AiPD: Autoinhibited Protein Database

A8MT33

Gene name	SYCE1L
Protein name	Synaptonemal complex central element protein 1-like
Names	Meiosis-related protein
Species	Homo sapiens (Human)
KEGG Pathway	hsa:100130958
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-242 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-242 (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 A8MT33

Entry ID	Method	Resolution	Chain	Position	Source
AF-A8MT33-F1	Predicted				AlphaFoldDB

277 variants for A8MT33

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA396827984 rs1196059082	2	A>T		No	ClinGen gnomAD
rs369924114 CA8180150	2	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1168096720 CA396827992	3	G>R		No	ClinGen TOPMed gnomAD
rs988281089 CA284364474	4	K>E		No	ClinGen Ensembl
rs1046168724 CA284364488	5	L>Q		No	ClinGen TOPMed gnomAD
rs745591157 CA8180151	5	L>V		No	ClinGen ExAC gnomAD
rs899053487 CA284364508	6	K>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1462892430 CA396828048	7	P>L		No	ClinGen TOPMed gnomAD
rs112674196 CA8180153 RCV000972907 RCV000845248	8	L>V		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs1435895157 CA396828058	9	N>K		No	ClinGen gnomAD
CA8180155 rs761911708	9	N>S		No	ClinGen ExAC TOPMed gnomAD
CA396828060 rs1158811038	10	V>M		No	ClinGen TOPMed
CA284364539 rs1055717836	12	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1217177613 CA396828080	13	P>S		No	ClinGen gnomAD
rs1335925780 CA396828085	14	E>K		No	ClinGen gnomAD
rs1011172908 CA284364544	15	A>P		No	ClinGen TOPMed gnomAD
rs1011172908 CA396828094	15	A>T		No	ClinGen TOPMed gnomAD
CA8180157 rs4888607	16	T>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs4888607 CA396828099	16	T>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs4888607 CA396828098	16	T>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	17	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs77430739 CA8180159	18	E>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8180158 rs761238363	18	E>K		No	ClinGen ExAC gnomAD
rs1282572535 CA396828119	19	A>S		No	ClinGen TOPMed
rs754218754 CA8180160	20	E>A		No	ClinGen ExAC gnomAD
rs552313156 CA284364569	20	E>D		No	ClinGen Ensembl
CA396828129 rs199890788 CA8180161	21	G>R		No	ClinGen ExAC TOPMed gnomAD
CA396828754 rs1295110550	23	A>G		No	ClinGen TOPMed
CA396828768 rs1379941545	25	S>C		No	ClinGen TOPMed
rs1280578245 CA396828776	26	L>F		No	ClinGen gnomAD
CA8180172 rs748462273	28	T>P		No	ClinGen ExAC gnomAD
rs1255147487 CA396828811	31	L>F		No	ClinGen gnomAD
rs979785477 CA284374958	32	L>P		No	ClinGen Ensembl
rs1283682791 CA396828818	33	A>T		No	ClinGen TOPMed
TCGA novel CA396828829 rs1487191844	34	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen TOPMed gnomAD
rs1438205389 CA396828825	34	M>L		No	ClinGen TOPMed gnomAD
CA396828824 rs1438205389	34	M>V		No	ClinGen TOPMed gnomAD
rs1183850229 CA396828832	35	V>M		No	ClinGen gnomAD
rs1236324771 CA396828844	36	I>M		No	ClinGen gnomAD
CA396828850 rs1457083134	37	K>M		No	ClinGen TOPMed
CA8180173 rs769626926	39	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA284374959 rs769626926	39	Q>K		No	ClinGen ExAC TOPMed gnomAD
CA396828860 rs1158188836 COSM1379914	39	Q>R	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
rs759931856 CA8180178	41	E>G		No	ClinGen ExAC gnomAD
rs918036498 CA396828970	42	G>E		No	ClinGen TOPMed gnomAD
