AiPD: Autoinhibited Protein Database

Q9H081

Gene name	MIS12
Protein name	Protein MIS12 homolog
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:79003
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

77-205 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

77-205 (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 Q9H081

Entry ID	Method	Resolution	Chain	Position	Source
5LSJ	X-ray	325 A	A/C	1-205	PDB
5LSK	X-ray	350 A	A	1-205	PDB
8Q5H	EM	450 A	A	1-205	PDB
AF-Q9H081-F1	Predicted				AlphaFoldDB

142 variants for Q9H081

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA287256266 rs1002312057	2	S>F		No	ClinGen TOPMed
CA287256265 rs376944532	2	S>P		No	ClinGen ESP TOPMed
rs1207797514 CA397376258	5	P>S		No	ClinGen TOPMed
CA397376267 rs1445942882	6	M>L		No	ClinGen TOPMed gnomAD
CA397376269 rs1445942882	6	M>V		No	ClinGen TOPMed gnomAD
rs1169267184 CA397376293	7	T>I		No	ClinGen gnomAD
CA397376291 rs1169267184	7	T>S		No	ClinGen gnomAD
CA8326369 rs766864209	8	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA397376328 rs1597378966	9	E>D		No	ClinGen Ensembl
rs1282394236 CA397376317	9	E>K		No	ClinGen TOPMed
CA397376345 rs1321155812	11	Q>*		No	ClinGen gnomAD
CA287256279 rs981412301	15	F>V		No	ClinGen TOPMed
rs779282693 CA8326372	16	T>M		No	ClinGen ExAC gnomAD
CA8326376 rs749432328	17	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1443142238 CA397376453	19	T>M		No	ClinGen gnomAD
CA397376458 rs1236933104	20	C>G		No	ClinGen gnomAD
rs16954781 CA8326378 VAR_034106	21	M>V		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA397376473 rs1280022722	22	L>V		No	ClinGen gnomAD
rs768369437 CA8326380	23	R>Q		No	ClinGen ExAC gnomAD
rs750739296 CA8326379	23	R>W		No	ClinGen ExAC TOPMed gnomAD
rs769506255 CA8326383	24	I>L		No	ClinGen ExAC TOPMed gnomAD
rs772994891 CA8326384	24	I>M		No	ClinGen ExAC gnomAD
rs1597379030 CA397376484	24	I>N		No	ClinGen Ensembl
CA397376495 rs368693374	26	I>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA8326386 rs527328775	26	I>M		No	ClinGen 1000Genomes ExAC gnomAD
CA397376497 rs1329199883	26	I>T		No	ClinGen gnomAD
CA8326385 rs368693374	26	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA287256328 rs931479762	30	D>H		No	ClinGen TOPMed gnomAD
CA397376540 rs1249538839	32	L>P		No	ClinGen TOPMed
rs1450868749 CA397376546	33	F>S		No	ClinGen TOPMed
CA8326388 rs147997418	35	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs767786001 CA8326389	37	Q>R		No	ClinGen ExAC gnomAD
rs1324343396 CA397376582	38	A>D		No	ClinGen gnomAD
CA397376580 rs1360074140	38	A>P		No	ClinGen TOPMed
CA8326391 rs142357871	39	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA8326393 rs754034543	40	E>G		No	ClinGen ExAC gnomAD
CA397376604 rs1200515288	41	Q>H		No	ClinGen gnomAD
rs1450317364 CA397376601	41	Q>L		No	ClinGen gnomAD
CA397376602 rs1450317364	41	Q>R		No	ClinGen gnomAD
CA397376610 rs1246976515	42	V>G		No	ClinGen gnomAD
CA397376909 rs1477304502	49	G>V		No	ClinGen gnomAD
CA287256341 rs1040419592	50	I>F		No	ClinGen TOPMed
rs1167869540 CA397376919	50	I>S		No	ClinGen gnomAD
CA397376927 rs1425783087	51	P>A		No	ClinGen TOPMed
CA8326394 rs757371131	51	P>L		No	ClinGen ExAC gnomAD
CA397376969 rs1466062441	54	D>V		No	ClinGen TOPMed gnomAD
CA397376993 rs1388270257	55	I>S		No	ClinGen gnomAD
rs779015341 CA8326395	57	P>S		No	ClinGen ExAC TOPMed gnomAD
CA397377039 rs1323989252	59	Q>E		No	ClinGen gnomAD
rs746944683 CA8326396	61	R>C		No	ClinGen ExAC TOPMed gnomAD
rs1399631486 CA397377062 COSM1215113	61	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA287256352 rs746944683	61	R>S		No	ClinGen ExAC TOPMed gnomAD
rs377259876 CA8326397	62	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs748022534 CA397377095	63	C>*		No	ClinGen ExAC TOPMed gnomAD
CA8326398 rs780855999	63	C>Y		No	ClinGen ExAC gnomAD
rs1273884354 CA397377114	65	E>A		No	ClinGen TOPMed
rs922718971 CA287256373	70	F>L		No	ClinGen Ensembl
CA8326403 rs762653873	71	M>I		No	ClinGen ExAC TOPMed gnomAD
rs773037964 CA8326402	71	M>V		No	ClinGen ExAC TOPMed gnomAD
rs377183328 CA287256386	73	G>V		No	ClinGen ESP TOPMed gnomAD
rs1490296354 CA397377245	74	H>R		No	ClinGen gnomAD
CA287256394 rs868327098	78	L>F		No	ClinGen Ensembl
rs768133805 CA8326407	78	L>P		No	ClinGen ExAC gnomAD
CA8326411 rs761072802	84	Q>R		No	ClinGen ExAC gnomAD
rs1459405734 CA397377424	86	F>Y		No	ClinGen gnomAD
CA287256423 rs564442358	89	L>V		No	ClinGen 1000Genomes
CA8326412 rs370045855	92	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs754094122 CA8326413	92	R>H		No	ClinGen ExAC gnomAD
