AiPD: Autoinhibited Protein Database

Q13505

Gene name	MTX1 (MTX, MTXN)
Protein name	Metaxin-1
Names	Mitochondrial outer membrane import complex protein 1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:4580
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-135 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-135 (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 Q13505

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q13505-F1	Predicted				AlphaFoldDB

384 variants for Q13505

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1391255425 CA342684374	4	G>E		No	ClinGen gnomAD
rs371540197 CA1140697	4	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA1140703 rs770105309	6	P>H		No	ClinGen ExAC TOPMed gnomAD
CA1140704 rs770105309	6	P>R		No	ClinGen ExAC TOPMed gnomAD
CA1140702 rs748289669	6	P>S		No	ClinGen ExAC gnomAD
CA342684439 rs748289669	6	P>T		No	ClinGen ExAC gnomAD
CA342684458 rs377309496	7	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA1140706 rs377309496	7	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA1140705 rs377309496	7	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs755845788	8	R>A	Variant assessed as Somatic; 5.744e-05 impact. [NCI-TCGA]	No	NCI-TCGA
CA342684486 rs1243337123	8	R>G		No	ClinGen TOPMed gnomAD
rs1243337123 CA342684484	8	R>S		No	ClinGen TOPMed gnomAD
rs1267593722 CA342684649	11	R>H		No	ClinGen gnomAD
TCGA novel	11	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	12	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1571941138 CA342684662	12	S>T		No	ClinGen Ensembl
rs1357514370 CA342684686	12	S>W		No	ClinGen gnomAD
CA342684758 rs1204707943	15	S>N		No	ClinGen gnomAD
rs759037263 CA1140708	15	S>R		No	ClinGen ExAC gnomAD
rs766966387 CA1140711	17	K>Q		No	ClinGen ExAC gnomAD
CA342684807 rs1421972084	17	K>R		No	ClinGen gnomAD
TCGA novel	18	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1140714 rs576992799	19	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs368634289 CA1140715	20	W>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA1140716 rs753621959	21	S>R		No	ClinGen ExAC gnomAD
rs1362040469 CA342684908	21	S>R		No	ClinGen gnomAD
CA1140717 rs757046514	22	S>T		No	ClinGen ExAC gnomAD
rs1353086969 CA342684981	24	G>S		No	ClinGen gnomAD
CA30880599 CA1140718 rs778777390	26	V>L		No	ClinGen ExAC TOPMed gnomAD
CA342685050 rs778777390	26	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1284390270 CA342685167	29	G>S		No	ClinGen gnomAD
CA342685319 rs758403843	33	Q>*		No	ClinGen ExAC gnomAD
CA1140720 rs758403843	33	Q>E		No	ClinGen ExAC gnomAD
TCGA novel	33	Q>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA30880626 rs544260151	38	R>L		No	ClinGen 1000Genomes TOPMed gnomAD
rs748319329 CA1140722	38	R>S		No	ClinGen ExAC gnomAD
CA342685640 rs1429254338	40	R>K		No	ClinGen TOPMed gnomAD
rs1304687168 CA342685658	40	R>S		No	ClinGen TOPMed
CA342685664 rs1256804829	41	P>H		No	ClinGen gnomAD
rs1256804829 CA342685667	41	P>R		No	ClinGen gnomAD
rs770138171 CA1140723	43	S>F		No	ClinGen ExAC gnomAD
CA342685726 rs1382015687	44	P>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1382015687 CA342685731	44	P>S		No	ClinGen TOPMed gnomAD
rs778147019 CA1140724	45	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs749607249 CA1140726	46	P>L		No	ClinGen ExAC TOPMed gnomAD
rs749607249 CA1140727	46	P>R		No	ClinGen ExAC TOPMed gnomAD