rs918036498 CA284376917	42	G>V		No	ClinGen TOPMed gnomAD
rs1020504016 CA284376930	44	L>R		No	ClinGen Ensembl
rs1404976223 CA396829008	45	E>*		No	ClinGen TOPMed
rs1196981140 CA396829012	45	E>D		No	ClinGen TOPMed gnomAD
rs1300826735 CA396829016	46	P>S		No	ClinGen TOPMed
rs1597384533 CA396829035	47	Q>H		No	ClinGen Ensembl
rs1463211538 CA396829044	48	I>M		No	ClinGen TOPMed
rs1377328004 CA396829041	48	I>R		No	ClinGen gnomAD
CA396829039 rs1348216490	48	I>V		No	ClinGen gnomAD
CA396829060 rs1462799835	49	E>D		No	ClinGen gnomAD
CA396829075 rs765680664	50	D>E		No	ClinGen ExAC TOPMed gnomAD
CA396829063 rs1173355324	50	D>N		No	ClinGen gnomAD
rs1169563929 CA396829078	51	L>M		No	ClinGen TOPMed
rs1465507751 CA396829096	52	I>N		No	ClinGen gnomAD
CA284376933 rs201975154	53	S>C		No	ClinGen Ensembl
rs201975154 CA396829103	53	S>G		No	ClinGen Ensembl
CA8180180 rs775701693	53	S>I		No	ClinGen ExAC gnomAD
rs368565145 CA284376940	54	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs987225576 CA284376962	54	R>Q		No	ClinGen TOPMed gnomAD
CA8180181 rs368565145	54	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1048628217 CA284376992	55	I>T		No	ClinGen TOPMed
rs557682616 CA284376996	57	D>E		No	ClinGen 1000Genomes
CA396829164 rs1326718822	57	D>Y		No	ClinGen gnomAD
rs1189637102 CA396829174	58	L>V		No	ClinGen TOPMed
rs1567426491 CA396829232	61	A>S		No	ClinGen Ensembl
CA396829300 rs1264880342	61	A>V		No	ClinGen gnomAD
rs1261349839 CA396829388	65	S>C		No	ClinGen gnomAD
rs1488155495 CA396829400	66	S>I		No	ClinGen TOPMed gnomAD
rs1488155495 CA396829395	66	S>N		No	ClinGen TOPMed gnomAD
CA396829415 rs1182864341	67	E>G		No	ClinGen gnomAD
rs527797758 CA284377189	67	E>Q		No	ClinGen 1000Genomes
rs1422513897 CA396829473	70	R>G		No	ClinGen gnomAD
CA396829511 rs1191361638	72	T>S		No	ClinGen gnomAD
rs1418063984 CA396829523	73	H>Y		No	ClinGen TOPMed
rs756637352 CA284377208	75	L>F		No	ClinGen TOPMed gnomAD
rs756637352 CA396829575	75	L>I		No	ClinGen TOPMed gnomAD
CA284377205 rs756637352	75	L>V		No	ClinGen TOPMed gnomAD
CA396829595 rs1380326236	76	W>*		No	ClinGen gnomAD
CA396829598 rs1421024095	77	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs776666926 CA8180195	78	A>G		No	ClinGen ExAC gnomAD
CA396829637 rs1415159780	79	L>P		No	ClinGen TOPMed gnomAD
CA396829639 rs1415159780	79	L>R		No	ClinGen TOPMed gnomAD
rs901345831 CA284377214	80	H>R		No	ClinGen TOPMed
CA396829648 rs1376713181	80	H>Y		No	ClinGen gnomAD
rs974188970 CA396829676	81	R>S		No	ClinGen TOPMed gnomAD
rs1307652487 CA396829691	82	E>K		No	ClinGen TOPMed gnomAD
rs1354466445 CA396829732	84	D>H		No	ClinGen TOPMed gnomAD
rs1242463951 CA396829759	85	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA284377685 rs894137239	87	N>D		No	ClinGen TOPMed
rs1014369513 CA284377690	88	G>A		No	ClinGen TOPMed gnomAD
rs1209921071 CA396829897	90	K>E		No	ClinGen gnomAD
CA396829905 rs1459532236	91	V>L		No	ClinGen gnomAD
rs1218593748 CA396829914	92	H>R		No	ClinGen TOPMed
rs753693784 CA8180207	93	L>V		No	ClinGen ExAC TOPMed gnomAD
CA396829934 rs1567426841	95	E>G		No	ClinGen Ensembl
TCGA novel	96	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs754732200 CA8180208	98	G>D		No	ClinGen ExAC TOPMed gnomAD
rs1422678913 CA396829952	98	G>R		No	ClinGen gnomAD
CA396829962 rs1171208031	99	K>N		No	ClinGen gnomAD
