AiPD: Autoinhibited Protein Database

Q92890

Gene name	UFD1
Protein name	Ubiquitin recognition factor in ER-associated degradation protein 1
Names	Ubiquitin fusion degradation protein 1, UB fusion protein 1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:7353
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

183-279 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

183-279 (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

5 structures for Q92890

Entry ID	Method	Resolution	Chain	Position	Source
2YUJ	NMR	-	A	11-193	PDB
5B6C	X-ray	155 A	B	225-235	PDB
5C1B	X-ray	308 A	U/V	221-241	PDB
7WWQ	X-ray	272 A	B	258-273	PDB
AF-Q92890-F1	Predicted				AlphaFoldDB

150 variants for Q92890

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA410679022 rs1183584844	4	F>L		No	ClinGen TOPMed gnomAD
CA10100811 rs375256324	6	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1202859996 CA410678994	8	D>N		No	ClinGen gnomAD
CA410678986 rs1216190849	9	H>Y		No	ClinGen TOPMed
rs767966094 CA10100809	10	P>R		No	ClinGen ExAC gnomAD
rs1261425159 CA410678974	11	I>V		No	ClinGen TOPMed
CA10100808 rs761371971	12	P>S		No	ClinGen ExAC gnomAD
CA410678940 rs1212723332	16	Q>*		No	ClinGen gnomAD
rs768099897 CA10100806	16	Q>P		No	ClinGen ExAC TOPMed gnomAD
CA10100805 rs748804242	18	R>C		No	ClinGen ExAC gnomAD
rs779796826 CA10100804	18	R>H		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	19	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs952807008 CA322090734	20	S>F		No	ClinGen Ensembl
rs780815251 CA10100801	24	R>C		No	ClinGen ExAC TOPMed gnomAD
CA10100802 rs780815251	24	R>G		No	ClinGen ExAC TOPMed gnomAD
CA410678887 rs1244215037	24	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1336199650 CA410678867	27	S>P		No	ClinGen gnomAD
rs1380623295 CA410678860	28	V>L		No	ClinGen gnomAD
CA322090703 rs1804675	33	G>W		No	ClinGen Ensembl
CA10100798 rs376450944	39	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA10100784 rs762397719	49	P>A		No	ClinGen ExAC gnomAD
rs762397719 CA322090482	49	P>S		No	ClinGen ExAC gnomAD
COSM444702 rs1319213313 CA410678691	51	S>L	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA10100782 rs769382512	52	A>T		No	ClinGen ExAC gnomAD
CA10100767 rs762557245	61	I>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	64	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10100765 rs764639341	69	L>V		No	ClinGen ExAC gnomAD
rs1033146997 CA322088691	71	N>S		No	ClinGen TOPMed
rs759098781 COSM1032105 CA10100764	74	S>L	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
TCGA novel	75	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10100763 rs776363388	76	R>C		No	ClinGen ExAC gnomAD
CA10100762 rs371674923	76	R>H		No	ClinGen ESP ExAC gnomAD
CA410678514 rs371674923	76	R>L		No	ClinGen ESP ExAC gnomAD
CA10100761 rs760744737	77	M>V		No	ClinGen ExAC TOPMed gnomAD
CA10100760 rs773113277	78	T>M		No	ClinGen ExAC gnomAD
TCGA novel	80	C>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1278105278 CA410678439	88	D>N		No	ClinGen gnomAD
rs1441959227 CA410678408	92	C>G		No	ClinGen gnomAD
rs1601901193 CA410678398	93	Y>S		No	ClinGen Ensembl
CA10100656 rs145567772	101	N>S		No	ClinGen ESP ExAC gnomAD
rs1327486792 CA410678301	104	L>S		No	ClinGen gnomAD
rs559496644 CA10100653	110	V>A		No	ClinGen 1000Genomes ExAC gnomAD
