AiPD: Autoinhibited Protein Database

O14745

Gene name	SLC9A3R1
Protein name	Na(+)/H(+) exchange regulatory cofactor NHE-RF1
Names	NHERF-1, Ezrin-radixin-moesin-binding phosphoprotein 50, EBP50, Regulatory cofactor of Na(+)/H(+) exchanger, Sodium-hydrogen exchanger regulatory factor 1, Solute carrier family 9 isoform A3 regulatory factor 1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:9368
EC number
Protein Class	PDZ DOMAIN CONTAINING PROTEIN (PTHR14191)

Descriptions

The mammalian Na+/H+ exchange regulatory factor 1 (NHERF1) is a multidomain scaffolding protein essential for regulating the intracellular trafficking and macromolecular assembly of transmembrane ion channels and receptors. NHERF1 is held in an autoinhibited state through intramolecular interactions between PDZ2 and the CT domain that also includes a C-terminal PDZ-binding motif (-SNL). A central feature of NHERF1 is its binding to ezrin and to other ezrin-radixin-moesin (ERM) proteins, forming a communication bridge between plasma membrane proteins and the actin cytoskeleton ezrin modulates the PDZ domains of NHERF1 to assemble multiprotein complexes in a cooperative fashion. Upon binding to ezrin, the intramolecular domain-domain interaction is released.

Autoinhibitory domains (AIDs)

Target domain	14-94 (PDZ1 domain); 154-234 (PDZ2 domain)
Relief mechanism	Partner binding
Assay	Structural analysis

AID

242-358 (CT domain, EB domain, and PDZ-binding motif)

Target domain

14-94 (PDZ1 domain); 154-234 (PDZ2 domain)

Relief mechanism

Partner binding (ezrin binding to EB domain)

Assay

Structural analysis

Accessory elements

No accessory elements

References

Bhattacharya S et al. (2010) "A conformational switch in the scaffolding protein NHERF1 controls autoinhibition and complex formation", The Journal of biological chemistry, 285, 9981-9994

Autoinhibited structure

Activated structure

21 structures for O14745

Entry ID	Method	Resolution	Chain	Position	Source
1G9O	X-ray	150 A	A	11-99	PDB
1GQ4	X-ray	190 A	A	11-94	PDB
1GQ5	X-ray	220 A	A	11-94	PDB
1I92	X-ray	170 A	A	11-94	PDB
1SGH	X-ray	350 A	B	321-358	PDB
2D10	X-ray	250 A	E/F/G/H	331-358	PDB
2JXO	NMR	-	A	150-240	PDB
2KJD	NMR	-	A	150-270	PDB
2KRG	NMR	-	A	150-358	PDB
2M0T	NMR	-	A	11-120	PDB
2M0U	NMR	-	A	11-120	PDB
2M0V	NMR	-	A	150-270	PDB
2OZF	X-ray	150 A	A	150-235	PDB
4JL7	X-ray	116 A	A	11-95	PDB
4LMM	X-ray	110 A	A	11-94	PDB
4MPA	X-ray	110 A	A	11-94	PDB
4N6X	X-ray	105 A	A	11-94	PDB
4PQW	X-ray	147 A	A	11-94	PDB
4Q3H	X-ray	144 A	A/B	150-234	PDB
6RQR	X-ray	220 A	A/B	150-269	PDB
AF-O14745-F1	Predicted				AlphaFoldDB

