AiPD: Autoinhibited Protein Database

P57076

Gene name	CFAP298
Protein name	Cilia- and flagella-associated protein 298
Names	Protein kurly homolog
Species	Homo sapiens (Human)
KEGG Pathway	hsa:56683
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

65-290 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

65-290 (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 P57076

Entry ID	Method	Resolution	Chain	Position	Source
AF-P57076-F1	Predicted				AlphaFoldDB

245 variants for P57076

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1389962473 CA410076266 RCV001728056	54	H>Y	Primary ciliary dyskinesia 26 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA10002861 VAR_070201 rs140727644 RCV000629295	141	D>G	CILD26; unknown pathological significance; hypomorphic mutation [UniProt]	Yes	ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD
rs746361802 RCV002528828 RCV001078454	190	Q>missing	Primary ciliary dyskinesia 26 [ClinVar]	Yes	ClinVar dbSNP
rs2038760864 RCV001078453	241	Q>*	Primary ciliary dyskinesia 26 [ClinVar]	Yes	ClinVar dbSNP
RCV000074371 CA346951 RCV001386656 rs202094637	245	Y>*	Primary ciliary dyskinesia 26 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000074373 rs398122401	263	A>*	Primary ciliary dyskinesia 26 [ClinVar]	Yes	ClinVar dbSNP
rs1481007321 CA410076859	3	L>V		No	ClinGen gnomAD
rs923453820 CA319434320	5	H>Q		No	ClinGen Ensembl
CA410076843 CA10002999 rs757272660	6	V>L		No	ClinGen ExAC TOPMed gnomAD
CA10002998 rs757272660	6	V>M		No	ClinGen ExAC TOPMed gnomAD
rs753621839 CA10002997	7	K>*		No	ClinGen ExAC gnomAD
rs998845412 RCV001037792 CA319434301	7	K>N		No	ClinGen ClinVar TOPMed dbSNP gnomAD
CA319434308 rs1033515702	7	K>R		No	ClinGen TOPMed
CA410076829 rs1215082978	9	G>S		No	ClinGen gnomAD
rs1281070498 CA410076817	10	D>E		No	ClinGen gnomAD
rs11538142 CA319434275	10	D>G		No	ClinGen TOPMed
rs201328420 CA10002995	11	E>K		No	ClinGen ExAC TOPMed gnomAD
CA10002993 rs767547498	13	Q>L		No	ClinGen ExAC gnomAD
rs759504544 CA319434237 CA10002992	14	F>L		No	ClinGen ExAC TOPMed gnomAD
rs771329128 CA410076777	17	Q>*		No	ClinGen ExAC gnomAD
rs771329128 CA10002990	17	Q>E		No	ClinGen ExAC gnomAD
rs763588392 CA10002989	18	A>V		No	ClinGen ExAC gnomAD
rs773647651 CA10002988	19	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1469978933 CA410076751	21	S>N		No	ClinGen gnomAD
CA10002984 RCV001345567 rs771803570	24	L>V		No	ClinGen ClinVar ExAC dbSNP gnomAD
CA410076729 rs1479102922	25	E>K		No	ClinGen gnomAD
CA10002982 rs778547489 COSM1616005	26	E>*	liver [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs138178722 CA10002981 RCV000229184	26	E>A		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1601169598 CA410076714	27	L>V		No	ClinGen Ensembl
rs1239259495 CA410076707	28	T>A		No	ClinGen gnomAD
CA410076702 rs1323042966	29	V>L		No	ClinGen gnomAD
rs1402559556 CA410076694	30	Q>*		No	ClinGen gnomAD
rs1601169547 CA410076684	31	V>G		No	ClinGen Ensembl
rs1032119758 CA410076688 CA319434177	31	V>L		No	ClinGen gnomAD
rs1221402448 CA410076680	32	A>V		No	ClinGen TOPMed gnomAD
rs753786167 VAR_070200 RCV001324440 CA10002980	33	R>W		No	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
rs1601169504 CA410076668	34	V>G		No	ClinGen Ensembl