rs1467864031 CA410678253	111	Q>H		No	ClinGen gnomAD
CA322085778 rs147963189	113	E>K		No	ClinGen ESP TOPMed
rs1059785 CA410678234	114	S>N		No	ClinGen gnomAD
CA410678231 rs1238553199	115	V>I		No	ClinGen TOPMed
rs1458169577 CA410678190	121	T>A		No	ClinGen gnomAD
rs771636950 CA10100647	124	K>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs17744624 VAR_052436 CA10100644	130	P>A		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
TCGA novel	130	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs17744624 CA410678125	130	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs779950207 CA10100642	141	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs779950207 CA322085718	141	V>L		No	ClinGen ExAC TOPMed gnomAD
CA322083988 rs570591571	151	C>R		No	ClinGen Ensembl
CA322083979 rs867907221	154	T>I		No	ClinGen gnomAD
CA410677949 rs867907221	154	T>S		No	ClinGen gnomAD
CA410677948 rs1193371066	155	G>R		No	ClinGen gnomAD
CA10100621 rs747138684	157	V>L		No	ClinGen ExAC gnomAD
TCGA novel	157	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1219924540 CA410677904	161	N>S		No	ClinGen gnomAD
TCGA novel	162	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	165	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA410677462 rs1196402704	166	I>V		No	ClinGen TOPMed
rs970370346 CA322079583	170	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs970370346 CA410677397	170	R>G		No	ClinGen gnomAD
rs1438161043 CA410677391	170	R>H		No	ClinGen TOPMed
rs1601889482 CA410677321	175	K>I		No	ClinGen Ensembl
rs1186646006 CA410677319	175	K>N		No	ClinGen TOPMed
rs1024645786 CA322079581	175	K>Q		No	ClinGen Ensembl
rs556474084 CA10100601	177	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10100600 rs556474084	177	D>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA322079569 rs201524540	178	K>E		No	ClinGen 1000Genomes
CA322079557 rs202242590	182	I>T		No	ClinGen 1000Genomes
TCGA novel	191	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs960493796 CA322078850	191	F>S		No	ClinGen TOPMed gnomAD
CA10100582 rs372367334	200	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs759438858 CA10100583	200	P>S		No	ClinGen ExAC gnomAD
rs748367529 CA10100580	201	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1214218394 CA410676834	202	R>S		No	ClinGen gnomAD
rs982995832 CA322078837	204	V>L		No	ClinGen TOPMed
CA410676800 rs1199716065	205	Q>E		No	ClinGen TOPMed
rs951656887 CA322078808	205	Q>H		No	ClinGen TOPMed gnomAD
CA410676742 rs1240946415	208	E>D		No	ClinGen gnomAD
CA10100577 rs202082039	209	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs374934335 CA410676598	215	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA10100560 rs570041603	215	D>N		No	ClinGen ExAC TOPMed gnomAD
CA322078648 rs904813152	216	H>Y		No	ClinGen Ensembl
CA410676569 rs1458013532	217	S>I		No	ClinGen gnomAD
CA410676578 rs1162094755	217	S>R		No	ClinGen TOPMed gnomAD
rs775637652 CA410676555	218	G>D		No	ClinGen ExAC gnomAD
CA410676559 rs1419550903	218	G>R		No	ClinGen gnomAD
CA10100558 rs775637652	218	G>V		No	ClinGen ExAC gnomAD
rs1371039024 CA410676545	219	Y>C		No	ClinGen gnomAD
CA10100557 rs769825596	219	Y>D		No	ClinGen ExAC gnomAD
CA410676552 rs769825596	219	Y>N		No	ClinGen ExAC gnomAD
CA410676534 rs1216527792	220	A>S		No	ClinGen Ensembl