CA342685817 rs1356870291	46	P>S		No	ClinGen gnomAD
rs774957655 CA342685916	48	A>E		No	ClinGen ExAC TOPMed gnomAD
CA1140728 rs774957655	48	A>G		No	ClinGen ExAC TOPMed gnomAD
rs1305063398 CA342685898	48	A>T		No	ClinGen gnomAD
rs759927568 CA1140729	49	P>L		No	ClinGen ExAC gnomAD
rs1307510514 CA342685943	49	P>S		No	ClinGen gnomAD
rs1241054232 CA342685969	50	S>L		No	ClinGen gnomAD
rs774846663 CA342686019	51	G>A		No	ClinGen ExAC TOPMed gnomAD
rs774846663 CA1140731	51	G>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA30880648 rs34921532	51	G>R		No	ClinGen TOPMed
CA342686023 rs1427110971	52	V>I		No	ClinGen TOPMed
CA1140732 rs760296290	53	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs763664713 CA1140733	54	G>A		No	ClinGen ExAC gnomAD
rs763664713 CA342686068	54	G>V		No	ClinGen ExAC gnomAD
CA1140735 rs761559280	56	T>A		No	ClinGen ExAC gnomAD
CA342686138 rs1571942064	58	T>P		No	ClinGen Ensembl
rs1176122321 CA342686161	59	R>K		No	ClinGen gnomAD
CA342686200 rs1329910414	61	R>G		No	ClinGen gnomAD
CA1140740 rs758257421	62	D>N		No	ClinGen ExAC gnomAD
rs760077 CA342686292	63	S>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1203147318 CA342686323	63	S>F		No	ClinGen TOPMed
rs760077 RCV000946501 CA30880701 VAR_047376	63	S>T		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA342686335 rs1365717557	64	P>S		No	ClinGen gnomAD
rs1307007028 CA342686420	66	R>C		No	ClinGen gnomAD
CA342686410 rs1307007028	66	R>S		No	ClinGen gnomAD
rs1259954001 CA342686502	68	G>R		No	ClinGen gnomAD
CA342686520 rs778092146	69	P>A		No	ClinGen ExAC TOPMed gnomAD
CA1140744 rs778092146	69	P>S		No	ClinGen ExAC TOPMed gnomAD
CA342686565 rs1212817354	70	T>I		No	ClinGen gnomAD
CA1140745 rs749552182	71	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA1140746 rs757592720	72	L>V		No	ClinGen ExAC TOPMed gnomAD
CA1140748 rs369692343	73	S>F		No	ClinGen ESP ExAC gnomAD
rs369692343 CA342686623	73	S>Y		No	ClinGen ESP ExAC gnomAD
CA30880720 rs1005583605	74	R>C		No	ClinGen TOPMed
rs1296199481 CA342686638	74	R>H		No	ClinGen TOPMed
rs1426381878 CA342686681	76	V>L		No	ClinGen TOPMed gnomAD
rs1348562146 CA342686687	77	G>S		No	ClinGen gnomAD
rs1335427967 CA342686761	80	W>S		No	ClinGen TOPMed
rs772450682 CA1140750	81	M>T		No	ClinGen ExAC TOPMed gnomAD
rs1016501260 CA30880733	82	G>D		No	ClinGen TOPMed gnomAD
CA30880737 rs963396491	84	R>P		No	ClinGen TOPMed gnomAD
rs963396491 CA342686894	84	R>Q		No	ClinGen TOPMed gnomAD
rs1398257389 CA342686885	84	R>W		No	ClinGen gnomAD
TCGA novel	86	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA30880778 rs995818317	90	A>D		No	ClinGen TOPMed gnomAD
CA342687113 rs1474630243	90	A>S		No	ClinGen TOPMed
CA342687115 rs995818317	90	A>V		No	ClinGen TOPMed gnomAD
CA342687120 rs1453731475	91	R>C		No	ClinGen Ensembl
rs1323287286 CA342687144	92	G>R		No	ClinGen gnomAD
rs978443293 CA30880782	95	P>S		No	ClinGen TOPMed gnomAD
CA342687255 rs1195171221	96	R>H		No	ClinGen TOPMed gnomAD
CA342687235 rs1177563685	96	R>S		No	ClinGen TOPMed gnomAD
TCGA novel	97	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA30880789 rs925575119	98	S>L		No	ClinGen Ensembl
rs1263354846 CA342687361	99	A>T		No	ClinGen gnomAD
rs372914521 CA1140751	99	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA342687459 rs1163204154	103	A>T		No	ClinGen gnomAD
CA30880812 rs917011173	105	R>K		No	ClinGen Ensembl
