AiPD: Autoinhibited Protein Database

Q6ZMG9

Gene name	CERS6
Protein name	Ceramide synthase 6
Names	CerS6, LAG1 longevity assurance homolog 6, Sphingoid base N-palmitoyltransferase CERS6
Species	Homo sapiens (Human)
KEGG Pathway	hsa:253782
EC number	2.3.1.291: Transferring groups other than amino-acyl groups
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

307-384 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

307-384 (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 Q6ZMG9

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q6ZMG9-F1	Predicted				AlphaFoldDB

287 variants for Q6ZMG9

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1176257777 CA349254816	4	I>F		No	ClinGen gnomAD
CA1949318 rs762210438	4	I>M		No	ClinGen ExAC gnomAD
rs200686343 CA1949317	4	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs749869350 CA1949320	5	L>F		No	ClinGen ExAC gnomAD
rs764866341 CA1949319	5	L>S		No	ClinGen ExAC gnomAD
CA60501051 rs4496303	6	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1949321 rs4496303	6	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1949322 rs200086348	6	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1949323 rs751172925	7	W>S		No	ClinGen ExAC gnomAD
CA349254852 rs1260414039	10	N>D		No	ClinGen gnomAD
CA60501053 CA1949325 rs780908134	10	N>K		No	ClinGen ExAC TOPMed gnomAD
CA1949324 rs754773175	10	N>T		No	ClinGen ExAC gnomAD
TCGA novel	11	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA60501054 rs567737803	13	F>Y		No	ClinGen 1000Genomes
rs1558955545 CA349254899	16	P>L		No	ClinGen Ensembl
rs748143834 CA1949326	17	H>R		No	ClinGen ExAC TOPMed gnomAD
CA349254908 rs1224345601	18	N>D		No	ClinGen TOPMed
rs769616429 CA1949327	18	N>S		No	ClinGen ExAC TOPMed gnomAD
rs779093085 CA1949328	22	A>T		No	ClinGen ExAC gnomAD
CA349254940 rs1337786119	23	D>N		No	ClinGen gnomAD
rs1304659568 CA349254959	25	K>N		No	ClinGen gnomAD
CA60501055 rs759272935	26	N>K		No	ClinGen Ensembl
CA349254970 rs1341419578	27	T>S		No	ClinGen TOPMed
TCGA novel	28	E>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs767132645 CA60501057	30	A>T		No	ClinGen Ensembl
rs775890104 CA1949331	31	T>I		No	ClinGen ExAC TOPMed gnomAD
CA349255038 rs1241889470	37	D>N		No	ClinGen gnomAD
rs958381433 CA60501059	37	D>V		No	ClinGen TOPMed
COSM325664 CA349255045 rs1374406492	38	L>F	lung [Cosmic]	No	ClinGen cosmic curated TOPMed
CA1949334 rs777128267	40	L>F		No	ClinGen ExAC TOPMed gnomAD
CA1949337 rs750893093	41	A>S		No	ClinGen ExAC gnomAD
rs765808917 CA1949339	43	P>S		No	ClinGen ExAC gnomAD
rs1178388235 CA349255102	47	C>F		No	ClinGen gnomAD
CA349255113 rs1357451276	48	I>M		No	ClinGen gnomAD
rs1185459083 CA349255108	48	I>V		No	ClinGen TOPMed
rs1452591471 CA349255118	49	F>S		No	ClinGen gnomAD
rs1336375823 CA349255126	50	M>T		No	ClinGen TOPMed gnomAD
CA1949341 rs201966307	54	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA349255163 rs1279304225	56	E>Q		No	ClinGen TOPMed gnomAD
rs780317964 CA349257257	57	R>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	58	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA60511022 rs375463814	58	F>Y		No	ClinGen ESP TOPMed
CA1949371 rs368387733	59	V>I		No	ClinGen ESP ExAC gnomAD
CA1949373 rs755059125	61	K>E		No	ClinGen ExAC TOPMed gnomAD
rs755059125 CA1949372	61	K>Q		No	ClinGen ExAC TOPMed gnomAD
CA1949374 rs748335508	61	K>R		No	ClinGen ExAC TOPMed gnomAD
CA1949377 rs146638314	62	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1949376 rs146638314	62	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1949375 rs770067995	62	P>S		No	ClinGen ExAC TOPMed gnomAD
