AiPD: Autoinhibited Protein Database

O14933

Gene name	UBE2L6 (UBCH8)
Protein name	Ubiquitin/ISG15-conjugating enzyme E2 L6
Names	Activating natural killer receptor p30, Natural killer cell p30-related protein, NK-p30, NKp30, E2 ubiquitin-conjugating enzyme L6, Retinoic acid-induced gene B protein, RIG-B, UbcH8, Ubiquitin carrier protein L6, Ubiquitin-protein ligase L6
Species	Homo sapiens (Human)
KEGG Pathway	hsa:9246
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)

1-50 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-50 (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

9 structures for O14933

Entry ID	Method	Resolution	Chain	Position	Source
1WZV	X-ray	210 A	A/B	2-153	PDB
1WZW	X-ray	240 A	A	2-153	PDB
2KJH	NMR	-	A	2-153	PDB
8OIF	EM	350 A	L	1-153	PDB
8SE9	EM	320 A	C	2-153	PDB
8SEA	EM	340 A	C	2-153	PDB
8SEB	EM	324 A	C	2-153	PDB
8SV8	EM	338 A	C	2-153	PDB
AF-O14933-F1	Predicted				AlphaFoldDB

129 variants for O14933

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs779011383 CA6007910	2	M>T		No	ClinGen ExAC TOPMed gnomAD
CA6007909 rs770938803	3	A>P		No	ClinGen ExAC TOPMed gnomAD
rs1327830240 CA380690507	3	A>V		No	ClinGen TOPMed
rs1206468592 CA380690496	4	S>G		No	ClinGen TOPMed
CA380690490 rs1254431267	4	S>N		No	ClinGen TOPMed
CA6007907 rs778109418	5	M>V		No	ClinGen ExAC gnomAD
rs1590812780 CA380690427	7	V>G		No	ClinGen Ensembl
rs866823844 CA223031295	10	E>K		No	ClinGen Ensembl
CA6007879 rs763603208	11	L>V		No	ClinGen ExAC gnomAD
rs752654196 CA6007877	13	D>Y		No	ClinGen ExAC gnomAD
CA6007876 rs538346823	14	L>V		No	ClinGen 1000Genomes ExAC gnomAD
rs143103984 CA6007875	17	K>E		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	17	K>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA380689600 rs1180196107	18	P>H		No	ClinGen TOPMed gnomAD
CA380689599 rs1180196107	18	P>L		No	ClinGen TOPMed gnomAD
CA380689602 rs1180196107	18	P>R		No	ClinGen TOPMed gnomAD
rs549126873 CA6007873	20	P>L		No	ClinGen 1000Genomes ExAC gnomAD
rs1206205184 CA380689549	22	L>R		No	ClinGen TOPMed
CA6007869 rs748613257	23	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs140725358 CA6007870	23	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs769274452 CA6007867	25	L>M		No	ClinGen ExAC gnomAD
rs1309313008 CA380689480	28	D>N		No	ClinGen TOPMed gnomAD
rs780484528 CA6007864	31	N>D		No	ClinGen ExAC gnomAD
CA6007863 rs756796851	31	N>S		No	ClinGen ExAC TOPMed gnomAD
CA380689422 COSM1179049 rs1415407722	32	V>I	prostate [Cosmic]	No	ClinGen cosmic curated gnomAD
CA380689383 rs1590809823	35	W>*		No	ClinGen Ensembl
rs1802110 CA380689357	36	H>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA380689366 rs1429822493	36	H>Y		No	ClinGen TOPMed
rs35921478 CA6007860	37	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1436379266 CA380689344	38	L>V		No	ClinGen TOPMed
CA380689314 rs1419587580	41	P>T		No	ClinGen gnomAD
CA380688344 rs1248032747	42	D>G		No	ClinGen TOPMed
rs1590807616 CA380688330	43	Q>H		No	ClinGen Ensembl
CA6007835 rs750280866	43	Q>R		No	ClinGen ExAC gnomAD
CA6007834 rs765544687	44	P>T		No	ClinGen ExAC gnomAD
TCGA novel	46	Y>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1341450097 CA380688289	47	H>Y		No	ClinGen gnomAD
rs1047241144 CA223026984	49	K>I		No	ClinGen Ensembl
rs199916226 CA223026983	50	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA6007831 rs764266792	52	N>K		No	ClinGen ExAC gnomAD
rs368582367 CA223026982	52	N>S		No	ClinGen TOPMed gnomAD
CA380688230 rs368582367	52	N>T		No	ClinGen TOPMed gnomAD
rs566307884 CA223026957	54	R>C		No	ClinGen 1000Genomes TOPMed
CA6007830 rs761042943	54	R>H		No	ClinGen ExAC gnomAD
rs867995120 CA223026936	56	S>T		No	ClinGen Ensembl
CA223026930 rs111996228	57	F>L		No	ClinGen Ensembl
rs372087046 CA6007829	58	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1195794969 CA380688150	59	P>L		No	ClinGen gnomAD
rs1424010492 CA380688158	59	P>T		No	ClinGen gnomAD
CA6007826 rs774753576	61	Y>N		No	ClinGen ExAC gnomAD
CA223026898 rs539144029	61	Y>S		No	ClinGen 1000Genomes
rs769375964 CA6007825	62	P>L		No	ClinGen ExAC TOPMed gnomAD
CA380688059 rs1590807563	65	P>L		No	ClinGen Ensembl
rs1316516411 CA380688050	66	P>L		No	ClinGen TOPMed
rs571633324 CA6007823	67	M>T		No	ClinGen 1000Genomes ExAC gnomAD
rs1197560575 CA380688047	67	M>V		No	ClinGen gnomAD