CA410076671 rs1165758377	34	V>I		No	ClinGen TOPMed
RCV001308601 CA410076663 rs1296295200	35	Y>C		No	ClinGen ClinVar dbSNP gnomAD
rs1304051762 CA410076643 RCV001343357	38	R>P		No	ClinGen ClinVar TOPMed dbSNP gnomAD
CA410076641 rs1304051762	38	R>Q		No	ClinGen TOPMed gnomAD
CA319434111 rs980506278	40	K>N		No	ClinGen Ensembl
rs1601169405 CA410076623	41	V>G		No	ClinGen Ensembl
CA10002978 rs202129824	41	V>M		No	ClinGen 1000Genomes ExAC gnomAD
CA410076604 rs1404841720	44	L>P		No	ClinGen gnomAD
rs1036535345 CA319434092	45	C>G		No	ClinGen TOPMed
COSM3963914 rs755093345 CA10002958	48	M>V	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs766323336 CA10002955	51	L>F		No	ClinGen ExAC gnomAD
rs999085167 CA319431772	52	A>V		No	ClinGen Ensembl
rs765823366 CA10002952	53	E>D		No	ClinGen ExAC gnomAD
rs750577375 CA10002953	53	E>K		No	ClinGen ExAC gnomAD
rs143039524 CA10002951	54	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA410076253 rs1338618507	55	G>A		No	ClinGen TOPMed
CA10002950 rs199853806	57	F>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs2038953746 RCV001339807	58	L>missing		No	ClinVar dbSNP
rs759060499 CA10002948	60	P>L		No	ClinGen ExAC gnomAD
rs1363835589 CA410076210	60	P>S		No	ClinGen gnomAD
rs1165433973 CA410076200	61	N>T		No	ClinGen Ensembl
CA410076175 rs774082809 CA10002947	62	M>I		No	ClinGen ExAC gnomAD
CA410076182 rs1601164515	62	M>K		No	ClinGen Ensembl
CA410076166 rs1363383042	63	Q>R		No	ClinGen gnomAD
rs368599489 CA319431718	64	G>R		No	ClinGen Ensembl
CA10002946 rs779235313	66	T>I		No	ClinGen ExAC TOPMed gnomAD
CA10002943 rs769719774	67	D>G		No	ClinGen ExAC TOPMed gnomAD
CA10002944 rs76974938 RCV001346196	67	D>N		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA10002941 rs568749302	76	K>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs747161389 CA10002939	80	G>D		No	ClinGen ExAC TOPMed gnomAD
CA10002940 rs754827987	80	G>S		No	ClinGen ExAC TOPMed gnomAD
CA10002938 rs780294574	82	K>I		No	ClinGen ExAC gnomAD
CA10002937 rs758749024 RCV001327124	83	C>S		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs755185617 CA10002936	83	C>W		No	ClinGen ExAC TOPMed gnomAD
rs878855068 CA10583881 COSM1413785	84	V>I	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
CA410075889 rs1391050240	85	P>A		No	ClinGen TOPMed
rs765408859 CA10002935	85	P>L		No	ClinGen ExAC gnomAD
rs754390813 CA10002933	87	G>R		No	ClinGen ExAC TOPMed gnomAD
CA410075848 rs1325797419	89	A>S		No	ClinGen TOPMed
CA10002932 rs764324895	90	V>A		No	ClinGen ExAC gnomAD
rs1181863916 CA410075801	93	K>E		No	ClinGen gnomAD
CA319431569 rs952879996	94	D>G		No	ClinGen Ensembl
rs1568997025 CA410075780	95	D>N		No	ClinGen Ensembl
CA10002930 rs775768955	96	I>T		No	ClinGen ExAC TOPMed gnomAD
CA410075762 rs1323581636	96	I>V		No	ClinGen TOPMed
rs143740376 CA021253	98	R>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10002929 rs762660612	98	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs772643740 CA10002928	99	R>S		No	ClinGen ExAC TOPMed gnomAD
rs769310705 CA410075690	100	N>K		No	ClinGen ExAC TOPMed gnomAD
rs1266602873 CA410075680	101	G>E		No	ClinGen gnomAD
CA10002926 rs761611313	102	Q>R		No	ClinGen ExAC gnomAD
CA10002924 rs768518723	103	A>P		No	ClinGen ExAC gnomAD
CA319424587 rs775624139	105	N>K		No	ClinGen TOPMed gnomAD
