AiPD: Autoinhibited Protein Database

Q8N183

Gene name	NDUFAF2 (NDUFA12L)
Protein name	NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 2
Names	B17.2-like, B17.2L, Mimitin, Myc-induced mitochondrial protein, MMTN, NDUFA12-like protein
Species	Homo sapiens (Human)
KEGG Pathway	hsa:91942
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

91-169 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

91-169 (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 Q8N183

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q8N183-F1	Predicted				AlphaFoldDB

160 variants for Q8N183

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1554076306 RCV000590857	1	M>L	Mitochondrial complex 1 deficiency, nuclear type 10 [ClinVar]	Yes	ClinVar dbSNP
RCV000590851 rs1554076309 CA359935468	3	W>*	Mitochondrial complex 1 deficiency, nuclear type 10 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
VAR_081422	3	W>del	MC1DN10 [UniProt]	Yes	UniProt
CA359935477 RCV000674445 rs772489808	5	Q>*	Variant assessed as Somatic; 0.0 impact. Cockayne syndrome type 1 [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD
RCV000383048 rs886060726 CA10624863 RCV000326140 RCV000668467	6	D>E	Leigh syndrome Mitochondrial complex I deficiency Cockayne syndrome type 1 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV002517239 CA319845 RCV000195504 rs753215899	27	Q>L	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000386723 CA3278067 rs779872068 RCV000294764	33	Y>C	Leigh syndrome Mitochondrial complex I deficiency, nuclear type 1 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs773988847 CA3278070 RCV001156249 RCV001156250	34	Y>H	Leigh syndrome Mitochondrial complex I deficiency, nuclear type 1 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs1554076324 RCV000001662	35	I>missing	Mitochondrial complex 1 deficiency, nuclear type 10 [ClinVar]	Yes	ClinVar dbSNP
rs1554076325 RCV000674171 CA359935682	37	Q>*	Cockayne syndrome type 1 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000674200 RCV000590864 RCV000485122 rs199754807 CA3278074 RCV001335554 RCV000780529	38	Y>*	Mitochondrial complex 1 deficiency, nuclear type 10 Mitochondrial complex I deficiency, nuclear type 1 Cockayne syndrome type 1 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
VAR_081423	38	Y>del	MC1DN10; patient cells homozygous for the variant do not express detectable amounts of protein; complex I assembly is altered and activity is severely reduced in patient cells compared to control [UniProt]	Yes	UniProt
RCV001264587 rs1752321639	44	Q>missing	Leigh syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV000197862 CA322323 RCV001157922 RCV002515408 rs775605330 RCV001157923	44	Q>P	Leigh syndrome Mitochondrial complex I deficiency, nuclear type 1 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1752321893 RCV001157924 RCV001157925	46	I>V	Leigh syndrome Mitochondrial complex I deficiency, nuclear type 1 [ClinVar]	Yes	ClinVar dbSNP
RCV000779476 RCV001582459 RCV000624428 CA115096 RCV000001661 RCV000679870 RCV000781647 COSM1671669 rs137852863	47	R>*	Leigh syndrome Variant assessed as Somatic; 0.0 impact. large_intestine Mitochondrial complex 1 deficiency, nuclear type 10 Mitochondrial complex I deficiency, nuclear type 1 Inborn genetic diseases Leigh syndrome (ls) [ClinVar, NCI-TCGA, Cosmic, Ensembl]	Yes	ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
VAR_081424	47	R>del	MC1DN10 [UniProt]	Yes	UniProt
CA324418 RCV000199863 RCV002515409 rs750914742	56	N>S	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000336991 rs769579395 RCV000298358 CA3278128	66	D>H	Leigh syndrome Mitochondrial complex I deficiency, nuclear type 1 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA3278149 RCV000587093 RCV001557146 rs772294726 RCV002497240	74	W>*	Leigh syndrome Mitochondrial complex 1 deficiency, nuclear type 10 Leigh syndrome (ls) [ClinVar, Ensembl]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA3278195 RCV000302238 RCV000400065 rs770172045 CA359936402	138	F>L	Leigh syndrome Mitochondrial complex I deficiency, nuclear type 1 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000359308 RCV001861260 CA3278196 RCV000266885 rs749677218	141	E>V	Leigh syndrome Mitochondrial complex I deficiency, nuclear type 1 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA3278200 RCV001152463 rs9885480 RCV000602804 RCV000585479 RCV001153733	151	G>S	Leigh syndrome Mitochondrial complex I deficiency, nuclear type 1 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs753595274 RCV000779477 RCV000478282	164	G>missing	NDUFAF2-Related Disorders [ClinVar]	Yes	ClinVar dbSNP