rs1263556840 CA410676527	221	G>R		No	ClinGen gnomAD
rs746320448 CA10100556	226	R>C		No	ClinGen ExAC gnomAD
rs781669769 CA10100555	226	R>H		No	ClinGen ExAC TOPMed gnomAD
CA410676131 rs1418876507	231	S>F		No	ClinGen TOPMed gnomAD
rs778193665 CA10100533	233	N>H		No	ClinGen ExAC TOPMed gnomAD
rs993163121 CA322078179	241	G>R		No	ClinGen Ensembl
rs1601887284 CA410676058	242	V>G		No	ClinGen Ensembl
rs754488224 CA10100529	242	V>I		No	ClinGen ExAC gnomAD
CA410676051 rs1401165572	243	E>D		No	ClinGen gnomAD
CA410676056 rs1191434039	243	E>Q		No	ClinGen TOPMed
CA10100528 rs753377440	244	P>T		No	ClinGen ExAC gnomAD
rs756117733 CA10100526	245	S>R		No	ClinGen ExAC gnomAD
CA10100525 rs750388162	246	P>T		No	ClinGen ExAC TOPMed gnomAD
rs761515026 CA10100523	247	S>F		No	ClinGen ExAC TOPMed gnomAD
CA322078104 rs753177368	248	P>A		No	ClinGen TOPMed gnomAD
CA10100521 rs765469552	249	I>M		No	ClinGen ExAC gnomAD
CA10100522 rs752919426	249	I>V		No	ClinGen ExAC TOPMed gnomAD
CA10100519 rs776664735	253	D>G		No	ClinGen ExAC TOPMed gnomAD
COSM1032101 CA10100520 rs759807305	253	D>Y	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA410675987 rs771068726	254	I>S		No	ClinGen ExAC TOPMed gnomAD
CA10100518 rs771068726	254	I>T		No	ClinGen ExAC TOPMed gnomAD
CA410675953 rs1400480290	257	G>V		No	ClinGen gnomAD
CA410675944 rs1346922701	259	P>A		No	ClinGen gnomAD
TCGA novel	260	N>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1404005798 CA410675921	262	E>*		No	ClinGen TOPMed
rs1403723092 CA410675919	262	E>A		No	ClinGen gnomAD
TCGA novel	262	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10100494 rs772436238	264	K>Q		No	ClinGen ExAC gnomAD
TCGA novel	266	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA322077629 rs199863554	269	T>A		No	ClinGen Ensembl
CA410675866 rs1326099795	269	T>I		No	ClinGen TOPMed
CA410675850 rs1350977347	272	R>G		No	ClinGen TOPMed
rs762421866 CA10100493	275	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	276	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1053169950 CA322077612	278	V>A		No	ClinGen Ensembl
CA10100492 rs567211282	278	V>I		No	ClinGen 1000Genomes ExAC gnomAD
rs769199616 CA10100491	279	K>Q		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	280	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs748889125 CA410675793	281	V>F		No	ClinGen ExAC gnomAD
CA10100490 rs748889125	281	V>I		No	ClinGen ExAC gnomAD
rs1253989207 CA410674620	284	D>N		No	ClinGen TOPMed gnomAD
rs756284366 CA10100457	285	E>D		No	ClinGen ExAC
CA322071008 rs201706183	285	E>K		No	ClinGen 1000Genomes
CA410674575 rs1318968166	286	A>T		No	ClinGen Ensembl
rs1209216678 CA410674556	287	G>A		No	ClinGen gnomAD
rs112676353 CA322071000	290	F>S		No	ClinGen Ensembl
CA410674483 rs1282459290	291	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA10100455 rs767436592 COSM1032100	292	A>T	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA322070994 rs201641426	293	F>I		No	ClinGen ExAC gnomAD
CA10100454 rs201641426	293	F>L		No	ClinGen ExAC gnomAD
CA10100453 rs373777055	294	S>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs1301429545 CA410674287	301	R>C		No	ClinGen gnomAD
CA10100450 rs763599593	301	R>H		No	ClinGen ExAC TOPMed gnomAD
CA410674193 rs775969962	305	R>S		No	ClinGen ExAC gnomAD