TCGA novel CA342687527 rs1279264159	105	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen gnomAD NCI-TCGA
CA342687604 rs1407469656	107	L>H		No	ClinGen gnomAD
CA342687655 rs1384451406	109	S>F		No	ClinGen TOPMed
rs1452715605 CA342687646	109	S>P		No	ClinGen TOPMed
CA1140753 rs746453727	110	P>A		No	ClinGen ExAC TOPMed gnomAD
CA342687682 rs1360111394	110	P>R		No	ClinGen gnomAD
CA1140752 rs746453727	110	P>T		No	ClinGen ExAC TOPMed gnomAD
CA342687784 rs1447109239	114	P>A		No	ClinGen gnomAD
CA342687789 rs1282383162	114	P>Q		No	ClinGen gnomAD
rs1263782855 CA342687824	115	G>D		No	ClinGen gnomAD
CA342687816 rs1381005605	115	G>S		No	ClinGen TOPMed gnomAD
CA1140756 rs527512238	117	L>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs527512238 CA30880849	117	L>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA30880861 rs1038626816	119	A>E		No	ClinGen Ensembl
CA1140758 rs772881234	119	A>S		No	ClinGen ExAC TOPMed gnomAD
rs772881234 CA1140757	119	A>T		No	ClinGen ExAC TOPMed gnomAD
rs757539624 CA30880868	120	T>A		No	ClinGen TOPMed gnomAD
rs768059574 CA1140759	120	T>K		No	ClinGen ExAC TOPMed gnomAD
CA1140760 rs768059574	120	T>M		No	ClinGen ExAC TOPMed gnomAD
CA342687944 rs768059574	120	T>R		No	ClinGen ExAC TOPMed gnomAD
rs1306395574 CA342687989	121	I>N		No	ClinGen TOPMed
TCGA novel	121	I>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1440878852 CA342687996	122	G>*		No	ClinGen TOPMed
CA342688017 rs1380148776	123	G>R		No	ClinGen gnomAD
rs756221795 CA1140761	123	G>V		No	ClinGen ExAC TOPMed gnomAD
CA30880880 rs949511322	125	V>G		No	ClinGen TOPMed gnomAD
rs1361200216 CA342688078	126	A>S		No	ClinGen gnomAD
CA342688080 rs1557886823	126	A>V		No	ClinGen Ensembl
rs1332327918 CA342688086	127	G>E		No	ClinGen gnomAD
rs1364168943 CA342688083	127	G>R		No	ClinGen TOPMed
rs764236053 CA342688102	128	G>A		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	128	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA30880909 rs1030145225	128	G>C		No	ClinGen TOPMed
CA1140763 rs764236053	128	G>D		No	ClinGen ExAC TOPMed gnomAD
rs754017927 CA1140764	129	G>E		No	ClinGen ExAC gnomAD
CA342688142 rs1308239594	129	G>R		No	ClinGen TOPMed gnomAD
TCGA novel	130	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA342688195 rs1364590419	131	R>T		No	ClinGen TOPMed
CA342688213 rs1241784732	132	Q>K		No	ClinGen gnomAD
CA30880927 rs886637899	132	Q>P		No	ClinGen TOPMed gnomAD
CA1140765 rs200737782	133	G>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1343611950 CA342688257	133	G>R		No	ClinGen gnomAD
rs1222983926 CA342688337	134	R>S		No	ClinGen TOPMed
rs1490809178 CA342688377	135	A>E		No	ClinGen TOPMed
rs1469739414 CA342688407	136	E>G		No	ClinGen gnomAD
rs1038376054 CA30880933	137	A>G		No	ClinGen TOPMed
rs1350834345 CA342688489	138	H>Y		No	ClinGen TOPMed
CA342688522 rs1204929053	139	K>E		No	ClinGen gnomAD
CA342688627 rs1302870542	140	E>D		No	ClinGen TOPMed
rs1438256329 CA342688667	142	F>I		No	ClinGen gnomAD
CA1140768 rs746148105	143	P>L		No	ClinGen ExAC gnomAD
rs1381124471 CA342688732	144	G>E		No	ClinGen gnomAD
rs1571943895 CA342688825	147	V>G		No	ClinGen Ensembl
CA1140770 rs780389914	147	V>L		No	ClinGen ExAC gnomAD
rs890122577 CA30880965	148	G>S		No	ClinGen TOPMed
CA342688894 rs1316917749	150	M>L		No	ClinGen TOPMed
rs1330597209 CA342688975	152	A>E		No	ClinGen TOPMed gnomAD
rs747487609 CA1140771	152	A>T		No	ClinGen ExAC gnomAD
