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Q92890 (UFD1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified January 25, 2012. Version 95. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (7) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Ubiquitin fusion degradation protein 1 homolog

Short name=UB fusion protein 1
Gene names
Name:UFD1L
OrganismHomo sapiens (Human)
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length307 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (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 structure

Heterodimer with NPLOC4, this heterodimer binds VCP and inhibits Golgi membrane fusion.

Subcellular location

Nucleus By similarity. Cytoplasmcytosol By similarity.

Tissue specificity

Found in adult heart, skeletal muscle and pancreas, and in fetal liver and kidney.

Sequence similarities

Belongs to the UFD1 family.

Ontologies

Keywords
   Biological processUbl conjugation pathway
   Cellular componentCytoplasm
Nucleus
   Coding sequence diversityAlternative splicing
Polymorphism
   PTMAcetylation
Phosphoprotein
   Technical term3D-structure
Complete proteome
Reference proteome
Gene Ontology (GO)
   Biological processskeletal system development

Traceable author statement. Source: ProtInc

ubiquitin-dependent protein catabolic process

Traceable author statement. Source: ProtInc

   Cellular componentcytosol

Inferred from electronic annotation. Source: UniProtKB-SubCell

nucleus

Inferred from electronic annotation. Source: UniProtKB-SubCell

   Molecular functionprotein binding

Inferred from physical interaction. Source: UniProtKB

ubiquitin-specific protease activity

Traceable author statement. Source: ProtInc

Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform Short (identifier: Q92890-2)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Note: Major isoform.
Isoform Long (identifier: Q92890-1)

The sequence of this isoform differs from the canonical sequence as follows:
     106-106: E → EDGLVQLETVNLQVATYSKSKFCYLPHWMMQNLLLEE

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 307307Ubiquitin fusion degradation protein 1 homolog
PRO_0000194984

Amino acid modifications

Modified residue11N-acetylmethionine Ref.10
Modified residue2451Phosphoserine Ref.9
Modified residue2471Phosphoserine Ref.6 Ref.9
Modified residue2991Phosphoserine Ref.7 Ref.8 Ref.9 Ref.11

Natural variations

Alternative sequence1061E → EDGLVQLETVNLQVATYSKS KFCYLPHWMMQNLLLEE in isoform Long.
VSP_006707
Natural variant1301P → A. Ref.1
Corresponds to variant rs17744624 [ dbSNP | Ensembl ].
VAR_052436

Experimental info

Sequence conflict331G → W in AAD08720. Ref.1
Sequence conflict1831I → H in AAD08720. Ref.1

Secondary structure

................................. 307
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Isoform Short [UniParc].

Last modified November 13, 2007. Version 3.
Checksum: FC69860002C042C6

FASTA30734,500
        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 

« Hide

Isoform Long [UniParc].

Checksum: 94D55B70E7F5A27F
Show »