CA8326414 rs373495090	93	I>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs200359650 CA287256431	94	P>S		No	ClinGen Ensembl
CA8326415 rs778875828	95	S>L		No	ClinGen ExAC gnomAD
rs758405466 CA8326417	96	N>I		No	ClinGen ExAC TOPMed gnomAD
CA397377614 rs1312125668	96	N>Y		No	ClinGen TOPMed gnomAD
CA397377781 rs112722370	104	C>F		No	ClinGen gnomAD
rs781337771 CA8326418	104	C>R		No	ClinGen ExAC TOPMed gnomAD
CA397377772 rs781337771	104	C>S		No	ClinGen ExAC TOPMed gnomAD
rs112722370 CA287256432 COSM144824	104	C>Y	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated gnomAD
CA8326419 rs377327376	106	E>A		No	ClinGen ESP ExAC
rs756004038 CA8326420	107	T>I		No	ClinGen ExAC TOPMed gnomAD
CA8326425 rs745439624	112	E>D		No	ClinGen ExAC gnomAD
CA397377942 rs1253464589	112	E>K		No	ClinGen TOPMed gnomAD
TCGA novel	113	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs771457555 CA8326426	113	D>N		No	ClinGen ExAC TOPMed gnomAD
rs771457555 CA397377965	113	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA397378140 rs764468542	121	I>M		No	ClinGen ExAC TOPMed gnomAD
rs761134172 CA8326428	121	I>T		No	ClinGen ExAC TOPMed gnomAD
rs1437641114 CA397378115	121	I>V		No	ClinGen TOPMed gnomAD
rs1454532147 CA397378148	122	E>Q		No	ClinGen gnomAD
CA8326430 rs776925154	123	Q>*		No	ClinGen ExAC gnomAD
rs776925154 CA397378165	123	Q>K		No	ClinGen ExAC gnomAD
rs1400178076 CA397378179	123	Q>R		No	ClinGen TOPMed gnomAD
CA8326432 rs765563921	126	E>D		No	ClinGen ExAC TOPMed
rs750598035 CA8326433	129	K>E		No	ClinGen ExAC gnomAD
CA397378389 rs1253725909	133	C>R		No	ClinGen gnomAD
rs1483987109 CA397378393	133	C>Y		No	ClinGen gnomAD
TCGA novel	134	T>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1046139106 CA287256483	134	T>S		No	ClinGen Ensembl
rs533026601 CA8326437	135	K>*		No	ClinGen 1000Genomes ExAC gnomAD
CA8326438 rs777713090	137	A>V		No	ClinGen ExAC gnomAD
rs142272148 CA8326439	138	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs756986770 CA8326440	140	A>V		No	ClinGen ExAC TOPMed gnomAD
rs745474693 CA8326442	141	E>K		No	ClinGen ExAC gnomAD
CA397378509 rs1175695407	143	E>K		No	ClinGen gnomAD
rs1375964579 CA397378557	146	K>Q		No	ClinGen TOPMed gnomAD
TCGA novel	147	I>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs771604662 CA8326443	147	I>V		No	ClinGen ExAC TOPMed gnomAD
CA397378571 rs1400152502	148	V>I		No	ClinGen gnomAD
rs774935778 CA8326444	150	A>S		No	ClinGen ExAC TOPMed gnomAD
rs373784464 CA8326445	150	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1298793723 CA397378672	153	K>R		No	ClinGen gnomAD
CA397378701 COSM3403029 rs1567618068	154	Q>R	central_nervous_system [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1001858131 CA287256517	155	T>M		No	ClinGen TOPMed gnomAD
rs1001858131 CA397378727	155	T>R		No	ClinGen TOPMed gnomAD
TCGA novel	155	T>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8326446 rs769087945	158	F>L		No	ClinGen ExAC gnomAD
TCGA novel	158	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1315920029 CA397378813	159	F>L		No	ClinGen gnomAD
CA8326447 rs375786415	161	E>K		No	ClinGen ESP ExAC gnomAD
rs1567618087 CA397378899	163	H>P		No	ClinGen Ensembl
rs773525580 CA8326450	172	S>N		No	ClinGen ExAC TOPMed gnomAD
CA397379171 rs766578174	176	E>D		No	ClinGen ExAC TOPMed gnomAD
rs751622722 CA8326454	177	S>G		No	ClinGen ExAC TOPMed gnomAD
rs755104073 CA8326455	180	S>F		No	ClinGen ExAC gnomAD
CA287256554 rs911406849	181	L>P		No	ClinGen TOPMed gnomAD
CA397379239 rs911406849	181	L>R		No	ClinGen TOPMed gnomAD
CA8326457 rs374755169	182	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA8326456 rs764180817	182	V>L		No	ClinGen ExAC gnomAD
CA8326458 rs757112998	183	Q>K		No	ClinGen ExAC gnomAD
CA8326460 rs750115812	189	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA397379441 rs1318001967	190	N>K		No	ClinGen TOPMed
rs1227235860 CA397379458	191	I>M		No	ClinGen TOPMed
CA8326461 rs182055180	191	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA397379501 rs779548037	194	N>K		No	ClinGen ExAC TOPMed gnomAD
rs1219056701 CA397379540	197	K>R		No	ClinGen TOPMed gnomAD
rs781748290 CA287256578	199	S>*		No	ClinGen ExAC TOPMed gnomAD
CA8326465 rs781748290	199	S>L		No	ClinGen ExAC TOPMed gnomAD
CA8326467 COSM981588 rs150024665	201	R>*	endometrium [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA397379603 rs1476906836	201	R>L		No	ClinGen gnomAD
COSM276072 CA397379601 rs1476906836	201	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs773390138 CA8326469	202	L>R		No	ClinGen ExAC gnomAD
CA8326470 rs374421480	203	K>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs774698051 CA8326472	205	S>P		No	ClinGen ExAC gnomAD