rs1330597209 CA342688979	152	A>V		No	ClinGen TOPMed gnomAD
rs964548030 CA30880974	153	P>S		No	ClinGen Ensembl
rs1479552019 CA342689073	154	M>I		No	ClinGen TOPMed
rs183132910 CA30880981	154	M>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs183132910 CA1140772	154	M>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1385816949 CA342689047	154	M>V		No	ClinGen TOPMed
CA342689087 rs1330119564	155	E>A		No	ClinGen gnomAD
CA342689080 rs1428898255	155	E>Q		No	ClinGen TOPMed
rs1230697047 CA342689147	156	L>Q		No	ClinGen gnomAD
CA342689191 rs1345132588	157	F>L		No	ClinGen gnomAD
CA30880996 rs549800836	157	F>Y		No	ClinGen 1000Genomes
CA1140773 rs776107558	159	W>C		No	ClinGen ExAC gnomAD
CA30881021 rs568110395	161	G>E		No	ClinGen 1000Genomes ExAC gnomAD
CA342689281 rs1258019106	161	G>R		No	ClinGen TOPMed gnomAD
CA1140774 rs568110395	161	G>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1251766010 CA342689300	162	G>A		No	ClinGen gnomAD
CA342689298 COSM3976190 rs1215063467	162	G>C	lung [Cosmic]	No	ClinGen cosmic curated TOPMed
CA1140775 rs769264753	163	W>C		No	ClinGen ExAC gnomAD
TCGA novel	163	W>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA342689365 rs1480817079	166	P>S		No	ClinGen gnomAD
CA342689455 rs1283528269	168	V>A		No	ClinGen TOPMed
rs1020019401 CA30881036	168	V>M		No	ClinGen TOPMed gnomAD
CA30881038 rs916979959	172	S>G		No	ClinGen Ensembl
rs967635217 CA342689593	172	S>I		No	ClinGen TOPMed
CA30881043 rs967635217	172	S>N		No	ClinGen TOPMed
CA342689594 rs1571944374	172	S>R		No	ClinGen Ensembl
CA342689621 rs1171105804	174	A>T		No	ClinGen gnomAD
rs1389826550 CA342689627	174	A>V		No	ClinGen gnomAD
rs774052863 CA1140779	175	V>M		No	ClinGen ExAC gnomAD
rs1346331074 CA342689651	176	L>V		No	ClinGen TOPMed
TCGA novel	177	T>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1140793 rs138202522	177	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA1140794 rs748938745	179	A>T		No	ClinGen ExAC gnomAD
CA1140795 rs770537729	179	A>V		No	ClinGen ExAC gnomAD
CA1140796 rs774273033	182	T>A		No	ClinGen ExAC gnomAD
CA30881574 rs924836185	182	T>S		No	ClinGen TOPMed
rs935695653 CA30881575	183	G>D		No	ClinGen TOPMed
rs989738306 CA30881579	186	L>P		No	ClinGen TOPMed
rs775577632 CA1140799	188	V>A		No	ClinGen ExAC TOPMed gnomAD
CA1140798 rs772065889	188	V>I		No	ClinGen ExAC TOPMed gnomAD
rs772065889 CA342690823	188	V>L		No	ClinGen ExAC TOPMed gnomAD
rs761746358 CA1140800	189	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA1140801 rs144334421	190	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs750522511 CA1140803	191	I>S		No	ClinGen ExAC gnomAD
rs750522511 CA1140802	191	I>T		No	ClinGen ExAC gnomAD
rs1347689891 CA342691018	192	S>C		No	ClinGen TOPMed
rs1189347719 CA342691022	192	S>N		No	ClinGen gnomAD
CA342691085 CA1140804 rs766579470	193	N>K		No	ClinGen ExAC TOPMed gnomAD
rs755352347 CA1140806	195	W>L		No	ClinGen ExAC gnomAD
rs1450660517 CA342691247	198	P>R		No	ClinGen TOPMed
CA30881634 rs1045447111	198	P>S		No	ClinGen TOPMed
rs145946343 CA1140807	199	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA1140833 rs745543752	200	G>E		No	ClinGen ExAC gnomAD
rs758177373 CA1140834	201	T>A		No	ClinGen ExAC gnomAD
CA342691561 rs1204933882	202	L>V		No	ClinGen TOPMed
CA342691617 rs1190273496	203	P>L		No	ClinGen gnomAD
rs1219651620 CA342691622	204	A>T		No	ClinGen gnomAD