CA359935460 rs1430192510	2	G>A		No	ClinGen TOPMed gnomAD
CA119536191 rs866458871	2	G>C		No	ClinGen TOPMed gnomAD
CA119536189 rs866458871	2	G>R		No	ClinGen TOPMed gnomAD
CA359935458 rs866458871	2	G>S		No	ClinGen TOPMed gnomAD
rs772489808 CA3278046	5	Q>E		No	ClinGen ExAC gnomAD
CA3278047 rs777941497	5	Q>H		No	ClinGen ExAC gnomAD
rs1294359960 CA359935479	5	Q>P		No	ClinGen gnomAD
TCGA novel	5	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs745588302 CA3278048	8	F>L		No	ClinGen ExAC gnomAD
CA3278049 rs769323668	9	R>C		No	ClinGen ExAC gnomAD
CA3278050 rs775103568	10	A>T		No	ClinGen ExAC gnomAD
rs374346406 CA3278051	11	L>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA359935531 rs368446242	13	R>K		No	ClinGen ESP ExAC gnomAD
CA3278052 rs368446242	13	R>T		No	ClinGen ESP ExAC gnomAD
TCGA novel	14	S>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs761787794 CA3278054	14	S>L		No	ClinGen ExAC TOPMed gnomAD
rs774438381 CA3278053	14	S>P		No	ClinGen ExAC gnomAD
rs1337496037 CA359935541	15	L>P		No	ClinGen gnomAD
rs772879291 CA3278056	17	R>G		No	ClinGen ExAC TOPMed gnomAD
rs141492697 CA119536208	17	R>K		No	ClinGen ESP
CA3278057 rs760999419	18	E>D		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	20	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs158921 CA359935575	20	K>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1440955854 CA359935572	20	K>R		No	ClinGen TOPMed
rs755078834 CA3278060	21	E>A		No	ClinGen ExAC TOPMed gnomAD
rs755078834 CA3278059	21	E>G		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	21	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA359935584 rs1439697276	22	H>Y		No	ClinGen TOPMed
rs1467779605 CA359935591	23	V>L		No	ClinGen TOPMed gnomAD
rs1467779605 CA359935590	23	V>M		No	ClinGen TOPMed gnomAD
CA359935599 rs1248004309	24	G>D		No	ClinGen gnomAD
rs1199099812 CA359935596	24	G>S		No	ClinGen gnomAD
CA359935607 rs1474133948	25	T>M		No	ClinGen gnomAD
CA359935618 rs1554076318 RCV000578640	27	Q>*		No	ClinGen ClinVar Ensembl dbSNP
rs753215899 CA3278062	27	Q>P		No	ClinGen ExAC TOPMed gnomAD
rs1580059779 CA359935629	28	F>L		No	ClinGen Ensembl
CA119536222 rs778263229	29	G>R		No	ClinGen ExAC TOPMed gnomAD
CA3278064 rs778263229	29	G>W		No	ClinGen ExAC TOPMed gnomAD
rs1430094821 CA359935655	32	Y>*		No	ClinGen gnomAD
rs755836979 CA3278066	32	Y>C		No	ClinGen ExAC gnomAD
CA119536228 rs1040183033	32	Y>D		No	ClinGen TOPMed gnomAD
rs1040183033 CA359935651	32	Y>H		No	ClinGen TOPMed gnomAD
rs748885030 CA3278069	33	Y>*		No	ClinGen ExAC gnomAD
rs748188210 CA3278071	35	I>L		No	ClinGen ExAC TOPMed gnomAD
CA119536244 rs984636588	36	P>S		No	ClinGen Ensembl
CA119536247 rs144006692	37	Q>L		No	ClinGen ESP TOPMed gnomAD
CA359935684 rs144006692	37	Q>R		No	ClinGen ESP TOPMed gnomAD
TCGA novel	38	Y>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3278075 rs766160147	39	K>M		No	ClinGen ExAC gnomAD
TCGA novel	39	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs376747316 CA359935707	40	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs776841247 CA3278076	40	N>S		No	ClinGen ExAC gnomAD
rs1234905067 CA359935702	40	N>Y		No	ClinGen TOPMed
rs1561523202 CA359935715	41	W>C		No	ClinGen Ensembl
rs775605330 CA359935843	44	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs763179948 CA3278116	45	T>I		No	ClinGen ExAC gnomAD
rs1226560605 CA359935855	46	I>S		No	ClinGen TOPMed
rs762449995 RCV000199750 CA324301	47	R>Q		No	ClinGen ClinVar ExAC dbSNP gnomAD
CA359935861 rs1378667377	48	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1031796945 CA119569323	49	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs768120714 CA3278118	51	I>V		No	ClinGen ExAC TOPMed
CA119569324 rs915563763	52	V>I		No	ClinGen TOPMed
rs557660554 CA3278119	59	E>*		No	ClinGen 1000Genomes ExAC gnomAD
CA3278120 rs766786517	61	D>A		No	ClinGen ExAC TOPMed gnomAD