372 variants for O14745

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs35910969 CA117368 RCV000005588	110	L>V	Nephrolithiasis/osteoporosis, hypophosphatemic, 2 (nphlop2) Hypophosphatemic nephrolithiasis/osteoporosis 2 [Ensembl, ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA117369 RCV000005589 rs41282065 RCV000484640	153	R>Q	Nephrolithiasis/osteoporosis, hypophosphatemic, 2 (nphlop2) Hypophosphatemic nephrolithiasis/osteoporosis 2 [Ensembl, ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA8750680 rs147104235 RCV000680101	219	I>M	Hypophosphatemic nephrolithiasis/osteoporosis 2 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA117370 RCV000005590 RCV002054417 RCV000454997 RCV000662330 rs119486097	225	E>K	Nephrolithiasis/osteoporosis, hypophosphatemic, 2 (nphlop2) Hypophosphatemic nephrolithiasis/osteoporosis 2 [Ensembl, ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP TOPMed dbSNP gnomAD
CA400935767 rs1324850593	2	S>N		No	ClinGen TOPMed gnomAD
CA400935771 rs1400553918	2	S>R		No	ClinGen gnomAD
CA8750519 rs769816246	3	A>G		No	ClinGen ExAC gnomAD
CA400935776 rs769816246	3	A>V		No	ClinGen ExAC gnomAD
CA400935782 rs1371847700	4	D>V		No	ClinGen gnomAD
rs1223666496 CA400935787	5	A>T		No	ClinGen gnomAD
rs759634038 CA8750521	5	A>V		No	ClinGen ExAC gnomAD
rs1212202572 CA400935800	7	A>V		No	ClinGen gnomAD
CA8750522 rs772345283	8	G>A		No	ClinGen ExAC TOPMed gnomAD
rs772345283 CA400935805	8	G>E		No	ClinGen ExAC TOPMed gnomAD
rs1307479058 CA400935802	8	G>R		No	ClinGen TOPMed
CA8750523 rs775644483	9	A>V		No	ClinGen ExAC TOPMed gnomAD
CA293924373 rs942896360	10	P>R		No	ClinGen TOPMed
rs777026648 CA8750525	12	P>S		No	ClinGen ExAC TOPMed gnomAD
CA400935822 rs777026648	12	P>T		No	ClinGen ExAC TOPMed gnomAD
rs1163868389 CA400935843	15	C>F		No	ClinGen gnomAD
rs1400579001 CA400935855	17	L>V		No	ClinGen TOPMed gnomAD
CA8750527 rs201821766	18	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1326302401 CA400935874	20	G>S		No	ClinGen gnomAD
rs1353463791 CA400935882	21	P>A		No	ClinGen TOPMed gnomAD
rs1448079674 CA400935885	21	P>L		No	ClinGen TOPMed gnomAD
rs1448079674 CA400935884	21	P>R		No	ClinGen TOPMed gnomAD
rs1353463791 CA400935880	21	P>S		No	ClinGen TOPMed gnomAD
rs1357908170 CA400935896	23	G>R		No	ClinGen TOPMed gnomAD
CA400935899 rs1231865609	23	G>V		No	ClinGen gnomAD
rs1292995957 CA400935901	24	Y>H		No	ClinGen TOPMed gnomAD
rs1216134173 CA400935903	24	Y>S		No	ClinGen TOPMed
rs1216500303 CA400935909	25	G>R		No	ClinGen TOPMed gnomAD
CA400935908 rs1216500303	25	G>S		No	ClinGen TOPMed gnomAD
rs1273007489 CA400935915	26	F>L		No	ClinGen TOPMed
rs757966579 CA293924452	27	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA8750530 rs765897805	29	H>N		No	ClinGen ExAC TOPMed gnomAD
rs903284621 CA400935939	29	H>Q		No	ClinGen TOPMed gnomAD
rs751217204 CA8750531	30	G>E		No	ClinGen ExAC TOPMed gnomAD
CA400935943 rs1390982901	30	G>R		No	ClinGen TOPMed
CA400935957 rs1403241286	32	K>T		No	ClinGen gnomAD
CA8750532 rs754627534	33	G>S		No	ClinGen ExAC TOPMed gnomAD
CA8750533 rs780880396	34	K>E		No	ClinGen ExAC TOPMed gnomAD
CA8750535 rs780010556	34	K>N		No	ClinGen ExAC TOPMed gnomAD
CA400935971 rs1346430700	34	K>R		No	ClinGen gnomAD
CA8750538 rs374560863	37	Q>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1377809441 CA400935995	38	Y>D		No	ClinGen gnomAD
rs1312680441 CA400936001	39	I>L		No	ClinGen gnomAD
CA293924491 rs1033435287	40	R>Q		No	ClinGen gnomAD
CA400936009 rs1341577481	40	R>W		No	ClinGen gnomAD
CA8750539 rs368955507	41	L>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA400936026 rs1418096580	43	E>A		No	ClinGen TOPMed
CA400936029 rs1219891231	43	E>D		No	ClinGen TOPMed gnomAD
CA400936028 rs1219891231	43	E>D		No	ClinGen TOPMed gnomAD
rs1338968839 CA400936022	43	E>K		No	ClinGen TOPMed gnomAD
rs1338968839 CA400936023	43	E>Q		No	ClinGen TOPMed gnomAD
rs35738271 CA8750540	44	P>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs747239085 CA8750541	44	P>L		No	ClinGen ExAC gnomAD
rs35738271 CA400936030	44	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1289723190 CA400936037	45	G>D		No	ClinGen gnomAD
CA8750543 rs776990193	46	S>L		No	ClinGen ExAC TOPMed gnomAD
CA400936042 rs1489999120	46	S>P		No	ClinGen gnomAD
CA400936049 rs1241173893	47	P>L		No	ClinGen gnomAD
CA400936047 rs1190735666	47	P>S		No	ClinGen gnomAD
rs765579547 CA400936058	49	E>*		No	ClinGen ExAC TOPMed gnomAD
rs966154702 CA293924594	49	E>G		No	ClinGen gnomAD
rs765579547 CA8750545	49	E>K		No	ClinGen ExAC TOPMed gnomAD
CA400936068 rs1433540629	50	K>R		No	ClinGen gnomAD
CA8750546 rs773765376	51	A>T		No	ClinGen ExAC gnomAD
rs1315317808 CA400936074	51	A>V		No	ClinGen TOPMed
CA8750548 rs765846960	52	G>E		No	ClinGen ExAC gnomAD
CA8750547 rs577901501	52	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA400936116 rs1305870256	55	A>V		No	ClinGen gnomAD
CA293924636 rs200659767	56	G>R		No	ClinGen 1000Genomes gnomAD
rs751038948 CA8750549	57	D>G		No	ClinGen ExAC gnomAD
rs1352675686 CA400936136	57	D>Y		No	ClinGen gnomAD
CA293924649 rs372160939	58	R>Q		No	ClinGen ESP gnomAD
rs368325587 CA8750550	58	R>W		No	ClinGen ESP ExAC gnomAD
rs201382493 CA8750551	60	V>G		No	ClinGen ExAC gnomAD
rs752546414 CA8750552	61	E>G		No	ClinGen ExAC gnomAD
rs777700723 CA8750554	62	V>G		No	ClinGen ExAC gnomAD
rs756041118 CA8750553	62	V>M		No	ClinGen ExAC gnomAD
CA400936217 rs1364893506	63	N>D		No	ClinGen gnomAD
CA8750555 rs376770068	66	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA400936293 rs1157211822	67	V>M		No	ClinGen gnomAD
RCV000722205 rs1567820191	68	E>missing		No	ClinVar dbSNP
rs139622189 RCV000521667 CA8750557	68	E>A		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA400936350 rs1328250383	70	E>K		No	ClinGen gnomAD
