AiPD: Autoinhibited Protein Database

Q6UXV4

Gene name	APOOL (CXorf33, FAM121A, MIC27)
Protein name	MICOS complex subunit MIC27
Names	Apolipoprotein O-like, Protein FAM121A
Species	Homo sapiens (Human)
KEGG Pathway	hsa:139322
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-86 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-86 (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 Q6UXV4

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q6UXV4-F1	Predicted				AlphaFoldDB

177 variants for Q6UXV4

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1478437257 CA413767931	2	A>S		No	ClinGen TOPMed
rs1260870204 CA413767951	5	R>W		No	ClinGen gnomAD
CA10464018 rs756859672	7	G>E		No	ClinGen ExAC gnomAD
TCGA novel	10	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10464020 rs745866133 CA332494789	12	M>I		No	ClinGen ExAC TOPMed gnomAD
rs937257612 CA332494788	12	M>V		No	ClinGen Ensembl
CA10464021 rs372285686	14	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs372285686 CA413769315	14	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs377106387 CA10464022	15	G>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	16	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10464023 rs749453848	17	I>V		No	ClinGen ExAC
rs369827344 CA10464024	19	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA413769354 rs1480173576	20	S>C		No	ClinGen gnomAD
TCGA novel	20	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs201608777 CA10464025	21	V>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA413769370 rs1254279940	23	V>I		No	ClinGen gnomAD
TCGA novel	24	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1198802369 CA413769387	25	A>V		No	ClinGen TOPMed gnomAD
rs1048824898 CA332494790	26	A>T		No	ClinGen TOPMed
CA332494791 rs779241268	28	Q>L		No	ClinGen 1000Genomes gnomAD
rs761316302 CA10464029	29	E>Q		No	ClinGen ExAC gnomAD
CA10464030 rs182986217	30	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	33	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1300223869 CA413769492	34	Q>R		No	ClinGen gnomAD
rs754174284 CA10464031	36	V>M		No	ClinGen ExAC gnomAD
CA413769521 rs1402651618	37	K>E		No	ClinGen gnomAD
TCGA novel	38	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA413770039 rs1346767428	41	L>F		No	ClinGen TOPMed
rs906727174 CA332495164	43	I>M		No	ClinGen TOPMed
CA413770050 rs1276959690	43	I>V		No	ClinGen TOPMed
rs1437689365 CA413770056	44	Y>H		No	ClinGen TOPMed
CA10464052 rs751223918	45	T>A		No	ClinGen ExAC gnomAD
rs182629060 CA332495165	46	A>S		No	ClinGen 1000Genomes TOPMed
rs182629060 CA413770068	46	A>T		No	ClinGen 1000Genomes TOPMed
CA10464055 rs186559353	48	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10464053 rs761624112	48	P>S		No	ClinGen ExAC gnomAD
CA10464054 rs761624112	48	P>T		No	ClinGen ExAC gnomAD
CA413770089 rs779999019	50	Q>*		No	ClinGen ExAC gnomAD
CA332495167 rs750319138	50	Q>H		No	ClinGen Ensembl
CA10464057 rs779999019	50	Q>K		No	ClinGen ExAC gnomAD
CA413770095 rs1241736002	51	S>P		No	ClinGen gnomAD
rs1182125747 CA413770115	53	Y>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs779012099 CA332495168	59	G>D		No	ClinGen 1000Genomes TOPMed
CA413770175 rs1444419884	62	Q>P		No	ClinGen gnomAD
rs753792615 CA10464058	63	M>T		No	ClinGen ExAC TOPMed gnomAD
rs745899364 CA10464059	64	G>S		No	ClinGen 1000Genomes ExAC gnomAD
rs778748950 CA10464060	69	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA332495169 rs867338248	70	T>I		No	ClinGen Ensembl
rs376748779 CA10464062	72	T>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs376748779 CA413770236	72	T>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs777863001 CA10464063	73	G>S		No	ClinGen ExAC gnomAD
CA413770247 rs1602767132	74	C>R		No	ClinGen Ensembl
TCGA novel	74	C>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA413770279 rs1451692933	78	W>S		No	ClinGen gnomAD
rs1207483266 CA413770286	79	C>R		No	ClinGen TOPMed
CA10464065 rs374498221	79	C>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs1165635946 CA413770318	81	G>A		No	ClinGen TOPMed
rs1281213705 CA413770316	81	G>C		No	ClinGen gnomAD
rs1165635946 CA413770319	81	G>V		No	ClinGen TOPMed
rs1436414408 CA413770322	82	V>F		No	ClinGen gnomAD
CA10464091 rs778075411	83	Y>C		No	ClinGen 1000Genomes ExAC gnomAD
rs778075411 CA413770330	83	Y>F		No	ClinGen 1000Genomes ExAC gnomAD
rs1231987519 CA413770334	84	V>F		No	ClinGen gnomAD
rs1231987519 CA413770335	84	V>I		No	ClinGen gnomAD
rs746362699 CA10464094	89	G>A		No	ClinGen ExAC gnomAD
rs181950505 CA10464095	91	M>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA332495355 rs987339432	91	M>T		No	ClinGen TOPMed
CA10464096 rs776141433	92	D>G		No	ClinGen ExAC gnomAD
CA332495356 rs940244396	93	T>A		No	ClinGen TOPMed gnomAD
rs1210368187 CA413770401	94	V>L		No	ClinGen gnomAD
rs1463270531 CA413770422	97	G>R		No	ClinGen gnomAD
CA10464104 rs765119431	100	A>P		No	ClinGen ExAC TOPMed gnomAD
rs758192471 CA10464106	102	V>G		No	ClinGen ExAC gnomAD
CA332495458 rs1015762674	102	V>I		No	ClinGen TOPMed
rs376912537 CA332495459	103	Y>C		No	ClinGen ESP TOPMed
rs1431899990 CA413770633	104	L>M		No	ClinGen gnomAD
CA10464108 rs763837647	107	P>L		No	ClinGen ExAC gnomAD
CA413770715 rs1461752718	108	P>A		No	ClinGen TOPMed
rs1387460582 CA413770736	109	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs368247345 CA10464109	109	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs377236926 CA10464111	113	P>A		No	ClinGen ESP ExAC gnomAD
COSM3780573 rs745872826 CA10464112	113	P>L	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs185104720 CA10464113	115	M>L		No	ClinGen 1000Genomes ExAC gnomAD
CA10464114 rs780655372	118	I>M		No	ClinGen ExAC
rs770560531 CA10464115	120	V>F		No	ClinGen 1000Genomes ExAC gnomAD
rs369915900 CA10464116	121	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA10464119 rs770508666	122	G>V		No	ClinGen ExAC gnomAD
rs774166758 CA10464121	124	A>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM1126054 CA10464120 rs774166758	124	A>V	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs762864062 CA10464124	125	G>D		No	ClinGen ExAC gnomAD
rs775377524 CA10464123	125	G>S		No	ClinGen ExAC TOPMed gnomAD
CA332495461 rs904257660	128	S>L		No	ClinGen Ensembl
rs189670353 CA413771120	129	A>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs189670353 CA10464125	129	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA413771163 rs1602771675	132	G>C		No	ClinGen Ensembl
TCGA novel	135	F>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10464133 rs755385702	138	I>L		No	ClinGen ExAC gnomAD
CA10464134 rs760546424	139	T>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1233744069 CA413772474	139	T>I		No	ClinGen TOPMed
rs772448310 CA10464136	145	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1189844158 CA413772587	146	T>N		No	ClinGen gnomAD
CA413772614 rs1469712731	147	L>F		No	ClinGen gnomAD
rs960559839 CA332496395	147	L>S		No	ClinGen TOPMed
rs866036392 CA332496396	150	T>A		No	ClinGen Ensembl
rs763892996 CA10464137	156	Q>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1159918016 CA413772773	156	Q>K		No	ClinGen gnomAD
CA10464138 rs201673477 COSM1126055	158	V>I	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs903817019 CA332496910	163	V>L		No	ClinGen Ensembl
CA10464144 rs761648432	165	A>E		No	ClinGen ExAC
rs761648432 CA413767983	165	A>G		No	ClinGen ExAC
CA413767982 rs1479763813	165	A>T		No	ClinGen gnomAD
rs1176302722 CA413768003	167	K>M		No	ClinGen gnomAD
CA332496911 rs1000925289	167	K>N		No	ClinGen Ensembl
CA413768001 rs1176302722	167	K>T		No	ClinGen gnomAD
rs373265700 CA10464145	168	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA413768007 rs373265700	168	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA413768031 rs1457656696	171	T>A		No	ClinGen TOPMed
TCGA novel	172	S>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA413768050 rs1166452268	173	Q>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs761037702 CA10464147	173	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA10464148 rs766725192	175	I>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA332496914 rs1037876555	178	A>G		No	ClinGen TOPMed gnomAD
CA10464149 rs753797569	178	A>S		No	ClinGen ExAC TOPMed gnomAD
rs138733914 CA10464150	185	K>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA332496915 rs750149022	187	S>I		No	ClinGen 1000Genomes
CA413768189 rs1300536695	189	E>K		No	ClinGen gnomAD
rs778942613 CA10464151	190	E>D		No	ClinGen ExAC TOPMed gnomAD
CA413768203 rs1420332200	190	E>G		No	ClinGen TOPMed
TCGA novel	191	S>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA413768206 rs1268187738	191	S>T		No	ClinGen gnomAD
rs961322066 CA332496916	192	L>P		No	ClinGen Ensembl
rs865968849 CA332496917	194	K>E		No	ClinGen Ensembl
CA10464152 rs201017526	195	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1249388180 CA413768249	196	K>E		No	ClinGen TOPMed gnomAD
rs1293508812	199	T>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	199	T>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10464162 rs771986273	202	G>E		No	ClinGen ExAC TOPMed gnomAD
rs1249387387 CA413768311	202	G>R		No	ClinGen TOPMed gnomAD
TCGA novel	206	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs776934666 CA10464166	206	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed
CA10464167 rs200736988	207	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA413768343 rs1228800892	207	I>V		No	ClinGen gnomAD
CA10464168 rs765402295	210	P>S		No	ClinGen ExAC gnomAD
CA332496935 rs199654921	214	T>A		No	ClinGen gnomAD
rs753143417 CA413768398	215	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs1316029741 CA413768394	215	H>Y		No	ClinGen TOPMed
CA10464170 rs758963549	216	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1467725373 CA413768424	219	H>R		No	ClinGen TOPMed
rs1302220268 CA413768422	219	H>Y		No	ClinGen TOPMed
rs764595179 CA10464171	225	T>A		No	ClinGen ExAC
rs1602791745 CA413768480	228	S>G		No	ClinGen Ensembl
TCGA novel	230	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs769840160 CA10464172	230	E>G		No	ClinGen 1000Genomes ExAC gnomAD
rs779518995 CA10464174	238	T>N		No	ClinGen ExAC gnomAD
CA413768583 rs1425067112	241	A>S		No	ClinGen gnomAD
CA10464184 rs183377356	242	T>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	242	T>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1411161455 CA413768592	243	Q>K		No	ClinGen gnomAD
rs1457694192 CA413768607	244	F>L		No	ClinGen TOPMed gnomAD
rs1322378534 CA413768617	245	M>I		No	ClinGen gnomAD
CA332498043 rs745946464	247	D>E		No	ClinGen 1000Genomes
CA10464185 rs765221837	247	D>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs187691211 CA10464186	250	L>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10464187 rs763022623	251	M>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1381564937 CA413768661	252	D>G		No	ClinGen gnomAD
rs868166768 CA332498044	253	H>N		No	ClinGen Ensembl
rs1287743575 CA413768672 CA413768673	254	G>R		No	ClinGen TOPMed gnomAD
CA413768701 rs1230741681	258	P>A		No	ClinGen TOPMed gnomAD
CA332498045 rs1022267229	258	P>L		No	ClinGen TOPMed
TCGA novel	259	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1458831407 CA413768718	260	D>V		No	ClinGen Ensembl
rs752079533 CA10464190	261	I>R		No	ClinGen ExAC gnomAD
CA10464189 rs752079533	261	I>T		No	ClinGen ExAC gnomAD
CA413768722 rs1180137667	261	I>V		No	ClinGen TOPMed gnomAD
TCGA novel	264	Y>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10464191 rs767964044	266	T>N		No	ClinGen ExAC TOPMed gnomAD
CA413768774 rs1483994581	268	S>N		No	ClinGen TOPMed gnomAD