CA1140837 COSM675788 rs768575109	206	R>Q	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs142052998 CA1140836	206	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200633986 CA1140838	207	T>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1140840 rs771030118	208	S>G		No	ClinGen ExAC gnomAD
CA342691786 rs1230291069	209	H>D		No	ClinGen TOPMed
CA342691851 rs1356649067	210	G>E		No	ClinGen TOPMed gnomAD
rs1287437939 CA342691961	213	I>N		No	ClinGen TOPMed
rs1410210676 CA342692004	215	V>D		No	ClinGen TOPMed
rs199905833 CA30881799	217	H>P		No	ClinGen gnomAD
rs1164574113 CA342692084	217	H>Y		No	ClinGen TOPMed gnomAD
rs568135446 CA1140842	218	K>R		No	ClinGen 1000Genomes ExAC gnomAD
CA1140843 rs535135869	220	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1571948048 CA342692230	221	T>P		No	ClinGen Ensembl
rs1284055889 CA342692273	222	H>D		No	ClinGen TOPMed gnomAD
CA342692272 rs1284055889	222	H>N		No	ClinGen TOPMed gnomAD
COSM896810 CA1140845 rs762019411	224	R>*	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA30881811 rs762019411	224	R>G		No	ClinGen ExAC gnomAD
CA342692325 rs1259672582	224	R>Q		No	ClinGen TOPMed gnomAD
rs371111724 CA1140869	228	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA1140868 COSM896811 rs201017167	228	Y>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA342693797 rs1260310366	229	N>K		No	ClinGen gnomAD
CA1140870 rs201848835	229	N>S		No	ClinGen ESP ExAC gnomAD
CA30882870 rs201848835	229	N>T		No	ClinGen ESP ExAC gnomAD
CA342693862 rs1345687958	231	D>Y		No	ClinGen gnomAD
rs1447294507 CA342694026	233	D>G		No	ClinGen gnomAD
CA342694021 rs1557890682	233	D>Y		No	ClinGen Ensembl
rs367972601 CA1140871	234	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs751204623 CA1140872	235	S>P		No	ClinGen ExAC gnomAD
CA1140874 rs199762376	236	A>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1140873 rs754699233	236	A>T		No	ClinGen ExAC TOPMed gnomAD
rs139091255 CA1140876	237	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM3788776 rs752545512 CA1140875	237	R>W	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA342694220 rs1448077037	239	G>R		No	ClinGen gnomAD
CA1140877 rs370446892	240	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1557890712 CA342694327	242	T>I		No	ClinGen Ensembl
CA342694351 rs1462952012	243	L>P		No	ClinGen gnomAD
TCGA novel	244	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1140880 rs780278284	246	M>I		No	ClinGen ExAC gnomAD
rs772158304 CA1140879	246	M>T		No	ClinGen ExAC gnomAD
CA342694562 rs1257395336	251	E>*		No	ClinGen TOPMed
CA1140885 rs374898763	252	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA342694603 rs1413782781	252	K>R		No	ClinGen TOPMed gnomAD
CA1140887 rs146096374	254	L>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1140886 rs146096374	254	L>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs765775436 CA1140889	255	P>L		No	ClinGen ExAC TOPMed gnomAD
CA342694704 rs1330485871	255	P>S		No	ClinGen gnomAD
CA342694840 rs1192870310	258	V>L		No	ClinGen gnomAD
rs751538045 CA342694882	259	H>Q		No	ClinGen ExAC gnomAD
TCGA novel	262	W>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1463360346 CA342694954	262	W>S		No	ClinGen gnomAD
CA342695002 rs1168318919	263	I>T		No	ClinGen TOPMed gnomAD
CA30883146 COSM107538 rs147593131	265	T>I	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