rs1565158540 CA380688035	68	I>M		No	ClinGen Ensembl
TCGA novel	70	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1289368724 CA380688005	73	K>E		No	ClinGen gnomAD
CA380687996 rs1565158537	74	I>F		No	ClinGen Ensembl
rs910185205 CA380687988	75	Y>C		No	ClinGen gnomAD
rs1280450631 CA380687990	75	Y>H		No	ClinGen gnomAD
rs910185205 CA223026888	75	Y>S		No	ClinGen gnomAD
rs1275580934 CA380687984	76	H>N		No	ClinGen gnomAD
rs746548305 CA6007821	76	H>Q		No	ClinGen ExAC
rs958241495 CA223026882	76	H>R		No	ClinGen TOPMed
rs750655918 CA6007819	78	N>S		No	ClinGen ExAC gnomAD
CA6007816 rs761677269	79	V>A		No	ClinGen ExAC TOPMed gnomAD
CA6007817 rs767476536	79	V>M		No	ClinGen ExAC TOPMed gnomAD
CA223026839 rs1002896599	80	D>G		No	ClinGen TOPMed
CA380687961 rs1298770315	80	D>N		No	ClinGen TOPMed gnomAD
rs764275833 CA6007814	81	E>K		No	ClinGen ExAC gnomAD
CA380687946 rs1191634589	82	N>D		No	ClinGen gnomAD
rs768057971 CA6007811	83	G>V		No	ClinGen ExAC gnomAD
CA380687932 rs1177663321	84	Q>*		No	ClinGen gnomAD
rs1349340308 CA380687922	85	I>N		No	ClinGen TOPMed
CA380687916 rs1360486107	86	C>S		No	ClinGen TOPMed gnomAD
rs1457912371 CA380687899	89	I>V		No	ClinGen gnomAD
rs140267878 CA6007810	90	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1468673140 CA380687884	91	S>N		No	ClinGen TOPMed
rs1468673140 CA380687883	91	S>T		No	ClinGen TOPMed
CA223026828 rs764082660	92	S>N		No	ClinGen Ensembl
rs1208451765 CA380687837	97	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1208451765 CA380687839	97	P>T		No	ClinGen TOPMed gnomAD
rs774628904 CA6007809	99	T>S		No	ClinGen ExAC gnomAD
CA6007807 rs761401395	102	C>*		No	ClinGen ExAC TOPMed gnomAD
CA6007808 rs766756809	102	C>Y		No	ClinGen ExAC TOPMed gnomAD
rs182512214 CA6007789	105	L>M		No	ClinGen 1000Genomes ExAC gnomAD
rs751401346 CA223025499	106	E>V		No	ClinGen gnomAD
CA223025482 rs928369753	107	A>T		No	ClinGen TOPMed gnomAD
rs763786718 CA6007787	109	N>H		No	ClinGen ExAC TOPMed gnomAD
rs151180286 CA6007786	109	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1457092177 CA380687742	110	V>G		No	ClinGen TOPMed
COSM396387 rs544348600 CA6007783	115	P>L	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA6007784 rs771730828	115	P>S		No	ClinGen ExAC gnomAD
rs771062322 CA6007781	117	I>M		No	ClinGen ExAC TOPMed gnomAD
CA380687673 rs922967862	121	L>P		No	ClinGen TOPMed gnomAD
CA223025459 rs922967862	121	L>R		No	ClinGen TOPMed gnomAD
CA6007779 rs777445955	122	R>L		No	ClinGen ExAC TOPMed gnomAD
rs777445955 CA380687670	122	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA6007780 rs199745337	122	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs908404341 CA223025448	123	M>T		No	ClinGen Ensembl
rs1590806655 CA380687658	124	D>A		No	ClinGen Ensembl
rs756289971 CA6007778	125	L>V		No	ClinGen ExAC gnomAD
CA6007776 rs781196789	126	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA6007775 rs755025294	127	D>N		No	ClinGen ExAC TOPMed gnomAD
CA380687635 rs1423298118	128	L>V		No	ClinGen gnomAD
CA380687618 rs1268234148	131	Q>*		No	ClinGen gnomAD
CA380687617 rs1565157933	131	Q>R		No	ClinGen Ensembl
CA380687612 rs780534083	132	N>D		No	ClinGen ExAC gnomAD
rs780534083 CA6007773	132	N>H		No	ClinGen ExAC gnomAD
rs758885261 CA6007772	132	N>K		No	ClinGen ExAC gnomAD
rs868642148 CA223025413 COSM543889	133	P>L	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1477054449 CA380687580	137	R>G		No	ClinGen TOPMed
rs765553953 CA6007769	141	E>K		No	ClinGen ExAC TOPMed gnomAD
CA6007768 rs760327098	143	F>V		No	ClinGen ExAC gnomAD
CA6007767 rs752376340	144	T>I		No	ClinGen ExAC TOPMed gnomAD
rs1590806611 CA380687528	144	T>P		No	ClinGen Ensembl
rs368600663 CA6007766	145	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs142059964 CA6007765	146	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA6007764 rs770937454	146	R>L		No	ClinGen ExAC gnomAD
rs770937454 CA6007763	146	R>Q		No	ClinGen ExAC gnomAD
rs1385740214 CA380687516	147	F>L		No	ClinGen gnomAD
rs1327527200 CA380687509	148	G>R		No	ClinGen TOPMed gnomAD
rs769495499 CA380687491	150	D>E		No	ClinGen ExAC TOPMed gnomAD
CA6007761 rs773016530	150	D>V		No	ClinGen ExAC gnomAD
CA6007759 rs752620035	151	R>W		No	ClinGen ExAC TOPMed gnomAD
CA6007757 rs781361296	153	S>P		No	ClinGen ExAC TOPMed
rs768932419 CA6007756	154	S>Q		No	ClinGen ExAC TOPMed gnomAD