rs755919514 CA1949380 COSM312460	64	A>T	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs766977442 CA349257347	67	L>F		No	ClinGen ExAC TOPMed gnomAD
rs766977442 CA1949381	67	L>V		No	ClinGen ExAC TOPMed gnomAD
CA1949382 rs775014368	69	I>V		No	ClinGen ExAC gnomAD
CA1949383 rs372014490 COSM3407026	72	N>S	central_nervous_system Variant assessed as Somatic; 4.619e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA349257424 rs1192540806	74	P>L		No	ClinGen gnomAD
rs763858278 CA60511023	75	Q>L		No	ClinGen ExAC gnomAD
rs763858278 CA1949384	75	Q>R		No	ClinGen ExAC gnomAD
TCGA novel	77	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs200179823 CA1949385	78	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	78	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA60511025 rs1043640878	79	P>R		No	ClinGen gnomAD
CA1949387 rs765286315	79	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1361913558 CA349257471	80	N>D		No	ClinGen gnomAD
rs143510081 CA1949388	80	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA1949389 rs755112390	82	I>V		No	ClinGen ExAC gnomAD
rs781274269 CA1949390	84	E>G		No	ClinGen ExAC gnomAD
TCGA novel	85	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1241162940 CA349257554	88	T>N		No	ClinGen gnomAD
rs1347133687 CA349255193	93	H>R		No	ClinGen gnomAD
rs1202343175 CA349255206	95	D>A		No	ClinGen gnomAD
CA349255211 rs1458604732	96	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1180951479 CA349255231	98	R>K		No	ClinGen gnomAD
CA1949403 rs761730340	99	L>F		No	ClinGen ExAC gnomAD
rs1574066706 CA349255245	100	E>G		No	ClinGen Ensembl
CA1949404 rs765057450	101	G>A		No	ClinGen ExAC gnomAD
CA349255252 rs765057450	101	G>V		No	ClinGen ExAC gnomAD
rs1558998572 CA349255266	104	K>E		No	ClinGen Ensembl
CA349255305 rs1295307989	109	D>N		No	ClinGen TOPMed
rs1173624557 CA349255318	111	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA1949407 rs141128121	111	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA349255322 rs1349478009	112	S>G		No	ClinGen TOPMed
rs912026539 CA60512509	112	S>N		No	ClinGen Ensembl
CA1949408 rs752792437	112	S>R		No	ClinGen ExAC gnomAD
CA1949409 rs756341540	115	R>C		No	ClinGen ExAC TOPMed gnomAD
rs778081351 CA1949410	115	R>H		No	ClinGen ExAC gnomAD
rs1431915360 CA349255352	116	W>*		No	ClinGen TOPMed
CA1949411 rs368138259	118	R>*		No	ClinGen ESP ExAC gnomAD
CA349255363 rs368138259	118	R>G		No	ClinGen ESP ExAC gnomAD
CA1949412 rs757626907	118	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA1949413 rs138982215	119	Q>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA60512510 rs961924691	119	Q>R		No	ClinGen TOPMed gnomAD
CA1949415 rs187342645 COSM1213123	121	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA1949416 rs779475869	121	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA1949418 rs768009413	122	N>K		No	ClinGen ExAC TOPMed gnomAD
rs746548982 CA1949417	122	N>S		No	ClinGen ExAC TOPMed gnomAD
CA60512511 rs374976492	127	S>G		No	ClinGen ESP TOPMed gnomAD
rs369699507 CA1949420	128	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA1949424 rs763042459	130	T>A		No	ClinGen ExAC gnomAD
CA1949426 rs766320076	130	T>K		No	ClinGen ExAC TOPMed gnomAD
CA1949425 rs766320076	130	T>M		No	ClinGen ExAC TOPMed gnomAD
CA349255439 rs1367733707	131	R>G		No	ClinGen gnomAD
rs375149776 CA1949428	135	S>G		No	ClinGen ESP ExAC gnomAD
rs757461077 CA1949430	136	M>T		No	ClinGen ExAC gnomAD
CA1949429 rs754075843	136	M>V		No	ClinGen ExAC gnomAD
rs773991279 CA1949466	137	W>*		No	ClinGen ExAC gnomAD
rs1467012286 CA349255516	139	F>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA1949468 rs771988532	143	L>F		No	ClinGen ExAC TOPMed gnomAD