No associated diseases with Q92890

No regional properties for Q92890

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for Q92890

Functions

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

5 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.
UFD1-NPL4 complex	A dimeric protein complex that contains the co-factors for the ATPase VCP/p97 (Cdc48p in budding yeast). In mammals, this complex consists of UFD1L (UFD1) and NPLOC4 (NPL4). In budding yeast, the complex is a dimer of Ufd1p and Npl4p.
VCP-NPL4-UFD1 AAA ATPase complex	A multiprotein ATPase complex required for the efficient dislocation of ER-lumenal degradation substrates, and their subsequent proteolysis by the proteasome. In budding yeast, this complex includes Cdc48p, Npl4p and Ufd1p proteins. In mammals, this complex includes a hexamer of VCP/p97 (a cytosolic ATPase) and trimers of each of its cofactors UFD1L and NPL4 (NPLOC4) (e.g. a 6:3:3 stoichiometry).

3 GO annotations of molecular function

Name	Definition
cysteine-type deubiquitinase activity	An thiol-dependent isopeptidase activity that cleaves ubiquitin from a target protein to which it is conjugated.
K48-linked polyubiquitin modification-dependent protein binding	Binding to a protein upon poly-ubiquitination formed by linkages between lysine residues at position 48 in the target protein.
polyubiquitin modification-dependent protein binding	Binding to a protein upon poly-ubiquitination of the target protein.

7 GO annotations of biological process

Name	Definition
ER-associated misfolded protein catabolic process	The chemical reactions and pathways resulting in the breakdown of misfolded proteins transported from the endoplasmic reticulum and targeted to cytoplasmic proteasomes for degradation.
negative regulation of RIG-I signaling pathway	Any process that stops, prevents, or reduces the frequency, rate or extent of the RIG-I signaling pathway.
negative regulation of type I interferon production	Any process that stops, prevents, or reduces the frequency, rate, or extent of type I interferon production. Type I interferons include the interferon-alpha, beta, delta, episilon, zeta, kappa, tau, and omega gene families.
retrograde protein transport, ER to cytosol	The directed movement of unfolded or misfolded proteins from the endoplasmic reticulum to the cytosol through the translocon.
skeletal system development	The process whose specific outcome is the progression of the skeleton over time, from its formation to the mature structure. The skeleton is the bony framework of the body in vertebrates (endoskeleton) or the hard outer envelope of insects (exoskeleton or dermoskeleton).
ubiquitin-dependent ERAD pathway	The series of steps necessary to target endoplasmic reticulum (ER)-resident proteins for degradation by the cytoplasmic proteasome. Begins with recognition of the ER-resident protein, includes retrotranslocation (dislocation) of the protein from the ER to the cytosol, protein ubiquitination necessary for correct substrate transfer, transport of the protein to the proteasome, and ends with degradation of the protein by the cytoplasmic proteasome.
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.

2 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P53044	UFD1	Ubiquitin fusion degradation protein 1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast)	PR
Q9VTF9	Ufd1-like	Ubiquitin fusion degradation protein 1 homolog	Drosophila melanogaster (Fruit fly)	PR

10	20	30	40	50	60
MFSFNMFDHP	IPRVFQNRFS	TQYRCFSVSM	LAGPNDRSDV	EKGGKIIMPP	SALDQLSRLN
70	80	90	100	110	120
ITYPMLFKLT	NKNSDRMTHC	GVLEFVADEG	ICYLPHWMMQ	NLLLEEGGLV	QVESVNLQVA
130	140	150	160	170	180
TYSKFQPQSP	DFLDITNPKA	VLENALRNFA	CLTTGDVIAI	NYNEKIYELR	VMETKPDKAV
190	200	210	220	230	240
SIIECDMNVD	FDAPLGYKEP	ERQVQHEEST	EGEADHSGYA	GELGFRAFSG	SGNRLDGKKK
250	260	270	280	290	300
GVEPSPSPIK	PGDIKRGIPN	YEFKLGKITF	IRNSRPLVKK	VEEDEAGGRF	VAFSGEGQSL

RKKGRKP