rs181961651 CA1140917	266	K>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs781528032 CA1140918	267	N>T		No	ClinGen ExAC gnomAD
CA1140920 rs148055827	268	Y>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs771274044 CA1140924	269	V>A		No	ClinGen ExAC gnomAD
rs771274044 CA1140923	269	V>E		No	ClinGen ExAC gnomAD
CA1140921 rs375049335	269	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs375049335 CA1140922	269	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs571812600 CA30883210	270	E>K		No	ClinGen 1000Genomes gnomAD
rs1318663746 CA342695289	271	V>A		No	ClinGen TOPMed
CA1140926 rs369259801	271	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs372693149 CA1140928	273	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA1140929 rs763791200	273	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs372693149 CA1140927	273	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA1140931 rs201939197	274	K>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1140930 rs539129481	274	K>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs750409995 CA1140933	275	W>R		No	ClinGen ExAC gnomAD
CA1140934 rs758308725	277	A>T		No	ClinGen ExAC gnomAD
TCGA novel	278	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1140935 rs767683056	278	E>Q		No	ClinGen ExAC gnomAD
rs1454698212 CA342695478	280	M>I		No	ClinGen TOPMed
TCGA novel	280	M>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs369022011 CA1140936	280	M>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1177141864 CA342695471	280	M>V		No	ClinGen TOPMed gnomAD
CA1140937 rs756401720	281	P>T		No	ClinGen ExAC TOPMed gnomAD
CA30883263 rs1035332431	284	L>F		No	ClinGen TOPMed gnomAD
CA342695601 rs1295864759	287	F>L		No	ClinGen gnomAD
rs778145000 CA342695666	289	P>L		No	ClinGen ExAC TOPMed gnomAD
rs778145000 CA1140938	289	P>R		No	ClinGen ExAC TOPMed gnomAD
CA30883276 rs543008804	289	P>S		No	ClinGen 1000Genomes
rs555264714 CA1140939	291	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1140940 rs143655609	291	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1299646320 CA342695706	292	M>L		No	ClinGen gnomAD
CA1140942 rs746350869	293	Q>*		No	ClinGen ExAC gnomAD
CA342695752 rs1426984502	293	Q>R		No	ClinGen TOPMed
rs202230026 CA1140944	294	R>G		No	ClinGen ExAC TOPMed gnomAD
CA1140945 rs373513672	294	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs202230026 CA1140943	294	R>W		No	ClinGen ExAC TOPMed gnomAD
CA342695781 rs1239485253	295	Q>E		No	ClinGen TOPMed gnomAD
rs1259094545 CA342695864	297	M>T		No	ClinGen gnomAD
rs776371043 CA1140947	299	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA1140946 rs200446524	299	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1255160934 CA342695963	302	L>Q		No	ClinGen TOPMed gnomAD
CA342695999 rs1459840428	304	T>I		No	ClinGen gnomAD
CA1140949 rs769603520	306	E>D		No	ClinGen ExAC TOPMed gnomAD
rs1385452197 CA342696022	306	E>K		No	ClinGen gnomAD
rs1295228260 CA342696102	307	H>Q		No	ClinGen TOPMed
CA1140950 rs772930069	308	R>G		No	ClinGen ExAC gnomAD
rs752758999 CA1140953	312	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA342696241 rs1405757131	313	E>*		No	ClinGen gnomAD
CA1140954 rs760849108	313	E>D		No	ClinGen ExAC TOPMed gnomAD
CA1140955 rs764360645	314	E>K		No	ClinGen ExAC TOPMed
rs757460035 CA1140957	315	L>V		No	ClinGen ExAC gnomAD
CA1140958 rs41264923	316	E>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1140959 rs750807929	318	E>K		No	ClinGen ExAC gnomAD