CA400936392 rs1337503157	72	H>Q		No	ClinGen TOPMed gnomAD
rs768761604 CA8750559	72	H>R		No	ClinGen ExAC gnomAD
CA400936382 rs1378088620	72	H>Y		No	ClinGen TOPMed
CA8750560 rs776902657	73	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA400936397 rs776902657	73	Q>K		No	ClinGen ExAC TOPMed gnomAD
CA8750561 rs748352647	73	Q>L		No	ClinGen ExAC gnomAD
CA293924787 rs1025981329	78	R>C		No	ClinGen Ensembl
CA400936485 rs914885580	80	R>C		No	ClinGen TOPMed gnomAD
rs914885580 CA293924793	80	R>G		No	ClinGen TOPMed gnomAD
rs914885580 CA400936484	80	R>S		No	ClinGen TOPMed gnomAD
CA8750563 rs201874131	81	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1198761510 CA400936496	82	A>S		No	ClinGen gnomAD
CA400936499 rs1251988791	82	A>V		No	ClinGen gnomAD
CA8750564 rs763400849	83	L>R		No	ClinGen ExAC TOPMed gnomAD
rs1363720161 CA400936506	84	N>D		No	ClinGen gnomAD
rs781350887 CA293924816	84	N>K		No	ClinGen ExAC TOPMed gnomAD
rs1485048608 CA400936510	84	N>S		No	ClinGen TOPMed
rs1347256478 CA400936512	85	A>T		No	ClinGen TOPMed
CA293924825 rs908869976	86	V>L		No	ClinGen Ensembl
rs934163535 CA293924829	87	R>C		No	ClinGen TOPMed gnomAD
rs959095474 CA293924834	87	R>H		No	ClinGen gnomAD
CA400936543 rs1398795274	91	V>I		No	ClinGen gnomAD
CA400936549 rs1328178314	92	D>N		No	ClinGen TOPMed gnomAD
rs760384895 CA8750571	94	E>*		No	ClinGen ExAC TOPMed gnomAD
CA400936563 rs760384895	94	E>K		No	ClinGen ExAC TOPMed gnomAD
CA400936579 rs1218915402	96	D>G		No	ClinGen gnomAD
CA8750572 rs764023307	96	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1252668447 CA400936587	97	E>G		No	ClinGen gnomAD
rs1434899856 CA400936583	97	E>K		No	ClinGen TOPMed
rs1479408450 CA400936595	98	Q>R		No	ClinGen gnomAD
CA8750573 rs753650408	103	G>C		No	ClinGen ExAC TOPMed gnomAD
CA400936627 rs753650408	103	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1038411133 CA293924925	106	V>I		No	ClinGen TOPMed gnomAD
CA400936650 rs1357979063	107	R>G		No	ClinGen gnomAD
CA8750574 rs537924938	109	E>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA400936667 rs1167350392	109	E>D		No	ClinGen gnomAD
rs556165171 CA8750575	109	E>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1354626148 CA400936683	112	R>L		No	ClinGen gnomAD
CA293925001 rs1007573140	113	A>P		No	ClinGen TOPMed gnomAD
rs1305339091 CA400936693	114	Q>R		No	ClinGen gnomAD
rs1485442722 CA400936731	120	A>T		No	ClinGen TOPMed
CA8750577 rs781225507	120	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1349267248 CA400936736	121	E>K		No	ClinGen gnomAD
CA400936745 rs1213706099	122	P>A		No	ClinGen gnomAD
CA400936748 rs528033874	122	P>L		No	ClinGen 1000Genomes TOPMed
CA293925047 rs528033874	122	P>R		No	ClinGen 1000Genomes TOPMed
CA400936752 rs1186623830	123	P>L		No	ClinGen gnomAD
CA400936751 rs1485589998	123	P>S		No	ClinGen gnomAD
CA400936767 rs1426895066	126	A>T		No	ClinGen gnomAD
rs1192603284 CA400936772	126	A>V		No	ClinGen gnomAD
rs1395819936 CA400936780	127	E>D		No	ClinGen gnomAD
CA400936786 rs1269662949	128	V>E		No	ClinGen Ensembl
CA400936785 rs1269662949	128	V>G		No	ClinGen Ensembl
CA400936781 rs1385946003	128	V>L		No	ClinGen gnomAD
rs1171761541 CA400936795	130	G>R		No	ClinGen gnomAD
CA400936801 rs1374757474	131	A>T		No	ClinGen gnomAD
rs1598336792 CA400936822	134	E>K		No	ClinGen Ensembl
CA400936839 rs1454129192	136	E>*		No	ClinGen gnomAD
CA400936865 rs1290342520	139	E>D		No	ClinGen gnomAD
CA400936869 rs1354404293	140	A>D		No	ClinGen TOPMed
CA293925111 rs1003334664	142	K>N		No	ClinGen TOPMed gnomAD
CA400936902 rs1381259383	142	K>R		No	ClinGen gnomAD
rs1411150897 CA400936918	143	S>N		No	ClinGen TOPMed
rs778131619 CA8750581	145	P>Q		No	ClinGen ExAC
rs1026436067 CA293925131	146	E>G		No	ClinGen gnomAD
rs1231440104 CA400936967	146	E>K		No	ClinGen gnomAD
rs1231440104 CA400936963	146	E>Q		No	ClinGen gnomAD
CA293925144 rs950926703	147	Q>H		No	ClinGen TOPMed gnomAD
rs1598342937 CA400938763	148	R>C		No	ClinGen Ensembl
rs370781758 CA8750596	148	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs370781758 CA400938765	148	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA8750599 rs756341850	149	E>G		No	ClinGen ExAC TOPMed gnomAD
CA8750598 rs752725349	149	E>K		No	ClinGen ExAC gnomAD
rs777906037 CA400938789	150	L>H		No	ClinGen ExAC TOPMed gnomAD
rs777906037 CA8750600	150	L>R		No	ClinGen ExAC TOPMed gnomAD
rs771386787 CA8750602	151	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs541355230 CA8750601	151	R>W		No	ClinGen ExAC TOPMed gnomAD
CA8750603 rs779127116	153	R>W		No	ClinGen ExAC gnomAD
rs772669485 CA8750604	155	C>R		No	ClinGen ExAC TOPMed gnomAD
CA8750605 rs775166247	156	T>A		No	ClinGen ExAC gnomAD
rs1371737560 CA400938843	156	T>I		No	ClinGen gnomAD
CA293940063 rs967768641	157	M>L		No	ClinGen TOPMed gnomAD
CA400938884 rs1294246004	159	K>T		No	ClinGen gnomAD
rs1337248315 CA400938911	161	P>L		No	ClinGen gnomAD
CA8750606 rs746464571	163	G>D		No	ClinGen ExAC TOPMed gnomAD
CA400938945 rs1470649814	164	Y>C		No	ClinGen gnomAD
CA400938989 rs749814524	167	N>I		No	ClinGen ExAC gnomAD
CA8750608 rs749814524	167	N>S		No	ClinGen ExAC gnomAD
CA400938986 rs749814524	167	N>T		No	ClinGen ExAC gnomAD
CA293940125 rs373243340	168	L>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs373243340 CA8750610	168	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA8750611 rs772840570	169	H>P		No	ClinGen ExAC gnomAD
CA400939046 rs1193436828	171	D>E		No	ClinGen TOPMed
rs762899974 CA8750612	171	D>N		No	ClinGen ExAC gnomAD
CA8750613 RCV000887508 rs149161808	173	S>F		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA8750614 rs752778784	174	K>R		No	ClinGen ExAC gnomAD
rs1163841803 CA400939107	176	G>D		No	ClinGen gnomAD
