AiPD: Autoinhibited Protein Database

P19235

Gene name	EPOR
Protein name	Erythropoietin receptor
Names	EPO-R
Species	Homo sapiens (Human)
KEGG Pathway	hsa:2057
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

342-508 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

342-508 (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

19 structures for P19235

Entry ID	Method	Resolution	Chain	Position	Source
1CN4	X-ray	280 A	A/B	25-249	PDB
1EBA	X-ray	270 A	A/B	34-248	PDB
1EBP	X-ray	280 A	A/B	34-244	PDB
1EER	X-ray	190 A	B/C	27-250	PDB
1ERN	X-ray	240 A	A/B	34-246	PDB
2JIX	X-ray	320 A	B/C/E	25-249	PDB
2MV6	NMR	-	A	237-284	PDB
4Y5V	X-ray	260 A	C/F/I	32-249	PDB
4Y5X	X-ray	315 A	C/F/I/L	32-249	PDB
4Y5Y	X-ray	285 A	C/F	32-249	PDB
6E2Q	X-ray	265 A	M/N/O/P	273-338	PDB
6MOE	X-ray	209 A	C/D	32-249	PDB
6MOF	X-ray	289 A	B	32-249	PDB
6MOH	X-ray	320 A	C/D	32-249	PDB
6MOI	X-ray	206 A	B	32-249	PDB
6MOJ	X-ray	243 A	B	32-249	PDB
6MOK	X-ray	510 A	B	32-249	PDB
6MOL	X-ray	316 A	B/C	32-249	PDB
AF-P19235-F1	Predicted				AlphaFoldDB

