AiPD: Autoinhibited Protein Database

Q9BUR5

Gene name	APOO
Protein name	MICOS complex subunit MIC26
Names	Apolipoprotein O, MICOS complex subunit MIC23, Protein FAM121B
Species	Homo sapiens (Human)
KEGG Pathway	hsa:79135
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-92 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-92 (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 Q9BUR5

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q9BUR5-F1	Predicted				AlphaFoldDB

132 variants for Q9BUR5

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1373428884 CA412590560 CA412590559	2	F>L		No	ClinGen TOPMed gnomAD
rs746341693 CA10370225	2	F>L		No	ClinGen ExAC gnomAD
rs1178487551 CA412590557	3	K>E		No	ClinGen TOPMed gnomAD
rs779439514 CA10370224 CA412590552	3	K>N		No	ClinGen ExAC gnomAD
rs1178487551 CA412590558	3	K>Q		No	ClinGen TOPMed gnomAD
rs1441379176 CA412590222	8	S>F		No	ClinGen gnomAD
CA10370211 rs760203325	9	V>L		No	ClinGen ExAC TOPMed gnomAD
rs760203325 CA10370210	9	V>M		No	ClinGen ExAC TOPMed gnomAD
rs775228231 CA10370209	10	G>E		No	ClinGen ExAC gnomAD
rs145969741 CA10370208	12	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs145969741 CA412590201	12	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs867988889 CA327666328	13	S>N		No	ClinGen gnomAD
rs1332210902 CA412590194	13	S>R		No	ClinGen gnomAD
CA10370207 rs200861085	15	S>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA327666327 rs142397778	15	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA327666326 rs997987273	16	L>S		No	ClinGen TOPMed
rs778448830 CA10370202	19	F>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10370203 rs137876219	19	F>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA412590153 rs1455539263	20	K>R		No	ClinGen gnomAD
CA412590140 rs1326650969	22	Y>C		No	ClinGen gnomAD
rs752839065 CA10370201	22	Y>N		No	ClinGen ExAC
CA412590121 rs1392516908	25	P>R		No	ClinGen gnomAD
CA327666325 rs895600235	25	P>S		No	ClinGen gnomAD
TCGA novel	27	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs758122885 CA10370199	30	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1375144328 CA412590061	34	S>P		No	ClinGen gnomAD
rs149224639 CA10370196	35	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA327666323 rs898805201	36	K>N		No	ClinGen TOPMed gnomAD
CA412590041 rs1194924421	37	V>A		No	ClinGen gnomAD
CA10370195 rs753855299	37	V>F		No	ClinGen ExAC gnomAD
rs138309366 CA10370194	39	E>K		No	ClinGen ESP ExAC
rs1322784408 CA412590010	40	L>F		No	ClinGen TOPMed
rs150456705 CA10370174	42	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA10370171 rs766709410	43	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs774016397 CA10370172	43	Y>D		No	ClinGen ExAC gnomAD
CA10370169 rs140548900	45	V>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs1232404554 CA412589968	47	E>G		No	ClinGen gnomAD
rs868511129 CA327666166	50	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA412589949 rs1222559316	50	S>P		No	ClinGen TOPMed
rs371968593 CA10370166	51	K>E		No	ClinGen ESP ExAC gnomAD
rs1330211920 CA412589933	52	Y>C		No	ClinGen TOPMed
rs1240835837 CA412589908	56	A>T		No	ClinGen TOPMed
TCGA novel	60	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs868494655 CA327666165	63	S>I		No	ClinGen gnomAD
rs979506043 CA327666164	64	I>F		No	ClinGen Ensembl
rs1187573563 CA412589828	67	L>F		No	ClinGen TOPMed
rs969032515 CA327666163	68	R>Q		No	ClinGen Ensembl
rs1401937457 CA412589820	69	H>N		No	ClinGen gnomAD
rs199760059 CA10370163	71	C>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1408505402 CA412589794	72	E>G		No	ClinGen TOPMed
rs182125234 CA10370162	72	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10370161 rs191045469	74	Y>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10370160 rs757259211	75	T>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs756017165 CA10370159	76	T>S		No	ClinGen ExAC gnomAD
CA412589754 rs1259370923	78	C>F		No	ClinGen gnomAD
CA10370158 rs752608145	78	C>R		No	ClinGen ExAC gnomAD
CA10370142 rs769499730	80	E>D		No	ClinGen ExAC gnomAD
CA10370141 rs748097340 COSM305972	81	T>M	lung haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA10370139 rs754478339	84	Q>P		No	ClinGen ExAC gnomAD
CA327665787 rs966841857	89	M>L		No	ClinGen Ensembl
rs751126282 CA10370138	90	Q>E		No	ClinGen ExAC gnomAD