rs1163841803 CA400939110	176	G>V		No	ClinGen gnomAD
CA8750615 rs756254122	177	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA400939114 rs756254122	177	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA400939140 rs1598343026	179	I>L		No	ClinGen Ensembl
rs146832150 CA8750617	180	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA8750618 rs146832150	180	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs146832150 CA8750619	180	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs200609318 CA8750616	180	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs573918301 CA8750620	182	V>A		No	ClinGen 1000Genomes ExAC gnomAD
rs1353296873 CA400939170	182	V>M		No	ClinGen gnomAD
CA8750623 rs200926419	185	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs768327472 CA400939234	186	S>C		No	ClinGen ExAC TOPMed gnomAD
rs768327472 CA8750624	186	S>F		No	ClinGen ExAC TOPMed gnomAD
rs775971197 CA8750625	187	P>L		No	ClinGen ExAC gnomAD
COSM3820503 rs775971197 CA8750626	187	P>R	breast [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA8750628 rs773071671	189	E>K		No	ClinGen ExAC gnomAD
CA400939289 rs1157237860	191	S>*		No	ClinGen Ensembl
rs774331136 CA400939319	194	R>P		No	ClinGen ExAC TOPMed gnomAD
rs774331136 CA8750631	194	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs766158601 CA8750630	194	R>W		No	ClinGen ExAC gnomAD
CA400939334 rs1293007256	195	A>V		No	ClinGen TOPMed
rs956472744 CA293940298	196	Q>L		No	ClinGen Ensembl
CA400939361 rs1242342663	197	D>V		No	ClinGen gnomAD
rs764277046 CA8750633	198	R>H		No	ClinGen ExAC TOPMed gnomAD
rs764277046 CA400939370	198	R>L		No	ClinGen ExAC TOPMed gnomAD
CA400939366 rs1476164667	198	R>S		No	ClinGen gnomAD
rs753824169 CA8750634	199	I>T		No	ClinGen ExAC gnomAD
rs765322250 CA8750636	200	V>A		No	ClinGen ExAC gnomAD
rs757524454 CA8750635	200	V>M		No	ClinGen ExAC TOPMed gnomAD
CA400939399 rs1377786866	201	E>K		No	ClinGen TOPMed gnomAD
rs778705591 CA8750667	204	G>R		No	ClinGen ExAC gnomAD
CA8750669 rs772055107	207	M>I		No	ClinGen ExAC gnomAD
rs745595834 CA8750668	207	M>T		No	ClinGen ExAC
CA400940007 rs1198830308	208	E>K		No	ClinGen gnomAD
rs760635571 CA293941688	209	G>A		No	ClinGen ExAC TOPMed gnomAD
CA8750671 rs760635571	209	G>E		No	ClinGen ExAC TOPMed gnomAD
CA8750673 rs773383515	212	H>L		No	ClinGen ExAC gnomAD
CA8750675 rs766649573	215	V>M		No	ClinGen ExAC TOPMed gnomAD
CA8750677 rs751975880	217	S>P		No	ClinGen ExAC
rs1329530680 CA400940074	218	A>D		No	ClinGen gnomAD
rs551375430 CA8750679	218	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs756614733 CA8750682	220	R>K		No	ClinGen ExAC TOPMed gnomAD
CA293941752 rs1005570601	220	R>S		No	ClinGen Ensembl
CA400940093 rs1335101430	221	A>V		No	ClinGen gnomAD
CA8750683 rs777298818	222	G>S		No	ClinGen ExAC gnomAD
rs373197801 CA8750686	223	G>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs756919776 CA8750685	223	G>R		No	ClinGen ExAC TOPMed gnomAD
CA400940107 rs1440018823	224	D>G		No	ClinGen TOPMed gnomAD
rs1598343796 CA400940146	230	V>G		No	ClinGen Ensembl
CA400940143 rs1457482619	230	V>L		No	ClinGen gnomAD
CA400940151 rs1598343803	231	V>G		No	ClinGen Ensembl
CA8750694 rs749312548	231	V>L		No	ClinGen ExAC TOPMed gnomAD
CA400940149 rs749312548	231	V>L		No	ClinGen ExAC TOPMed gnomAD
CA400940157 rs774771671	232	D>G		No	ClinGen ExAC TOPMed gnomAD
CA8750696 rs774771671	232	D>V		No	ClinGen ExAC TOPMed gnomAD
rs1014461649 CA293941867	233	R>G		No	ClinGen TOPMed gnomAD
rs1020861597 CA293941874	233	R>T		No	ClinGen TOPMed gnomAD
rs1416389395 CA400940179	234	E>K		No	ClinGen gnomAD
RCV000054713 CA216337 rs387907536	236	D>E		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1291121264 CA400940212	236	D>N		No	ClinGen gnomAD
CA8750699 rs369327875	237	E>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA8750698 rs369327875	237	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA8750700 rs369327875	237	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA293941932 rs373061379	241	K>R		No	ClinGen ESP gnomAD
rs201989899 CA8750702	242	C>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA400940349 rs1190440315	243	R>K		No	ClinGen gnomAD
CA400940352 rs1190440315	243	R>T		No	ClinGen gnomAD
rs756831725 CA8750703	244	V>L		No	ClinGen ExAC gnomAD
rs1423425353 CA400940423	248	Q>K		No	ClinGen gnomAD
rs764717359 CA8750704	250	H>N		No	ClinGen ExAC gnomAD
CA293945231 rs1027498511	257	V>L		No	ClinGen TOPMed gnomAD
CA400941213 rs1428096974	258	P>L		No	ClinGen TOPMed
rs575858499 CA8750726	258	P>S		No	ClinGen 1000Genomes ExAC gnomAD
CA8750728 rs754888522	261	N>I		No	ClinGen ExAC TOPMed gnomAD
COSM984118 CA293945283 rs754888522	261	N>S	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs781103116 CA8750729	262	G>R		No	ClinGen ExAC gnomAD
rs756065565 CA8750731	263	E>K		No	ClinGen ExAC gnomAD
CA400941350 rs1462034651	264	I>T		No	ClinGen TOPMed
rs1424550335 CA400941365	265	Q>*		No	ClinGen gnomAD
CA8750779 rs755209522	267	E>K		No	ClinGen ExAC
CA400941666 rs1174791941	268	N>H		No	ClinGen gnomAD
rs781453513 CA293946795	268	N>K		No	ClinGen ExAC TOPMed gnomAD
CA8750781 rs755665225	269	S>G		No	ClinGen ExAC TOPMed gnomAD
CA8750782 rs150507328	270	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs777978291 CA8750783	270	R>H		No	ClinGen ExAC gnomAD
rs777978291 CA8750784	270	R>L		No	ClinGen ExAC gnomAD
rs777978291 CA400941712	270	R>P		No	ClinGen ExAC gnomAD
CA8750785 rs771302473	271	E>D		No	ClinGen ExAC gnomAD
CA293946823 rs774000677	274	A>E		No	ClinGen ExAC gnomAD
rs1318580314 CA400941752	274	A>S		No	ClinGen gnomAD
CA8750786 rs774000677	274	A>V		No	ClinGen ExAC gnomAD
CA8750787 rs745316613	275	E>Q		No	ClinGen ExAC gnomAD
CA400941778 rs1384257631	276	A>S		No	ClinGen TOPMed
