AiPD: Autoinhibited Protein Database

Q9NPD8

Gene name	UBE2T (HSPC150, PIG50)
Protein name	Ubiquitin-conjugating enzyme E2 T
Names	Cell proliferation-inducing gene 50 protein, E2 ubiquitin-conjugating enzyme T, Ubiquitin carrier protein T, Ubiquitin-protein ligase T
Species	Homo sapiens (Human)
KEGG Pathway	hsa:29089
EC number	2.3.2.23: Aminoacyltransferases
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

117-197 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

117-197 (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

12 structures for Q9NPD8

Entry ID	Method	Resolution	Chain	Position	Source
1YH2	X-ray	200 A	A	1-167	PDB
4CCG	X-ray	240 A	A/B	1-197	PDB
5NGZ	X-ray	240 A	A	1-197	PDB
5OJJ	X-ray	185 A	A/B/C/D/E/F	1-154	PDB
6R75	X-ray	200 A	A	1-197	PDB
7KZR	EM	420 A	X	1-197	PDB
7KZS	EM	420 A	X	1-197	PDB
7KZT	EM	420 A	X	1-197	PDB
7KZV	EM	420 A	X	1-197	PDB
8JVE	X-ray	176 A	A	1-154	PDB
8JVL	X-ray	206 A	A	1-154	PDB
AF-Q9NPD8-F1	Predicted				AlphaFoldDB