430 variants for P19235

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs781761386 RCV001123536 CA9210925	5	G>R	Primary familial polycythemia due to EPO receptor mutation [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000294901 rs45516306 RCV000885900 CA9210894	46	G>E	Primary familial polycythemia due to EPO receptor mutation [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA9210880 RCV000334415 rs780617943	72	V>A	Primary familial polycythemia due to EPO receptor mutation [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs146235694 RCV001127635 CA9210805 RCV000885832	99	A>V	Primary familial polycythemia due to EPO receptor mutation [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs373833534 CA9210799 RCV001127634	112	A>V	Primary familial polycythemia due to EPO receptor mutation [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs750556052 RCV001127633	130	A>T	Primary familial polycythemia due to EPO receptor mutation [ClinVar]	Yes	ClinVar dbSNP
RCV001125538 rs775215856 CA404129752	187	G>C	Primary familial polycythemia due to EPO receptor mutation [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs139849355 RCV000321418 CA9210730	190	A>S	Primary familial polycythemia due to EPO receptor mutation [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC dbSNP gnomAD
CA9210692 RCV000283000 rs750657898	199	L>P	Primary familial polycythemia due to EPO receptor mutation [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001125537 rs776887278 RCV002556720 CA9210689	204	E>Q	Primary familial polycythemia due to EPO receptor mutation Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001124528 rs1968317522	301	K>E	Primary familial polycythemia due to EPO receptor mutation [ClinVar]	Yes	ClinVar dbSNP
rs776698147 RCV000270040 CA9210595	327	P>L	Primary familial polycythemia due to EPO receptor mutation [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs754708788 CA9210585 RCV000385042	341	T>M	Primary familial polycythemia due to EPO receptor mutation [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA9210559 VAR_033919 RCV001672550 rs35423344 RCV000275498	380	P>A	Primary familial polycythemia due to EPO receptor mutation [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA9210558 rs199645071 RCV000367754	380	P>L	Primary familial polycythemia due to EPO receptor mutation [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV000018071 CA126703 rs121917831	426	Y>*	Primary familial polycythemia due to EPO receptor mutation [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1555716047 RCV000018067	428	I>missing	Primary familial polycythemia due to EPO receptor mutation [ClinVar]	Yes	ClinVar dbSNP
RCV000018066 rs1555716045	430	D>missing	Primary familial polycythemia due to EPO receptor mutation [ClinVar]	Yes	ClinVar dbSNP
rs1555716041 RCV000018070	434	Q>missing	Primary familial polycythemia due to EPO receptor mutation [ClinVar]	Yes	ClinVar dbSNP
COSM1390334 RCV000258848 rs62638744 CA9210532 RCV002059064	437	R>H	large_intestine Primary familial polycythemia due to EPO receptor mutation [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs121918116 CA126700 RCV000018065	439	W>*	Primary familial polycythemia due to EPO receptor mutation [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000258849 CA10602669 RCV001293750 rs121917830	439	W>*	Primary familial polycythemia due to EPO receptor mutation Acute megakaryoblastic leukemia without down syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA9210518 rs146937816 RCV000354688	476	A>V	Primary familial polycythemia due to EPO receptor mutation [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs775164142 RCV000403476 RCV001356496 RCV002521180 CA9210513	482	D>N	Primary familial polycythemia due to EPO receptor mutation Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001123433 CA9210509 rs370841243	486	S>P	Primary familial polycythemia due to EPO receptor mutation [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs62638745 CA126702 RCV000893045 RCV000018068	487	N>S	Primary familial polycythemia due to EPO receptor mutation [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000953082 CA9210508 VAR_027373 RCV001258311 RCV000258855 rs142094773	488	P>S	Intellectual disability-hypotonic facies syndrome, X-linked, 1 Primary familial polycythemia due to EPO receptor mutation [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1278551815 CA404133910	2	D>G		No	ClinGen TOPMed
rs993014039 CA305346024	2	D>N		No	ClinGen TOPMed gnomAD
CA404133884 rs1239516139	4	L>F		No	ClinGen gnomAD
CA404133886 rs1239516139	4	L>V		No	ClinGen gnomAD
rs928824171 CA305346020	5	G>E		No	ClinGen TOPMed