CA410075123 rs1257244517	107	K>E		No	ClinGen TOPMed
rs1305579944 CA410075115	107	K>R		No	ClinGen TOPMed
CA10002904 rs11538144	108	M>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA319424580 rs11538144	108	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs369481919 CA10002903	110	Q>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA319424572 rs989689505	112	L>I		No	ClinGen Ensembl
CA10002902 rs746046767	114	K>T		No	ClinGen ExAC gnomAD
CA410074958 rs1330594485	115	T>A		No	ClinGen gnomAD
CA10002901 rs779245134	116	I>T		No	ClinGen ExAC TOPMed gnomAD
rs370314274 CA319424567	116	I>V		No	ClinGen TOPMed
CA10002900 rs771106055	118	E>G		No	ClinGen ExAC gnomAD
CA410074898 rs1166184364	119	A>T		No	ClinGen gnomAD
rs1446004707 CA410074865	121	A>G		No	ClinGen gnomAD
rs1568995230 CA410074861	122	I>V		No	ClinGen Ensembl
CA410074841 rs1471581311	123	I>M		No	ClinGen gnomAD
CA10002898 COSM1632454 rs749373260	124	S>C	liver [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA10002866 rs753450366	130	A>S		No	ClinGen ExAC gnomAD
RCV001306121 CA10002864 rs142517552	131	G>S		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1348828274 CA410074666	131	G>V		No	ClinGen TOPMed
CA10002863 rs752304837	132	V>G		No	ClinGen ExAC gnomAD
CA410074648 rs1242757147	133	C>F		No	ClinGen gnomAD
CA319423008 rs372266953	135	T>I		No	ClinGen Ensembl
rs1463669757 CA410074625	136	M>T		No	ClinGen TOPMed gnomAD
CA319423004 rs1009278831	136	M>V		No	ClinGen TOPMed gnomAD
rs1266019769 CA410074602	138	M>L		No	ClinGen gnomAD
rs1225044907 CA410074593	139	V>M		No	ClinGen TOPMed gnomAD
CA410074577 rs1219172973	140	K>R		No	ClinGen gnomAD
rs1286833455 CA410074531	144	D>G		No	ClinGen TOPMed
rs1217385253 CA410074500	147	R>*		No	ClinGen gnomAD
CA410074498 rs890462788	147	R>L		No	ClinGen TOPMed gnomAD
rs890462788 CA319422999	147	R>Q		No	ClinGen TOPMed gnomAD
CA10002859 rs187406612	148	G>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10002857 RCV001345441 rs367724246	149	A>T		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA10002856 rs200412130	149	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1429016052 CA410074457	151	M>I		No	ClinGen gnomAD
CA10002855 RCV001339718 rs748207131	153	V>I		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs776752785 CA10002854	154	Y>*		No	ClinGen ExAC gnomAD
CA319422988 rs868801620	155	P>H		No	ClinGen TOPMed gnomAD
CA319422986 rs868801620	155	P>L		No	ClinGen TOPMed gnomAD
CA410074421 rs868801620	155	P>R		No	ClinGen TOPMed gnomAD
rs769081585 CA10002853	156	M>L		No	ClinGen ExAC gnomAD
rs747524778 CA10002852	157	G>E		No	ClinGen ExAC gnomAD
CA10002850 RCV001230398 rs758717431	160	P>L		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs370133889 CA10002848	165	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA10002847 rs761867633	165	R>H		No	ClinGen ExAC TOPMed gnomAD
CA319422976 rs761867633	165	R>L		No	ClinGen ExAC TOPMed gnomAD
rs752249690 CA10002846	166	M>T		No	ClinGen ExAC gnomAD
CA410074315 rs1601152980	166	M>V		No	ClinGen Ensembl
CA10002845 rs767141452	167	E>Q		No	ClinGen ExAC gnomAD
rs754907051 CA10002844	168	F>L		No	ClinGen ExAC gnomAD
rs200604137 CA319422965	170	N>Y		No	ClinGen Ensembl
rs1357789875 CA410074244	172	E>*		No	ClinGen TOPMed
