857	76	A>V		No	ClinGen gnomAD
CA415313061 rs1557159078	87	P>L		No	ClinGen gnomAD
CA415313111 rs1557159080	90	W>R		No	ClinGen gnomAD
rs1603346662 CA415313189	93	V>G		No	ClinGen Ensembl
rs782122931 CA10558949	96	A>V		No	ClinGen ExAC TOPMed gnomAD
CA10558951 rs781899063	98	A>T		No	ClinGen ExAC TOPMed gnomAD
CA10558954 rs781807082	103	T>A		No	ClinGen ExAC TOPMed gnomAD
rs782614830 CA10558956	104	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1489441935 CA415313502	110	S>G		No	ClinGen TOPMed
CA10558959 rs782658018	111	V>A		No	ClinGen ExAC TOPMed gnomAD
rs200470120 CA10558958	111	V>I		No	ClinGen ExAC TOPMed gnomAD
rs201569525 CA10558960	116	Y>S		No	ClinGen ExAC TOPMed gnomAD
rs782301092 CA10558961	118	Y>*		No	ClinGen ExAC gnomAD
CA415313709 rs1292704067	120	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1557159099 CA415313793	125	M>I		No	ClinGen gnomAD
TCGA novel	131	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	132	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1557159102 CA415313901	133	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	135	L>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA415314228 rs1557159313	153	M>L		No	ClinGen gnomAD
CA10558975 rs782545619	171	V>M		No	ClinGen ExAC gnomAD
rs372044027 CA10558977	174	A>V		No	ClinGen ExAC gnomAD
CA10558978 rs375538821	178	I>V		No	ClinGen ExAC gnomAD
CA10558979 rs949431	180	A>S		No	ClinGen ExAC gnomAD
CA415314520 rs1603346802	180	A>V		No	ClinGen Ensembl
CA415314529 rs1557159320	182	V>M		No	ClinGen gnomAD
rs1414609421 CA415314772	215	G>R		No	ClinGen TOPMed
TCGA novel	249	V>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs782184001 CA10558984	251	K>E		No	ClinGen ExAC gnomAD
CA415315034 rs782329691	251	K>N		No	ClinGen ExAC TOPMed gnomAD
rs781954686 CA10558986	254	K>E		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	255	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA415315072 rs1461553280	256	S>F		No	ClinGen TOPMed
TCGA novel	263	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1557159414 CA415315140	266	V>L		No	ClinGen gnomAD
TCGA novel	267	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs781996947 CA415315149	267	T>K		No	ClinGen ExAC TOPMed gnomAD
rs781996947 CA10558989	267	T>M	Variant assessed as Somatic; 0.0006366 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs782142792 CA10558990	268	R>C		No	ClinGen ExAC TOPMed gnomAD
CA10558991 rs782812659	268	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs374363108 CA10558993	269	M>T		No	ClinGen ESP ExAC gnomAD
rs781790573 CA10558992	269	M>V		No	ClinGen ExAC gnomAD
CA10558994 rs782740781	270	V>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1426635045 CA415315170	271	V>A		No	ClinGen TOPMed
CA10558995 rs781857199	271	V>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	272	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA415315200 rs1247399570	276	A>E		No	ClinGen TOPMed
rs1557159422 CA415315198	276	A>T		No	ClinGen gnomAD
CA10559003 rs781980994	278	C>F		No	ClinGen ExAC
rs782219747 CA415315211	278	C>G		No	ClinGen ExAC TOPMed gnomAD
CA10559002 rs782219747	278	C>R		No	ClinGen ExAC TOPMed gnomAD
CA10559001 rs782219747	278	C>S		No	ClinGen ExAC TOPMed gnomAD
rs782251342 CA10559004	279	F>V		No	ClinGen ExAC gnomAD
TCGA novel	282	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs782403781 CA10559005	284	Y>D		No	ClinGen ExAC gnomAD
TCGA novel	284	Y>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10559009 rs782327292	285	A>D		No	ClinGen ExAC TOPMed gnomAD
CA10559008 rs782051833	285	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs782327292 CA415315261	285	A>V		No	ClinGen ExAC TOPMed gnomAD
rs782096753 CA415315279	288	A>P		No	ClinGen ExAC TOPMed gnomAD
rs782096753 CA10559011	288	A>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	289	C>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs782774154 CA10559012	291	A>T		No	ClinGen ExAC gnomAD
CA415315319 rs1603346882	294	N>D		No	ClinGen Ensembl
rs1557159437 CA415315334	296	G>D		No	ClinGen gnomAD
TCGA novel	297	Y>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10559014 rs201292561	298	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs782706928 CA10559015	298	P>L		No	ClinGen ExAC gnomAD
CA10559017 rs782476525	299	F>Y		No	ClinGen ExAC gnomAD
TCGA novel	300	H>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs781854248 CA415315363	300	H>Q		No	ClinGen ExAC gnomAD
CA415315364 rs1440952023	301	P>T		No	ClinGen TOPMed gnomAD
rs782523552 CA10559020	302	L>*		No	ClinGen ExAC gnomAD
TCGA novel	302	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1557159455 CA415315388	304	A>D		No	ClinGen gnomAD
CA415315385 rs1372540010	304	A>T		No	ClinGen TOPMed
CA415315394 rs1557159461	305	A>G		No	ClinGen gnomAD
rs782651994 CA10559021	305	A>S		No	ClinGen ExAC TOPMed gnomAD
CA415315406 rs1385861011	307	P>L		No	ClinGen TOPMed
CA415315409 rs1557159466	308	A>P		No	ClinGen gnomAD
rs782593302 CA10559024	309	F>Y		No	ClinGen ExAC TOPMed gnomAD
rs1557159473 CA415315428	311	A>T		No	ClinGen gnomAD
rs1557159474 CA415315456	315	T>P		No	ClinGen gnomAD
rs782213939 CA415315462	316	I>L		No	ClinGen ExAC TOPMed gnomAD
CA415315467 rs1557159476	316	I>M		No	ClinGen gnomAD
rs782213939 CA10559025	316	I>V		No	ClinGen ExAC TOPMed gnomAD
rs782007587 CA10559027	320	V>I		No	ClinGen ExAC TOPMed gnomAD
CA415315511 rs1455600649	323	V>L		No	ClinGen TOPMed
TCGA novel	327	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA415315554 rs1557159482	328	Q>H		No	ClinGen gnomAD
rs1557159694 CA415315633	338	G>R		No	ClinGen gnomAD
rs1557159695 CA415315638	338	G>V		No	ClinGen gnomAD
CA415315699 rs1603347046	347	L>F		No	ClinGen Ensembl
rs1557159702 CA415315715	349	S>T		No	ClinGen Ensembl
CA415315719 rs1603347049	350	A>T		No	ClinGen Ensembl
CA337666071 rs202048965	353	T>M		No	ClinGen gnomAD
rs1603347050 CA415315787	360	S>L		No	ClinGen Ensembl
CA415315799 rs1557159708	362	S>L		No	ClinGen Ensembl

