[1]	NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS LONG AND SHORT), AND VARIANT ALA-130. TISSUE=Brain; DOI=10.1093/hmg/6.2.259; PubMed=9063746 [NCBI, ExPASy, EBI, Israel, Japan] Pizzuti A., Novelli G., Ratti A., Amati F., Mari A., Calabrese G., Nicolis S., Silani V., Marino B., Scarlato G., Ottolenghi S., Dallapiccola B.; "UFD1L, a developmentally expressed ubiquitination gene, is deleted in CATCH 22 syndrome."; Hum. Mol. Genet. 6:259-265(1997).
[2]	NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM SHORT). TISSUE=Heart; Gong L., Yeh E.T.H.; "Characterization of human UFD1, a ubiquitin fusion-degradation protein."; Submitted (APR-1999) to the EMBL/GenBank/DDBJ databases.
[3]	NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM SHORT). DOI=10.1186/gb-2004-5-10-r84; PubMed=15461802 [NCBI, ExPASy, EBI, Israel, Japan] Collins J.E., Wright C.L., Edwards C.A., Davis M.P., Grinham J.A., Cole C.G., Goward M.E., Aguado B., Mallya M., Mokrab Y., Huckle E.J., Beare D.M., Dunham I.; "A genome annotation-driven approach to cloning the human ORFeome."; Genome Biol. 5:RESEARCH84.1-RESEARCH84.11(2004).
[4]	NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM SHORT). TISSUE=Brain, and Skin; DOI=10.1101/gr.2596504; PubMed=15489334 [NCBI, ExPASy, EBI, Israel, Japan] The MGC Project Team; "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."; Genome Res. 14:2121-2127(2004).
[5]	INTERACTION WITH NPLOC4. DOI=10.1016/S0378-1119(01)00649-7; PubMed=11574150 [NCBI, ExPASy, EBI, Israel, Japan] Botta A., Tandoi C., Fini G., Calabrese G., Dallapiccola B., Novelli G.; "Cloning and characterization of the gene encoding human NPL4, a protein interacting with the ubiquitin fusion-degradation protein (UFD1L)."; Gene 275:39-46(2001).
[6]	PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-247, AND MASS SPECTROMETRY. TISSUE=Epithelium; DOI=10.1021/pr070152u; PubMed=17924679 [NCBI, ExPASy, EBI, Israel, Japan] Yu L.-R., Zhu Z., Chan K.C., Issaq H.J., Dimitrov D.S., Veenstra T.D.; "Improved titanium dioxide enrichment of phosphopeptides from HeLa cells and high confident phosphopeptide identification by cross-validation of MS/MS and MS/MS/MS spectra."; J. Proteome Res. 6:4150-4162(2007).
[7]	PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-299, AND MASS SPECTROMETRY. DOI=10.1073/pnas.0611217104; PubMed=17287340 [NCBI, ExPASy, EBI, Israel, Japan] Molina H., Horn D.M., Tang N., Mathivanan S., Pandey A.; "Global proteomic profiling of phosphopeptides using electron transfer dissociation tandem mass spectrometry."; Proc. Natl. Acad. Sci. U.S.A. 104:2199-2204(2007).
[8]	PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-245; SER-247 AND SER-299, AND MASS SPECTROMETRY. DOI=10.1073/pnas.0805139105; PubMed=18669648 [NCBI, ExPASy, EBI, Israel, Japan] Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.; "A quantitative atlas of mitotic phosphorylation."; Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008).
[9]	IDENTIFICATION [LARGE SCALE ANALYSIS], AND MASS SPECTROMETRY. Colinge J., Superti-Furga G., Bennett K.L.; Submitted (OCT-2008) to UniProtKB.
[10]	STRUCTURE BY NMR OF 11-193. RIKEN structural genomics initiative (RSGI); "Solution structure of human ubiquitin fusion degradation protein 1 homolog UFD1."; Submitted (APR-2008) to the PDB data bank.

Comments

FUNCTION: Essential component of the ubiquitin-dependent proteolytic pathway which degrades ubiquitin fusion proteins. The ternary complex containing UFD1L, VCP and NPLOC4 binds ubiquitinated proteins and is necessary for the export of misfolded proteins from the ER to the cytoplasm, where they are degraded by the proteasome. The NPLOC4-UFD1L-VCP complex regulates spindle disassembly at the end of mitosis and is necessary for the formation of a closed nuclear envelope. It may be involved in the development of some ectoderm-derived structures.
PATHWAY: Protein degradation; proteasomal ubiquitin-dependent pathway .
SUBUNIT: Heterodimer with NPLOC4, this heterodimer binds VCP and inhibits Golgi membrane fusion.
SUBCELLULAR LOCATION: Nucleus (By similarity). Cytoplasm, cytosol (By similarity).

ALTERNATIVE PRODUCTS: 2 named isoforms [FASTA] produced by alternative splicing.

Name	Short
Isoform ID	Q92890-2
Note: Major isoform.
This is the isoform sequence displayed in this entry.

Name	Long
Isoform ID	Q92890-1
Features which should be applied to build the isoform sequence: VSP_006707.