CA10002843 VAR_070202 rs540473945	173	D>Y		No	ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
rs146867345 CA10002842	175	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1316788722 CA410074204	175	S>T		No	ClinGen gnomAD
rs1222493098 CA410073703	182	N>D		No	ClinGen gnomAD
CA410073704 rs1222493098	182	N>H		No	ClinGen gnomAD
rs775695128 CA10002816	182	N>S		No	ClinGen ExAC gnomAD
rs373153603 CA319422665	183	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
RCV001067507 rs373153603 CA10002814	183	V>L		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs368958300 CA10002813	184	I>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1301480837 CA410073682	184	I>T		No	ClinGen TOPMed
CA10002812 rs368958300	184	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1601151218 CA410073666	185	K>N		No	ClinGen Ensembl
CA10002810 rs768474710	189	A>E		No	ClinGen ExAC TOPMed gnomAD
CA10002809 rs768474710	189	A>V		No	ClinGen ExAC TOPMed gnomAD
CA10002805 rs180815065	190	Q>P		No	ClinGen 1000Genomes ExAC gnomAD
CA10002804 rs552438152	192	W>C		No	ClinGen 1000Genomes ExAC gnomAD
rs1342096414 CA410073574	193	W>R		No	ClinGen gnomAD
rs1208590655 CA410073548	195	A>V		No	ClinGen TOPMed
CA410073536 rs1240431831	196	K>M		No	ClinGen TOPMed
CA410073530 rs1489480775	197	E>K		No	ClinGen TOPMed
rs778634463 CA10002802	200	R>*		No	ClinGen ExAC TOPMed gnomAD
rs1431438796 CA410073494	200	R>K		No	ClinGen gnomAD
CA410073492 rs1431438796	200	R>T		No	ClinGen gnomAD
rs1457713494 CA410073484	201	T>M		No	ClinGen TOPMed
rs1457713494 CA410073485	201	T>R		No	ClinGen TOPMed
CA10002798 rs756422855	203	K>N		No	ClinGen ExAC gnomAD
CA10002799 rs764286279	203	K>Q		No	ClinGen ExAC gnomAD
rs1206558583 CA410073454	203	K>T		No	ClinGen TOPMed gnomAD
CA10002796 rs767648561	206	D>G		No	ClinGen ExAC gnomAD
CA410073411 rs1326097829	207	Y>C		No	ClinGen gnomAD
CA319422616 rs201397350	207	Y>N		No	ClinGen 1000Genomes
CA410073402 rs61735781	208	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10002794 RCV000227958 rs61735781	208	V>M		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA410073395 rs1290615120	209	G>R		No	ClinGen TOPMed
CA10002790 rs1228350373	211	N>D		No	ClinGen TOPMed
rs1383017456 CA410073354	212	E>A		No	ClinGen gnomAD
rs773772341 CA10002789	214	T>N		No	ClinGen ExAC gnomAD
CA10002788 rs768423355	216	I>T		No	ClinGen ExAC gnomAD
rs746682021 CA10002787	217	I>V		No	ClinGen ExAC gnomAD
CA10002785 rs771639961	218	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1222359244 CA410073282	219	K>R		No	ClinGen TOPMed
rs1375449786 CA410073272	220	I>V		No	ClinGen gnomAD
TCGA novel	223	R>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1568991068 CA410072934	224	G>E		No	ClinGen Ensembl
CA10002756 rs758921317	224	G>R		No	ClinGen ExAC gnomAD
CA10002755 rs750995181	225	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs374753522 CA10002754 RCV001052212	225	Q>R		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1235842780 CA410072901	227	A>T		No	ClinGen TOPMed
rs762213272 CA10002753	228	P>T		No	ClinGen ExAC gnomAD
CA10002751 RCV001234059 rs767192965	230	R>*		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs568437344 CA10002750	230	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA410072868 rs568437344	230	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA410072865 rs1360252472	231	E>K		No	ClinGen gnomAD