TCGA novel	9	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1235779679 CA404133826	9	W>L		No	ClinGen TOPMed
rs1462247981 CA404133818 COSM1711839	10	P>L	skin [Cosmic]	No	ClinGen cosmic curated gnomAD
rs747347964 CA9210923	10	P>T		No	ClinGen ExAC gnomAD
CA9210922 rs780594150	11	Q>K		No	ClinGen ExAC TOPMed gnomAD
CA9210921 rs565787784	11	Q>P		No	ClinGen 1000Genomes ExAC gnomAD
rs1356101215 CA404133803	13	G>S		No	ClinGen TOPMed gnomAD
CA404133792 rs1275778167	15	L>V		No	ClinGen TOPMed
rs753446089 CA9210920	19	L>F		No	ClinGen ExAC gnomAD
rs763588558 CA9210919	20	A>S		No	ClinGen ExAC gnomAD
TCGA novel	22	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1359563617 CA404133746	23	A>S		No	ClinGen gnomAD
rs1181576698 CA404133741	23	A>V		No	ClinGen TOPMed
CA404133737 rs1417578556	24	W>*		No	ClinGen gnomAD
CA404133739 rs1231342318	24	W>R		No	ClinGen TOPMed
CA404133726 rs1381812126	25	A>V		No	ClinGen gnomAD
rs752306228 CA9210917	26	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1170061203 CA404133723	26	P>S		No	ClinGen Ensembl
TCGA novel	27	P>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1410978489 CA404133718	27	P>S		No	ClinGen gnomAD
CA404133712 rs1184183632	28	P>A		No	ClinGen gnomAD
rs1483847243 CA404133708	29	N>H		No	ClinGen gnomAD
CA404133702 rs1262981789	29	N>K		No	ClinGen gnomAD
CA404133370 rs1394548329	33	P>L		No	ClinGen TOPMed
CA404133374 rs1214941430	33	P>S		No	ClinGen gnomAD
CA404133367 rs1568330552	34	K>*		No	ClinGen Ensembl
rs1287019143 CA404133364	34	K>M		No	ClinGen TOPMed gnomAD
rs1287019143 CA404133365	34	K>R		No	ClinGen TOPMed gnomAD
CA404133340 rs1170712373	37	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs780705663 CA404133207	40	A>D		No	ClinGen ExAC TOPMed gnomAD
rs780705663 CA9210898	40	A>G		No	ClinGen ExAC TOPMed gnomAD
rs367994954 CA9210900	40	A>T		No	ClinGen ESP ExAC gnomAD
rs780705663 CA9210899	40	A>V		No	ClinGen ExAC TOPMed gnomAD
CA404133195 rs1401699944	41	L>F		No	ClinGen gnomAD
rs1599420589 CA404133174	43	A>E		No	ClinGen Ensembl
rs1172434997 CA404133179	43	A>T		No	ClinGen gnomAD
rs1379718964 CA404133154	44	A>D		No	ClinGen gnomAD
rs751506215 CA305345672	45	R>G		No	ClinGen ExAC TOPMed gnomAD
rs766374051 CA305345663	45	R>P		No	ClinGen ExAC TOPMed gnomAD
CA9210895 rs766374051	45	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA9210896 rs751506215	45	R>W		No	ClinGen ExAC TOPMed gnomAD
CA9210892 rs765348514	47	P>L		No	ClinGen ExAC gnomAD
CA404133082 rs1455674877	48	E>K		No	ClinGen TOPMed
CA9210891 rs762127631	50	L>P		No	ClinGen ExAC gnomAD
CA9210890 rs776800957	52	C>G		No	ClinGen ExAC gnomAD
CA305345650 rs764303927	52	C>S		No	ClinGen Ensembl
rs768868654 CA9210889	55	E>V		No	ClinGen ExAC gnomAD
CA404132863 rs1599420528	59	D>G		No	ClinGen Ensembl
rs1331960558 CA404132876	59	D>N		No	ClinGen TOPMed
rs1241687607 CA404132808	61	V>A		No	ClinGen gnomAD
rs1335771561 CA404132799	62	C>R		No	ClinGen gnomAD
rs779186064 CA305345640	64	W>R		No	ClinGen Ensembl
rs762929792 CA305345636	65	E>A		No	ClinGen Ensembl
TCGA novel	65	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA404132708 rs1308143422	69	S>N		No	ClinGen TOPMed
rs772690195 CA404132704	69	S>R		No	ClinGen ExAC gnomAD
rs746192579 CA9210884	70	A>P		No	ClinGen ExAC TOPMed gnomAD
CA404132694 rs1568330247	71	G>A		No	ClinGen Ensembl
CA9210881 rs747816108	71	G>R		No	ClinGen ExAC gnomAD
CA404132693 rs1440415679	72	V>M		No	ClinGen gnomAD
rs751128212 CA9210878	73	G>D		No	ClinGen ExAC gnomAD
rs374237735 CA9210879	73	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs933705861 CA305345622	76	N>T		No	ClinGen TOPMed gnomAD
rs140267472 CA9210877 RCV000917192	78	S>T		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1198219426 CA404132634	80	S>F		No	ClinGen TOPMed
CA9210876 RCV000497391 rs370865377	82	Q>*		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1218322679 CA404132596	82	Q>R		No	ClinGen gnomAD
CA404132585 rs1219525230	83	L>I		No	ClinGen TOPMed gnomAD
rs762067686 CA9210874	84	E>K		No	ClinGen ExAC gnomAD
rs762067686 CA9210873	84	E>Q		No	ClinGen ExAC gnomAD
rs374025764 CA404132370	88	W>G		No	ClinGen ESP ExAC gnomAD
rs374025764 CA9210813	88	W>R		No	ClinGen ESP ExAC gnomAD
CA404132356 rs781454885	89	K>N		No	ClinGen ExAC gnomAD
TCGA novel	92	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9210810 rs751621912	93	L>P		No	ClinGen ExAC TOPMed gnomAD
rs780132674 CA404132325	94	H>Q		No	ClinGen ExAC gnomAD
rs750931574 CA9210807	97	P>A		No	ClinGen ExAC TOPMed gnomAD
rs750931574 CA9210808	97	P>S		No	ClinGen ExAC TOPMed gnomAD
CA9210804 rs754199429	100	R>C		No	ClinGen ExAC gnomAD
rs1327312058 CA404131792	100	R>P		No	ClinGen gnomAD
rs1599419560 CA404131758	103	V>G		No	ClinGen Ensembl
rs1393656843 CA404131746	104	R>H		No	ClinGen TOPMed