CA10370137 rs779552153	90	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA412588724 rs1261769493	93	V>F		No	ClinGen TOPMed
TCGA novel	95	W>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs757978777 CA10370136	96	G>R		No	ClinGen ExAC gnomAD
CA327665786 rs866052403	96	G>V		No	ClinGen Ensembl
CA412588649 rs1275329087	97	L>F		No	ClinGen gnomAD
CA412587731 rs1271863125	98	D>E		No	ClinGen gnomAD
rs1255069164 CA412587721	99	S>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1219687738 CA412587716	100	Y>H		No	ClinGen TOPMed gnomAD
rs768521438 CA10370119	102	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA10370120 rs768521438	102	Y>S		No	ClinGen ExAC TOPMed gnomAD
rs1274167613 CA412587675	103	L>V		No	ClinGen TOPMed gnomAD
rs1340618914 CA412587624	107	P>S		No	ClinGen gnomAD
rs768859557 CA10370117	109	G>R		No	ClinGen ExAC gnomAD
CA10370116 rs200271508	109	G>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10370114 rs769784742	112	P>L		No	ClinGen 1000Genomes ExAC gnomAD
rs769784742 CA10370115	112	P>Q		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	114	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA327665340 rs372937215	115	G>C		No	ClinGen ESP
CA10370112 rs754095247	116	V>A		No	ClinGen ExAC gnomAD
rs1156282150 CA412587527	116	V>I		No	ClinGen TOPMed
CA412587508 rs1277689417	117	I>M		No	ClinGen gnomAD
rs1330638852 CA412587494	119	F>L		No	ClinGen TOPMed gnomAD
CA327665339 rs1030700096	121	G>A		No	ClinGen TOPMed gnomAD
rs756652973 CA10370110	123	I>V		No	ClinGen ExAC gnomAD
rs1322310170 CA412587423	125	L>P		No	ClinGen TOPMed
CA10370109 rs748623374	128	A>T		No	ClinGen 1000Genomes ExAC gnomAD
CA327664447 rs746077713	134	K>R		No	ClinGen Ensembl
rs200622657 CA327664446	137	V>M		No	ClinGen Ensembl
COSM3560475 rs369973145 CA10370096	139	P>L	Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA412585857 rs1350592965	139	P>S		No	ClinGen TOPMed
rs756796573 CA10370095	141	G>A		No	ClinGen ExAC gnomAD
CA412585820 rs1408923895	142	F>V		No	ClinGen TOPMed gnomAD
CA412585805 rs1179198181	143	M>V		No	ClinGen gnomAD
CA412585783 rs377243454	144	G>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA10370094 rs377243454	144	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA10370093 rs778237433	145	L>I		No	ClinGen ExAC gnomAD
rs1219731218 CA412585772	145	L>S		No	ClinGen TOPMed
rs756595892 CA10370092	147	A>V		No	ClinGen ExAC gnomAD
rs373225462 CA10370091	148	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA327664445 rs373225462	148	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA10370090 rs373225462	148	S>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA412585700 rs1208795156	150	Y>C		No	ClinGen gnomAD
rs147913865 CA10370087	154	Q>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10370085 rs373029808	157	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA10370084 rs763850598	159	A>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	160	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1042351843 CA327664444	160	Q>R		No	ClinGen gnomAD
TCGA novel	162	S>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs759130534 CA327664301	164	E>*		No	ClinGen 1000Genomes ExAC gnomAD
rs759130534 CA10370066	164	E>K		No	ClinGen 1000Genomes ExAC gnomAD
rs767818111 CA327664300	166	L>F		No	ClinGen Ensembl
CA10370065 RCV000961791 rs75916244	166	L>V		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA10370063 rs752425092	172	R>*		No	ClinGen ExAC gnomAD
CA10370062 rs142355722	172	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	173	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs781675242 CA10370061	173	G>R		No	ClinGen ExAC gnomAD
rs774399318 CA10370060	174	Y>C		No	ClinGen ExAC gnomAD
rs770317076 CA10370059	175	I>V		No	ClinGen ExAC gnomAD
CA412590438 rs1418432046	176	V>I		No	ClinGen TOPMed
CA412590430 rs1182381423	177	I>T		No	ClinGen TOPMed
rs755451321 CA10370058	179	D>G		No	ClinGen ExAC TOPMed gnomAD
rs1333833563 CA412590411	180	L>V		No	ClinGen TOPMed gnomAD
rs1172747969 CA412590389	182	K>N		No	ClinGen TOPMed
CA327664299 rs969409759	183	E>K		No	ClinGen TOPMed
CA412590381 rs1435558569	184	N>D		No	ClinGen TOPMed
CA10370057 rs772988801	186	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA327664298 rs267606421	187	K>N		No	ClinGen Ensembl
CA10370044 rs757432410	189	G>E		No	ClinGen ExAC gnomAD
CA412590333 rs1266277942	189	G>R		No	ClinGen gnomAD
rs908435383 CA327663007	197	T>A		No	ClinGen TOPMed