CA349255543 rs1452453975	143	L>H		No	ClinGen gnomAD
rs1373671238 CA349255549	144	Y>S		No	ClinGen gnomAD
rs775351309 CA1949469	146	F>L		No	ClinGen ExAC TOPMed gnomAD
CA349255588 rs1411210527	149	G>A		No	ClinGen TOPMed
CA349255583 rs1398711568	149	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA60520387 rs990590208	150	V>I		No	ClinGen Ensembl
CA349255618 rs1203736928	154	K>R		No	ClinGen gnomAD
CA60520390 rs1019548707	155	K>E		No	ClinGen TOPMed
TCGA novel	156	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1949488 rs34110122	157	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs199547593 COSM1691345 CA60527385	160	W>*	skin [Cosmic]	No	ClinGen cosmic curated 1000Genomes
CA1949490 rs780000319	160	W>G		No	ClinGen ExAC gnomAD
CA60527386 rs989647573	161	N>S		No	ClinGen Ensembl
CA349255686 rs1427233857	162	T>M		No	ClinGen TOPMed gnomAD
rs1480398126 CA349255689	163	R>W		No	ClinGen gnomAD
CA1949492 rs769912063	164	H>D		No	ClinGen ExAC gnomAD
rs773136218 CA1949493	164	H>R		No	ClinGen ExAC TOPMed gnomAD
CA1949495 rs771044929	167	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA1949497 rs529854883	168	N>K		No	ClinGen 1000Genomes ExAC gnomAD
CA349255729 rs1304459960	168	N>S		No	ClinGen gnomAD
CA349255757 rs1222842765	172	Q>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs767951333 CA349255762	172	Q>H		No	ClinGen ExAC gnomAD
TCGA novel	172	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1949519 rs764526926	173	P>L		No	ClinGen ExAC gnomAD
CA1949520 rs777132896	175	T>I		No	ClinGen ExAC TOPMed gnomAD
rs367882854 CA1949521	176	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs764758352 CA1949522	176	T>S		No	ClinGen ExAC TOPMed gnomAD
rs148548835 CA1949523	178	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs1559055479 CA349255811	179	H>D		No	ClinGen Ensembl
rs1383048607 CA349255817	179	H>Q		No	ClinGen gnomAD
rs1457077489 CA349255822	180	Y>C		No	ClinGen gnomAD
rs1158666642 CA349255830	181	Y>C		No	ClinGen gnomAD
rs1301470749 CA349255827	181	Y>H		No	ClinGen TOPMed
rs1042177809 CA60527773	182	Y>H		No	ClinGen TOPMed
TCGA novel	182	Y>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1949524 rs758015644	183	I>N		No	ClinGen ExAC gnomAD
CA349255845 rs758015644	183	I>T		No	ClinGen ExAC gnomAD
rs1160725235 CA349255843	183	I>V		No	ClinGen TOPMed
TCGA novel	184	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA60527775 rs934774879	185	E>K		No	ClinGen TOPMed
TCGA novel	188	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	189	Y>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA349255879 rs1312616306	189	Y>H		No	ClinGen gnomAD
CA1949528 rs371715367	191	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA1949529 rs371715367	191	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA349255910 rs1239979659	193	M>T		No	ClinGen gnomAD
TCGA novel	194	F>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1348559929 CA349255950	198	T>I		No	ClinGen gnomAD
TCGA novel	199	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs779025823 CA349255964	200	I>M		No	ClinGen ExAC TOPMed gnomAD
rs1264379630 CA349255961	200	I>N		No	ClinGen TOPMed gnomAD
rs757305443 CA1949530	200	I>V		No	ClinGen ExAC gnomAD
rs1202230726 CA349255965	201	K>Q		No	ClinGen TOPMed gnomAD
CA349255973 rs1352323720	202	R>G		No	ClinGen TOPMed
rs1422915386 CA349255978	202	R>S		No	ClinGen gnomAD
rs746130855 CA1949532	202	R>T		No	ClinGen ExAC gnomAD
TCGA novel	205	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1376988752 CA349256861	206	G>V		No	ClinGen TOPMed gnomAD
CA1949555 rs747182302	207	I>V		No	ClinGen ExAC gnomAD
CA349256959 rs1303873088	213	L>V		No	ClinGen TOPMed gnomAD