rs1568329833 CA404131752	104	R>S		No	ClinGen Ensembl
rs999610089 CA305344933	106	W>C		No	ClinGen TOPMed
CA404131684 rs1406631752	106	W>R		No	ClinGen TOPMed
rs1329852497 CA404131654	107	C>R		No	ClinGen gnomAD
CA404131645 rs1331043902	107	C>Y		No	ClinGen TOPMed
rs373833534 CA404131517	112	A>D		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	112	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1599419532 CA404131527	112	A>T		No	ClinGen Ensembl
CA305344918 rs376239211	113	D>E		No	ClinGen Ensembl
TCGA novel	114	T>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA404131430 rs1431645802	116	S>N		No	ClinGen gnomAD
CA404131420 rs1397060295	116	S>R		No	ClinGen gnomAD
CA404131410 rs1599419508	117	F>L		No	ClinGen Ensembl
CA9210797 rs371029194	119	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA404131372 rs1457341522	119	P>S		No	ClinGen TOPMed gnomAD
CA404131373 rs1457341522	119	P>T		No	ClinGen TOPMed gnomAD
rs1568329800 CA404131354	120	L>R		No	ClinGen Ensembl
rs1251667015 CA404131280	123	R>H		No	ClinGen gnomAD
rs1254633566 CA404131257	124	V>F		No	ClinGen TOPMed gnomAD
rs377550572 CA9210795	125	T>A		No	ClinGen ESP ExAC gnomAD
CA9210793 rs747212364	127	A>D		No	ClinGen ExAC gnomAD
rs747212364 CA404131182	127	A>V		No	ClinGen ExAC gnomAD
CA404131159 rs780044930	129	G>C		No	ClinGen ExAC gnomAD
CA9210792 rs780044930	129	G>S		No	ClinGen ExAC gnomAD
rs750556052 CA9210790	130	A>P		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	132	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs376532680 CA305344866	132	R>Q		No	ClinGen ESP TOPMed gnomAD
TCGA novel	135	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1163332105 CA404130888	140	N>S		No	ClinGen TOPMed
CA404130865 rs1389469888	141	E>*		No	ClinGen TOPMed
rs754190606 CA9210786	142	V>A		No	ClinGen ExAC gnomAD
CA9210785 rs771666923	143	V>M		No	ClinGen ExAC gnomAD
rs1160930591 CA404130622	147	A>G		No	ClinGen TOPMed
CA9210762 rs1555716537	147	A>S		No	ClinGen Ensembl
CA404130632 rs1555716537	147	A>T		No	ClinGen Ensembl
rs1206410452 CA404130589	149	V>M		No	ClinGen gnomAD
TCGA novel	149	V>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA305344714 rs922835545	152	V>L		No	ClinGen gnomAD
CA404130543 rs922835545	152	V>M		No	ClinGen gnomAD
CA9210760 rs758156767	153	A>V		No	ClinGen ExAC gnomAD
rs749908751 CA404130485	154	R>L		No	ClinGen ExAC TOPMed gnomAD
CA9210759 rs749908751	154	R>P		No	ClinGen ExAC TOPMed gnomAD
CA9210757 rs761747539	157	D>N		No	ClinGen ExAC gnomAD
CA9210754 rs775300179	158	E>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs764148310 CA9210755	158	E>K		No	ClinGen ExAC TOPMed gnomAD
CA404130352 rs1242430861	160	G>S		No	ClinGen TOPMed
RCV000483508 rs1555716523	161	H>missing		No	ClinVar dbSNP
TCGA novel	161	H>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9210752 rs772238101	165	R>L		No	ClinGen ExAC gnomAD
CA9210750 rs774431553	167	L>F		No	ClinGen ExAC gnomAD
CA9210749 rs149831382	168	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1447118742 CA404130053	172	T>I		No	ClinGen gnomAD
CA404130035 rs1266048305	173	P>L		No	ClinGen gnomAD
rs1337598067 CA404130023	174	M>T		No	ClinGen TOPMed gnomAD
rs778121683 CA9210746	174	M>V		No	ClinGen ExAC gnomAD
rs1254624883 CA404129989	175	T>M		No	ClinGen gnomAD
CA9210745 rs756727018	176	S>F		No	ClinGen ExAC gnomAD
CA404129969 rs1200643740	177	H>N		No	ClinGen TOPMed
CA9210744 rs748484141	177	H>Q		No	ClinGen ExAC gnomAD
rs781710022 CA9210743	178	I>N		No	ClinGen ExAC
rs1228428456 CA404129924	179	R>C		No	ClinGen gnomAD
rs758069237 CA9210742	179	R>H		No	ClinGen ExAC gnomAD
CA404129909 rs1323990814	180	Y>H		No	ClinGen gnomAD
rs765009836 CA9210740	181	E>K		No	ClinGen ExAC gnomAD
rs1326443454 CA404129857	182	V>L		No	ClinGen gnomAD
rs1417089817 CA404129818	183	D>E		No	ClinGen TOPMed gnomAD
rs1409208771 CA404129844	183	D>N		No	ClinGen gnomAD
CA404129806 rs1488802289	184	V>F		No	ClinGen gnomAD
CA404129774 rs1169353542	185	S>L		No	ClinGen gnomAD
rs1376657454 CA404129768	186	A>T		No	ClinGen gnomAD
rs775215856 CA9210735	187	G>R		No	ClinGen ExAC TOPMed gnomAD
rs775215856 CA404129755	187	G>S		No	ClinGen ExAC TOPMed gnomAD
CA9210733 rs759686842	188	N>K		No	ClinGen ExAC TOPMed gnomAD
CA404129735 rs1350969188	188	N>S		No	ClinGen gnomAD
CA9210732 rs774430628	189	G>C		No	ClinGen ExAC gnomAD
CA9210731 rs771235530	189	G>D		No	ClinGen ExAC gnomAD
CA404129723 rs774430628	189	G>S		No	ClinGen ExAC gnomAD
CA404129709 rs139849355	190	A>T		No	ClinGen 1000Genomes ESP ExAC gnomAD
rs1301477697 CA404129688	191	G>R		No	ClinGen TOPMed gnomAD
rs773372608 CA404129660 CA9210729	192	S>R		No	ClinGen ExAC gnomAD
rs1172166436 CA404129671	192	S>T		No	ClinGen TOPMed
CA9210728 rs770377268	193	V>A		No	ClinGen ExAC gnomAD