No associated diseases with Q6UXV4

1 regional properties for Q6UXV4

Type	Name	Position	InterPro Accession
domain	GPCR, rhodopsin-like, 7TM	84 - 543	IPR017452

Functions

		Description
EC Number
Subcellular Localization	Mitochondrion inner membrane ; Multi-pass membrane protein Mitochondrion
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

8 GO annotations of cellular component

Name	Definition
extracellular region	The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite.
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.
MICOS complex	Mitochondrial inner membrane complex involved in maintenance of crista junctions, inner membrane architecture, and formation of contact sites to the outer membrane. In Saccharomyces cerevisiae the complex has six subunits: MIC10, MIC12, MIC19, MIC26, MIC27, and MIC60.
mitochondrial crista junction	A tubular structure of relatively uniform size that connects a mitochondrial crista to the mitochondrial inner boundary membrane.
mitochondrial inner membrane	The inner, i.e. lumen-facing, lipid bilayer of the mitochondrial envelope. It is highly folded to form cristae.
mitochondrion	A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration.
platelet alpha granule lumen	The volume enclosed by the membrane of the platelet alpha granule.
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

2 GO annotations of biological process

Name	Definition
cristae formation	The assembly of cristae, the inwards folds of the inner mitochondrial membrane.
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.

2 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q3SZ27	APOL	MICOS complex subunit MIC27	Bos taurus (Bovine)	PR
Q9BUR5	APOO	MICOS complex subunit MIC26	Homo sapiens (Human)	PR

10	20	30	40	50	60
MAAIRMGKLT	TMPAGLIYAS	VSVHAAKQEE	SKKQLVKPEQ	LPIYTAPPLQ	SKYVEEQPGH
70	80	90	100	110	120
LQMGFASIRT	ATGCYIGWCK	GVYVFVKNGI	MDTVQFGKDA	YVYLKNPPRD	FLPKMGVITV
130	140	150	160	170	180
SGLAGLVSAR	KGSKFKKITY	PLGLATLGAT	VCYPVQSVII	AKVTAKKVYA	TSQQIFGAVK
190	200	210	220	230	240
SLWTKSSKEE	SLPKPKEKTK	LGSSSEIEVP	AKTTHVLKHS	VPLPTELSSE	AKTKSESTSG
250	260
ATQFMPDPKL	MDHGQSHPED	IDMYSTRS