145 variants for Q9NPD8

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs774357609 VAR_073861 CA214607 RCV000180789	2	Q>E	Fanconi anemia complementation group T FANCT; abolishes FANCD2 monoubiquitination; abolishes interaction with FANCL [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC dbSNP gnomAD
rs1240936663 CA344255691	2	Q>R		No	ClinGen gnomAD
rs912407716 CA35519074	4	A>V		No	ClinGen TOPMed gnomAD
rs764165744 CA1332478	5	S>L		No	ClinGen ExAC TOPMed gnomAD
CA1332475 rs770105376	6	R>C		No	ClinGen ExAC TOPMed gnomAD
CA344255633 rs1338703896	6	R>H		No	ClinGen TOPMed gnomAD
rs770105376 CA1332476	6	R>S		No	ClinGen ExAC TOPMed gnomAD
rs1270644382 CA344255606	8	K>R		No	ClinGen gnomAD
TCGA novel	10	E>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1213559862 CA344255569	10	E>D		No	ClinGen TOPMed
CA1332473 rs777171113	11	L>R		No	ClinGen ExAC TOPMed gnomAD
rs1407029340 CA344255541	13	M>I		No	ClinGen gnomAD
rs771512031 CA1332472	13	M>V		No	ClinGen ExAC TOPMed gnomAD
CA35519038 rs747527620	16	T>I		No	ClinGen ExAC TOPMed gnomAD
rs747527620 CA1332471	16	T>R		No	ClinGen ExAC TOPMed gnomAD
rs1339106555 CA344255523	16	T>S		No	ClinGen gnomAD
CA344255515 rs939848435 CA35519037	17	E>D		No	ClinGen TOPMed gnomAD
rs777350500 CA1332470	18	P>A		No	ClinGen ExAC gnomAD
CA1332469 rs757838693	18	P>L		No	ClinGen ExAC gnomAD
CA344255495 rs1558101272	21	G>A		No	ClinGen Ensembl
CA1332468 rs747750440	21	G>S		No	ClinGen ExAC gnomAD
rs144041308 CA1332467	22	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	23	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs201734685 CA1332466	24	C>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1346443763 CA344255471	25	W>*		No	ClinGen TOPMed
rs1244559413 TCGA novel CA344255466	25	W>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen gnomAD NCI-TCGA
CA344255470 rs1346443763	25	W>S		No	ClinGen TOPMed
CA1332465 rs753589139	26	Q>E		No	ClinGen ExAC gnomAD
rs1436992247 CA344255444	28	K>N		No	ClinGen gnomAD
rs779838604 CA1332464	29	D>E		No	ClinGen ExAC gnomAD
CA344255442 rs1457358639	29	D>N		No	ClinGen TOPMed
CA344255422 rs1197477542	31	M>R		No	ClinGen TOPMed gnomAD
rs1197477542 CA344255423	31	M>T		No	ClinGen TOPMed gnomAD
CA344255417 rs755979970	32	D>H		No	ClinGen ExAC TOPMed gnomAD
CA1332463 rs755979970	32	D>N		No	ClinGen ExAC TOPMed gnomAD
CA1332461 rs767502640	35	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA344255398 rs767502640	35	R>G		No	ClinGen ExAC gnomAD
rs1372425724 CA344255395	35	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs200130395 CA1332460	36	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs752864201 CA1332459	37	Q>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA35518751 rs1016520120	40	G>V		No	ClinGen TOPMed
CA1332438 rs543583323	42	A>D		No	ClinGen 1000Genomes ExAC gnomAD
rs370621010 CA1332437	43	N>I		No	ClinGen ESP ExAC gnomAD
rs1039347409 CA35518748	44	T>I		No	ClinGen gnomAD
rs1248545981 CA344255325	45	P>L		No	ClinGen TOPMed gnomAD
rs1283283481 CA344255203	56	I>N		No	ClinGen TOPMed gnomAD
CA1332434 rs773749718	56	I>V		No	ClinGen ExAC gnomAD
CA344255195 rs1224648358	57	I>T		No	ClinGen gnomAD
CA1332433 rs147122531	58	P>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA344255191 rs147122531	58	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA344255185 rs1429361997	59	E>*		No	ClinGen gnomAD
CA1332432 rs762403530	59	E>A		No	ClinGen ExAC gnomAD
CA1332431 rs201663062	59	E>D		No	ClinGen 1000Genomes ExAC gnomAD
rs968427687 CA35518197	62	P>L		No	ClinGen TOPMed
rs1571470423 CA344254873	63	F>Y		No	ClinGen Ensembl
rs1423446808 CA344254864	64	E>G		No	ClinGen TOPMed
CA1332417 rs756434392	67	Q>L		No	ClinGen ExAC gnomAD
CA344254835 rs1190526221	68	I>M		No	ClinGen gnomAD
rs149154798 CA1332416	69	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA1332415 rs200525550	69	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1484427636 CA344254828	70	F>S		No	ClinGen gnomAD
rs762151061 CA1332414	70	F>V		No	ClinGen ExAC TOPMed gnomAD
CA1332413 rs774909474	71	L>V		No	ClinGen ExAC
rs184351718 CA1332411	72	T>I		No	ClinGen 1000Genomes ExAC gnomAD
rs769392145 CA1332409	73	P>L		No	ClinGen ExAC gnomAD
CA35518166 rs1030653808	74	I>V		No	ClinGen TOPMed gnomAD
rs1381613919 CA344254785	77	P>S		No	ClinGen gnomAD
CA344254781 rs776219033	78	N>D		No	ClinGen ExAC gnomAD
