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The protein encoded by this gene forms a complex with two other proteins, nuclear protein localization-4 and valosin-containing protein, and this complex is necessary for the degradation of ubiquitinated proteins. In addition, this complex controls the disassembly of the mitotic spindle and the formation of a closed nuclear envelope after mitosis. Mutations in this gene have be... See more...
Aliases for UFD1 Gene
Aliases for UFD1 Gene
External Ids for UFD1 Gene
- HGNC: 12520
- Entrez Gene: 7353
- Ensembl: ENSG00000070010
- OMIM: 601754
- UniProtKB: Q92890
Previous HGNC Symbols for UFD1 Gene
- UFD1L
Summaries for UFD1 Gene
-
The protein encoded by this gene forms a complex with two other proteins, nuclear protein localization-4 and valosin-containing protein, and this complex is necessary for the degradation of ubiquitinated proteins. In addition, this complex controls the disassembly of the mitotic spindle and the formation of a closed nuclear envelope after mitosis. Mutations in this gene have been associated with Catch 22 syndrome as well as cardiac and craniofacial defects. Alternative splicing results in multiple transcript variants encoding different isoforms. A related pseudogene has been identified on chromosome 18. [provided by RefSeq, Jun 2009]
GeneCards Summary for UFD1 Gene
UFD1 (Ubiquitin Recognition Factor In ER Associated Degradation 1) is a Protein Coding gene. Diseases associated with UFD1 include Digeorge Syndrome and Velocardiofacial Syndrome. Among its related pathways are Metabolism of proteins and Translesion synthesis by Y family DNA polymerases bypasses lesions on DNA template.
UniProtKB/Swiss-Prot Summary for UFD1 Gene
-
Essential component of the ubiquitin-dependent proteolytic pathway which degrades ubiquitin fusion proteins. The ternary complex containing UFD1, 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-UFD1-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 (By similarity). Acts as a negative regulator of type I interferon production via the complex formed with VCP and NPLOC4, which binds to DDX58/RIG-I and recruits RNF125 to promote ubiquitination and degradation of DDX58/RIG-I (PubMed:26471729).
Additional gene information for UFD1 Gene
- HGNC(12520)
- Entrez Gene(7353)
- Ensembl(ENSG00000070010)
- OMIM(601754)
- UniProtKB(Q92890)
- Open Targets Platform(ENSG00000070010)
- Monarch Initiative
- Search for UFD1 at DataMed
- Search for UFD1 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for UFD1 Gene
Genomics for UFD1 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for UFD1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around UFD1 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for UFD1
Genomic Locations for UFD1 Gene
Genomic Locations for UFD1 Gene
- chr22:19,449,911-19,479,202
- (GRCh38/hg38)
- Size:
- 29,292 bases
- Orientation:
- Minus strand
- chr22:19,437,433-19,466,738
- (GRCh37/hg19)
- Size:
- 29,306 bases
- Orientation:
- Minus strand
Genomic View for UFD1 Gene
Genes around UFD1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 22q11.21 by HGNC
- 22q11.21 by Entrez Gene
- 22q11.21 by Ensembl
UFD1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for UFD1 Gene
Proteins for UFD1 Gene
-
Protein details for UFD1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q92890-UFD1_HUMAN
- Recommended name:
- Ubiquitin recognition factor in ER-associated degradation protein 1
- Protein Accession:
- Q92890
- A8MW31
- Q9Y5N0
Protein attributes for UFD1 Gene
- Size:
- 307 amino acids
- Molecular mass:
- 34500 Da
- Quaternary structure:
-
- Heterodimer with NPLOC4, this heterodimer binds VCP and inhibits Golgi membrane fusion (PubMed:11574150, PubMed:26471729). Interacts with USP13 (PubMed:21571647). Interacts with ZFAND2B; probably through VCP (PubMed:24160817).
- Miscellaneous:
-
- [Isoform Short]: Major isoform.