TCGA novel	319	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1356485008 CA342696640	321	R>*		No	ClinGen TOPMed gnomAD
rs1462748761 CA342696641	321	R>Q		No	ClinGen TOPMed gnomAD
CA342696656 rs1418046099	322	E>G		No	ClinGen TOPMed
CA342696644 rs1302553636	322	E>K		No	ClinGen gnomAD
CA342696676 rs1250769958	323	A>V		No	ClinGen TOPMed
rs755726613 CA1140983	324	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1406645633 CA342696680	324	R>W		No	ClinGen TOPMed gnomAD
rs1571950477 CA342696731	326	C>G		No	ClinGen Ensembl
rs1571950488 CA342696776	326	C>W		No	ClinGen Ensembl
rs770878465 CA1140986	331	S>C		No	ClinGen ExAC TOPMed gnomAD
CA342696938 rs1288884437	332	Q>L		No	ClinGen gnomAD
CA1140987 rs774326256	333	R>C		No	ClinGen ExAC gnomAD
CA1140988 rs745777182	333	R>H		No	ClinGen ExAC TOPMed gnomAD
CA342697019 rs1295694578	334	L>P		No	ClinGen TOPMed
rs771956610 CA1140989	335	G>D		No	ClinGen ExAC TOPMed gnomAD
rs1335193271 CA342697060	336	S>F		No	ClinGen TOPMed
CA342697095 rs1485862059	337	Q>H		No	ClinGen gnomAD
rs1422101658 CA342697204	342	G>A		No	ClinGen TOPMed gnomAD
CA342697200 rs1422101658	342	G>E		No	ClinGen TOPMed gnomAD
rs776764435 COSM896813 CA1140990	344	A>V	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA342697539 rs1571951039	349	D>A		No	ClinGen Ensembl
CA342697537 rs1571951036	349	D>Y		No	ClinGen Ensembl
CA342697552 rs1161226149	350	A>S		No	ClinGen TOPMed gnomAD
rs1161226149 CA342697557	350	A>T		No	ClinGen TOPMed gnomAD
CA1141004 rs200048001	351	F>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs573520476 CA1141005	352	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1571951058 CA342697603	354	S>G		No	ClinGen Ensembl
rs1571951063 CA342697699	356	L>W		No	ClinGen Ensembl
CA342697868 rs1427767463	363	K>R		No	ClinGen TOPMed gnomAD
CA342697968 rs1571951092	366	S>R		No	ClinGen Ensembl
CA342698084 rs1557891562	371	V>I		No	ClinGen Ensembl
CA342698138 rs1571951109	372	H>P		No	ClinGen Ensembl
rs1571951115 CA342698156	373	L>M		No	ClinGen Ensembl
CA342698374 rs1171961327	383	C>Y		No	ClinGen TOPMed
rs1454025467 CA342698398	384	T>I		No	ClinGen TOPMed
rs1222526877 CA342698404	385	H>D		No	ClinGen TOPMed gnomAD
rs1222526877 CA342698408	385	H>Y		No	ClinGen TOPMed gnomAD
CA342698464 rs1571951154	386	I>S		No	ClinGen Ensembl
rs1286921693 CA342698484	387	L>V		No	ClinGen gnomAD
CA342698555 rs1330483332	389	L>P		No	ClinGen gnomAD
CA342698591 rs1571951170	391	F>C		No	ClinGen Ensembl
rs1203417672 CA342698740	396	A>T		No	ClinGen gnomAD
rs1288849755 CA342698936	400	P>L		No	ClinGen TOPMed
rs1327806139 CA342699225	412	E>K		No	ClinGen gnomAD
rs1333664697 CA342699295	415	Y>C		No	ClinGen gnomAD
rs1443710360 CA342699306	416	R>W		No	ClinGen TOPMed gnomAD
CA342699335 rs1279685300	417	R>C		No	ClinGen gnomAD
rs1351638517 CA342699353	417	R>H		No	ClinGen gnomAD
CA342699386 rs1326127102	418	R>Q		No	ClinGen gnomAD
rs1281705834 CA342699385	418	R>W		No	ClinGen gnomAD
rs1201207565 CA342699438	419	N>I		No	ClinGen gnomAD
rs1272520591 CA342699659	425	L>M		No	ClinGen gnomAD
rs1252637299 CA342700124	439	G>S		No	ClinGen gnomAD
CA342700329 rs1197218751	445	R>Q		No	ClinGen gnomAD
CA342700324 rs1480038897	445	R>W		No	ClinGen gnomAD
CA342700423 rs1480624120	447	T>M		No	ClinGen gnomAD
CA342700490 rs1167162036	450	R>Q		No	ClinGen gnomAD
CA342700602 rs1393857207	455	R>Q		No	ClinGen gnomAD

