AiPD: Autoinhibited Protein Database

Q9H5X1

Gene name	CIAO2A
Protein name	Cytosolic iron-sulfur assembly component 2A
Names	MIP18 family protein FAM96A
Species	Homo sapiens (Human)
KEGG Pathway	hsa:84191
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-64 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-64 (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

4 structures for Q9H5X1

Entry ID	Method	Resolution	Chain	Position	Source
2M5H	NMR	-	A	28-160	PDB
3UX2	X-ray	180 A	A	31-157	PDB
3UX3	X-ray	180 A	A/B	31-157	PDB
AF-Q9H5X1-F1	Predicted				AlphaFoldDB

136 variants for Q9H5X1

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs200860299 CA7607512	2	Q>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7607511 rs767557369	2	Q>H		No	ClinGen ExAC gnomAD
rs200860299 CA392813735	2	Q>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1465166470 CA392813727	2	Q>R		No	ClinGen TOPMed
rs969052158 CA272159612	3	R>P		No	ClinGen TOPMed gnomAD
rs1200894779 CA392813694	5	S>F		No	ClinGen gnomAD
rs1426842855 CA392813689	6	G>R		No	ClinGen TOPMed
rs1322707426 CA392813683	6	G>V		No	ClinGen gnomAD
rs1348967480 CA392813677	7	L>R		No	ClinGen gnomAD
rs1053384259 CA272159594	7	L>V		No	ClinGen TOPMed gnomAD
rs763370623 CA7607507	8	L>P		No	ClinGen ExAC gnomAD
rs1311786888 CA392813656	9	S>F		No	ClinGen gnomAD
rs527305764 CA7607505	10	W>G		No	ClinGen ExAC TOPMed
rs527305764 CA7607504	10	W>R		No	ClinGen ExAC TOPMed
CA272159568 rs148627319	11	T>M		No	ClinGen ESP TOPMed gnomAD
rs143270896 CA7607502	11	T>S		No	ClinGen ESP ExAC gnomAD
CA7607500 rs745787463	12	L>P		No	ClinGen ExAC gnomAD
rs774316860 CA7607499	13	S>N		No	ClinGen ExAC gnomAD
CA7607498 rs770872832	14	R>G		No	ClinGen ExAC TOPMed gnomAD
CA7607496 rs373353175	16	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs373353175 CA7607497	16	L>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1030800323 CA272159495	17	W>*		No	ClinGen TOPMed
rs748375266 CA7607494	17	W>G		No	ClinGen ExAC TOPMed gnomAD
rs748375266 CA7607495	17	W>R		No	ClinGen ExAC TOPMed gnomAD
CA392813561 rs1262092239	20	G>D		No	ClinGen TOPMed
rs1329648887 CA392813553	21	L>R		No	ClinGen TOPMed
rs149870193 CA7607492	22	S>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA7607491 rs751720680	23	E>D		No	ClinGen ExAC gnomAD
rs1268202557 CA392813512	26	A>V		No	ClinGen TOPMed
rs1483150540 CA392813495	27	A>V		No	ClinGen gnomAD
CA392813493 rs1174584365	28	R>G		No	ClinGen TOPMed
CA272159469 rs758987507	28	R>L		No	ClinGen ExAC TOPMed gnomAD
rs758987507 CA7607489	28	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA7607487 rs765589024	30	P>H		No	ClinGen ExAC TOPMed gnomAD
CA7607488 rs765589024	30	P>L		No	ClinGen ExAC TOPMed gnomAD
CA392813465 rs1324364725	30	P>S		No	ClinGen gnomAD
rs1328091704 CA392813416	34	E>Q		No	ClinGen gnomAD
rs1343801507 CA392813391	35	E>G		No	ClinGen TOPMed
rs1296260087 CA392813379	36	K>E		No	ClinGen TOPMed gnomAD
TCGA novel	36	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA392813362 rs1395218698	37	A>V		No	ClinGen gnomAD
rs1567310873 CA392813353	38	L>P		No	ClinGen Ensembl
CA392813333 CA392813334 rs332259	39	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs960443007 CA272159446	40	V>I		No	ClinGen Ensembl
CA392812186 rs1567308602	43	L>S		No	ClinGen Ensembl
rs761466140 CA7607458	46	T>S		No	ClinGen ExAC gnomAD
rs776499715 CA7607457	47	I>L		No	ClinGen ExAC gnomAD
rs747303027 CA7607455	48	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs147426625 CA7607456	48	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs772329697 CA7607453	54	N>H		No	ClinGen ExAC gnomAD
CA392811940 rs1264277587	54	N>S		No	ClinGen TOPMed gnomAD
rs142829471 CA7607452	55	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA7607451 rs779252477	56	L>S		No	ClinGen ExAC gnomAD
rs1487739917 CA392811912	56	L>V		No	ClinGen TOPMed gnomAD
rs757810258 CA7607450	61	V>A		No	ClinGen ExAC gnomAD
CA7607448 rs778174210	63	S>L		No	ClinGen ExAC gnomAD
rs1408947075 CA392811782	64	E>K		No	ClinGen gnomAD
CA392811762 rs751259047	65	S>C		No	ClinGen ExAC TOPMed gnomAD
CA7607446 rs751259047	65	S>G		No	ClinGen ExAC TOPMed gnomAD
CA7607445 rs765841610	65	S>I		No	ClinGen ExAC gnomAD
rs757805784 CA7607444	67	V>M		No	ClinGen ExAC gnomAD
rs749970749 CA392811696	69	V>F		No	ClinGen ExAC gnomAD
rs749970749 CA7607443	69	V>I		No	ClinGen ExAC gnomAD