rs1002730275 CA284377729	99	K>R		No	ClinGen Ensembl
rs1291445606 CA396829969	100	K>N		No	ClinGen TOPMed
CA284377742 rs1034570326	101	Q>E		No	ClinGen Ensembl
CA8180209 rs778650610	101	Q>H		No	ClinGen ExAC gnomAD
CA284377744 rs375294252	101	Q>R		No	ClinGen gnomAD
rs1216838154 CA396830010	105	R>T		No	ClinGen gnomAD
CA284377998 rs868251722	108	Q>*		No	ClinGen Ensembl
rs1173166695 CA396830040	109	M>I		No	ClinGen TOPMed
rs766375312 CA8180223	109	M>K		No	ClinGen ExAC TOPMed gnomAD
rs766375312 CA396830038	109	M>R		No	ClinGen ExAC TOPMed gnomAD
rs766375312 CA396830037	109	M>T		No	ClinGen ExAC TOPMed gnomAD
CA396830042 rs201765019	110	H>D		No	ClinGen ExAC TOPMed gnomAD
CA8180224 rs201765019	110	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA396830055 rs1473701252	111	C>*		No	ClinGen gnomAD
CA396830052 rs1368985441	111	C>Y		No	ClinGen gnomAD
CA396830059 rs1161410131	112	Q>*		No	ClinGen gnomAD
CA396830057 rs1161410131	112	Q>K		No	ClinGen gnomAD
rs1261858012 CA396830071	113	E>D		No	ClinGen TOPMed
CA8180226 rs765072115	117	E>D		No	ClinGen ExAC TOPMed gnomAD
rs368032327 CA8180225	117	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1396283115 CA396830111	119	Q>*		No	ClinGen gnomAD
CA284378045 rs752482302	120	R>K		No	ClinGen ExAC gnomAD
rs752482302 CA8180227	120	R>T		No	ClinGen ExAC gnomAD
CA396830134 rs1403307544	121	L>M		No	ClinGen gnomAD
rs932271203 CA284379786	121	L>S		No	ClinGen TOPMed gnomAD
CA284379792 rs865895844	122	D>H		No	ClinGen Ensembl
CA284379798 rs925000752	124	R>G		No	ClinGen Ensembl
CA8180234 rs769283453	125	G>R		No	ClinGen ExAC gnomAD
rs1310732670 CA396830176	127	L>P		No	ClinGen gnomAD
rs1374039023 CA396830177	128	E>K		No	ClinGen gnomAD
CA284379814 rs935518643	129	D>N		No	ClinGen Ensembl
CA396830192 rs1256265000	130	L>M		No	ClinGen TOPMed gnomAD
CA8180235 rs61746433	130	L>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA284379815 rs998164224	131	M>I		No	ClinGen Ensembl
CA8180237 rs769488941	133	Q>H		No	ClinGen ExAC gnomAD
rs372796607 CA284379825	134	H>Q		No	ClinGen ESP TOPMed
TCGA novel	135	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA396830260 rs1180444898	139	E>G		No	ClinGen gnomAD
rs1237408100 CA396830255	139	E>K		No	ClinGen gnomAD
rs1050442059 CA284379836	140	F>L		No	ClinGen TOPMed gnomAD
rs1597038777 CA396830273	141	H>P		No	ClinGen Ensembl
CA396830429 rs1306779642	142	M>I		No	ClinGen gnomAD
rs1479315749 CA396830414	142	M>L		No	ClinGen TOPMed gnomAD
CA284380741 rs1022578327	143	L>P		No	ClinGen TOPMed
rs748964147 CA284380742	144	E>K		No	ClinGen gnomAD
CA396830442 rs748964147	144	E>Q		No	ClinGen gnomAD
rs968605546 CA284380744	145	Q>*		No	ClinGen TOPMed gnomAD
CA396830451 rs968605546	145	Q>E		No	ClinGen TOPMed gnomAD
rs1489491229 CA396830461	146	R>*		No	ClinGen gnomAD
CA284380751 rs552208281	148	A>V		No	ClinGen 1000Genomes gnomAD
rs1196220103 CA396830480	149	R>Q		No	ClinGen TOPMed gnomAD
CA8180249 rs756336837	149	R>W		No	ClinGen ExAC TOPMed gnomAD
CA396830495 rs1445555489	150	E>D		No	ClinGen TOPMed
CA8180250 rs766437582	151	I>F		No	ClinGen ExAC gnomAD
rs1328091701 CA396830505	151	I>T		No	ClinGen TOPMed
CA8180251 rs569118734	152	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8180252 rs538039690	152	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1162996398 CA396830542	155	E>K		No	ClinGen TOPMed
rs1162562195 CA396830560	156	R>K		No	ClinGen gnomAD
CA396830587 rs1360702984	158	K>*		No	ClinGen TOPMed gnomAD
CA396830589 rs1360702984	158	K>E		No	ClinGen TOPMed gnomAD
rs1401621202 CA396830614	160	Q>K		No	ClinGen TOPMed gnomAD
CA396830643 rs1296183630	162	L>H		No	ClinGen gnomAD
CA396830653 rs1189818178	163	S>*		No	ClinGen TOPMed
CA396830657 COSM1228086 rs1189818178	163	S>L	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
CA396830673 rs748557852	164	E>D		No	ClinGen ExAC gnomAD
CA284380831 rs1007296092	164	E>G		No	ClinGen gnomAD
rs1314731012 CA396830659	164	E>K		No	ClinGen TOPMed gnomAD
rs1175146810 CA396830709	165	R>M		No	ClinGen TOPMed gnomAD
rs1406720539 CA396830713	165	R>S		No	ClinGen TOPMed gnomAD
CA284381074 rs576725590	166	R>G		No	ClinGen 1000Genomes TOPMed gnomAD
CA396830749 rs1178049710	169	R>C		No	ClinGen gnomAD
rs762844352 CA8180264	170	A>T		No	ClinGen ExAC TOPMed gnomAD
CA284381084 rs1033816203	172	L>R		No	ClinGen TOPMed gnomAD
CA284381098 rs936503255	173	R>P		No	ClinGen gnomAD
rs936503255 CA396830793	173	R>Q		No	ClinGen gnomAD
CA396830791 rs1470927539	173	R>W		No	ClinGen TOPMed
CA396830820 rs1372789109	175	V>E		No	ClinGen gnomAD
CA396830814 rs763843960	175	V>L		No	ClinGen ExAC TOPMed gnomAD
rs763843960 CA8180265	175	V>M		No	ClinGen ExAC TOPMed gnomAD
CA396830833 rs1220030789	177	R>L		No	ClinGen TOPMed gnomAD
CA396830832 rs1220030789	177	R>P		No	ClinGen TOPMed gnomAD
rs13331769 CA8180266	178	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA284381118 rs545587946	178	R>W		No	ClinGen 1000Genomes gnomAD
CA396830838 rs760811844	179	L>M		No	ClinGen ExAC gnomAD
rs1312831234 CA396830842	179	L>R		No	ClinGen TOPMed
CA396830839 rs760811844	179	L>V		No	ClinGen ExAC gnomAD
rs563915036 CA8180268	180	H>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA284381154 rs1051449181	180	H>Q		No	ClinGen TOPMed gnomAD
rs1406537493 CA396830845	180	H>Y		No	ClinGen gnomAD
CA396830853 rs753995398	181	S>L		No	ClinGen ExAC gnomAD
rs753995398 CA8180269	181	S>W		No	ClinGen ExAC gnomAD
CA284381170 rs374627049	182	P>L		No	ClinGen gnomAD
CA8180271 rs542021610	183	P>S		No	ClinGen 1000Genomes ExAC gnomAD
rs1327009450 CA396830875	185	V>A		No	ClinGen gnomAD
rs753308462 CA8180272	185	V>I		No	ClinGen ExAC TOPMed gnomAD
rs758935078 CA8180273	186	E>A		No	ClinGen ExAC TOPMed gnomAD
rs953951130 CA284381204	187	G>S		No	ClinGen TOPMed
rs1223226686 CA396830892	188	A>D		No	ClinGen TOPMed gnomAD
CA396830891 rs1344054936	188	A>S		No	ClinGen gnomAD
rs1320708857 CA396830899	189	M>T		No	ClinGen gnomAD
CA396830896 rs1279397476	189	M>V		No	ClinGen gnomAD
CA284381211 rs985783726	190	A>E		No	ClinGen TOPMed gnomAD
CA396830908 rs985783726	190	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA284381226 rs527608698	191	V>G		No	ClinGen 1000Genomes
rs1321764280 CA396830910	191	V>L		No	ClinGen gnomAD
rs1321764280 CA396830909	191	V>M		No	ClinGen gnomAD
CA396830922 rs1266265195	193	D>N		No	ClinGen TOPMed gnomAD
rs1266188546 CA396830932	194	G>R		No	ClinGen gnomAD
rs1194031235 CA396830935	194	G>V		No	ClinGen gnomAD
rs1389353718 CA396830964	197	A>E		No	ClinGen gnomAD
rs1240470881 CA396830967	198	E>K		No	ClinGen gnomAD
CA284381595 rs913078595	202	F>L		No	ClinGen TOPMed gnomAD
CA396831011 rs1279245132	203	G>R		No	ClinGen gnomAD
CA284381606 rs886604393	204	E>*		No	ClinGen TOPMed gnomAD
rs1201670502 CA396831024	204	E>G		No	ClinGen TOPMed gnomAD