CA1332407 rs776219033	78	N>H		No	ClinGen ExAC gnomAD
CA1332406 rs770751259	79	I>V		No	ClinGen ExAC gnomAD
CA1332405 rs746834329	83	G>R		No	ClinGen ExAC gnomAD
rs777741257 CA1332404	88	D>H		No	ClinGen ExAC gnomAD
rs777741257 CA35518135	88	D>Y		No	ClinGen ExAC gnomAD
rs1372258253 CA344254701	90	L>P		No	ClinGen gnomAD
CA1332403 rs758447884	91	K>R		No	ClinGen ExAC gnomAD
CA344254679 rs1393902502	93	P>L		No	ClinGen TOPMed
rs1384898348 CA344254676	94	P>Q		No	ClinGen gnomAD
rs545697522 CA1332402	94	P>T		No	ClinGen 1000Genomes ExAC gnomAD
CA344254667 rs1221263720	95	K>N		No	ClinGen gnomAD
rs960163178 CA35518083	96	G>R		No	ClinGen Ensembl
CA344254644 rs1358052696	97	A>V		No	ClinGen TOPMed
rs1363598301 CA344254623	100	P>R		No	ClinGen gnomAD
TCGA novel	101	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs781446718 CA1332381	103	N>S		No	ClinGen ExAC gnomAD
CA1332380 rs757454009	104	I>V		No	ClinGen ExAC gnomAD
rs1034241281 CA344254596	105	A>S		No	ClinGen TOPMed gnomAD
rs1034241281 CA35518071	105	A>T		No	ClinGen TOPMed gnomAD
CA1332378 rs778127476	106	T>A		No	ClinGen ExAC gnomAD
TCGA novel	110	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA344254552 rs1346001133	112	Q>*		No	ClinGen gnomAD
rs758840574 CA1332377	116	S>L		No	ClinGen ExAC gnomAD
rs1353099612 CA344254513	118	P>A		No	ClinGen Ensembl
CA1332375 rs765788034	119	N>S		No	ClinGen ExAC
CA344254498 rs1367177637	120	P>S		No	ClinGen TOPMed
CA35518054 rs1047159962	123	P>L		No	ClinGen TOPMed
CA344254464 rs1174656477	125	M>T		No	ClinGen gnomAD
CA1332372 rs201271123	126	A>V		No	ClinGen 1000Genomes ExAC gnomAD
CA344254447 rs766013559	127	D>E		No	ClinGen ExAC gnomAD
rs146752001 CA1332370	128	I>T		No	ClinGen ESP ExAC gnomAD
rs1347960461 CA730179048	134	Y>*		No	ClinGen TOPMed
rs1413658331 CA344254309	134	Y>C		No	ClinGen TOPMed
rs753338256 CA1332351	134	Y>N		No	ClinGen ExAC gnomAD
rs1400935294 CA344254299	135	N>D		No	ClinGen TOPMed
rs1163736312 CA344254295	135	N>S		No	ClinGen TOPMed
rs765818592 CA1332349	137	P>T		No	ClinGen ExAC gnomAD
CA344254260 rs1303740991	138	A>T		No	ClinGen TOPMed
CA344254247 rs1338605779	139	F>L		No	ClinGen gnomAD
CA344254157 rs867416009	143	A>G		No	ClinGen gnomAD
rs1229178531 CA344254171	143	A>T		No	ClinGen gnomAD
rs867416009 CA35517866	143	A>V		No	ClinGen gnomAD
rs750096705 CA1332347	145	Q>L		No	ClinGen ExAC TOPMed gnomAD
CA1332346 rs546391428	146	W>R		No	ClinGen 1000Genomes ExAC gnomAD
rs774320082 CA1332344	148	E>D		No	ClinGen ExAC TOPMed gnomAD
CA1332345 rs761670962	148	E>G		No	ClinGen ExAC gnomAD
rs1390179146 CA344254046	149	K>R		No	ClinGen gnomAD
TCGA novel	151	A>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs768591575 CA1332343	151	A>S		No	ClinGen ExAC TOPMed gnomAD
rs1226731834 CA344254005	151	A>V		No	ClinGen Ensembl
rs201136359 CA1332342	152	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA344253865 rs1224396287	155	Q>H		No	ClinGen TOPMed
rs1449037897 CA344252895	158	D>A		No	ClinGen TOPMed
CA344252872 rs1266878292	160	E>K		No	ClinGen gnomAD
rs1220838301 CA344252849	161	E>G		No	ClinGen gnomAD
rs767237410 CA1332325	164	D>H		No	ClinGen ExAC TOPMed gnomAD
CA344252813 rs767237410	164	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1328902598 CA344252761	168	E>Q		No	ClinGen gnomAD
rs1175646971 CA344252758	168	E>V		No	ClinGen TOPMed gnomAD
CA344252736 rs1428191283	170	G>S		No	ClinGen Ensembl
rs763798312 CA1332322	170	G>V		No	ClinGen ExAC TOPMed gnomAD
rs1370247738 CA344252694	173	R>G		No	ClinGen Ensembl
CA1332319 rs765271839	174	V>I		No	ClinGen ExAC gnomAD
rs760716803 CA1332318	175	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA344252644 rs1315747793	176	N>S		No	ClinGen gnomAD
rs1456567096 CA344252626	177	S>L		No	ClinGen TOPMed gnomAD
rs1389084401 CA344252622	178	T>A		No	ClinGen gnomAD
rs1389084401 CA344252624	178	T>P		No	ClinGen gnomAD
rs368296429 CA1332316	185	Q>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1332315 rs748385037	185	Q>H		No	ClinGen ExAC gnomAD
rs1248742247 CA344252491	187	V>A		No	ClinGen gnomAD
CA344252480 rs1213896736	188	G>D		No	ClinGen gnomAD
rs1210544578 CA344252435	191	K>N		No	ClinGen TOPMed
CA1332314 rs774711510	194	H>L		No	ClinGen ExAC TOPMed gnomAD
rs774711510 CA344252395	194	H>R		No	ClinGen ExAC TOPMed gnomAD
rs1436308431 CA344252385	195	P>R		No	ClinGen TOPMed
rs560282941 CA1332313	197	V>I		No	ClinGen 1000Genomes ExAC gnomAD