No associated diseases with Q9H081

No regional properties for Q9H081

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for Q9H081

Functions

		Description
EC Number
Subcellular Localization	Chromosome, centromere, kinetochore	Associated with the kinetochore
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

6 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.
kinetochore	A multisubunit complex that is located at the centromeric region of DNA and provides an attachment point for the spindle microtubules.
MIS12/MIND type complex	A multiprotein kinetochore subcomplex that binds to centromeric chromatin and forms part of the inner kinetochore. It helps to recruit outer kinetochore subunits that will bind to microtubules. In humans, it consists of MIS12, DSN1, NSL1 and PMF1.
NMS complex	A supercomplex formed by the association of two subcomplexes (known as MIND and Ndc80 in Schizosaccharomyces) with additional proteins at the kinetochores of condensed nuclear chromosomes.
nuclear MIS12/MIND complex	A multiprotein kinetochore subcomplex that binds to centromeric chromatin and forms part of the inner kinetochore of a chromosome in the nucleus. It helps to recruit outer kinetochore subunits that will bind to microtubules. Nuclear localization arises in some organisms because the nuclear envelope is not broken down during mitosis. In S. cerevisiae, it consists of at least four proteins: Mtw1p, Nnf1p, Nsl1p, and Dsn1.
nucleus	A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.

No GO annotations of molecular function

Name	Definition
No GO annotations for molecular function

6 GO annotations of biological process

Name	Definition
attachment of mitotic spindle microtubules to kinetochore	The cell cycle process in which spindle microtubules become physically associated with the proteins making up the kinetochore complex as part of mitotic metaphase plate congression.
cell division	The process resulting in division and partitioning of components of a cell to form more cells; may or may not be accompanied by the physical separation of a cell into distinct, individually membrane-bounded daughter cells.
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.
kinetochore assembly	The aggregation, arrangement and bonding together of a set of components to form the kinetochore, a multisubunit complex that is located at the centromeric region of DNA and provides an attachment point for the spindle microtubules.
mitotic sister chromatid segregation	The cell cycle process in which replicated homologous chromosomes are organized and then physically separated and apportioned to two sets during the mitotic cell cycle. Each replicated chromosome, composed of two sister chromatids, aligns at the cell equator, paired with its homologous partner. One homolog of each morphologic type goes into each of the resulting chromosome sets.
protein localization to kinetochore	Any process in which a protein is transported to, or maintained at, the kinetochore.

2 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q5EA49	MIS12	Protein MIS12 homolog	Bos taurus (Bovine)	PR
Q1T769	MIS12	Protein MIS12 homolog	Gallus gallus (Chicken)	PR

10	20	30	40	50	60
MSVDPMTYEA	QFFGFTPQTC	MLRIYIAFQD	YLFEVMQAVE	QVILKKLDGI	PDCDISPVQI
70	80	90	100	110	120
RKCTEKFLCF	MKGHFDNLFS	KMEQLFLQLI	LRIPSNILLP	EDKCKETPYS	EEDFQHLQKE
130	140	150	160	170	180
IEQLQEKYKT	ELCTKQALLA	ELEEQKIVQA	KLKQTLTFFD	ELHNVGRDHG	TSDFRESLVS
190	200
LVQNSRKLQN	IRDNVEKESK	RLKIS