No associated diseases with P04001

1 regional properties for P04001

Type	Name	Position	InterPro Accession
domain	Anaphase-promoting complex subunit 4, long domain	225 - 407	IPR024790

Functions

		Description
EC Number
Subcellular Localization	Cell membrane ; Multi-pass membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

4 GO annotations of cellular component

Name	Definition
integral component of plasma membrane	The component of the plasma 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.
photoreceptor disc membrane	Stack of disc membranes located inside a photoreceptor outer segment, and containing densely packed molecules of photoreceptor proteins that traverse the lipid bilayer. Disc membranes arise as evaginations of the ciliary membrane during the development of the outer segment and may or may not remain contiguous with the ciliary membrane.
photoreceptor outer segment	The outer segment of a vertebrate photoreceptor that contains a stack of membrane discs embedded with photoreceptor proteins.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

3 GO annotations of molecular function

Name	Definition
G protein-coupled photoreceptor activity	Combining with incidental electromagnetic radiation, particularly visible light, and transmitting the signal across the membrane by activating an associated G-protein; promotes the exchange of GDP for GTP on the alpha subunit of a heterotrimeric G-protein complex.
identical protein binding	Binding to an identical protein or proteins.
photoreceptor activity	The function of absorbing and responding to incidental electromagnetic radiation, particularly visible light. The response may involve a change in conformation.

5 GO annotations of biological process

Name	Definition
cellular response to light stimulus	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a light stimulus, electromagnetic radiation of wavelengths classified as infrared, visible or ultraviolet light.
G protein-coupled receptor signaling pathway	The series of molecular signals initiated by a ligand binding to its receptor, in which the activated receptor promotes the exchange of GDP for GTP on the alpha-subunit of an associated heterotrimeric G-protein complex. The GTP-bound activated alpha-G-protein then dissociates from the beta- and gamma-subunits to further transmit the signal within the cell. The pathway begins with receptor-ligand interaction, and ends with regulation of a downstream cellular process. The pathway can start from the plasma membrane, Golgi or nuclear membrane.
phototransduction	The sequence of reactions within a cell required to convert absorbed photons into a molecular signal.
positive regulation of cytokinesis	Any process that activates or increases the frequency, rate or extent of the division of the cytoplasm of a cell, and its separation into two daughter cells.
visual perception	The series of events required for an organism to receive a visual stimulus, convert it to a molecular signal, and recognize and characterize the signal. Visual stimuli are detected in the form of photons and are processed to form an image.

4 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
O18913	OPN1LW	Long-wave-sensitive opsin 1	Felis catus (Cat) (Felis silvestris catus)	PR
P04000	OPN1LW	Long-wave-sensitive opsin 1	Homo sapiens (Human)	PR
Q6U736	OPN5	Opsin-5	Homo sapiens (Human)	PR
Q8AYN0	opn1lw2	Red-sensitive opsin-2	Danio rerio (Zebrafish) (Brachydanio rerio)	PR

10	20	30	40	50	60
MAQQWSLQRL	AGRHPQDSYE	DSTQSSIFTY	TNSNSTRGPF	EGPNYHIAPR	WVYHLTSVWM
70	80	90	100	110	120
IFVVIASVFT	NGLVLAATMK	FKKLRHPLNW	ILVNLAVADL	AETVIASTIS	VVNQVYGYFV
130	140	150	160	170	180
LGHPMCVLEG	YTVSLCGITG	LWSLAIISWE	RWMVVCKPFG	NVRFDAKLAI	VGIAFSWIWA
190	200	210	220	230	240
AVWTAPPIFG	WSRYWPHGLK	TSCGPDVFSG	SSYPGVQSYM	IVLMVTCCIT	PLSIIVLCYL
250	260	270	280	290	300
QVWLAIRAVA	KQQKESESTQ	KAEKEVTRMV	VVMVLAFCFC	WGPYAFFACF	AAANPGYPFH
310	320	330	340	350	360
PLMAALPAFF	AKSATIYNPV	IYVFMNRQFR	NCILQLFGKK	VDDGSELSSA	SKTEVSSVSS

VSPA