Post-translational modifications for UFD1 Gene
Other Protein References for UFD1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- G Biosciences Immunotag™ UFD1L Antibody
- HUABIO Anti-UFD1L Antibody
- Novus Biologicals Antibodies for UFD1
-
Abcam antibodies for UFD1
- Invitrogen Antibodies for UFD1 (AFLGC-UFD1)
- Sino Biological Antibodies for UFD1
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for UFD1
- Origene Custom Protein Services for UFD1
- ProSpec Recombinant Proteins for UFD1
- antibodies-online: Show 10 available UFD1L Proteins ranked by validation data
- Compare Top UFD1L Proteins
-
Quality Products:
-
Signalway Proteins for UFD1
-
Abcam proteins for UFD1
Assay Products
- antibodies-online: Show 2 available UFD1L Elisa Kits ranked by validation data
- Compare Top UFD1L Elisa Kits
-
Quality Products:
No data available for DME Specific Peptides for UFD1 Gene
Domains & Families for UFD1 Gene
Gene Families for UFD1 Gene
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
- Transporters
Protein Domains for UFD1 Gene
- InterPro:
- Blocks:
-
- Ubiquitin fusion degradation protein UFD1
- ProtoNet:
Suggested Antigen Peptide Sequences for UFD1 Gene
- GenScript: Design optimal peptide antigens:
-
- Ubiquitin fusion degradation 1-like (Q541A5_HUMAN)
- Ubiquitin fusion degradation protein 1 homolog (UFD1_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q92890- Family:
-
- Belongs to the UFD1 family.
Function for UFD1 Gene
Molecular function for UFD1 Gene
- UniProtKB/Swiss-Prot Function:
- Essential component of the ubiquitin-dependent proteolytic pathway which degrades ubiquitin fusion proteins. The ternary complex containing UFD1, 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-UFD1-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 (By similarity). Acts as a negative regulator of type I interferon production via the complex formed with VCP and NPLOC4, which binds to DDX58/RIG-I and recruits RNF125 to promote ubiquitination and degradation of DDX58/RIG-I (PubMed:26471729).
Phenotypes From GWAS Catalog for UFD1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004843 | thiol-dependent ubiquitin-specific protease activity | TAS | 9063746 |
| GO:0005102 | signaling receptor binding | IEA | -- |
| GO:0005515 | protein binding | IPI | 11574150 |
| GO:0031593 | polyubiquitin modification-dependent protein binding | IBA | 21873635 |
| GO:0036435 | K48-linked polyubiquitin modification-dependent protein binding | IEA | -- |
Phenotypes for UFD1 Gene
- MGI mutant phenotypes for UFD1:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for UFD1:
-
- no effect
- Decreased viability
- shRNA abundance <= 50%
- Increased G1 DNA content
- Decreased viability in glioblastoma multiforme (GBM) lineage
- Increased ionizing radiation sensitivity
- Decreased Dengue Infection
- Decreased infection with West Nile virus (WNV)
- Decreased West Nile virus (WNV) infection
- Negative genetic interaction between PTEN-/- and PTEN+/+
- G0/1 arrest
- Decreased caspase 3/7 activity
Animal Models for UFD1 Gene
- MGI Knock Outs for UFD1:
-
- Ufd1 Ufd1<tm1Bld>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for UFD1 - Select products 50% OFF >
- * UFD1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for UFD1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for UFD1
miRNA for UFD1 Gene
- miRTarBase miRNAs that target UFD1
-
- mmu-miR-188-5p (MIRT593612)
- mmu-miR-1199-5p (MIRT593613)
- mmu-miR-1935 (MIRT603135)
- mmu-miR-298-5p (MIRT603136)
- mmu-miR-709 (MIRT603137)
- mmu-miR-363-5p (MIRT603138)
- mmu-miR-876-5p (MIRT603139)
- mmu-miR-3089-5p (MIRT603140)
- mmu-miR-1195 (MIRT603141)
- hsa-miR-5584-3p (MIRT651886)
- hsa-miR-2681-5p (MIRT651887)
- hsa-miR-4659b-3p (MIRT651888)
- hsa-miR-4659a-3p (MIRT651889)
- hsa-miR-6875-3p (MIRT651890)
- hsa-miR-5006-3p (MIRT651891)
- hsa-miR-2909 (MIRT651892)
- hsa-miR-4755-5p (MIRT651893)
- hsa-miR-623 (MIRT651894)
- hsa-miR-1296-5p (MIRT651895)
- hsa-miR-6832-3p (MIRT651896)
- hsa-miR-3160-5p (MIRT651897)
- hsa-miR-3158-3p (MIRT651898)