rs1377606064 CA392811677	70	Q>R		No	ClinGen TOPMed
rs765026006 CA7607442	71	E>V		No	ClinGen ExAC gnomAD
rs761815245 CA7607441	72	I>V		No	ClinGen ExAC gnomAD
rs1027228149 CA272155050	73	N>S		No	ClinGen TOPMed gnomAD
TCGA novel	79	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1292787403 CA392811475	80	I>T		No	ClinGen TOPMed
CA7607435 rs745890561	80	I>V		No	ClinGen ExAC TOPMed gnomAD
rs369101440 CA7607433	81	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs749860603 CA7607432	84	T>M		No	ClinGen ExAC TOPMed gnomAD
rs756509353 CA7607430	85	P>T		No	ClinGen ExAC TOPMed gnomAD
CA7607429 rs748542366	86	T>A		No	ClinGen ExAC gnomAD
CA392811355 rs1177177067	88	P>S		No	ClinGen gnomAD
CA392811359 rs1177177067	88	P>T		No	ClinGen gnomAD
rs953817117 CA272154942	89	H>P		No	ClinGen Ensembl
rs1242699131 CA392811252	93	A>G		No	ClinGen TOPMed
CA7607426 rs1242699131	93	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA7607425 rs758082475	94	T>I		No	ClinGen ExAC TOPMed gnomAD
CA392811240 rs758082475	94	T>S		No	ClinGen ExAC TOPMed gnomAD
rs770318592 CA7607410	100	L>*		No	ClinGen ExAC gnomAD
rs1461536331 CA392810415	104	L>R		No	ClinGen gnomAD
rs1174593273 CA392810410	105	Q>R		No	ClinGen gnomAD
CA272148702 COSM193588 rs1056284662	106	R>*	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA7607408 rs756598125	106	R>P		No	ClinGen ExAC gnomAD
CA272148696 rs756598125	106	R>Q		No	ClinGen ExAC gnomAD
rs1384559130 CA392810403	107	C>R		No	ClinGen gnomAD
CA7607407 rs371297121	109	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA272148692 rs1002970833	109	P>S		No	ClinGen TOPMed
CA392810365 rs778254377	112	H>L		No	ClinGen ExAC gnomAD
rs778254377 CA7607405	112	H>P		No	ClinGen ExAC gnomAD
rs778254377 CA392810366	112	H>R		No	ClinGen ExAC gnomAD
rs1424826207 CA392810358	113	K>T		No	ClinGen gnomAD
rs1400474503 CA392809733	114	L>V		No	ClinGen TOPMed
rs1238811900 CA392809662	117	Y>C		No	ClinGen TOPMed gnomAD
TCGA novel	117	Y>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	121	G>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1278664348 CA392809602	121	G>R		No	ClinGen TOPMed gnomAD
rs1309475651 CA392809596	122	T>A		No	ClinGen gnomAD
rs777431269 CA7607377	123	H>D		No	ClinGen ExAC gnomAD
CA392809587 rs1301211022	123	H>R		No	ClinGen gnomAD
rs1406620922 CA392809571	124	S>*		No	ClinGen gnomAD
CA392809557 rs1595951130	126	E>Q		No	ClinGen Ensembl
rs1391377809 CA392809513	128	D>N		No	ClinGen gnomAD
CA392809089 rs1461001144	135	D>E		No	ClinGen gnomAD
rs1388869569 CA392809088	136	K>Q		No	ClinGen TOPMed
CA392809057 rs1467688371	138	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1261529584 CA392809051	138	R>L		No	ClinGen gnomAD
CA392809010 rs1205603830	140	A>V		No	ClinGen gnomAD
CA392809000 rs578112615	141	A>G		No	ClinGen gnomAD
CA272141727 rs578112615	141	A>V		No	ClinGen gnomAD
TCGA novel	142	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1250675289 CA392808954	143	M>I		No	ClinGen gnomAD
CA7607358 rs747635711	144	E>G		No	ClinGen ExAC gnomAD
rs1328146104 CA392808910	145	N>H		No	ClinGen gnomAD
rs1298005509 CA392808891	146	P>A		No	ClinGen gnomAD
rs781146659 CA7607357	147	N>D		No	ClinGen ExAC TOPMed gnomAD
rs781146659 CA392808871	147	N>H		No	ClinGen ExAC TOPMed gnomAD
CA272141715 rs1033438183	147	N>S		No	ClinGen TOPMed gnomAD
COSM1323896 rs746761595 CA392808828	149	R>G	ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA7607353 rs779770789	149	R>P		No	ClinGen ExAC TOPMed gnomAD
CA272141671 rs779770789	149	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs746761595 CA7607354	149	R>W		No	ClinGen ExAC TOPMed gnomAD
CA392808809 rs1595949519	150	E>G		No	ClinGen Ensembl
CA392808782 rs1567303259	151	I>M		No	ClinGen Ensembl
CA392808784 rs1392591067	151	I>T		No	ClinGen gnomAD
TCGA novel	152	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7607351 rs750682279	152	V>M		No	ClinGen ExAC TOPMed gnomAD
CA272141652 rs970431544	153	E>K		No	ClinGen TOPMed gnomAD
CA392808691 rs1443066552	155	C>*		No	ClinGen gnomAD
CA392808701 rs1185718778	155	C>Y		No	ClinGen TOPMed gnomAD
rs148274950 CA7607349	159	P>A		No	ClinGen 1000Genomes ExAC gnomAD
rs199691769 CA7607348	160	D>E		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	160	D>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1414219175 CA392808571	161	D>C		No	ClinGen TOPMed

