AiPD: Autoinhibited Protein Database

Q3KP22

Gene name	MAJIN
Protein name	Membrane-anchored junction protein
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:283129
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

92-216 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

92-216 (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 Q3KP22

Entry ID	Method	Resolution	Chain	Position	Source
6GNX	X-ray	290 A	A/C	1-49	PDB
6GNY	X-ray	185 A	A/C	1-49	PDB
6J08	X-ray	290 A	A/B/C	2-49	PDB
AF-Q3KP22-F1	Predicted				AlphaFoldDB

135 variants for Q3KP22

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA223901184 rs866513707	3	L>S		No	ClinGen Ensembl
rs775733031 CA6087559	5	P>L		No	ClinGen ExAC gnomAD
CA381182893 rs1342766340	7	T>A		No	ClinGen gnomAD
rs1471756429 CA6087556	8	Y>C		No	ClinGen TOPMed
CA6087558 rs769971920	8	Y>H		No	ClinGen ExAC gnomAD
rs781719660 CA6087554	9	P>L		No	ClinGen ExAC TOPMed gnomAD
rs746400819 CA6087555	9	P>T		No	ClinGen ExAC gnomAD
rs747416147 CA6087552	10	F>L		No	ClinGen ExAC gnomAD
CA381182771 rs1306255262	12	E>D		No	ClinGen gnomAD
rs778045629 CA6087551	12	E>G		No	ClinGen ExAC gnomAD
rs200290554 CA6087550	13	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs747753223 CA6087548	15	F>V		No	ClinGen ExAC
rs548422925 CA6087547	16	L>F		No	ClinGen 1000Genomes ExAC gnomAD
CA381182639 rs753774551	17	H>P		No	ClinGen ExAC TOPMed gnomAD
CA6087545 rs753774551	17	H>R		No	ClinGen ExAC TOPMed gnomAD
rs867650230 CA223901146	18	A>S		No	ClinGen gnomAD
CA381182616 rs867650230	18	A>T		No	ClinGen gnomAD
CA6087543 rs755933994	19	G>E		No	ClinGen ExAC gnomAD
rs750259177 CA6087542	20	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1405846084 CA381182523	21	N>S		No	ClinGen gnomAD
CA381182449 rs1483057074	23	Y>C		No	ClinGen gnomAD
CA6087541 rs368431514	24	K>E		No	ClinGen ESP ExAC gnomAD
CA6087540 rs529072438	24	K>R		No	ClinGen 1000Genomes ExAC gnomAD
CA6087539 rs775822980	25	F>L		No	ClinGen ExAC gnomAD
CA6087538 rs765479119	27	I>V		No	ClinGen ExAC gnomAD
rs1350212780 CA381182270	29	Y>*		No	ClinGen gnomAD
CA381182265 rs1403939432	30	G>R		No	ClinGen TOPMed
CA223901122 rs200188712	31	K>E		No	ClinGen Ensembl
CA6087535 rs767657443	31	K>N		No	ClinGen ExAC TOPMed gnomAD
CA6087534 rs747435219	32	S>T		No	ClinGen ExAC gnomAD
rs773591860 CA6087533	33	I>V		No	ClinGen ExAC gnomAD
CA381179558 rs1432025788	35	G>R		No	ClinGen TOPMed
rs569704739 CA6087511	36	E>K		No	ClinGen 1000Genomes ExAC gnomAD
rs569704739 CA6087510	36	E>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs1414452146 CA381179499	37	E>D		No	ClinGen gnomAD
rs1300462997 CA381179510	37	E>G		No	ClinGen TOPMed
rs143048018 CA6087508	38	I>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA381179490 rs1185820287	38	I>V		No	ClinGen gnomAD
rs1314669096 CA381179453	39	E>K		No	ClinGen gnomAD
rs1249641714 CA381179368	42	E>K		No	ClinGen gnomAD
CA6087507 rs549528920	47	E>*		No	ClinGen 1000Genomes ExAC gnomAD
rs745867027 CA6087506	47	E>D		No	ClinGen ExAC gnomAD
CA6087505 rs781260955	48	L>P		No	ClinGen ExAC TOPMed gnomAD
CA381179188 rs1265002004	48	L>V		No	ClinGen gnomAD
rs751405480 CA6087503	49	E>Q		No	ClinGen ExAC gnomAD
rs765009614 CA6087369	52	V>G		No	ClinGen ExAC TOPMed gnomAD
rs752600860 CA6087370	52	V>I		No	ClinGen ExAC gnomAD
rs141674274 CA6087368	57	V>I		No	ClinGen ESP ExAC gnomAD
CA6087367 rs376267986	58	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs372651737 CA6087364	61	M>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs372651737 CA6087365	61	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1486256078 CA381210501	62	R>G		No	ClinGen gnomAD
rs768821510 CA223934041	64	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs768821510 CA6087363	64	R>G		No	ClinGen ExAC gnomAD
CA6087362 rs749874119	64	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA381210437 rs1477686700	66	H>Q		No	ClinGen TOPMed
rs776048754 CA6087361	67	M>V		No	ClinGen ExAC gnomAD
rs145232114 CA381210405	68	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs1340432116 CA381210396	69	E>G		No	ClinGen gnomAD
rs140240334 CA6087359	69	E>K		No	ClinGen ESP ExAC gnomAD
rs1409979704 CA381210379	70	P>L		No	ClinGen TOPMed
CA381210366 rs1382415214	71	S>R		No	ClinGen gnomAD
rs1565125291 CA381210357	72	S>F		No	ClinGen Ensembl
CA381210347 rs149450150	73	P>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6087356 rs149450150	73	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA381210330 rs1437902477	74	S>R		No	ClinGen TOPMed gnomAD
CA6087355 rs780767889	75	R>K		No	ClinGen ExAC TOPMed gnomAD
CA223933964 rs956655937	78	L>R		No	ClinGen TOPMed
rs1429337579 CA381210261	80	R>M		No	ClinGen gnomAD
CA381210230 rs1183274722	81	A>T		No	ClinGen gnomAD
CA381210216 rs1307565277	83	I>V		No	ClinGen gnomAD
rs1565124043 CA381210202	85	T>S		No	ClinGen Ensembl
CA381210184 rs1395276768	88	Q>K		No	ClinGen gnomAD
CA223933216 rs1023360119	95	P>A		No	ClinGen TOPMed gnomAD
CA381210131 rs1023360119	95	P>S		No	ClinGen TOPMed gnomAD
CA381210121 rs1471072303	97	V>M		No	ClinGen gnomAD
rs1223598126 CA381210102	99	T>I		No	ClinGen TOPMed
CA6087330 rs200374744	108	Q>P		No	ClinGen 1000Genomes ExAC gnomAD
rs763220707 CA6087329	109	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs763220707 CA6087328	109	Q>K		No	ClinGen ExAC TOPMed gnomAD
rs992872615 CA223930523	109	Q>R		No	ClinGen TOPMed gnomAD
rs1159699213 CA381209212	110	G>V		No	ClinGen TOPMed gnomAD
rs1470924483 CA381209193	111	L>F		No	ClinGen TOPMed
rs1175139223 CA381209187	112	Q>*		No	ClinGen TOPMed
CA381209163 rs1457829473	113	E>D		No	ClinGen gnomAD
rs1367152047 CA381209139	115	L>V		No	ClinGen gnomAD
rs752853902 CA6087327	117	S>C		No	ClinGen ExAC gnomAD
CA6087326 rs765201427	118	D>Y		No	ClinGen ExAC gnomAD
CA381209085 rs1288760353	119	I>V		No	ClinGen TOPMed gnomAD
CA6087325 rs138728143	120	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1448277583 CA381209049	121	D>A		No	ClinGen gnomAD
CA381208992 rs1209238969	125	Q>*		No	ClinGen gnomAD
rs1031687633 CA223930504	125	Q>P		No	ClinGen TOPMed
rs1565117403 CA381208927	126	D>A		No	ClinGen Ensembl
CA6087323 rs771350941	126	D>N		No	ClinGen ExAC gnomAD
CA381208896 rs1341738310	128	E>A		No	ClinGen gnomAD
CA381208889 rs758734857	128	E>D		No	ClinGen ExAC TOPMed gnomAD
CA223930137 rs1037819430	129	W>R		No	ClinGen TOPMed gnomAD
CA223930132 rs369863006	130	G>E		No	ClinGen ESP TOPMed gnomAD
CA381208874 rs1343689264	130	G>R		No	ClinGen gnomAD
CA223930127 rs558618357	131	H>P		No	ClinGen TOPMed gnomAD
rs1370405763 CA381208844	132	S>G		No	ClinGen gnomAD
CA6087309 rs765416026	135	G>E		No	ClinGen ExAC gnomAD
CA381208788 rs1171595125 COSM1197937	136	R>Q	Variant assessed as Somatic; 4.624e-05 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs766883280 CA6087306	140	P>S		No	ClinGen ExAC gnomAD
rs149077208 CA6087303	145	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1057442855 CA381208643	146	P>L		No	ClinGen Ensembl
rs1057442855 CA223930104	146	P>R		No	ClinGen Ensembl
CA6087302 rs761571890	146	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1321577560 CA381208612	148	P>L		No	ClinGen gnomAD
CA381208616 rs1200073404	148	P>S		No	ClinGen gnomAD
rs1285267701 CA381208578	151	R>*		No	ClinGen TOPMed gnomAD
rs1285267701 CA381208579	151	R>G		No	ClinGen TOPMed gnomAD
rs768291200 CA6087300	151	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA381208562 rs1350427284	152	A>V		No	ClinGen TOPMed gnomAD
CA381208554 rs1428653153	153	A>G		No	ClinGen TOPMed
CA381208548 rs1173913572	154	T>A		No	ClinGen TOPMed
rs550355388 CA6087298	155	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA381208512 rs1302186657	158	G>E		No	ClinGen TOPMed
rs745770673 CA6087296	159	F>V		No	ClinGen ExAC gnomAD
CA381208489 rs1293113274	161	S>N		No	ClinGen TOPMed
rs1394233938 CA381208466	163	L>F		No	ClinGen TOPMed
rs1311694873 CA381208461	164	F>L		No	ClinGen TOPMed
CA6087281 rs762628309	165	P>L		No	ClinGen ExAC TOPMed gnomAD
CA381208451 rs762628309	165	P>Q		No	ClinGen ExAC TOPMed gnomAD
rs531700220 CA6087279	167	R>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA223929704 rs531700220	167	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA223929702 rs948268193	167	R>Q		No	ClinGen TOPMed gnomAD
CA381208434 rs1590685958	168	Y>F		No	ClinGen Ensembl
rs1240415257 CA381208396	171	R>G		No	ClinGen TOPMed gnomAD
CA381208363 rs1590685928	173	S>T		No	ClinGen Ensembl
CA6087278 rs187236670	174	S>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA223929695 rs992257825	174	S>I		No	ClinGen TOPMed
CA381208336 rs1291613257	175	H>R		No	ClinGen TOPMed gnomAD
CA381208310 rs1315370839	177	S>S		No	ClinGen TOPMed gnomAD