- hsa-miR-4446-3p (MIRT651899)
- hsa-miR-5088-5p (MIRT651900)
- hsa-miR-204-5p (MIRT651901)
- hsa-miR-211-5p (MIRT651902)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for UFD1
- Browse OriGene Inhibitory RNA Products For UFD1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for UFD1
Clone Products
- Applied Biological Materials (abm): Clones for UFD1 - Select products 50% OFF >
- * UFD1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for UFD1
- Addgene plasmids for UFD1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for UFD1
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for UFD1 Gene
Localization for UFD1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for UFD1 Gene
- Nucleus. Cytoplasm, cytosol.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| endoplasmic reticulum | 5 |
| cytosol | 4 |
| mitochondrion | 3 |
| cytoskeleton | 2 |
| endosome | 2 |
| lysosome | 2 |
| golgi apparatus | 2 |
| plasma membrane | 1 |
| extracellular | 1 |
| peroxisome | 1 |
- Cytosol (2)
- Nucleoli (2)
- Nucleoplasm (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IEA,HDA | 21630459 |
| GO:0005654 | nucleoplasm | TAS | -- |
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005829 | cytosol | IEA | -- |
| GO:0034098 | VCP-NPL4-UFD1 AAA ATPase complex | IDA,ISS | -- |
Pathways & Interactions for UFD1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Translesion synthesis by Y family DNA polymerases bypasses lesions on DNA template | ||
| 2 | Deubiquitination |
.74
|
|
| 3 | Metabolism of proteins | ||
| 4 | Regulation of degradation of deltaF508 CFTR in CF |
Regulation of degradation of deltaF508 CFTR in CF
.58
|
Regulation of degradation of wt-CFTR
.58
|
| 5 | Protein processing in endoplasmic reticulum | ||
Pathways by source for UFD1 Gene
8 Reactome pathways for UFD1 Gene
1 KEGG pathway for UFD1 Gene
2 GeneGo (Thomson Reuters) pathways for UFD1 Gene
- Regulation of degradation of deltaF508 CFTR in CF
- Regulation of degradation of wt-CFTR
UniProtKB/Swiss-Prot Q92890-UFD1_HUMAN
- Pathway: Protein degradation; proteasomal ubiquitin-dependent pathway.
Interacting Proteins for UFD1 Gene
Selected Interacting proteins:
Q92890-UFD1_HUMAN
ENSP00000263202
for UFD1 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for UFD1
SIGNOR curated interactions for UFD1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001501 | skeletal system development | TAS | 10024240 |
| GO:0006511 | ubiquitin-dependent protein catabolic process | IEA,IMP | 26471729 |
| GO:0016579 | protein deubiquitination | TAS | -- |
| GO:0030433 | ubiquitin-dependent ERAD pathway | IBA | 21873635 |
| GO:0030970 | retrograde protein transport, ER to cytosol | IMP | 25660456 |
Transcripts for UFD1 Gene
mRNA/cDNA for UFD1 Gene
- 3 REFSEQ mRNAs :
- 20 NCBI additional mRNA sequence :
- 10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000263202 1791 nts (view in UCSC)
- ENST00000399523 1007 nts (view in UCSC)
- ENST00000421968 670 nts (view in UCSC)
- ENST00000447868 596 nts (view in UCSC)
- ENST00000459854 5038 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for UFD1 - Select products 50% OFF >
- * UFD1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for UFD1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for UFD1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for UFD1
- Browse OriGene Inhibitory RNA Products For UFD1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for UFD1
Clone Products
- Applied Biological Materials (abm): Clones for UFD1 - Select products 50% OFF >
- * UFD1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for UFD1
- Addgene plasmids for UFD1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for UFD1
Relevant External Links for UFD1 Gene
- GeneLoc Exon Structure for
- UFD1
Expression for UFD1 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for UFD1
mRNA Expression by UniProt/SwissProt for UFD1 Gene:
Q92890-UFD1_HUMAN
Tissue specificity:
Found in adult heart, skeletal muscle and pancreas, and in fetal liver and kidney.