No associated diseases with Q13505

1 regional properties for Q13505

Type	Name	Position	InterPro Accession
conserved_site	Ribosomal protein L27, conserved site	91 - 105	IPR018261

Functions

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

5 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
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.
MIB complex	A mitochondrial intermembrane space bridging complex consisting of components of the MICOS complex in the inner mitochondrial membrane, the SAM complex in the outer membrane, a conserved DNAJ protein (human DNAJC11) and Metaxin 1.
mitochondrial outer membrane	The outer, i.e. cytoplasm-facing, lipid bilayer of the mitochondrial envelope.
SAM complex	A large complex of the mitochondrial outer membrane that mediates sorting of some imported proteins to the outer membrane and their assembly in the membrane; functions after import of incoming proteins by the mitochondrial outer membrane translocase complex.

No GO annotations of molecular function

Name	Definition
No GO annotations for molecular function

4 GO annotations of biological process

Name	Definition
inner mitochondrial 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 mitochondrial inner membrane.
lactation	The regulated release of milk from the mammary glands and the period of time that a mother lactates to feed her young.
mitochondrion organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a mitochondrion; includes mitochondrial morphogenesis and distribution, and replication of the mitochondrial genome as well as synthesis of new mitochondrial components.
protein insertion into mitochondrial outer membrane	The process comprising the insertion of proteins from outside the organelle into the mitochondrial outer membrane, mediated by large outer membrane translocase complexes.

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
O45503	mtx-1	Metaxin-1 homolog	Caenorhabditis elegans	PR

10	20	30	40	50	60
MLLGGPPRSP	RSGTSPKGPW	SSTGHVQFGK	SPQTWPRRTR	PRSPEPAAPS	GVRGSTWTRR
70	80	90	100	110	120
RDSPRRAGPT	ALSRYVGHLW	MGRRPPSPEA	RGPVPRSSAA	SRARRSLASP	GISPGPLTAT
130	140	150	160	170	180
IGGAVAGGGP	RQGRAEAHKE	VFPGQRVGKM	AAPMELFCWS	GGWGLPSVDL	DSLAVLTYAR
190	200	210	220	230	240
FTGAPLKVHK	ISNPWQSPSG	TLPALRTSHG	EVISVPHKII	THLRKEKYNA	DYDLSARQGA
250	260	270	280	290	300
DTLAFMSLLE	EKLLPVLVHT	FWIDTKNYVE	VTRKWYAEAM	PFPLNFFLPG	RMQRQYMERL
310	320	330	340	350	360
QLLTGEHRPE	DEEELEKELY	REARECLTLL	SQRLGSQKFF	FGDAPASLDA	FVFSYLALLL
370	380	390	400	410	420
QAKLPSGKLQ	VHLRGLHNLC	AYCTHILSLY	FPWDGAEVPP	QRQTPAGPET	EEEPYRRRNQ
430	440	450	460
ILSVLAGLAA	MVGYALLSGI	VSIQRATPAR	APGTRTLGMA	EEDEEE