CA400941775 rs1384257631	276	A>T		No	ClinGen TOPMed
CA400941783 rs1320432550	276	A>V		No	ClinGen TOPMed
CA400941796 rs1342676283	277	A>V		No	ClinGen gnomAD
CA8750788 rs771691982	278	L>V		No	ClinGen ExAC TOPMed gnomAD
CA8750789 rs775346495	279	E>D		No	ClinGen ExAC TOPMed gnomAD
rs775346495 CA400941821	279	E>D		No	ClinGen ExAC TOPMed gnomAD
CA400941827 rs1477455500	280	S>C		No	ClinGen TOPMed
rs192227522 CA8750790	280	S>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8750791 rs763994159	281	P>L		No	ClinGen ExAC gnomAD
CA400941842 rs1598346069	281	P>S		No	ClinGen Ensembl
rs1468515434 CA400941850	282	R>G		No	ClinGen gnomAD
rs1200282377 CA400941854	282	R>K		No	ClinGen gnomAD
CA400941872 rs1365707474	283	P>L		No	ClinGen Ensembl
rs1413019076 CA400941917	287	R>S		No	ClinGen gnomAD
rs1229030372 CA400941927	288	S>C		No	ClinGen gnomAD
rs1388081112 CA400941932	289	A>T		No	ClinGen gnomAD
CA400941942 rs1441710219	289	A>V		No	ClinGen gnomAD
CA400941944 rs1428891804	290	S>P		No	ClinGen TOPMed
CA293946880 rs1020242568	293	T>A		No	ClinGen TOPMed
rs765104894 CA8750795	294	S>I		No	ClinGen ExAC gnomAD
rs765104894 CA400941996	294	S>N		No	ClinGen ExAC gnomAD
rs755119543 CA8750797	295	E>G		No	ClinGen ExAC gnomAD
rs750349847 CA8750796	295	E>K		No	ClinGen ExAC TOPMed gnomAD
rs767555645 CA8750798	296	E>G		No	ClinGen ExAC gnomAD
CA400942095 rs1176169810	298	N>K		No	ClinGen gnomAD
CA400942112 rs1567826304	300	Q>*		No	ClinGen Ensembl
CA400942124 rs1366836783	301	D>H		No	ClinGen gnomAD
rs141613848 CA8750824	301	D>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA293947352 rs569186312	303	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8750825 rs569186312	303	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8750826 rs375430336	304	P>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1307140220 CA400942165	304	P>R		No	ClinGen gnomAD
rs938666218 CA293947375	305	K>E		No	ClinGen TOPMed gnomAD
CA400942168 rs938666218	305	K>Q		No	ClinGen TOPMed gnomAD
CA8750827 rs758923316	305	K>R		No	ClinGen ExAC gnomAD
rs371164739 CA8750828	306	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA8750829 rs746450148	307	D>H		No	ClinGen ExAC TOPMed gnomAD
CA8750830 rs768201403	307	D>V		No	ClinGen ExAC gnomAD
rs1298994306 CA400942200	308	S>C		No	ClinGen gnomAD
rs1344882857 CA400942204	309	T>P		No	ClinGen TOPMed gnomAD
CA8750831 rs375193779	310	A>V		No	ClinGen ESP ExAC gnomAD
rs769628266 CA8750834	311	P>A		No	ClinGen ExAC TOPMed gnomAD
CA8750833 rs769628266	311	P>T		No	ClinGen ExAC TOPMed gnomAD
rs762910299 CA8750835	312	S>L		No	ClinGen ExAC TOPMed gnomAD
CA400942230 rs1567826349	314	T>A		No	ClinGen Ensembl
CA8750839 rs760721877	315	S>F		No	ClinGen ExAC gnomAD
CA8750838 rs146249672	315	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA8750841 rs754043982	316	S>F		No	ClinGen ExAC gnomAD
CA8750846 rs780488061	318	D>A		No	ClinGen ExAC TOPMed gnomAD
CA8750844 rs750773487	318	D>N		No	ClinGen ExAC TOPMed gnomAD
rs750773487 CA8750845	318	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs1300723847 CA400942266	319	P>A		No	ClinGen gnomAD
rs387907537 CA216339 RCV000054714	320	I>F		No	ClinGen ClinVar Ensembl dbSNP
rs752105483 CA8750848	320	I>M		No	ClinGen ExAC gnomAD
CA400942282 rs1472959207	320	I>N		No	ClinGen TOPMed
rs1405098726 CA400942304	322	D>E		No	ClinGen gnomAD
CA400942330 rs1411379865	324	N>S		No	ClinGen TOPMed
CA400942340 rs1362370010	325	I>L		No	ClinGen TOPMed gnomAD
rs780732081 CA8750850	325	I>S		No	ClinGen ExAC gnomAD
CA8750851 rs780732081	325	I>T		No	ClinGen ExAC gnomAD
rs1362370010 CA400942342	325	I>V		No	ClinGen TOPMed gnomAD
CA400942360 rs1468089649	326	S>F		No	ClinGen TOPMed gnomAD
rs1295493783 CA400942353	326	S>P		No	ClinGen gnomAD
rs1221311881 CA400942380	328	A>V		No	ClinGen TOPMed
rs1209468952 CA400942404	329	M>I		No	ClinGen gnomAD
CA400942410 rs1286950048	330	A>T		No	ClinGen TOPMed
rs777549830 CA8750854	330	A>V		No	ClinGen ExAC gnomAD
rs770699023 CA8750856	332	E>D		No	ClinGen ExAC gnomAD
rs749024706 CA8750855	332	E>V		No	ClinGen ExAC gnomAD
rs534067895 CA8750857	333	R>K		No	ClinGen 1000Genomes ExAC gnomAD
rs1173646134 CA400942498	334	A>V		No	ClinGen gnomAD
rs1457486939 CA400942514	335	H>P		No	ClinGen gnomAD
CA400942537 rs1160884660	336	Q>R		No	ClinGen gnomAD
CA8750860 rs768665440	338	R>C		No	ClinGen ExAC TOPMed gnomAD
CA8750861 rs776719627	338	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1359713263 CA400942590	339	S>N		No	ClinGen gnomAD
CA8750862 rs762153640	340	S>N		No	ClinGen ExAC TOPMed gnomAD
CA293947672 rs957974780	341	K>*		No	ClinGen TOPMed
CA400942630 rs1299582805	341	K>R		No	ClinGen gnomAD
CA8750864 rs773559482	342	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA293947680 rs554217161	342	R>W		No	ClinGen 1000Genomes TOPMed
rs387907535 RCV000054711 CA216333	344	P>A		No	ClinGen ClinVar Ensembl dbSNP
rs199563744 CA8750865	344	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs199563744 CA400942673	344	P>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs199563744 CA8750866	344	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA293947714 rs963229518	346	M>I		No	ClinGen Ensembl
CA293947726 rs200658339	347	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8750869 rs200658339	347	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8750870 rs144154644	348	W>*		No	ClinGen ESP ExAC gnomAD
rs1489393185 CA400942749	348	W>*		No	ClinGen gnomAD
CA400942751 rs1489393185	348	W>C		No	ClinGen gnomAD
CA400942792 rs1265356095	351	K>R		No	ClinGen TOPMed gnomAD
rs144091666 CA8750872 COSM277349	353	E>K	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA293947771 rs951159583	354	L>F		No	ClinGen TOPMed gnomAD
rs1409241993 CA400942827	356	S>N		No	ClinGen gnomAD

1 associated diseases with O14745

[MIM: 612287]: Nephrolithiasis/osteoporosis, hypophosphatemic, 2 (NPHLOP2)

A disease characterized by decreased renal phosphate absorption, renal phosphate wasting, hypophosphatemia, hyperphosphaturia, hypercalciuria, nephrolithiasis and osteoporosis. {ECO:0000269|PubMed:18784102, ECO:0000269|PubMed:22506049}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

A disease characterized by decreased renal phosphate absorption, renal phosphate wasting, hypophosphatemia, hyperphosphaturia, hypercalciuria, nephrolithiasis and osteoporosis. {ECO:0000269|PubMed:18784102, ECO:0000269|PubMed:22506049}. Note=The disease is caused by variants affecting the gene represented in this entry.

3 regional properties for O14745

Type	Name	Position	InterPro Accession
domain	PDZ domain	14 - 94	IPR001478-1
domain	PDZ domain	154 - 234	IPR001478-2
domain	EBP50, C-terminal	235 - 358	IPR015098

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm Apical cell membrane Endomembrane system; Peripheral membrane protein Cell projection, filopodium Cell projection, ruffle Cell projection, microvillus	Translocates from the cytoplasm to the apical cell membrane in a PODXL-dependent manner Colocalizes with CFTR at the midpiece of sperm tail (By similarity) Colocalizes with actin in microvilli-rich apical regions of the syncytiotrophoblast Found in microvilli, ruffling membrane and filopodia of HeLa cells Present in lipid rafts of T-cells
PANTHER Family	PTHR14191	PDZ DOMAIN CONTAINING PROTEIN
PANTHER Subfamily	PTHR14191:SF7	NA(+)_H(+) EXCHANGE REGULATORY COFACTOR NHE-RF1
PANTHER Protein Class	scaffold/adaptor protein
PANTHER Pathway Category	No pathway information available

18 GO annotations of cellular component

Name	Definition
actin cytoskeleton	The part of the cytoskeleton (the internal framework of a cell) composed of actin and associated proteins. Includes actin cytoskeleton-associated complexes.
apical plasma membrane	The region of the plasma membrane located at the apical end of the cell.
brush border membrane	The portion of the plasma membrane surrounding the brush border.
cell periphery	The part of a cell encompassing the cell cortex, the plasma membrane, and any external encapsulating structures.
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
endomembrane system	A collection of membranous structures involved in transport within the cell. The main components of the endomembrane system are endoplasmic reticulum, Golgi bodies, vesicles, cell membrane and nuclear envelope. Members of the endomembrane system pass materials through each other or though the use of vesicles.
extracellular exosome	A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm.
filopodium	Thin, stiff, actin-based protrusion extended by the leading edge of a motile cell such as a crawling fibroblast or amoeba, or an axonal or dendritic growth cone, or a dendritic shaft.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
membrane raft	Any of the small (10-200 nm), heterogeneous, highly dynamic, sterol- and sphingolipid-enriched membrane domains that compartmentalize cellular processes. Small rafts can sometimes be stabilized to form larger platforms through protein-protein and protein-lipid interactions.
microvillus	Thin cylindrical membrane-covered projections on the surface of an animal cell containing a core bundle of actin filaments. Present in especially large numbers on the absorptive surface of intestinal cells.
microvillus membrane	The portion of the plasma membrane surrounding a microvillus.
perinuclear region of cytoplasm	Cytoplasm situated near, or occurring around, the nucleus.
plasma membrane protein complex	Any protein complex that is part of the plasma membrane.
ruffle	Projection at the leading edge of a crawling cell; the protrusions are supported by a microfilament meshwork.
sperm midpiece	The highly organized segment of the sperm flagellum which begins at the connecting piece and is characterized by the presence of 9 outer dense fibers (ODFs) that lie outside each of the 9 outer axonemal microtubule doublets and by a sheath of mitochondria that encloses the ODFs and the axoneme; the midpiece terminates about one-fourth of the way down the sperm flagellum at the annulus, which marks the beginning of the principal piece.
stereocilium tip	A distinct compartment at the tip of a stereocilium, distal to the site of attachment to the apical cell surface. It consists of a dense matrix bridging the barbed ends of the stereocilium actin filaments with the overlying plasma membrane, is dynamic compared to the shaft, and is required for stereocilium elongation.
vesicle	Any small, fluid-filled, spherical organelle enclosed by membrane.

16 GO annotations of molecular function

Name	Definition
beta-2 adrenergic receptor binding	Binding to a beta-2 adrenergic receptor.
beta-catenin binding	Binding to a catenin beta subunit.
chloride channel regulator activity	Binds to and modulates the activity of a chloride channel.
dopamine receptor binding	Binding to a dopamine receptor.
gamma-aminobutyric acid transmembrane transporter activity	Enables the transfer of gamma-aminobutyric acid from one side of a membrane to the other. Gamma-aminobutyric acid is 4-aminobutyrate (GABA).
growth factor receptor binding	Binding to a growth factor receptor.
myosin II binding	Binding to a class II myosin, any member of the class of 'conventional' double-headed myosins that includes muscle myosin.
PDZ domain binding	Binding to a PDZ domain of a protein, a domain found in diverse signaling proteins.
phosphatase binding	Binding to a phosphatase.
protein N-terminus binding	Binding to a protein N-terminus, the end of any peptide chain at which the 2-amino (or 2-imino) function of a constituent amino acid is not attached in peptide linkage to another amino-acid residue.
protein self-association	Binding to a domain within the same polypeptide.
protein-containing complex binding	Binding to a macromolecular complex.
protein-membrane adaptor activity	The binding activity of a molecule that brings together a protein or a protein complex with a membrane, or bringing together two membranes, either via membrane lipid binding or by interacting with a membrane protein, to establish or maintain the localization of the protein, protein complex or organelle.
signaling receptor binding	Binding to one or more specific sites on a receptor molecule, a macromolecule that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function.
type 2 metabotropic glutamate receptor binding	Binding to a type 2 metabotropic glutamate receptor.
type 3 metabotropic glutamate receptor binding	Binding to a type 3 metabotropic glutamate receptor.