Evidence on tissue expression from TISSUES for UFD1 Gene
- Nervous system(4.8)
- Skin(4.5)
- Heart(4.4)
- Pancreas(2.9)
- Kidney(2.4)
- Muscle(2.3)
- Liver(2.3)
- Lung(2.2)
- Intestine(2.2)
- Blood(2.2)
- Thyroid gland(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for UFD1 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- endocrine
- immune
- integumentary
- lymphatic
- nervous
- reproductive
- respiratory
- skeletal muscle
- skeleton
- urinary
Regions:
Head and neck:
- brain
- cheek
- chin
- cranial nerve
- ear
- eye
- eyelid
- face
- head
- hypothalamus
- jaw
- larynx
- lip
- mandible
- maxilla
- middle ear
- mouth
- neck
- nose
- outer ear
- parathyroid
- pharynx
- pituitary gland
- skull
- thyroid
- tongue
- tooth
- vocal cord
Thorax:
- aorta
- chest wall
- clavicle
- heart
- heart valve
- lung
- rib
- rib cage
- scapula
- sternum
- thymus
Abdomen:
- abdominal wall
- biliary tract
- gallbladder
- intestine
- kidney
- large intestine
- liver
- pancreas
- small intestine
Pelvis:
- pelvis
- rectum
- ureter
- uterus
Limb:
- ankle
- arm
- digit
- elbow
- femur
- fibula
- finger
- foot
- forearm
- hand
- hip
- humerus
- knee
- lower limb
- radius
- shin
- shoulder
- thigh
- tibia
- toe
- ulna
- upper limb
- wrist
General:
- blood
- blood vessel
- bone marrow
- coagulation system
- hair
- peripheral nerve
- peripheral nervous system
- red blood cell
- skin
- spinal column
- vertebrae
- white blood cell
Primer Products
-
OriGene qPCR primer pairs for UFD1
-
OriGene qPCR primer pairs and template standards for UFD1
No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for UFD1 Gene
Orthologs for UFD1 Gene
This gene was present in the common ancestor of eukaryotes.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Cow (Bos Taurus) |
Mammalia | UFD1L 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | UFD1L 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | UFD1L 30 31 |
|
OneToOne | |
| Chimpanzee (Pan troglodytes) |
Mammalia | UFD1L 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Ufd1l 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Ufd1l 30 31 |
|
OneToOne | |
| Ufd1 17 |
|
||||
| Platypus (Ornithorhynchus anatinus) |
Mammalia | UFD1L 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | UFD1L 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | UFD1L 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | ufd1l 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | ufd1l 30 31 |
|
OneToOne | |
| -- 30 |
|
||||
| Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.2823 30 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | Ufd1-like 30 31 |
|
OneToOne | |
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP001307 30 |
|
||
| Worm (Caenorhabditis elegans) |
Secernentea | ufd-1 30 31 |
|
OneToOne | |
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | UFD1 30 31 33 |
|
OneToOne | |
| K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0C02475g 30 |
|
||
| A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_AFR662C 30 |
|
||
| Thale Cress (Arabidopsis thaliana) |
eudicotyledons | UFD1 30 |
|
||
| Alicante grape (Vitis vinifera) |
eudicotyledons | Vvi.13110 30 |
|
||
| Soybean (Glycine max) |
eudicotyledons | Gma.5658 30 |
|
||
| Rice (Oryza sativa) |
Liliopsida | Os02g0181800 30 |
|
||
| Os.18010 30 |
|
||||
| Barley (Hordeum vulgare) |
Liliopsida | Hv.10937 30 |
|
||
| Wheat (Triticum aestivum) |
Liliopsida | Ta.7484 30 |
|
||
| Corn (Zea mays) |
Liliopsida | Zm.7574 30 |
|
||
| Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | ufd1 30 |
|
||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne | |
| Bread mold (Neurospora crassa) |
Ascomycetes | NCU06856 30 |
|
||
| Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.6884 30 |
|
- Species where no ortholog for UFD1 was found in the sources mined by GeneCards:
-
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Beta proteobacteria (Neisseria meningitidis)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
Evolution for UFD1 Gene
- ENSEMBL:
- Gene Tree for UFD1 (if available)
- TreeFam:
- Gene Tree for UFD1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for UFD1: view image
Paralogs for UFD1 Gene
Pseudogenes.org Pseudogenes for UFD1 Gene
No data available for Paralogs for UFD1 Gene
Variants for UFD1 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for UFD1 Gene
| SNP ID | Clinical significance and condition | Chr 22 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 745840 | Likely Benign: not provided | 19,467,953(-) | G/A | SYNONYMOUS_VARIANT | |