rs886604393 CA396831020	204	E>K		No	ClinGen TOPMed gnomAD
rs1444047643 CA396831038	205	Q>*		No	ClinGen gnomAD
rs774956323 CA396831064	207	R>L		No	ClinGen ExAC TOPMed gnomAD
rs774956323 CA8180282	207	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA396831071 rs1342537163	208	S>G		No	ClinGen gnomAD
CA396831081 rs1403340707	208	S>R		No	ClinGen gnomAD
rs749241925 CA8180283	209	A>T		No	ClinGen ExAC TOPMed gnomAD
rs62049594 CA396831092	210	P>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8180284 rs62049594	210	P>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA396831100 rs1446813553	211	E>*		No	ClinGen gnomAD
CA396831097 rs1446813553	211	E>K		No	ClinGen gnomAD
rs13339340 CA284381624	212	V>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8180285 rs13339340	212	V>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1308711424 CA396831114	212	V>I		No	ClinGen gnomAD
rs1256016860 CA396831123	213	G>A		No	ClinGen TOPMed
CA396831121 rs1256016860	213	G>E		No	ClinGen TOPMed
CA284381629 CA8180286 rs761622839	213	G>R		No	ClinGen ExAC gnomAD
CA8180287 rs534227418	214	A>S		No	ClinGen 1000Genomes ExAC gnomAD
CA396831134 rs1221647361	214	A>V		No	ClinGen TOPMed gnomAD
CA284381709 rs777036442	215	G>C		No	ClinGen ExAC TOPMed gnomAD
CA396831139 rs1196387212	215	G>D		No	ClinGen gnomAD
CA284381687 rs777036442	215	G>R		No	ClinGen ExAC TOPMed gnomAD
rs777036442 CA8180288	215	G>S		No	ClinGen ExAC TOPMed gnomAD
rs949648701 CA284381716	216	E>G		No	ClinGen TOPMed gnomAD
CA396831144 rs1436346625	216	E>K		No	ClinGen gnomAD
CA284381720 rs988908824	217	G>A		No	ClinGen Ensembl
CA396831172 rs1378614086	218	E>*		No	ClinGen gnomAD
CA8180289 rs759812945	218	E>D		No	ClinGen ExAC TOPMed gnomAD
CA396831266 rs1293304341	220	G>R		No	ClinGen TOPMed gnomAD
rs1324784853 CA396831272	220	G>V		No	ClinGen TOPMed gnomAD
CA396831294 rs1292782974	222	E>K		No	ClinGen gnomAD
CA284382027 rs930329994	224	P>R		No	ClinGen Ensembl
CA396831318 rs1220516438	224	P>S		No	ClinGen gnomAD
CA396831329 rs1486376139	225	R>C		No	ClinGen gnomAD
CA396831331 rs1188827278	225	R>H		No	ClinGen gnomAD
rs757598108 CA8180295	226	A>P		No	ClinGen ExAC gnomAD
CA396831335 rs757598108	226	A>S		No	ClinGen ExAC gnomAD
CA396831343 rs1298274807	227	R>G		No	ClinGen TOPMed
CA284382078 rs531138673	228	D>E		No	ClinGen TOPMed gnomAD
rs1386546040 CA396831353	228	D>H		No	ClinGen gnomAD
rs1386546040 CA396831352	228	D>N		No	ClinGen gnomAD
rs1162498951 CA396831373	230	E>K		No	ClinGen TOPMed gnomAD
CA396831375 rs1162498951	230	E>Q		No	ClinGen TOPMed gnomAD
rs1268636040 CA396831395	231	D>V		No	ClinGen TOPMed
CA396831404 rs1360963642	232	P>L		No	ClinGen gnomAD
rs931502367 CA284382079	233	E>K		No	ClinGen TOPMed gnomAD
CA284382097 rs949789329	235	P>L		No	ClinGen TOPMed gnomAD
CA284382085 rs572161827	235	P>S		No	ClinGen 1000Genomes
CA396831445 rs1385050726	236	V>A		No	ClinGen gnomAD
rs1404035462 CA396831456	237	A>G		No	ClinGen TOPMed gnomAD
rs1244102435 CA396831458	238	A>T		No	ClinGen TOPMed gnomAD
rs1314576511 CA396831473	239	P>A		No	ClinGen gnomAD
rs1314576511 CA396831474	239	P>S		No	ClinGen gnomAD
rs1218305277 CA396831488	240	D>E		No	ClinGen TOPMed gnomAD
CA8180297 rs540976985	240	D>N		No	ClinGen 1000Genomes ExAC gnomAD
rs867965904 CA284382101	241	A>T		No	ClinGen Ensembl
CA396831499 rs1485861245	242	L>V		No	ClinGen gnomAD

No associated diseases with A8MT33

No regional properties for A8MT33

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for A8MT33

Functions

		Description
EC Number
Subcellular Localization
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

2 GO annotations of cellular component

Name	Definition
intermediate filament cytoskeleton	Cytoskeletal structure made from intermediate filaments, typically organized in the cytosol as an extended system that stretches from the nuclear envelope to the plasma membrane. Some intermediate filaments run parallel to the cell surface, while others traverse the cytosol; together they form an internal framework that helps support the shape and resilience of the cell.
synaptonemal complex	A proteinaceous scaffold found between homologous chromosomes during meiosis. It consists of 2 lateral elements and a central element, all running parallel to each other. Transverse filaments connect the lateral elements to the central element.

No GO annotations of molecular function

Name	Definition
No GO annotations for molecular function

1 GO annotations of biological process

Name	Definition
synaptonemal complex assembly	The cell cycle process in which the synaptonemal complex is formed. This is a structure that holds paired chromosomes together during prophase I of meiosis and that promotes genetic recombination.

No homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
No homologous proteins

10	20	30	40	50	60
MAGKLKPLNV	EAPEATEEAE	GQAKSLKTED	LLAMVIKLQK	EGSLEPQIED	LISRINDLQQ
70	80	90	100	110	120
AKKKSSEELR	ETHSLWEALH	RELDSLNGEK	VHLEEVLGKK	QEALRILQMH	CQEKESEAQR
130	140	150	160	170	180
LDVRGQLEDL	MGQHKDLWEF	HMLEQRLARE	IRALERSKEQ	LLSERRLVRA	KLREVERRLH
190	200	210	220	230	240
SPPEVEGAMA	VNDGLKAELE	IFGEQVRSAP	EVGAGEGEAG	PELPRARDEE	DPEPPVAAPD

AL