rs1304121438 CA404129647	193	V>L		No	ClinGen gnomAD
CA404129628 rs1330650813	194	Q>*		No	ClinGen TOPMed gnomAD
TCGA novel	194	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1277362908 CA404129414 COSM1205543	197	E>D	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs1355363517 CA404129376	200	E>K		No	ClinGen gnomAD
rs1327252032 CA404129360	201	G>S		No	ClinGen TOPMed
rs1426397657 CA404129350	201	G>V		No	ClinGen Ensembl
CA9210691 rs765615096	202	R>P		No	ClinGen ExAC gnomAD
rs1248029611 CA404129303	205	C>R		No	ClinGen TOPMed
CA305344199 rs533014098	207	L>Q		No	ClinGen 1000Genomes TOPMed gnomAD
rs1175295465 CA404129237	209	N>K		No	ClinGen gnomAD
rs936958103 CA305344198	211	R>Q		No	ClinGen TOPMed
rs185740642 CA9210688	212	G>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1209666092 CA404129198	213	R>G		No	ClinGen gnomAD
rs1281821926 CA404129179	214	T>M		No	ClinGen gnomAD
CA404129169 rs1233264153	215	R>C		No	ClinGen gnomAD
rs761263193 CA9210687	215	R>H		No	ClinGen ExAC TOPMed gnomAD
CA404129158 rs1393553623	216	Y>D		No	ClinGen gnomAD
rs1599418562 CA404129148	217	T>P		No	ClinGen Ensembl
rs1312573655 CA404129134	219	A>T		No	ClinGen gnomAD
rs1473509867 CA404129129	219	A>V		No	ClinGen TOPMed
CA9210684 rs772835927	220	V>I		No	ClinGen ExAC gnomAD
CA9210683 rs772835927	220	V>L		No	ClinGen ExAC gnomAD
rs1453095403 CA404129123	221	R>C		No	ClinGen TOPMed gnomAD
rs769484228 CA9210682	221	R>H		No	ClinGen ExAC gnomAD
rs991881188 CA305344164	223	R>H		No	ClinGen TOPMed gnomAD
CA404129109 rs991881188	223	R>P		No	ClinGen TOPMed gnomAD
CA305344161 rs868670863	224	M>I		No	ClinGen Ensembl
CA404129107 rs375609414	224	M>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA9210680 rs375609414	224	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs754814646 CA9210679	226	E>G		No	ClinGen ExAC gnomAD
TCGA novel	226	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1484492036 CA404129084	227	P>R		No	ClinGen gnomAD
CA9210678 rs561636122	230	G>D		No	ClinGen 1000Genomes ExAC gnomAD
CA404129061 rs1349306962	231	G>S		No	ClinGen gnomAD
CA404129054 rs1259529467	232	F>L		No	ClinGen gnomAD
CA9210676 rs773564773 RCV000895947	233	W>G		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA9210675 rs750295289	234	S>N		No	ClinGen ExAC gnomAD
CA404129032 rs1413251317	235	A>T		No	ClinGen TOPMed gnomAD
CA404129020 rs1313662293	236	W>*		No	ClinGen gnomAD
CA404129003 rs765522005	239	P>A		No	ClinGen ExAC TOPMed gnomAD
rs542643797 CA9210673	239	P>L		No	ClinGen 1000Genomes ExAC gnomAD
rs542643797 CA9210672	239	P>R		No	ClinGen 1000Genomes ExAC gnomAD
CA9210674 rs765522005	239	P>T		No	ClinGen ExAC TOPMed gnomAD
CA404129000 rs1156811122	240	V>M		No	ClinGen gnomAD
CA404128989 rs1412544423	241	S>L		No	ClinGen gnomAD
rs1455268226 CA404128992	241	S>P		No	ClinGen gnomAD
rs764244373 CA9210671	244	T>M		No	ClinGen ExAC gnomAD
rs761020369 CA9210670	245	P>L		No	ClinGen ExAC TOPMed gnomAD
CA404128963 rs1259041439	246	S>N		No	ClinGen gnomAD
CA305344140 rs200636512 CA404128962	246	S>R		No	ClinGen 1000Genomes gnomAD
rs1438611674 CA404128941	248	L>M		No	ClinGen gnomAD
rs768211482 CA9210660	248	L>R		No	ClinGen ExAC TOPMed gnomAD
rs1323974184 CA404128937	249	D>N		No	ClinGen gnomAD
CA404128932 rs1568329125	249	D>V		No	ClinGen Ensembl
rs1409115739 CA404128925	250	P>R		No	ClinGen gnomAD
TCGA novel	254	T>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA305344100 rs772459030	255	L>V		No	ClinGen Ensembl
CA404128890 rs1458175871	256	S>C		No	ClinGen gnomAD
rs1459614745 CA404128893	256	S>P		No	ClinGen TOPMed
CA404128886 rs1393950579	257	L>F		No	ClinGen TOPMed gnomAD
CA404128883 rs1192368347	257	L>H		No	ClinGen gnomAD
CA404128887 rs1393950579	257	L>V		No	ClinGen TOPMed gnomAD
rs1436380909 CA404128856	260	V>A		No	ClinGen gnomAD
CA9210658 rs373709817	260	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA9210657 rs200458897	264	V>G		No	ClinGen ExAC TOPMed gnomAD
CA305344084 rs150695961	264	V>L		No	ClinGen ESP TOPMed gnomAD
CA404128807 rs150695961	264	V>M		No	ClinGen ESP TOPMed gnomAD
rs1236502126 CA404128778	266	L>Q		No	ClinGen TOPMed gnomAD
rs778870915 CA9210655	269	L>F		No	ClinGen ExAC gnomAD
CA404128713 rs1232823164	270	A>E		No	ClinGen TOPMed gnomAD
rs754113972 CA9210653	273	S>P		No	ClinGen ExAC
rs777923129 CA9210652	274	H>P		No	ClinGen ExAC gnomAD
CA404128630 rs1390814709	276	R>W		No	ClinGen TOPMed
CA305342948 rs930684052	277	A>T		No	ClinGen Ensembl
rs749153526 CA9210634	278	L>V		No	ClinGen ExAC gnomAD
rs1350720670 CA404127848	280	Q>R		No	ClinGen TOPMed
rs781223562	281	K>missing	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1285879870 CA404127791	283	W>*		No	ClinGen TOPMed
CA9210631 rs756329208	285	G>V		No	ClinGen ExAC gnomAD