| 749117 | Likely Benign: not provided | 19,479,076(-) | C/T | FIVE_PRIME_UTR_VARIANT,INTRON_VARIANT | |
| 775448 | Likely Benign: not provided | 19,456,608(-) | A/G | SYNONYMOUS_VARIANT | |
| 786375 | Benign: not provided | 19,467,974(-) | G/A | SYNONYMOUS_VARIANT | |
| rs17744624 | - | p.Pro130Ala |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv2751940 | CNV | gain | 17911159 |
| esv3575418 | CNV | gain | 25503493 |
| esv3893434 | CNV | gain | 25118596 |
| nsv3558 | CNV | insertion | 18451855 |
| nsv588216 | CNV | gain | 21841781 |
| nsv834124 | CNV | loss | 17160897 |
| nsv834127 | CNV | loss | 17160897 |
Residual Variation Intolerance Score:
24.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
3.09;
50.86% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for UFD1 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for UFD1 Gene
Disorders for UFD1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| digeorge syndrome |
|
|
| velocardiofacial syndrome |
|
|
| multisystem proteinopathy |
|
|
| inclusion body myopathy with paget disease of bone and frontotemporal dementia |
|
|
| tetralogy of fallot |
|
|
Search UFD1 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for UFD1
No data available for UniProtKB/Swiss-Prot and Genatlas for UFD1 Gene
Publications for UFD1 Gene
- UFD1L, a developmentally expressed ubiquitination gene, is deleted in CATCH 22 syndrome. (PMID: 9063746) Pizzuti A … Dallapiccola B (Human molecular genetics 1997) 2 3 4 23
- Cloning and characterization of the gene encoding human NPL4, a protein interacting with the ubiquitin fusion-degradation protein (UFD1L). (PMID: 11574150) Botta A … Novelli G (Gene 2001) 3 4 23
- A non-canonical role of the p97 complex in RIG-I antiviral signaling. (PMID: 26471729) Hao Q … Zhou Z (The EMBO journal 2015) 3 4
- Ubiquitin-recognition protein Ufd1 couples the endoplasmic reticulum (ER) stress response to cell cycle control. (PMID: 21571647) Chen M … Ronai ZA (Proceedings of the National Academy of Sciences of the United States of America 2011) 3 4
- A family- and population-based study of the UFD1L gene for schizophrenia. (PMID: 18270977) Xie L … Wei J (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2008) 3 23
ExternalLinks
Products for UFD1 Gene
- Custom Antibody ServicesOriGene Antibodies for UFD1
- Browse OriGene ELISA Kits
- Custom Assay Services
- Search Origene for MassSpec and Protein Over-expression Lysates for UFD1
- Origene Custom Protein Services for UFD1
- Origene shrna, sirna, and RNAi products in human, mouse, rat for UFD1
- Browse OriGene Inhibitory RNA Products For UFD1
- OriGene qPCR primer pairs for UFD1
- OriGene qPCR primer pairs and template standards for UFD1
- OriGene CRISPR knockouts for UFD1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For UFD1
- Sino Biological Human cDNA Clone for UFD1
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Sino Biological Antibodies for UFD1
- Browse Sino Biological Assays
- Browse Antibodies
- Browse cDNA Clones
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for UFD1
- Novus Biologicals proteins and lysates for UFD1
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Abcam antibodies for UFD1
- Abcam proteins for UFD1
- Find your target
- Browse Primary Antibodies
- Browse Conjugated Primary Antibodies
- Browse Secondary Antibodies
- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- VectorBuilder Custom and pre-made DNA vectors for UFD1 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for UFD1 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for UFD1 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for UFD1 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for UFD1
- Addgene plasmids for UFD1
- antibodies-online: Show 25 available UFD1L Antibodies ranked by validation data
- Compare Top UFD1L Antibodies
- antibodies-online: Show 2 available UFD1L Elisa Kits ranked by validation data
- Compare Top UFD1L Elisa Kits
- Quality Products:
- antibodies-online: Show 10 available UFD1L Proteins ranked by validation data
- Compare Top UFD1L Proteins
- Quality Products:
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for UFD1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for UFD1
- Search GeneCopoeia for miRNA 3'UTR Target clone products for UFD1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for UFD1
Sources for UFD1 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB