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Protein

Ubiquitin fusion degradation protein 1 homolog

Gene

UFD1L

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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.

Pathwayi: proteasomal ubiquitin-dependent pathway

This protein is involved in the pathway proteasomal ubiquitin-dependent pathway, which is part of Protein degradation.
View all proteins of this organism that are known to be involved in the pathway proteasomal ubiquitin-dependent pathway and in Protein degradation.

GO - Molecular functioni

  • thiol-dependent ubiquitin-specific protease activity Source: ProtInc

GO - Biological processi

  • ER-associated misfolded protein catabolic process Source: ParkinsonsUK-UCL
  • error-free translesion synthesis Source: Reactome
  • retrograde protein transport, ER to cytosol Source: ParkinsonsUK-UCL
  • skeletal system development Source: ProtInc
  • ubiquitin-dependent protein catabolic process Source: ProtInc
Complete GO annotation...

Keywords - Biological processi

Ubl conjugation pathway

Enzyme and pathway databases

ReactomeiR-HSA-110320. Translesion Synthesis by POLH.
R-HSA-5689880. Ub-specific processing proteases.
UniPathwayiUPA00144.

Names & Taxonomyi

Protein namesi
Recommended name:
Ubiquitin fusion degradation protein 1 homolog
Short name:
UB fusion protein 1
Gene namesi
Name:UFD1L
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 22

Organism-specific databases

HGNCiHGNC:12520. UFD1L.

Subcellular locationi

GO - Cellular componenti

  • cytosol Source: UniProtKB-SubCell
  • nucleoplasm Source: Reactome
  • nucleus Source: UniProtKB
  • UFD1-NPL4 complex Source: ParkinsonsUK-UCL
  • VCP-NPL4-UFD1 AAA ATPase complex Source: ParkinsonsUK-UCL
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi7353.
MalaCardsiUFD1L.
OpenTargetsiENSG00000070010.
Orphaneti567. 22q11.2 deletion syndrome.
PharmGKBiPA37167.

Polymorphism and mutation databases

BioMutaiUFD1L.
DMDMi160332310.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001949841 – 307Ubiquitin fusion degradation protein 1 homologAdd BLAST307

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei1N-acetylmethionineCombined sources1
Modified residuei129PhosphoserineCombined sources1
Modified residuei231PhosphoserineCombined sources1
Modified residuei245PhosphoserineCombined sources1
Modified residuei247PhosphoserineCombined sources1
Modified residuei299PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiQ92890.
PaxDbiQ92890.
PeptideAtlasiQ92890.
PRIDEiQ92890.

2D gel databases

OGPiQ92890.

PTM databases

iPTMnetiQ92890.
PhosphoSitePlusiQ92890.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiENSG00000070010.
CleanExiHS_UFD1L.
ExpressionAtlasiQ92890. baseline and differential.
GenevisibleiQ92890. HS.

Organism-specific databases

HPAiHPA030287.
HPA055579.

Interactioni

Subunit structurei

Heterodimer with NPLOC4, this heterodimer binds VCP and inhibits Golgi membrane fusion. Interacts with USP13.2 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
NPLOC4Q8TAT64EBI-1994090,EBI-1994109

Protein-protein interaction databases

BioGridi113200. 96 interactors.
DIPiDIP-45954N.
IntActiQ92890. 32 interactors.
MINTiMINT-2837704.
STRINGi9606.ENSP00000263202.

Structurei

Secondary structure

1307
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi16 – 18Combined sources3
Beta strandi20 – 26Combined sources7
Beta strandi31 – 35Combined sources5
Turni39 – 44Combined sources6
Beta strandi45 – 47Combined sources3
Helixi50 – 58Combined sources9
Beta strandi66 – 71Combined sources6
Turni72 – 75Combined sources4
Beta strandi76 – 84Combined sources9
Beta strandi91 – 93Combined sources3
Helixi97 – 102Combined sources6
Beta strandi108 – 115Combined sources8
Beta strandi121 – 129Combined sources9
Helixi130 – 134Combined sources5
Helixi138 – 146Combined sources9
Beta strandi157 – 164Combined sources8
Beta strandi166 – 181Combined sources16
Beta strandi188 – 191Combined sources4

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2YUJNMR-A11-193[»]
5C1BX-ray3.08U/V221-241[»]
ProteinModelPortaliQ92890.
SMRiQ92890.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ92890.

Family & Domainsi

Sequence similaritiesi

Belongs to the UFD1 family.Curated

Phylogenomic databases

eggNOGiKOG1816. Eukaryota.
COG5140. LUCA.
GeneTreeiENSGT00390000002408.
HOGENOMiHOG000212737.
HOVERGENiHBG001266.
InParanoidiQ92890.
KOiK14016.
OMAiADHSSYA.
OrthoDBiEOG091G0KO7.
PhylomeDBiQ92890.
TreeFamiTF314581.

Family and domain databases

InterProiIPR004854. UFD1.
[Graphical view]
PANTHERiPTHR12555. PTHR12555. 1 hit.
PfamiPF03152. UFD1. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform Short (identifier: Q92890-2) [UniParc]FASTAAdd to basket

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.

« Hide

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

RKKGRKP
Note: Major isoform.
Length:307
Mass (Da):34,500
Last modified:November 13, 2007 - v3
Checksum:iFC69860002C042C6
GO
Isoform Long (identifier: Q92890-1) [UniParc]FASTAAdd to basket

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

Show »
Length:343
Mass (Da):38,725
Checksum:i94D55B70E7F5A27F
GO
Isoform 3 (identifier: Q92890-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     267-307: Missing.