No associated diseases with Q3KP22

No regional properties for Q3KP22

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for Q3KP22

Functions

		Description
EC Number
Subcellular Localization	Nucleus inner membrane ; Single-pass membrane protein Chromosome, telomere	In leptotene spermatocytes, localizes to telomeres that localize to the nucleus inner membrane
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

2 GO annotations of cellular component

Name	Definition
chromosome, telomeric region	The end of a linear chromosome, required for the integrity and maintenance of the end. A chromosome telomere usually includes a region of telomerase-encoded repeats the length of which rarely exceeds 20 bp each and that permits the formation of a telomeric loop (T-loop). The telomeric repeat region is usually preceded by a sub-telomeric region that is gene-poor but rich in repetitive elements. Some telomeres only consist of the latter part (for eg. D. melanogaster telomeres).
integral component of nuclear inner membrane	The component of the nuclear inner membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.

1 GO annotations of molecular function

Name	Definition
DNA binding	Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid).

3 GO annotations of biological process

Name	Definition
homologous chromosome pairing at meiosis	The meiotic cell cycle process where side by side pairing and physical juxtaposition of homologous chromosomes is created during meiotic prophase. Homologous chromosome pairing begins when the chromosome arms begin to pair from the clustered telomeres and ends when synaptonemal complex or linear element assembly is complete.
meiotic attachment of telomere to nuclear envelope	The meiotic cell cycle process in which physical connections are formed between telomeric heterochromatin and the nuclear envelope, facilitating bouquet formation.
meiotic telomere clustering	The cell cycle process in which the dynamic reorganization of telomeres occurs in early meiotic prophase, during which meiotic chromosome ends are gathered in a bouquet arrangement at the inner surface of the nuclear envelope proximal to the spindle pole body. This plays an important role in progression through meiosis and precedes synapsis.

No homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
No homologous proteins

10	20	30	40	50	60
MSLKPFTYPF	PETRFLHAGP	NVYKFKIRYG	KSIRGEEIEN	KEVITQELEV	PVEKKAVGAV
70	80	90	100	110	120
MRKRKHMDEP	SSPSRPGLDR	AKIGTSSQGP	SKKKPPVETR	RNRERKTQQG	LQETLASDIT
130	140	150	160	170
DVQKQDSEWG	HSLPGRIVPP	LQHNSPPPKE	RAATGFFGFL	SSLFPFRYFF	RKSSHS