43 GO annotations of biological process

Name	Definition
actin cytoskeleton organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising actin filaments and their associated proteins.
adenylate cyclase-activating dopamine receptor signaling pathway	An adenylate cyclase-activating G protein-coupled receptor signaling pathway initiated by dopamine binding to its receptor, and ending with the regulation of a downstream cellular process.
auditory receptor cell stereocilium organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a stereocilium. A stereocilium is an actin-based protrusion from the apical surface of auditory hair cells.
bile acid secretion	The regulated release of bile acid, composed of any of a group of steroid carboxylic acids occurring in bile, by a cell or a tissue.
cellular phosphate ion homeostasis	Any process involved in the maintenance of an internal steady state of phosphate ions at the level of a cell.
cerebrospinal fluid circulation	The neurological system process driven by motile cilia on ependymal cells of the brain by which cerebrospinal fluid circulates from the sites of secretion to the sites of absorption. In ventricular cavities, the flow is unidirectional and rostrocaudal, in subarachnoid spaces, the flow is multi-directional.
cilium organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a cilium, a specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface. Each cilium is bounded by an extrusion of the cytoplasmic membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole.
establishment of epithelial cell apical/basal polarity	The specification and formation of the apicobasal polarity of an epithelial cell.
establishment of Golgi localization	The directed movement of the Golgi to a specific location.
gamma-aminobutyric acid import	The directed movement of gamma-aminobutyric acid (GABA, 4-aminobutyrate) into a cell or organelle.
gland morphogenesis	The process in which the anatomical structures of a gland are generated and organized.
glutathione transport	The directed movement of glutathione, the tripeptide glutamylcysteinylglycine, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
import across plasma membrane	The directed movement of some substance from outside of a cell, across the plasma membrane and into the cytosol.
maintenance of epithelial cell apical/basal polarity	The maintenance of the apicobasal polarity of an epithelial cell.
microvillus assembly	Formation of a microvillus, a thin cylindrical membrane-covered projection on the surface of a cell.
morphogenesis of an epithelium	The process in which the anatomical structures of epithelia are generated and organized. An epithelium consists of closely packed cells arranged in one or more layers, that covers the outer surfaces of the body or lines any internal cavity or tube.
negative regulation of canonical Wnt signaling pathway	Any process that decreases the rate, frequency, or extent of the Wnt signaling pathway through beta-catenin, the series of molecular signals initiated by binding of a Wnt protein to a frizzled family receptor on the surface of the target cell, followed by propagation of the signal via beta-catenin, and ending with a change in transcription of target genes.
negative regulation of cell migration	Any process that stops, prevents, or reduces the frequency, rate or extent of cell migration.
negative regulation of cell population proliferation	Any process that stops, prevents or reduces the rate or extent of cell proliferation.
negative regulation of ERK1 and ERK2 cascade	Any process that stops, prevents, or reduces the frequency, rate or extent of signal transduction mediated by the ERK1 and ERK2 cascade.
negative regulation of mitotic cell cycle	Any process that stops, prevents or reduces the rate or extent of progression through the mitotic cell cycle.
negative regulation of phosphatidylinositol 3-kinase signaling	Any process that stops, prevents, or reduces the frequency, rate or extent of signal transduction mediated by the phosphatidylinositol 3-kinase cascade.
negative regulation of platelet-derived growth factor receptor signaling pathway	Any process that stops, prevents, or reduces the frequency, rate or extent of the platelet-derived growth factor receptor signaling pathway.
negative regulation of protein kinase B signaling	Any process that stops, prevents, or reduces the frequency, rate or extent of protein kinase B signaling, a series of reactions mediated by the intracellular serine/threonine kinase protein kinase B.
negative regulation of sodium:proton antiporter activity	Any process that stops or reduces the activity of a sodium:hydrogen antiporter, which catalyzes the reaction: Na+(out) + H+(in) = Na+(in) + H+(out).
nuclear migration	The directed movement of the nucleus to a specific location within a cell.
phospholipase C-activating dopamine receptor signaling pathway	A phospholipase C-activating receptor G protein-coupled receptor signaling pathway initiated by dopamine binding to its receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription.
plasma membrane organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the plasma membrane.
positive regulation of intrinsic apoptotic signaling pathway	Any process that activates or increases the frequency, rate or extent of intrinsic apoptotic signaling pathway.
positive regulation of ion transmembrane transport	Any process that activates or increases the frequency, rate or extent of the directed movement of ions from one side of a membrane to the other.
protein localization to plasma membrane	A process in which a protein is transported to, or maintained in, a specific location in the plasma membrane.
protein-containing complex assembly	The aggregation, arrangement and bonding together of a set of macromolecules to form a protein-containing complex.
regulation of cell shape	Any process that modulates the surface configuration of a cell.
regulation of cell size	Any process that modulates the size of a cell.
regulation of excretion	Any process that modulates the frequency, rate, or extent of excretion, the elimination by an organism of the waste products that arise as a result of metabolic activity.
regulation of protein kinase activity	Any process that modulates the frequency, rate or extent of protein kinase activity.
regulation of sodium:proton antiporter activity	Any process that modulates the activity of a sodium:hydrogen antiporter, which catalyzes the reaction: Na+(out) + H+(in) = Na+(in) + H+(out).
renal absorption	A renal system process in which water, ions, glucose and proteins are taken up from the collecting ducts, glomerulus and proximal and distal loops of the nephron. In non-mammalian species, absorption may occur in related structures (e.g. protein absorption is observed in nephrocytes in Drosophila, see PMID:23264686).
renal phosphate ion absorption	A renal system process in which phosphate ions are taken up from the collecting ducts and proximal and distal loops of the nephron. In non-mammalian species, absorption may occur in related structures.
renal sodium ion transport	The directed movement of sodium ions (Na+) by the renal system.
sensory perception of sound	The series of events required for an organism to receive an auditory stimulus, convert it to a molecular signal, and recognize and characterize the signal. Sonic stimuli are detected in the form of vibrations and are processed to form a sound.
transport across blood-brain barrier	The directed movement of substances (e.g. macromolecules, small molecules, ions) through the blood-brain barrier.
Wnt signaling pathway	The series of molecular signals initiated by binding of a Wnt protein to a frizzled family receptor on the surface of the target cell and ending with a change in cell state.

11 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q3SZK8	NHERF1	Na	Bos taurus (Bovine)	SS
Q5ZM14	NHERF1	Na	Gallus gallus (Chicken)	SS
Q24008	inaD	Inactivation-no-after-potential D protein	Drosophila melanogaster (Fruit fly)	PR
Q9Y6N9	USH1C	Harmonin	Homo sapiens (Human)	PR
Q86UT5	PDZD3	Na(+)/H(+) exchange regulatory cofactor NHE-RF4	Homo sapiens (Human)	PR
Q99MJ6	Pdzd3	Na(+)/H(+) exchange regulatory cofactor NHE-RF4	Mus musculus (Mouse)	PR
Q9JIL4	Pdzk1	Na(+)/H(+) exchange regulatory cofactor NHE-RF3	Mus musculus (Mouse)	PR
Q0QWG9	Grid2ip	Delphilin	Mus musculus (Mouse)	PR
P70441	Slc9a3r1	Na(+)/H(+) exchange regulatory cofactor NHE-RF1	Mus musculus (Mouse)	PR
Q9JJ40	Pdzk1	Na(+)/H(+) exchange regulatory cofactor NHE-RF3	Rattus norvegicus (Rat)	PR
Q9JJ19	Nherf1	Na	Rattus norvegicus (Rat)	SS

10	20	30	40	50	60
MSADAAAGAP	LPRLCCLEKG	PNGYGFHLHG	EKGKLGQYIR	LVEPGSPAEK	AGLLAGDRLV
70	80	90	100	110	120
EVNGENVEKE	THQQVVSRIR	AALNAVRLLV	VDPETDEQLQ	KLGVQVREEL	LRAQEAPGQA
130	140	150	160	170	180
EPPAAAEVQG	AGNENEPREA	DKSHPEQREL	RPRLCTMKKG	PSGYGFNLHS	DKSKPGQFIR
190	200	210	220	230	240
SVDPDSPAEA	SGLRAQDRIV	EVNGVCMEGK	QHGDVVSAIR	AGGDETKLLV	VDRETDEFFK
250	260	270	280	290	300
KCRVIPSQEH	LNGPLPVPFT	NGEIQKENSR	EALAEAALES	PRPALVRSAS	SDTSEELNSQ
310	320	330	340	350
DSPPKQDSTA	PSSTSSSDPI	LDFNISLAMA	KERAHQKRSS	KRAPQMDWSK	KNELFSNL