TISSUE SPECIFICITY: Found in adult heart, skeletal muscle and pancreas, and in fetal liver and kidney.
DISEASE: UFD1L gene hemizygosity is the cause of some of the catch 22-associated developmental defects whose notable examples are the DiGeorge syndrome (DGS), the velo-cardio-facial syndrome (VCFS) and the Opitz G/BBB syndrome.
SIMILARITY: Belongs to the UFD1 family.

Copyright

Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms. Distributed under the Creative Commons Attribution-NoDerivs License.

Cross-references

Sequence databases

EMBL

U64444; AAD08720.1; -; mRNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
AF141201; AAD28788.1; -; mRNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
CR456607; CAG30493.1; -; mRNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
BC001049; AAH01049.1; -; mRNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
BC005087; AAH05087.1; -; mRNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]

IPI

IPI00218292; -.
IPI00655754; -.

RefSeq

NP_005650.2; -.

UniGene

Hs.474213

3D structure databases

PDB

2YUJ; NMR; -; A=11-193.

[ExPASy / RCSB / EBI]

PDBsum

2YUJ; -.

ModBase

Q92890.

Protein-protein interaction databases

IntAct

Q92890; 10.

PTM databases

PhosphoSite

Q92890; -.

2D gel databases

OGP

Q92890; -.

Organism-specific databases

GC22M017812; -.

HIX0016237; -.

HGNC:12520; UFD1L.

601754; gene. [NCBI / EBI]

Orphanet

567; Monosomy 22q11.

PharmGKB

PA37167; -.

Gene expression databases

ArrayExpress

Q92890; -.

Bgee

Q92890; -.

CleanEx

HS_UFD1L; -.

Ontologies

GO:0005829;	Cellular component: cytosol (inferred from electronic annotation from UniProtKB-SubCell).
GO:0005634;	Cellular component: nucleus (inferred from electronic annotation from UniProtKB-SubCell).
GO:0005515;	Molecular function: protein binding (inferred from physical interaction from UniProtKB).
GO:0004843;	Molecular function: ubiquitin-specific protease activity (traceable author statement from ProtInc).
GO:0001501;	Biological process: skeletal system development (traceable author statement from ProtInc).
GO:0006511;	Biological process: ubiquitin-dependent protein catabolic process (traceable author statement from ProtInc).
QuickGo view.

Family and domain databases

InterPro

IPR004854; UFD1.
Graphical view of domain structure.

Pfam

PF03152; UFD1; 1.
Pfam graphical view of domain structure.

Proteomic databases

PRIDE

Q92890; -.

Genome annotation databases

Ensembl

ENSG00000070010; Homo sapiens. [Contig view]

GeneID

7353; -.

Phylogenomic databases

HOVERGEN

Q92890; -.

Other

28788; -.

UFD1L; Homo sapiens.

View cluster of proteins with at least 50% / 90% / 100% identity.

Keywords

3D-structure; Alternative splicing; Cytoplasm; Nucleus; Phosphoprotein; Polymorphism; Ubl conjugation pathway.

Features

Feature table viewer

`Key`	`From To`	`Length`	`Description`	`FTId`
`CHAIN`	`1 307`	`307`	`Ubiquitin fusion degradation protein 1 homolog.`	`PRO_0000194984`
`MOD_RES`	`245 245`		`Phosphoserine.`
`MOD_RES`	`247 247`		`Phosphoserine.`
`MOD_RES`	`299 299`		`Phosphoserine.`
`VAR_SEQ`	`106 106`		`E -> EDGLVQLETVNLQVATYSKSKFCYLPHWMMQNLLLEE (in isoform Long).`	`VSP_006707`
`VARIANT`	`130 130`	`1`	`P -> A (in dbSNP:rs17744624 [NCBI]).`	`VAR_052436`
`CONFLICT`	`33 33`		`G -> W (in Ref. 1; AAD08720).`
`CONFLICT`	`183 183`		`I -> H (in Ref. 1; AAD08720).`
`STRAND`	`16 18`	`3`
`STRAND`	`20 26`	`7`
`STRAND`	`31 35`	`5`
`TURN`	`39 44`	`6`
`STRAND`	`45 47`	`3`
`HELIX`	`50 58`	`9`
`STRAND`	`66 71`	`6`
`TURN`	`72 75`	`4`
`STRAND`	`76 84`	`9`
`STRAND`	`91 93`	`3`
`HELIX`	`97 102`	`6`
`STRAND`	`108 115`	`8`
`STRAND`	`121 129`	`9`
`HELIX`	`130 134`	`5`
`HELIX`	`138 146`	`9`
`STRAND`	`157 164`	`8`
`STRAND`	`166 181`	`16`
`STRAND`	`188 191`	`4`

Sequence information

Length: 307 AA [This is the length of the unprocessed precursor]

Molecular weight: 34500 Da [This is the MW of the unprocessed precursor]

CRC64: FC69860002C042C6 [This is a checksum on the sequence]

        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

Q92890 in FASTA format

View entry in raw text format (no links)
Report form for errors/updates in this UniProtKB/Swiss-Prot entry

	BLAST submission on ExPASy/SIB or at NCBI (USA)		Sequence analysis tools: ProtParam, ProtScale, Compute pI/Mw, PeptideMass, PeptideCutter, Dotlet (Java)
	ScanProsite, MotifScan		Submit a homology modeling request to SWISS-MODEL
	NPSA Sequence analysis tools