CA9210629 rs139756642	287	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	287	P>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9210627 rs752058983	290	E>D		No	ClinGen ExAC gnomAD
CA404127641 rs1291097518	290	E>Q		No	ClinGen gnomAD
CA9210625 rs200057444	292	E>K		No	ClinGen ExAC gnomAD
rs750797567 CA9210624	295	G>D		No	ClinGen ExAC gnomAD
CA404127338 rs1321784132	302	G>S		No	ClinGen gnomAD
CA305342868 rs60825798	305	Q>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs60825798 CA9210622	305	Q>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs775003412 CA9210621	305	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs192923196 CA9210606	306	L>V		No	ClinGen 1000Genomes ExAC gnomAD
CA404126603 rs1265137403	309	Y>H		No	ClinGen gnomAD
rs752284960 CA9210604	311	N>S		No	ClinGen ExAC gnomAD
CA404126439 rs1250455681	317	W>G		No	ClinGen gnomAD
CA404126444 rs1250455681	317	W>R		No	ClinGen gnomAD
CA9210602 rs759093549	318	S>N		No	ClinGen ExAC TOPMed gnomAD
CA404126417 CA404126419 rs1343746653	318	S>R		No	ClinGen TOPMed gnomAD
CA305342805 rs925720235	321	T>I		No	ClinGen TOPMed gnomAD
rs766378891 CA9210600	322	P>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	323	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs762813124 CA9210599	323	F>V		No	ClinGen ExAC gnomAD
CA9210598 rs772993810	324	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs768908131 CA9210594	328	P>S		No	ClinGen ExAC gnomAD
CA9210593 rs201571204	329	A>P		No	ClinGen 1000Genomes ExAC gnomAD
rs1568328293 CA404126223	333	V>F		No	ClinGen Ensembl
rs779538586 CA9210589	336	E>D		No	ClinGen ExAC gnomAD
CA9210590 rs758272993	336	E>K		No	ClinGen ExAC TOPMed gnomAD
CA305342755 rs992467516	337	R>C		No	ClinGen TOPMed
CA9210588 rs576644426 COSM1303987	337	R>H	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1179674296 CA404126147	338	C>R		No	ClinGen gnomAD
rs1292402853 CA404126118	339	W>*		No	ClinGen TOPMed
CA404126101 rs1483832991	340	G>V		No	ClinGen gnomAD
CA305342732 rs368125452	342	M>V		No	ClinGen Ensembl
CA305342724 rs141940285	347	P>L		No	ClinGen ESP TOPMed gnomAD
CA9210583 rs557770397	347	P>S		No	ClinGen ExAC gnomAD
rs557770397 CA305342730	347	P>T		No	ClinGen ExAC gnomAD
TCGA novel	348	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA404126007 rs1568328234	348	G>W		No	ClinGen Ensembl
CA9210580 rs773011773	349	T>I		No	ClinGen ExAC gnomAD
CA9210579 rs765269651	350	D>H		No	ClinGen ExAC gnomAD
rs368363386 CA9210578	351	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1312478601 CA404125949	351	D>V		No	ClinGen gnomAD
rs1413059866 CA404125932	352	E>D		No	ClinGen TOPMed gnomAD
CA9210577 rs776446483	354	P>L		No	ClinGen ExAC TOPMed gnomAD
rs994885024 CA305342678	356	L>V		No	ClinGen TOPMed
CA404125865 rs1466326523	357	E>*		No	ClinGen TOPMed
rs183679845 CA9210574	358	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs569851700 CA9210573	361	S>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA404125819 rs1473420374	361	S>R		No	ClinGen gnomAD
rs1413098896 CA404125796	362	E>K		No	ClinGen gnomAD
CA9210570 rs771507239	366	D>Y		No	ClinGen ExAC gnomAD
CA9210568 rs749575993	367	T>A		No	ClinGen ExAC
rs940691487 CA305342659	368	Y>C		No	ClinGen TOPMed
rs1485846242 CA404125712	370	V>L		No	ClinGen gnomAD
rs1184535377 CA404125697	372	D>G		No	ClinGen TOPMed
rs754612403 CA9210565	373	K>E		No	ClinGen ExAC gnomAD
rs192441411 CA9210564	376	L>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs192441411 CA9210563	376	L>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9210560 rs765048222	378	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA9210561 rs750630121	378	R>W		No	ClinGen ExAC TOPMed gnomAD
rs35423344 CA305342642	380	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs760526845 CA404125644	381	P>L		No	ClinGen ExAC TOPMed gnomAD
rs760526845 CA9210556	381	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1433592419 CA404125645	381	P>S		No	ClinGen TOPMed
CA9210555 rs775673989	382	S>G		No	ClinGen ExAC gnomAD
CA404125626 rs1380390760	384	D>Y		No	ClinGen TOPMed
CA9210554 rs772383554	385	L>I		No	ClinGen ExAC TOPMed gnomAD
CA404125599 rs1163832180	388	P>L		No	ClinGen gnomAD
rs1471612554 CA404125596	389	G>S		No	ClinGen gnomAD
CA404125577 rs1369800666	391	S>R		No	ClinGen gnomAD
CA404125565 rs1187668396	393	D>A		No	ClinGen gnomAD
CA404125552 rs1331243823	395	V>A		No	ClinGen TOPMed
rs759502326 CA9210552	395	V>L		No	ClinGen ExAC TOPMed gnomAD
CA404125550 rs1246773722	396	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs757686942 CA9210551	400	G>S		No	ClinGen ExAC TOPMed gnomAD
CA404125515 rs1237966275	400	G>V		No	ClinGen gnomAD
rs1267654800 CA404125509	401	S>L		No	ClinGen TOPMed
rs1465679458 CA404125502	402	E>D		No	ClinGen gnomAD
CA305342618 rs974933030	404	S>C		No	ClinGen TOPMed gnomAD
rs771294122 CA9210550	407	S>L		No	ClinGen ExAC gnomAD
CA9210549 rs370515840	411	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA305342613 rs281860298	412	S>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1599416739 CA920058785	412	S>G		No	ClinGen Ensembl
rs281860298 CA9210547	412	S>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1437171500 CA404125391	413	K>N		No	ClinGen gnomAD
CA404125378 rs1159235400	414	P>L		No	ClinGen TOPMed
rs1365763992 CA404125343	417	E>K		No	ClinGen TOPMed gnomAD
TCGA novel	418	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs749855912 CA9210543	419	A>D		No	ClinGen ExAC gnomAD
CA9210544 rs758104665	419	A>T		No	ClinGen ExAC gnomAD
rs778502413 CA9210542	421	A>P		No	ClinGen ExAC gnomAD
CA9210541 rs757072422	425	E>K		No	ClinGen ExAC gnomAD
TCGA novel	426	Y>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	427	T>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA305342599 rs914327668	428	I>V		No	ClinGen TOPMed
rs760437132 CA9210538	429	L>R		No	ClinGen ExAC gnomAD
rs752527298 CA9210537	430	D>V		No	ClinGen ExAC gnomAD
rs767592247 CA9210536	431	P>T		No	ClinGen ExAC gnomAD
TCGA novel	432	S>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs759826375 CA9210535	432	S>N		No	ClinGen ExAC gnomAD
CA404125103 rs1453660152	432	S>R		No	ClinGen gnomAD
TCGA novel	433	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs138559043 CA9210534	435	L>V		No	ClinGen ESP ExAC gnomAD
rs771039244 CA9210533	437	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA404125025 rs771039244	437	R>S		No	ClinGen ExAC gnomAD
rs121917830 CA305342574	439	W>L		No	ClinGen Ensembl
rs202047325 CA305342568	446	P>L		No	ClinGen TOPMed gnomAD
rs1230051734 CA404124783	450	P>R		No	ClinGen gnomAD
rs1312770718 CA404124770	451	H>P		No	ClinGen TOPMed
CA404124744 rs1209147888	453	K>R		No	ClinGen TOPMed
CA404124746 rs1209147888	453	K>T		No	ClinGen TOPMed
rs748486297 CA9210529	454	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs1368251390 CA404124707	455	L>P		No	ClinGen gnomAD
rs1250363064 CA404124656	458	V>M		No	ClinGen TOPMed
CA9210526 rs745543338	459	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1193366124 CA404124597	461	D>G		No	ClinGen TOPMed
rs370541202 CA9210525	464	I>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA305342537 rs376951711	465	S>A		No	ClinGen ESP TOPMed gnomAD
CA404124509 rs1378561162	466	T>N		No	ClinGen gnomAD
rs1026783071 CA305342518	467	D>A		No	ClinGen gnomAD
TCGA novel	468	Y>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA404124404 rs1206022201	471	G>R		No	ClinGen gnomAD
CA404124388 rs1299120493	472	D>N		No	ClinGen TOPMed gnomAD
CA404124356 rs1277913272	473	S>F		No	ClinGen gnomAD
CA305342503 rs1023253566	474	Q>*		No	ClinGen TOPMed
rs767356681 CA9210519	475	G>A		No	ClinGen ExAC gnomAD
rs767356681 CA9210520 COSM1303986	475	G>E	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs756074310 CA9210521	475	G>R		No	ClinGen ExAC gnomAD
CA9210516 rs766559005	477	Q>*		No	ClinGen ExAC gnomAD
CA404124306 rs766559005	477	Q>E		No	ClinGen ExAC gnomAD
rs1409942355 CA404124256	479	G>D		No	ClinGen gnomAD
CA9210514 rs199509853	480	L>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA404124225 rs1416667816	481	S>Y		No	ClinGen TOPMed gnomAD
CA404124154 rs1471802731	484	P>H		No	ClinGen TOPMed gnomAD
CA9210511 rs762427207	485	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs62638745 CA404124098	487	N>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs770608744 CA305342382	489	Y>*		No	ClinGen ExAC TOPMed gnomAD
CA9210505 rs377657947	490	E>D		No	ClinGen ESP ExAC gnomAD
CA404123981 rs748120978	494	I>M		No	ClinGen ExAC gnomAD
rs1599416505 CA404123985	494	I>T		No	ClinGen Ensembl
rs751352150 CA9210501	497	A>P		No	ClinGen ExAC TOPMed gnomAD
CA404123939 rs751352150	497	A>S		No	ClinGen ExAC TOPMed gnomAD
CA9210500 rs751352150	497	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA305342325 rs375280404	497	A>V		No	ClinGen Ensembl
CA404123928 rs1168420741	498	E>K		No	ClinGen TOPMed
rs1281927241 CA404123904	499	P>T		No	ClinGen TOPMed gnomAD
rs1039655747 CA305342317	501	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs369228469 CA9210499	501	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs200372382 CA9210498	502	P>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9210497 rs200372382	502	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs752862659	503	S>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1404996393 CA404123805	504	Y>C		No	ClinGen gnomAD
rs762055342 CA9210493	509	S>E		No	ClinGen ExAC TOPMed gnomAD
rs1243714142 CA404123707	509	S>S		No	ClinGen gnomAD

1 associated diseases with P19235

[MIM: 133100]: Erythrocytosis, familial, 1 (ECYT1)

An autosomal dominant disorder characterized by elevated hemoglobin and hematocrit, hypersensitivity of erythroid progenitors to erythropoietin, erythropoietin low serum levels, and no increase in platelets nor leukocytes. It has a relatively benign course and does not progress to leukemia. {ECO:0000269|PubMed:8506290, ECO:0000269|PubMed:8608241}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

An autosomal dominant disorder characterized by elevated hemoglobin and hematocrit, hypersensitivity of erythroid progenitors to erythropoietin, erythropoietin low serum levels, and no increase in platelets nor leukocytes. It has a relatively benign course and does not progress to leukemia. {ECO:0000269|PubMed:8506290, ECO:0000269|PubMed:8608241}. Note=The disease is caused by variants affecting the gene represented in this entry.

3 regional properties for P19235

Type	Name	Position	InterPro Accession
conserved_site	Long hematopoietin receptor, single chain, conserved site	162 - 242	IPR003528
domain	Fibronectin type III	145 - 247	IPR003961
domain	Growth hormone/erythropoietin receptor, ligand binding	37 - 140	IPR015152

Functions

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

5 GO annotations of cellular component

Name	Definition
external side of plasma membrane	The leaflet of the plasma membrane that faces away from the cytoplasm and any proteins embedded or anchored in it or attached to its surface.
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 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.
nuclear speck	A discrete extra-nucleolar subnuclear domain, 20-50 in number, in which splicing factors are seen to be localized by immunofluorescence microscopy.
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
cytokine receptor activity	Combining with a cytokine and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity.
erythropoietin receptor activity	Combining with erythropoietin and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity.
identical protein binding	Binding to an identical protein or proteins.

7 GO annotations of biological process

Name	Definition
brain development	The process whose specific outcome is the progression of the brain over time, from its formation to the mature structure. Brain development begins with patterning events in the neural tube and ends with the mature structure that is the center of thought and emotion. The brain is responsible for the coordination and control of bodily activities and the interpretation of information from the senses (sight, hearing, smell, etc.).
cytokine-mediated signaling pathway	The series of molecular signals initiated by the binding of a cytokine to a receptor on the surface of a cell, and ending with the regulation of a downstream cellular process, e.g. transcription.
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.
heart development	The process whose specific outcome is the progression of the heart over time, from its formation to the mature structure. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood.
hemopoiesis	The process whose specific outcome is the progression of the myeloid and lymphoid derived organ/tissue systems of the blood and other parts of the body over time, from formation to the mature structure. The site of hemopoiesis is variable during development, but occurs primarily in bone marrow or kidney in many adult vertebrates.
positive regulation of cell population proliferation	Any process that activates or increases the rate or extent of cell proliferation.
signal transduction	The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell.

3 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q08351	Mpl	Thrombopoietin receptor	Mus musculus (Mouse)	PR
P14753	Epor	Erythropoietin receptor	Mus musculus (Mouse)	PR
Q9MYZ9	EPOR	Erythropoietin receptor	Sus scrofa (Pig)	PR

10	20	30	40	50	60
MDHLGASLWP	QVGSLCLLLA	GAAWAPPPNL	PDPKFESKAA	LLAARGPEEL	LCFTERLEDL
70	80	90	100	110	120
VCFWEEAASA	GVGPGNYSFS	YQLEDEPWKL	CRLHQAPTAR	GAVRFWCSLP	TADTSSFVPL
130	140	150	160	170	180
ELRVTAASGA	PRYHRVIHIN	EVVLLDAPVG	LVARLADESG	HVVLRWLPPP	ETPMTSHIRY
190	200	210	220	230	240
EVDVSAGNGA	GSVQRVEILE	GRTECVLSNL	RGRTRYTFAV	RARMAEPSFG	GFWSAWSEPV
250	260	270	280	290	300
SLLTPSDLDP	LILTLSLILV	VILVLLTVLA	LLSHRRALKQ	KIWPGIPSPE	SEFEGLFTTH
310	320	330	340	350	360
KGNFQLWLYQ	NDGCLWWSPC	TPFTEDPPAS	LEVLSERCWG	TMQAVEPGTD	DEGPLLEPVG
370	380	390	400	410	420
SEHAQDTYLV	LDKWLLPRNP	PSEDLPGPGG	SVDIVAMDEG	SEASSCSSAL	ASKPSPEGAS
430	440	450	460	470	480
AASFEYTILD	PSSQLLRPWT	LCPELPPTPP	HLKYLYLVVS	DSGISTDYSS	GDSQGAQGGL
490	500
SDGPYSNPYE	NSLIPAAEPL	PPSYVACS