No associated diseases with O14933

2 regional properties for O14933

Type	Name	Position	InterPro Accession
domain	Ubiquitin-conjugating enzyme E2	2 - 149	IPR000608
active_site	Ubiquitin-conjugating enzyme, active site	75 - 90	IPR023313

Functions

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

4 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.
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.
ubiquitin ligase complex	A protein complex that includes a ubiquitin-protein ligase and enables ubiquitin protein ligase activity. The complex also contains other proteins that may confer substrate specificity on the complex.

5 GO annotations of molecular function

Name	Definition
ISG15 transferase activity	Catalysis of the transfer of ISG15 from one protein to another via the reaction X-ISG15 + Y --> Y-ISG15 + X, where both X-ISG15 and Y-ISG15 are covalent linkages.
ubiquitin binding	Binding to ubiquitin, a protein that when covalently bound to other cellular proteins marks them for proteolytic degradation.
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.

4 GO annotations of biological process

Name	Definition
ISG15-protein conjugation	The covalent addition to a protein of ISG15, a ubiquitin-like protein.
protein modification process	The covalent alteration of one or more amino acids occurring in proteins, peptides and nascent polypeptides (co-translational, post-translational modifications). Includes the modification of charged tRNAs that are destined to occur in a protein (pre-translation modification).
protein polyubiquitination	Addition of multiple ubiquitin groups to a protein, forming a ubiquitin chain.
ubiquitin-dependent protein catabolic process	The chemical reactions and pathways resulting in the breakdown of a protein or peptide by hydrolysis of its peptide bonds, initiated by the covalent attachment of a ubiquitin group, or multiple ubiquitin groups, to the protein.

12 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P52487	Ubc84D	Ubiquitin-conjugating enzyme E2-18 kDa	Drosophila melanogaster (Fruit fly)	PR
Q9H8T0	AKTIP	AKT-interacting protein	Homo sapiens (Human)	PR
Q9Y385	UBE2J1	Ubiquitin-conjugating enzyme E2 J1	Homo sapiens (Human)	PR
P61086	UBE2K	Ubiquitin-conjugating enzyme E2 K	Homo sapiens (Human)	PR
Q9NPD8	UBE2T	Ubiquitin-conjugating enzyme E2 T	Homo sapiens (Human)	PR
O00762	UBE2C	Ubiquitin-conjugating enzyme E2 C	Homo sapiens (Human)	PR
Q96LR5	UBE2E2	Ubiquitin-conjugating enzyme E2 E2	Homo sapiens (Human)	PR
Q969T4	UBE2E3	Ubiquitin-conjugating enzyme E2 E3	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
Q16763	UBE2S	Ubiquitin-conjugating enzyme E2 S	Homo sapiens (Human)	EV
Q9LJD7	COP10	Constitutive photomorphogenesis protein 10	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MMASMRVVKE	LEDLQKKPPP	YLRNLSSDDA	NVLVWHALLL	PDQPPYHLKA	FNLRISFPPE
70	80	90	100	110	120
YPFKPPMIKF	TTKIYHPNVD	ENGQICLPII	SSENWKPCTK	TCQVLEALNV	LVNRPNIREP
130	140	150
LRMDLADLLT	QNPELFRKNA	EEFTLRFGVD	RPS