CA10002747 rs370327238	233	I>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
rs149703412 CA10002746	234	I>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs370677451 CA10002745	235	S>N		No	ClinGen ESP ExAC TOPMed
CA10002743 rs747963630	236	S>R		No	ClinGen ExAC gnomAD
CA10002744 rs769669889	236	S>T		No	ClinGen ExAC gnomAD
rs780919228 CA10002742	238	E>K		No	ClinGen ExAC gnomAD
CA410072760 rs1568990917	239	Q>*		No	ClinGen Ensembl
CA410072733 rs1426591766	241	Q>H		No	ClinGen TOPMed
rs149526723 CA10002740	243	M>I		No	ClinGen 1000Genomes ExAC gnomAD
rs761560756 CA10002737	245	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA410072638 rs1390232421	246	Y>C		No	ClinGen TOPMed
CA410072477 rs1472559592	251	E>G		No	ClinGen gnomAD
CA410072452 rs1184705870	252	E>D		No	ClinGen TOPMed gnomAD
rs1202221772 CA410072470	252	E>K		No	ClinGen gnomAD
CA410072459 rs1488871174	252	E>V		No	ClinGen gnomAD
rs267606106 CA319422034	255	R>K		No	ClinGen gnomAD
rs1241927576 CA410072023	260	D>E		No	ClinGen TOPMed
RCV001868167 rs150984638 CA10002706	260	D>Y		No	ClinGen ClinVar ESP TOPMed dbSNP
TCGA novel	261	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs764670280 CA10002705 RCV001326068	261	D>N		No	ClinGen ClinVar ExAC dbSNP gnomAD
CA410071947 rs1447847759	263	A>V		No	ClinGen gnomAD
rs1245971407 CA410071921	264	Y>F		No	ClinGen gnomAD
rs761764224 CA410071874	266	N>K		No	ClinGen ExAC TOPMed gnomAD
CA319422017 rs918483440	267	S>L		No	ClinGen Ensembl
rs532157103 CA10002702 RCV001067472	268	P>L		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs540636303 CA10002703	268	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs990901874 CA319422003	270	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA10002699 rs772351777	272	N>S		No	ClinGen ExAC gnomAD
CA319421991 rs112678969	273	T>S		No	ClinGen Ensembl
rs145897263 CA10002698	273	T>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1453546168 CA410071640	274	A>V		No	ClinGen TOPMed
rs2038749156 RCV001325643	277	R>missing		No	ClinVar dbSNP
CA10002697 rs774438173	277	R>G		No	ClinGen ExAC gnomAD
CA10002696 rs770946641	277	R>T		No	ClinGen ExAC gnomAD
CA410071553 rs1378889968	278	H>Y		No	ClinGen gnomAD
CA10002695 rs749424725 RCV001302198	279	F>L		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1444935581 CA410071520	279	F>L		No	ClinGen gnomAD
rs778231517 CA10002694	280	H>L		No	ClinGen ExAC TOPMed gnomAD
rs778231517 CA410071514	280	H>R		No	ClinGen ExAC TOPMed gnomAD
rs1362450175 CA410071490	282	V>A		No	ClinGen TOPMed
rs779048666 CA10002686	284	D>E		No	ClinGen ExAC gnomAD
RCV001218959 rs1165745783	285	I>missing		No	ClinVar dbSNP
CA10002691 rs781543468	285	I>M		No	ClinGen ExAC gnomAD
rs866971683 CA319421960	285	I>V		No	ClinGen Ensembl
rs145200240 CA10002690	286	K>N		No	ClinGen ESP ExAC gnomAD
CA410071256 rs1180068230 RCV001047686	287	W>*		No	ClinGen ClinVar dbSNP gnomAD
CA10002689 rs750069166	287	W>R		No	ClinGen ExAC gnomAD
CA10002688 RCV000689246 rs764768742	289	P>L		No	ClinGen ClinVar ExAC dbSNP gnomAD
rs1251911744 CA410071238	290	R>G		No	ClinGen gnomAD
CA10002687 rs756696272	291	R>S		No	ClinGen ExAC gnomAD

1 associated diseases with P57076

[MIM: 615500]: Ciliary dyskinesia, primary, 26 (CILD26)

A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Patients may exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. {ECO:0000269|PubMed:24094744}. Note=The disease is caused by variants affecting the gene represented in this entry. Cilia in nasal epithelia show the absence of both outer and inner dynein-arm components and complete paralysis.

Without disease ID

A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Patients may exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. {ECO:0000269|PubMed:24094744}. Note=The disease is caused by variants affecting the gene represented in this entry. Cilia in nasal epithelia show the absence of both outer and inner dynein-arm components and complete paralysis.

No regional properties for P57076

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for P57076

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm Cytoplasm, cytoskeleton, cilium basal body	Partially colocalized with SASS6 in cytoplasmic puncta, suggesting a centrosomal localization
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

4 GO annotations of cellular component

Name	Definition
cilium	A specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface and of some cytoplasmic parts. Each cilium is largely bounded by an extrusion of the cytoplasmic (plasma) membrane, and contains a regular longitudinal array of microtubules, anchored to a basal body.
cytoskeleton	A cellular structure that forms the internal framework of eukaryotic and prokaryotic cells. The cytoskeleton includes intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
nucleus	A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.

No GO annotations of molecular function

Name	Definition
No GO annotations for molecular function

2 GO annotations of biological process

Name	Definition
cilium assembly	The assembly 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.
regulation of cilium movement	Any process that modulates the rate, frequency, or extent of cilium movement, the directed, self-propelled movement of a cilium.

3 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q8BL95	Cfap298	Cilia- and flagella-associated protein 298	Mus musculus (Mouse)	PR
Q5U3Z0	Cfap298	Cilia- and flagella-associated protein 298	Rattus norvegicus (Rat)	PR
Q6DRC3	cfap298	Cilia- and flagella-associated protein 298	Danio rerio (Zebrafish) (Brachydanio rerio)	PR

10	20	30	40	50	60
MVLLHVKRGD	ESQFLLQAPG	STELEELTVQ	VARVYNGRLK	VQRLCSEMEE	LAEHGIFLPP
70	80	90	100	110	120
NMQGLTDDQI	EELKLKDEWG	EKCVPSGGAV	FKKDDIGRRN	GQAPNEKMKQ	VLKKTIEEAK
130	140	150	160	170	180
AIISKKQVEA	GVCVTMEMVK	DALDQLRGAV	MIVYPMGLPP	YDPIRMEFEN	KEDLSGTQAG
190	200	210	220	230	240
LNVIKEAEAQ	LWWAAKELRR	TKKLSDYVGK	NEKTKIIAKI	QQRGQGAPAR	EPIISSEEQK
250	260	270	280
QLMLYYHRRQ	EELKRLEEND	DDAYLNSPWA	DNTALKRHFH	GVKDIKWRPR