1 associated diseases with Q9NPD8

[MIM: 616435]: Fanconi anemia complementation group T (FANCT)

A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair. {ECO:0000269|PubMed:26046368}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair. {ECO:0000269|PubMed:26046368}. Note=The disease is caused by variants affecting the gene represented in this entry.

No regional properties for Q9NPD8

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for Q9NPD8

Functions

		Description
EC Number	2.3.2.23	Aminoacyltransferases
Subcellular Localization	Nucleus	Accumulates to chromatin
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

3 GO annotations of cellular component

Name	Definition
nucleolus	A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.
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.

5 GO annotations of molecular function

Name	Definition
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
chromatin binding	Binding to chromatin, the network of fibers of DNA, protein, and sometimes RNA, that make up the chromosomes of the eukaryotic nucleus during interphase.
ubiquitin conjugating enzyme activity	Isoenergetic transfer of ubiquitin from one protein to another via the reaction X-ubiquitin + Y -> Y-ubiquitin + X, where both the X-ubiquitin and Y-ubiquitin linkages are thioester bonds between the C-terminal glycine of ubiquitin and a sulfhydryl side group of a cysteine residue.
ubiquitin protein ligase binding	Binding to a ubiquitin protein ligase enzyme, any of the E3 proteins.
ubiquitin-protein transferase activity	Catalysis of the transfer of ubiquitin from one protein to another via the reaction X-Ub + Y --> Y-Ub + X, where both X-Ub and Y-Ub are covalent linkages.

11 GO annotations of biological process

Name	Definition
cellular response to DNA damage stimulus	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating damage to its DNA from environmental insults or errors during metabolism.
DNA repair	The process of restoring DNA after damage. Genomes are subject to damage by chemical and physical agents in the environment (e.g. UV and ionizing radiations, chemical mutagens, fungal and bacterial toxins, etc.) and by free radicals or alkylating agents endogenously generated in metabolism. DNA is also damaged because of errors during its replication. A variety of different DNA repair pathways have been reported that include direct reversal, base excision repair, nucleotide excision repair, photoreactivation, bypass, double-strand break repair pathway, and mismatch repair pathway.
protein autoubiquitination	The ubiquitination by a protein of one or more of its own amino acid residues, or residues on an identical protein. Ubiquitination occurs on the lysine residue by formation of an isopeptide crosslink.
protein K11-linked ubiquitination	A protein ubiquitination process in which ubiquitin monomers are attached to a protein, and then ubiquitin polymers are formed by linkages between lysine residues at position 11 of the ubiquitin monomers. K11-linked polyubiquitination targets the substrate protein for degradation. The anaphase-promoting complex promotes the degradation of mitotic regulators by assembling K11-linked polyubiquitin chains.
protein K27-linked ubiquitination	A protein ubiquitination process in which a polymer of ubiquitin, formed by linkages between lysine residues at position 27 of the ubiquitin monomers, is added to a protein.
protein K29-linked ubiquitination	A protein ubiquitination process in which a polymer of ubiquitin, formed by linkages between lysine residues at position 29 of the ubiquitin monomers, is added to a protein. K29-linked ubiquitination targets the substrate protein for degradation.
protein K48-linked ubiquitination	A protein ubiquitination process in which a polymer of ubiquitin, formed by linkages between lysine residues at position 48 of the ubiquitin monomers, is added to a protein. K48-linked ubiquitination targets the substrate protein for degradation.
protein K6-linked ubiquitination	A protein ubiquitination process in which a polymer of ubiquitin, formed by linkages between lysine residues at position 6 of the ubiquitin monomers, is added to a protein. K6-linked ubiquitination is involved in DNA repair.
protein K63-linked ubiquitination	A protein ubiquitination process in which a polymer of ubiquitin, formed by linkages between lysine residues at position 63 of the ubiquitin monomers, is added to a protein. K63-linked ubiquitination does not target the substrate protein for degradation, but is involved in several pathways, notably as a signal to promote error-free DNA postreplication repair.
protein monoubiquitination	Addition of a single ubiquitin group to a protein.
protein polyubiquitination	Addition of multiple ubiquitin groups to a protein, forming a ubiquitin chain.