No associated diseases with Q9BUR5

2 regional properties for Q9BUR5

Type	Name	Position	InterPro Accession
domain	Olfactomedin-like domain	226 - 478	IPR003112
domain	Noelin domain	55 - 152	IPR022082

Functions

		Description
EC Number
Subcellular Localization	Mitochondrion inner membrane ; Single-pass membrane protein Secreted Mitochondrion Golgi apparatus membrane Endoplasmic reticulum membrane	Exists in three distinct forms: a glycosylated and secreted form, an ER/Golgi-resident form and a non-glycosylated mitochondrial form
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

15 GO annotations of cellular component

Name	Definition
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
endoplasmic reticulum membrane	The lipid bilayer surrounding the endoplasmic reticulum.
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.
extracellular space	That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid.
Golgi membrane	The lipid bilayer surrounding any of the compartments of the Golgi apparatus.
high-density lipoprotein particle	A lipoprotein particle with a high density (typically 1.063-1.21 g/ml) and a diameter of 5-10 nm that contains APOAs and may contain APOCs and APOE; found in blood and carries lipids from body tissues to the liver as part of the reverse cholesterol transport process.
integral component of mitochondrial inner membrane	The component of the mitochondrial inner membrane consisting of the gene products having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
low-density lipoprotein particle	A lipoprotein particle, rich in cholesterol esters and low in triglycerides that is typically composed of APOB100 and APOE and has a density of 1.02-1.06 g/ml and a diameter of between 20-25 nm. LDL particles are formed from VLDL particles (via IDL) by the loss of triglyceride and gain of cholesterol ester. They transport endogenous cholesterol (and to some extent triglycerides) from peripheral tissues back to the liver.
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.
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.
very-low-density lipoprotein particle	A triglyceride-rich lipoprotein particle that is typically composed of APOB100, APOE and APOCs and has a density of about 1.006 g/ml and a diameter of between 20-80 nm. It is found in blood and transports endogenous products (newly synthesized cholesterol and triglycerides) from the liver.

No GO annotations of molecular function

Name	Definition
No GO annotations for molecular function

3 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.
lipid transport	The directed movement of lipids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Lipids are compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent.

2 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q3SZ27	APOL	MICOS complex subunit MIC27	Bos taurus (Bovine)	PR
Q6UXV4	APOOL	MICOS complex subunit MIC27	Homo sapiens (Human)	PR

10	20	30	40	50	60
MFKVIQRSVG	PASLSLLTFK	VYAAPKKDSP	PKNSVKVDEL	SLYSVPEGQS	KYVEEARSQL
70	80	90	100	110	120
EESISQLRHY	CEPYTTWCQE	TYSQTKPKMQ	SLVQWGLDSY	DYLQNAPPGF	FPRLGVIGFA
130	140	150	160	170	180
GLIGLLLARG	SKIKKLVYPP	GFMGLAASLY	YPQQAIVFAQ	VSGERLYDWG	LRGYIVIEDL
190
WKENFQKPGN	VKNSPGTK