FASTA34338,725

References

« Hide 'large scale' references
[1]"UFD1L, a developmentally expressed ubiquitination gene, is deleted in CATCH 22 syndrome."
Pizzuti A., Novelli G., Ratti A., Amati F., Mari A., Calabrese G., Nicolis S., Silani V., Marino B., Scarlato G., Ottolenghi S., Dallapiccola B.
Hum. Mol. Genet. 6:259-265(1997) [PubMed: 9063746] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS LONG AND SHORT), VARIANT ALA-130.
Tissue: Brain.
[2]"Characterization of human UFD1, a ubiquitin fusion-degradation protein."
Gong L., Yeh E.T.H.
Submitted (APR-1999) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM SHORT).
Tissue: Heart.
[3]"A genome annotation-driven approach to cloning the human ORFeome."
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.
Genome Biol. 5:R84.1-R84.11(2004) [PubMed: 15461802] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM SHORT).
[4]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM SHORT).
Tissue: Brain and Skin.
[5]"Cloning and characterization of the gene encoding human NPL4, a protein interacting with the ubiquitin fusion-degradation protein (UFD1L)."
Botta A., Tandoi C., Fini G., Calabrese G., Dallapiccola B., Novelli G.
Gene 275:39-46(2001) [PubMed: 11574150] [Abstract]
Cited for: INTERACTION WITH NPLOC4.
[6]"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."
Yu L.-R., Zhu Z., Chan K.C., Issaq H.J., Dimitrov D.S., Veenstra T.D.
J. Proteome Res. 6:4150-4162(2007) [PubMed: 17924679] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-247, MASS SPECTROMETRY.
Tissue: Cervix carcinoma.
[7]"Global proteomic profiling of phosphopeptides using electron transfer dissociation tandem mass spectrometry."
Molina H., Horn D.M., Tang N., Mathivanan S., Pandey A.
Proc. Natl. Acad. Sci. U.S.A. 104:2199-2204(2007) [PubMed: 17287340] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-299, MASS SPECTROMETRY.
Tissue: Embryonic kidney.
[8]"Phosphorylation analysis of primary human T lymphocytes using sequential IMAC and titanium oxide enrichment."
Carrascal M., Ovelleiro D., Casas V., Gay M., Abian J.
J. Proteome Res. 7:5167-5176(2008) [PubMed: 19367720] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-299, MASS SPECTROMETRY.
Tissue: T-cell.
[9]"A quantitative atlas of mitotic phosphorylation."
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed: 18669648] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-245; SER-247 AND SER-299, MASS SPECTROMETRY.
Tissue: Cervix carcinoma.
[10]"Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
Anal. Chem. 81:4493-4501(2009) [PubMed: 19413330] [Abstract]
Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT MET-1, MASS SPECTROMETRY.
Tissue: Embryonic kidney.
[11]"Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
Sci. Signal. 2:RA46-RA46(2009) [PubMed: 19690332] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-299, MASS SPECTROMETRY.
Tissue: Leukemic T-cell.
[12]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed: 21269460] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[13]"Solution structure of human ubiquitin fusion degradation protein 1 homolog UFD1."
RIKEN structural genomics initiative (RSGI)
Submitted (APR-2008) to the PDB data bank
Cited for: STRUCTURE BY NMR OF 11-193.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
U64444 mRNA. Translation: AAD08720.1.
AF141201 mRNA. Translation: AAD28788.1.
CR456607 mRNA. Translation: CAG30493.1.
BC001049 mRNA. Translation: AAH01049.1.
BC005087 mRNA. Translation: AAH05087.1.
IPIIPI00218292.
IPI00655754.
RefSeqNP_005650.2. NM_005659.6.
UniGeneHs.474213.

3D structure databases

PDBe
RCSB PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
2YUJNMR-A11-193[»]
ProteinModelPortalQ92890.
SMRQ92890. Positions 11-193.
ModBaseSearch...

Protein-protein interaction databases

IntActQ92890. 15 interactions.
MINTMINT-2837704.
STRINGQ92890.

PTM databases

PhosphoSiteQ92890.

Polymorphism databases

DMDM160332310.

2D gel databases

OGPQ92890.

Proteomic databases

PRIDEQ92890.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000263202; ENSP00000263202; ENSG00000070010.
GeneID7353.
KEGGhsa:7353.
UCSCuc002zpm.1. human.

Organism-specific databases

CTD7353.
GeneCardsGC22M019437.
H-InvDBHIX0016237.
HGNCHGNC:12520. UFD1L.
HPAHPA030287.
MIM601754. gene.
neXtProtNX_Q92890.
Orphanet567. Monosomy 22q11.
GenAtlasSearch...

Phylogenomic databases

GeneTreeENSGT00390000002408.
HOVERGENHBG001266.
OrthoDBEOG4H9XKW.
PhylomeDBQ92890.

Gene expression databases

ArrayExpressQ92890.
BgeeQ92890.
CleanExHS_UFD1L.
GenevestigatorQ92890.

Family and domain databases

InterProIPR004854. UFD1.
[Graphical view]
KOK14016.
PANTHERPTHR12555. UFD1. 1 hit.
PfamPF03152. UFD1. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

NextBio28788.
SOURCESearch...

Entry information

Entry nameUFD1_HUMAN
AccessionPrimary (citable) accession number: Q92890
Secondary accession number(s): Q9Y5N0
Entry history
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: November 13, 2007
Last modified: January 25, 2012
This is version 95 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

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Human chromosome 22: entries, gene names and cross-references to MIM

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List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

PATHWAY comments

Index of metabolic and biosynthesis pathways

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

SIMILARITY comments

Index of protein domains and families