No associated diseases with Q9H5X1

1 regional properties for Q9H5X1

Type	Name	Position	InterPro Accession
domain	MIP18 family-like	39 - 109	IPR002744

Functions

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

3 GO annotations of cellular component

Name	Definition
CIA complex	The cytosolic iron-sulfur protein assembly (CIA) complex mediates the incorporation of iron-sulfur clusters into apoproteins involved in DNA metabolism and genomic integrity.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.

1 GO annotations of molecular function

Name	Definition
metal ion binding	Binding to a metal ion.

4 GO annotations of biological process

Name	Definition
chromosome segregation	The process in which genetic material, in the form of chromosomes, is organized into specific structures and then physically separated and apportioned to two or more sets. In eukaryotes, chromosome segregation begins with the condensation of chromosomes, includes chromosome separation, and ends when chromosomes have completed movement to the spindle poles.
iron-sulfur cluster assembly	The incorporation of iron and exogenous sulfur into a metallo-sulfur cluster.
protein maturation by [4Fe-4S] cluster transfer	The transfer of an assembled 4Fe-4S] cluster from a scaffold protein to an acceptor protein that contributes to the attainment of the full functional capacity of a protein.
protein maturation by iron-sulfur cluster transfer	The transfer of an assembled iron-sulfur cluster from a scaffold protein to an acceptor protein that contributes to the attainment of the full functional capacity of a protein.

4 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q3T0U7	CIAO2A	Cytosolic iron-sulfur assembly component 2A	Bos taurus (Bovine)	PR
Q9D187	Ciao2b	Cytosolic iron-sulfur assembly component 2B	Mus musculus (Mouse)	PR
Q9DCL2	Ciao2a	Cytosolic iron-sulfur assembly component 2A	Mus musculus (Mouse)	PR
Q9SR25	AEL2	Protein AE7-like 2	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MQRVSGLLSW	TLSRVLWLSG	LSEPGAARQP	RIMEEKALEV	YDLIRTIRDP	EKPNTLEELE
70	80	90	100	110	120
VVSESCVEVQ	EINEEEYLVI	IRFTPTVPHC	SLATLIGLCL	RVKLQRCLPF	KHKLEIYISE
130	140	150
GTHSTEEDIN	KQINDKERVA	AAMENPNLRE	IVEQCVLEPD