CA359935955 rs766786517	61	D>V		No	ClinGen ExAC TOPMed gnomAD
CA3278123 rs777211630	62	Y>C		No	ClinGen ExAC gnomAD
rs758053501 CA3278122	62	Y>D		No	ClinGen ExAC TOPMed gnomAD
rs1267434222 CA359935987	66	D>E		No	ClinGen TOPMed
CA3278129 rs779886919	66	D>G		No	ClinGen ExAC gnomAD
rs769579395 CA119569326	66	D>N		No	ClinGen ExAC TOPMed gnomAD
rs749541428 CA3278130	69	T>I		No	ClinGen ExAC gnomAD
rs1421390594 CA359936011	70	E>G		No	ClinGen TOPMed gnomAD
CA320563 rs768892194	71	W>R		No	ClinGen ExAC TOPMed gnomAD
rs774343066 CA3278131	73	A>T		No	ClinGen ExAC TOPMed gnomAD
CA359937172 rs1352738477	78	T>A		No	ClinGen TOPMed gnomAD
CA3278153 rs747582929	78	T>R		No	ClinGen ExAC TOPMed
CA359937203 rs1283656229	83	P>A		No	ClinGen TOPMed
rs1239763692 CA359937206	83	P>H		No	ClinGen TOPMed
CA359937208 rs1239763692	83	P>L		No	ClinGen TOPMed
CA3278155 rs776904973	85	M>I		No	ClinGen ExAC gnomAD
CA3278154 rs771433967	85	M>V		No	ClinGen ExAC TOPMed gnomAD
rs759967471 CA3278156	86	E>K		No	ClinGen ExAC gnomAD
rs1327870556 CA359936053	88	I>L		No	ClinGen TOPMed
CA3278174 rs781737888	88	I>T		No	ClinGen ExAC TOPMed gnomAD
rs746292576 CA3278175	90	K>Q		No	ClinGen ExAC TOPMed gnomAD
rs770205548 CA3278176	91	N>I		No	ClinGen ExAC gnomAD
CA359936099 rs1338638481	94	H>L		No	ClinGen TOPMed
CA359936109 rs1209299036	96	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA3278178 rs527366210	97	E>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1166273303 CA359936143	100	I>T		No	ClinGen TOPMed
rs771692093 CA3278179	101	K>E		No	ClinGen ExAC gnomAD
rs1379306871 CA359936163	103	Q>*		No	ClinGen gnomAD
CA3278180 rs772803188	103	Q>H		No	ClinGen ExAC gnomAD
rs530506737 CA3278181	104	D>H		No	ClinGen ExAC gnomAD
TCGA novel	104	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs530506737 CA119582100	104	D>Y		No	ClinGen ExAC gnomAD
TCGA novel	105	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs765744603 CA3278183	107	E>Q		No	ClinGen ExAC gnomAD
CA359936234 rs1445036818	113	S>G		No	ClinGen gnomAD
CA3278184 rs377746451	113	S>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA359936237 rs377746451	113	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1377961254 CA359936242	114	K>E		No	ClinGen gnomAD
CA119582112 rs560683253	123	P>L		No	ClinGen 1000Genomes
rs765188308 CA3278186	123	P>T		No	ClinGen ExAC gnomAD
rs752505537 CA3278187	124	P>S		No	ClinGen ExAC gnomAD
CA359936314 rs1196538331	125	V>F		No	ClinGen gnomAD
rs778159499 CA3278189	127	T>I		No	ClinGen ExAC gnomAD
rs760647945 RCV000198027	129	I>missing		No	ClinVar dbSNP
rs1244524991 CA359936344	129	I>N		No	ClinGen TOPMed gnomAD
rs1477399802 CA359936359	131	G>D		No	ClinGen gnomAD
CA3278191 rs140013526	134	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs992697884 CA119582120	134	S>P		No	ClinGen TOPMed
rs201187582 CA3278192	135	A>T		No	ClinGen 1000Genomes ExAC gnomAD
CA3278193 rs373327649	138	F>V		No	ClinGen ESP ExAC gnomAD
CA359936417 rs1467428339	141	E>K		No	ClinGen gnomAD
rs1326916757 CA359936431	142	E>D		No	ClinGen TOPMed
rs1437284986 CA359936436	143	P>L		No	ClinGen gnomAD
CA119582132 rs967126073	143	P>T		No	ClinGen TOPMed
TCGA novel	144	S>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1276627263 CA359936444	145	V>M		No	ClinGen TOPMed gnomAD
CA3278198 rs772860405	148	S>G		No	ClinGen ExAC gnomAD
CA119582137 rs936287273	148	S>N		No	ClinGen gnomAD
rs1257232668 CA359936469	149	S>C		No	ClinGen gnomAD
CA3278201 rs770536267	152	K>R		No	ClinGen ExAC gnomAD
rs1477153837 CA359936518	156	P>Q		No	ClinGen gnomAD
RCV000598761 rs1231742714	156	P>missing		No	ClinVar dbSNP
TCGA novel	159	W>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3278203 rs765241458	162	R>*		No	ClinGen ExAC gnomAD
CA3278204 rs374701660	162	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
RCV000199100 rs374701660 CA323638	162	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
CA3278206 rs763914930	164	G>S		No	ClinGen ExAC gnomAD
rs1390304521 CA359936592	167	H>R		No	ClinGen gnomAD
rs552253221 CA3278210	168	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs552253221 CA3278209	168	N>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs371236767 CA3278208	168	N>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA119582157 rs148637794	169	Q>E		No	ClinGen ESP gnomAD

1 associated diseases with Q8N183

[MIM: 618233]: Mitochondrial complex I deficiency, nuclear type 10 (MC1DN10)

A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. MC1DN10 transmission pattern is consistent with autosomal recessive inheritance. {ECO:0000269|PubMed:16200211, ECO:0000269|PubMed:18180188, ECO:0000269|PubMed:19384974, ECO:0000269|PubMed:20571988}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. MC1DN10 transmission pattern is consistent with autosomal recessive inheritance. {ECO:0000269|PubMed:16200211, ECO:0000269|PubMed:18180188, ECO:0000269|PubMed:19384974, ECO:0000269|PubMed:20571988}. Note=The disease is caused by variants affecting the gene represented in this entry.

No regional properties for Q8N183

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for Q8N183

Functions

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

2 GO annotations of cellular component

Name	Definition
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.

1 GO annotations of molecular function

Name	Definition
protein-containing complex binding	Binding to a macromolecular complex.

2 GO annotations of biological process

Name	Definition
mitochondrial respiratory chain complex I assembly	The aggregation, arrangement and bonding together of a set of components to form mitochondrial respiratory chain complex I.
negative regulation of insulin secretion involved in cellular response to glucose stimulus	Any process that decreases the frequency, rate or extent of the regulated release of insulin that contributes to the response of a cell to glucose.

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q32P65	NDUFAF2	NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 2	Bos taurus (Bovine)	PR

10	20	30	40	50	60
MGWSQDLFRA	LWRSLSREVK	EHVGTDQFGN	KYYYIPQYKN	WRGQTIREKR	IVEAANKKEV
70	80	90	100	110	120
DYEAGDIPTE	WEAWIRRTRK	TPPTMEEILK	NEKHREEIKI	KSQDFYEKEK	LLSKETSEEL
130	140	150	160
LPPPVQTQIK	GHASAPYFGK	EEPSVAPSST	GKTFQPGSWM	PRDGKSHNQ