TCGA novel	215	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA349256990 rs1347402652	216	I>L		No	ClinGen TOPMed gnomAD
CA60529958 rs368211276	216	I>T		No	ClinGen Ensembl
CA349256992 rs1347402652	216	I>V		No	ClinGen TOPMed gnomAD
rs1403655264 CA349257051	220	T>I		No	ClinGen TOPMed gnomAD
CA349257050 rs1403655264	220	T>S		No	ClinGen TOPMed gnomAD
TCGA novel	222	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1949557 rs781591758	225	N>D		No	ClinGen ExAC gnomAD
rs770321860 CA349257084 CA349257085	225	N>K		No	ClinGen ExAC TOPMed gnomAD
rs754814456 CA1949558	225	N>S		No	ClinGen ExAC TOPMed gnomAD
rs781249433 CA60529959	227	M>T		No	ClinGen Ensembl
CA1949560 rs773651193 COSM1528847	228	A>T	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA349257109 rs780954291	229	R>L		No	ClinGen ExAC TOPMed gnomAD
rs780954291 CA1949562	229	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA1949563 rs774014075	230	V>I		No	ClinGen ExAC gnomAD
CA1949564 rs759203411	232	T>A		No	ClinGen ExAC gnomAD
rs1462178134 CA349257126	232	T>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1050247899 CA60529960	235	L>R		No	ClinGen Ensembl
rs764137443 CA349257147	236	C>F		No	ClinGen ExAC TOPMed gnomAD
rs764137443 CA1949568	236	C>Y		No	ClinGen ExAC TOPMed gnomAD
CA1949569 RCV000961979 rs116510340	237	L>V		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1367671089 CA349257171	240	S>T		No	ClinGen gnomAD
rs758577445 CA1949570	241	A>P		No	ClinGen ExAC gnomAD
rs1553512220 CA349257181	241	A>V		No	ClinGen Ensembl
rs751771710 CA1949572	244	L>H		No	ClinGen ExAC gnomAD
CA1949571 rs780260977	244	L>V		No	ClinGen ExAC gnomAD
rs1217296963 CA349257229	247	A>S		No	ClinGen gnomAD
CA1949590 rs751648205	248	A>P		No	ClinGen ExAC gnomAD
rs754954760 CA1949591	251	A>V		No	ClinGen ExAC gnomAD
CA349257283 rs1198227129	252	N>H		No	ClinGen Ensembl
TCGA novel	254	A>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs781481701 CA1949592	254	A>D		No	ClinGen ExAC TOPMed gnomAD
CA349257324 rs781481701	254	A>G		No	ClinGen ExAC TOPMed gnomAD
CA349257327 rs781481701	254	A>V		No	ClinGen ExAC TOPMed gnomAD
CA349257351 rs756493111	255	K>N		No	ClinGen ExAC TOPMed gnomAD
CA1949595 rs778086577	256	F>L		No	ClinGen ExAC gnomAD
TCGA novel	257	Q>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA349257395 rs1156972782	257	Q>H		No	ClinGen gnomAD
CA349257388 rs376524029	257	Q>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed gnomAD
CA60530211 rs376524029	257	Q>P		No	ClinGen ESP TOPMed gnomAD
rs749833625 CA1949596	259	M>T		No	ClinGen ExAC gnomAD
CA60530212 rs1055079632	259	M>V		No	ClinGen TOPMed
CA1949597 rs757753807	260	C>R		No	ClinGen ExAC gnomAD
rs1404287001 CA349257532	264	F>L		No	ClinGen gnomAD
CA349257571 rs1373605971	266	M>I		No	ClinGen gnomAD
CA349257561 rs149085643	266	M>L		No	ClinGen ESP ExAC gnomAD
CA60530214 rs201966534	266	M>T		No	ClinGen TOPMed gnomAD
CA1949598 rs149085643	266	M>V		No	ClinGen ESP ExAC gnomAD
CA349257609 rs1225015319	268	A>G		No	ClinGen TOPMed gnomAD
rs1225015319 CA349257610	268	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA1949600 rs373359187	269	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA1949601 rs775234472	270	V>I		No	ClinGen ExAC gnomAD
CA1949602 rs371131545	273	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA1949604 rs776566248	275	R>*		No	ClinGen ExAC TOPMed gnomAD
rs761901891 CA1949605	278	I>V		No	ClinGen ExAC gnomAD
CA349257676 rs1175581437	280	P>T		No	ClinGen gnomAD
rs772956519 CA1949607	281	L>V		No	ClinGen ExAC gnomAD
CA349256002 rs1274279715	282	W>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA349256007 rs1360403489	283	V>L		No	ClinGen gnomAD
CA349256022 rs1224885093	285	N>S		No	ClinGen gnomAD
CA349256030 rs750984323	286	T>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs750984323 CA1949633	286	T>S		No	ClinGen ExAC TOPMed gnomAD
rs1451539285 CA349256064	291	S>T		No	ClinGen TOPMed gnomAD
CA349256069 rs1217054410	292	W>R		No	ClinGen gnomAD
CA60535958 rs533838833	294	I>M		No	ClinGen gnomAD
rs758828764 CA349256092	295	V>F		No	ClinGen ExAC TOPMed gnomAD
CA1949634 rs758828764	295	V>I		No	ClinGen ExAC TOPMed gnomAD
CA1949636 rs751129672	297	P>R		No	ClinGen ExAC gnomAD
rs768146878 CA1949637	298	Y>H		No	ClinGen ExAC gnomAD
rs781023294 CA1949638	299	P>L		No	ClinGen ExAC TOPMed gnomAD
rs781023294 CA1949639	299	P>R		No	ClinGen ExAC TOPMed gnomAD
CA1949642 rs749312970	303	V>I		No	ClinGen ExAC gnomAD
rs770756910 CA1949643	305	N>S		No	ClinGen ExAC gnomAD
CA1949644 rs770756910	305	N>T		No	ClinGen ExAC gnomAD
CA1949646 rs768678854	306	L>P		No	ClinGen ExAC gnomAD
rs760743744 CA349256161	306	L>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	308	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA60535959 rs902596266	310	L>Q		No	ClinGen Ensembl
CA1949649 rs761996415	311	V>A		No	ClinGen ExAC gnomAD
rs374085466 CA60535960	312	Q>H		No	ClinGen ESP TOPMed
rs765701588 CA1949650	313	G>V		No	ClinGen ExAC gnomAD
rs1029584108 CA60535962	320	Y>F		No	ClinGen TOPMed
rs750742526 CA1949651	328	K>N		No	ClinGen ExAC gnomAD
rs1553517491 CA349256328	331	S>*		No	ClinGen Ensembl
rs1244087916 CA349256325	331	S>A		No	ClinGen TOPMed gnomAD
CA349256346 rs1227412298	334	K>M		No	ClinGen TOPMed
rs1287464217 CA349256469	340	R>G		No	ClinGen TOPMed
rs772096732 CA1949688 COSM1009074	340	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs147015284 CA1949690	342	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA1949692 rs749506102	343	I>T		No	ClinGen ExAC TOPMed gnomAD
CA1949691 rs773331109	343	I>V		No	ClinGen ExAC gnomAD
TCGA novel	344	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1949693 rs771460989	345	S>T		No	ClinGen ExAC gnomAD
CA349256510 rs1339218277	346	S>T		No	ClinGen TOPMed
CA349256515 rs1385558972	347	S>A		No	ClinGen TOPMed gnomAD
CA349256524 rs1301030067	348	D>G		No	ClinGen gnomAD
rs1230062061 CA349256541	350	E>G		No	ClinGen gnomAD
rs774849482 CA1949694	350	E>Q		No	ClinGen ExAC gnomAD
CA349256549 rs1406018955	351	D>G		No	ClinGen TOPMed
CA349256565 rs1574233611	353	E>D		No	ClinGen Ensembl
CA60536360 rs982340851	354	P>L		No	ClinGen TOPMed gnomAD
rs199916442 CA1949696	355	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1207929830 CA349256607	360	H>Y		No	ClinGen gnomAD
rs753478893 CA1949700	362	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA349256631 rs1449042273	364	T>A		No	ClinGen gnomAD
CA1949702 rs535039602	365	T>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1949703 rs201175362	366	N>S		No	ClinGen ExAC TOPMed gnomAD
CA60536361 rs1015138015	368	T>I		No	ClinGen Ensembl
rs1456441286 CA349256674	371	T>A		No	ClinGen gnomAD
CA1949705 rs372041111	372	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA1949708 rs201799372	374	Y>C		No	ClinGen 1000Genomes ExAC gnomAD
rs369260392 CA1949709	378	G>C		No	ClinGen ESP ExAC TOPMed
CA349256726 rs1559087464	379	S>F		No	ClinGen Ensembl
CA349256728 rs1224728670	380	C>R		No	ClinGen TOPMed
rs866198654 CA60536363	380	C>Y		No	ClinGen gnomAD
rs771262751 CA1949711	381	S>C		No	ClinGen ExAC gnomAD
rs774657184 CA1949712	382	M>V		No	ClinGen ExAC gnomAD
rs746238053 CA1949713	383	D>G		No	ClinGen ExAC TOPMed gnomAD
CA349256749 rs1241977638	383	D>Y		No	ClinGen gnomAD
CA1949714 rs772522040	384	D>G		No	ClinGen ExAC gnomAD

No associated diseases with Q6ZMG9

2 regional properties for Q6ZMG9

Type	Name	Position	InterPro Accession
domain	Homeobox domain	80 - 127	IPR001356
domain	TRAM/LAG1/CLN8 homology domain	130 - 331	IPR006634

Functions

		Description
EC Number	2.3.1.291	Transferring groups other than amino-acyl groups
Subcellular Localization	Endoplasmic reticulum membrane ; Multi-pass membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

4 GO annotations of cellular component

Name	Definition
endoplasmic reticulum	The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached).
endoplasmic reticulum membrane	The lipid bilayer surrounding the endoplasmic reticulum.
integral component of membrane	The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.

3 GO annotations of molecular function

Name	Definition
DNA binding	Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid).
N-acyltransferase activity	Catalysis of the transfer of an acyl group to a nitrogen atom on the acceptor molecule.
sphingosine N-acyltransferase activity	Catalysis of the reaction: acyl-CoA + sphingosine = CoA + N-acylsphingosine.

3 GO annotations of biological process

Name	Definition
ceramide biosynthetic process	The chemical reactions and pathways resulting in the formation of ceramides, any N-acylated sphingoid.
inflammatory response	The immediate defensive reaction (by vertebrate tissue) to infection or injury caused by chemical or physical agents. The process is characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages.
sphingolipid biosynthetic process	The chemical reactions and pathways resulting in the formation of sphingolipids, any of a class of lipids containing the long-chain amine diol sphingosine or a closely related base (a sphingoid).

12 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P38703	LAG1	Ceramide synthase LAG1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast)	PR
Q3ZBF8	CERS2	Ceramide synthase 2	Bos taurus (Bovine)	PR
Q5E9R6	CERS4	Ceramide synthase 4	Bos taurus (Bovine)	PR
Q8IU89	CERS3	Ceramide synthase 3	Homo sapiens (Human)	PR
Q96G23	CERS2	Ceramide synthase 2	Homo sapiens (Human)	PR
Q8N5B7	CERS5	Ceramide synthase 5	Homo sapiens (Human)	PR
Q9D6J1	Cers4	Ceramide synthase 4	Mus musculus (Mouse)	PR
Q924Z4	Cers2	Ceramide synthase 2	Mus musculus (Mouse)	PR
Q9D6K9	Cers5	Ceramide synthase 5	Mus musculus (Mouse)	PR
Q8C172	Cers6	Ceramide synthase 6	Mus musculus (Mouse)	PR
Q6YWS8	Os02g0728300	ASC1-like protein 2	Oryza sativa subsp japonica (Rice)	PR
G5ED45	hyl-1	Ceramide synthase hyl-1	Caenorhabditis elegans	PR

10	20	30	40	50	60
MAGILAWFWN	ERFWLPHNVT	WADLKNTEEA	TFPQAEDLYL	AFPLAFCIFM	VRLIFERFVA
70	80	90	100	110	120
KPCAIALNIQ	ANGPQIAPPN	AILEKVFTAI	TKHPDEKRLE	GLSKQLDWDV	RSIQRWFRQR
130	140	150	160	170	180
RNQEKPSTLT	RFCESMWRFS	FYLYVFTYGV	RFLKKTPWLW	NTRHCWYNYP	YQPLTTDLHY
190	200	210	220	230	240
YYILELSFYW	SLMFSQFTDI	KRKDFGIMFL	HHLVSIFLIT	FSYVNNMARV	GTLVLCLHDS
250	260	270	280	290	300
ADALLEAAKM	ANYAKFQKMC	DLLFVMFAVV	FITTRLGIFP	LWVLNTTLFE	SWEIVGPYPS
310	320	330	340	350	360
WWVFNLLLLL	VQGLNCFWSY	LIVKIACKAV	SRGKVSKDDR	SDIESSSDEE	DSEPPGKNPH
370	380
TATTTNGTSG	TNGYLLTGSC	SMDD