Note: No experimental confirmation available.
Show »
Length:266
Mass (Da):29,901
Checksum:i8CE8E9AE3BF71ED6
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti25C → R in AK225877 (Ref. 4) Curated1
Sequence conflicti33G → W in AAD08720 (PubMed:9063746).Curated1
Sequence conflicti183I → H in AAD08720 (PubMed:9063746).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_052436130P → A.1 PublicationCorresponds to variant rs17744624dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_006707106E → EDGLVQLETVNLQVATYSKS KFCYLPHWMMQNLLLEE in isoform Long. 1 Publication1
Alternative sequenceiVSP_045044267 – 307Missing in isoform 3. 1 PublicationAdd BLAST41

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U64444 mRNA. Translation: AAD08720.1.
AF141201 mRNA. Translation: AAD28788.1.
CR456607 mRNA. Translation: CAG30493.1.
AK225877 mRNA. No translation available.
AC000068 Genomic DNA. No translation available.
AC000087 Genomic DNA. No translation available.
BC001049 mRNA. Translation: AAH01049.1.
BC005087 mRNA. Translation: AAH05087.1.
CCDSiCCDS13761.1. [Q92890-2]
CCDS33600.2. [Q92890-3]
RefSeqiNP_001030324.2. NM_001035247.2. [Q92890-3]
NP_005650.2. NM_005659.6. [Q92890-2]
UniGeneiHs.474213.

Genome annotation databases

EnsembliENST00000263202; ENSP00000263202; ENSG00000070010. [Q92890-2]
ENST00000399523; ENSP00000382439; ENSG00000070010. [Q92890-3]
GeneIDi7353.
KEGGihsa:7353.
UCSCiuc002zpm.3. human. [Q92890-2]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U64444 mRNA. Translation: AAD08720.1.
AF141201 mRNA. Translation: AAD28788.1.
CR456607 mRNA. Translation: CAG30493.1.
AK225877 mRNA. No translation available.
AC000068 Genomic DNA. No translation available.
AC000087 Genomic DNA. No translation available.
BC001049 mRNA. Translation: AAH01049.1.
BC005087 mRNA. Translation: AAH05087.1.
CCDSiCCDS13761.1. [Q92890-2]
CCDS33600.2. [Q92890-3]
RefSeqiNP_001030324.2. NM_001035247.2. [Q92890-3]
NP_005650.2. NM_005659.6. [Q92890-2]
UniGeneiHs.474213.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2YUJNMR-A11-193[»]
5C1BX-ray3.08U/V221-241[»]
ProteinModelPortaliQ92890.
SMRiQ92890.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi113200. 96 interactors.
DIPiDIP-45954N.
IntActiQ92890. 32 interactors.
MINTiMINT-2837704.
STRINGi9606.ENSP00000263202.

PTM databases

iPTMnetiQ92890.
PhosphoSitePlusiQ92890.

Polymorphism and mutation databases

BioMutaiUFD1L.
DMDMi160332310.

2D gel databases

OGPiQ92890.

Proteomic databases

EPDiQ92890.
PaxDbiQ92890.
PeptideAtlasiQ92890.
PRIDEiQ92890.

Protocols and materials databases

DNASUi7353.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000263202; ENSP00000263202; ENSG00000070010. [Q92890-2]
ENST00000399523; ENSP00000382439; ENSG00000070010. [Q92890-3]
GeneIDi7353.
KEGGihsa:7353.
UCSCiuc002zpm.3. human. [Q92890-2]

Organism-specific databases

CTDi7353.
DisGeNETi7353.
GeneCardsiUFD1L.
HGNCiHGNC:12520. UFD1L.
HPAiHPA030287.
HPA055579.
MalaCardsiUFD1L.
MIMi601754. gene.
neXtProtiNX_Q92890.
OpenTargetsiENSG00000070010.
Orphaneti567. 22q11.2 deletion syndrome.
PharmGKBiPA37167.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1816. Eukaryota.
COG5140. LUCA.
GeneTreeiENSGT00390000002408.
HOGENOMiHOG000212737.
HOVERGENiHBG001266.
InParanoidiQ92890.
KOiK14016.
OMAiADHSSYA.
OrthoDBiEOG091G0KO7.
PhylomeDBiQ92890.
TreeFamiTF314581.

Enzyme and pathway databases

UniPathwayiUPA00144.
ReactomeiR-HSA-110320. Translesion Synthesis by POLH.
R-HSA-5689880. Ub-specific processing proteases.

Miscellaneous databases

ChiTaRSiUFD1L. human.
EvolutionaryTraceiQ92890.
GeneWikiiUFD1L.
GenomeRNAii7353.
PROiQ92890.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000070010.
CleanExiHS_UFD1L.
ExpressionAtlasiQ92890. baseline and differential.
GenevisibleiQ92890. HS.

Family and domain databases

InterProiIPR004854. UFD1.
[Graphical view]
PANTHERiPTHR12555. PTHR12555. 1 hit.
PfamiPF03152. UFD1. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiUFD1_HUMAN
AccessioniPrimary (citable) accession number: Q92890
Secondary accession number(s): A8MW31, Q9Y5N0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: November 13, 2007
Last modified: November 30, 2016
This is version 142 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 22
    Human chromosome 22: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  7. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.