20 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q32LD2	UBE2T	Ubiquitin-conjugating enzyme E2 T	Bos taurus (Bovine)	PR
P35128	ben	Ubiquitin-conjugating enzyme E2 N	Drosophila melanogaster (Fruit fly)	PR
P25867	eff	Ubiquitin-conjugating enzyme E2-17 kDa	Drosophila melanogaster (Fruit fly)	PR
Q969T4	UBE2E3	Ubiquitin-conjugating enzyme E2 E3	Homo sapiens (Human)	PR
Q96LR5	UBE2E2	Ubiquitin-conjugating enzyme E2 E2	Homo sapiens (Human)	PR
Q16763	UBE2S	Ubiquitin-conjugating enzyme E2 S	Homo sapiens (Human)	EV
Q9Y385	UBE2J1	Ubiquitin-conjugating enzyme E2 J1	Homo sapiens (Human)	PR
Q9H8T0	AKTIP	AKT-interacting protein	Homo sapiens (Human)	PR
P61086	UBE2K	Ubiquitin-conjugating enzyme E2 K	Homo sapiens (Human)	PR
O00762	UBE2C	Ubiquitin-conjugating enzyme E2 C	Homo sapiens (Human)	PR
O14933	UBE2L6	Ubiquitin/ISG15-conjugating enzyme E2 L6	Homo sapiens (Human)	PR
Q7Z7E8	UBE2Q1	Ubiquitin-conjugating enzyme E2 Q1	Homo sapiens (Human)	PR
A1L167	UBE2QL1	Ubiquitin-conjugating enzyme E2Q-like protein 1	Homo sapiens (Human)	PR
P52483	Ube2e3	Ubiquitin-conjugating enzyme E2 E3	Mus musculus (Mouse)	PR
P61079	Ube2d3	Ubiquitin-conjugating enzyme E2 D3	Mus musculus (Mouse)	PR
Q9CQ37	Ube2t	Ubiquitin-conjugating enzyme E2 T	Mus musculus (Mouse)	PR
P35129	let-70	Ubiquitin-conjugating enzyme E2 2	Caenorhabditis elegans	PR
Q9C8X7	UBC31	Probable ubiquitin-conjugating enzyme E2 31	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9SLE4	UBC29	Ubiquitin-conjugating enzyme E2 29	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9LJD7	COP10	Constitutive photomorphogenesis protein 10	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MQRASRLKRE	LHMLATEPPP	GITCWQDKDQ	MDDLRAQILG	GANTPYEKGV	FKLEVIIPER
70	80	90	100	110	120
YPFEPPQIRF	LTPIYHPNID	SAGRICLDVL	KLPPKGAWRP	SLNIATVLTS	IQLLMSEPNP
130	140	150	160	170	180
DDPLMADISS	EFKYNKPAFL	KNARQWTEKH	ARQKQKADEE	EMLDNLPEAG	DSRVHNSTQK
190
RKASQLVGIE	KKFHPDV