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Aliases for UPF1 Gene

Aliases for UPF1 Gene

  • UPF1, RNA Helicase And ATPase 2 3 5
  • Regulator Of Nonsense Transcripts 1 2 3
  • Up-Frameshift Suppressor 1 Homolog 3 4
  • Nonsense MRNA Reducing Factor 1 3 4
  • ATP-Dependent Helicase RENT1 3 4
  • HUPF1 3 4
  • RENT1 3 4
  • NORF1 3 4
  • Smg-2 Homolog, Nonsense Mediated MRNA Decay Factor (C. Elegans) 2
  • UPF1 Regulator Of Nonsense Transcripts Homolog (Yeast) 2
  • Smg-2 Homolog, Nonsense Mediated MRNA Decay Factor 3
  • UPF1 Regulator Of Nonsense Transcripts Homolog 3
  • Up-Frameshift Mutation 1 Homolog 3
  • Yeast Upf1p Homolog 3
  • UP Frameshift 1 2
  • Delta Helicase 3
  • EC 3.6.4.- 4
  • KIAA0221 4
  • EC 3.6.1 56
  • PNORF1 3
  • Smg-2 3

External Ids for UPF1 Gene

Previous HGNC Symbols for UPF1 Gene

  • RENT1

Previous GeneCards Identifiers for UPF1 Gene

  • GC19P018804
  • GC19P018942
  • GC19P018507

Summaries for UPF1 Gene

Entrez Gene Summary for UPF1 Gene

  • This gene encodes a protein that is part of a post-splicing multiprotein complex involved in both mRNA nuclear export and mRNA surveillance. mRNA surveillance detects exported mRNAs with truncated open reading frames and initiates nonsense-mediated mRNA decay (NMD). When translation ends upstream from the last exon-exon junction, this triggers NMD to degrade mRNAs containing premature stop codons. This protein is located only in the cytoplasm. When translation ends, it interacts with the protein that is a functional homolog of yeast Upf2p to trigger mRNA decapping. Use of multiple polyadenylation sites has been noted for this gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

GeneCards Summary for UPF1 Gene

UPF1 (UPF1, RNA Helicase And ATPase) is a Protein Coding gene. Diseases associated with UPF1 include Amyotrophic Lateral Sclerosis 4, Juvenile and Ullrich Congenital Muscular Dystrophy 1. Among its related pathways are Gene Expression and Viral mRNA Translation. Gene Ontology (GO) annotations related to this gene include chromatin binding. An important paralog of this gene is HELZ2.

UniProtKB/Swiss-Prot for UPF1 Gene

  • RNA-dependent helicase and ATPase required for nonsense-mediated decay (NMD) of mRNAs containing premature stop codons. Is recruited to mRNAs upon translation termination and undergoes a cycle of phosphorylation and dephosphorylation; its phosphorylation appears to be a key step in NMD. Recruited by release factors to stalled ribosomes together with the SMG1C protein kinase complex to form the transient SURF (SMG1-UPF1-eRF1-eRF3) complex. In EJC-dependent NMD, the SURF complex associates with the exon junction complex (EJC) (located 50-55 or more nucleotides downstream from the termination codon) through UPF2 and allows the formation of an UPF1-UPF2-UPF3 surveillance complex which is believed to activate NMD. Phosphorylated UPF1 is recognized by EST1B/SMG5, SMG6 and SMG7 which are thought to provide a link to the mRNA degradation machinery involving exonucleolytic and endonucleolytic pathways, and to serve as adapters to protein phosphatase 2A (PP2A), thereby triggering UPF1 dephosphorylation and allowing the recycling of NMD factors. UPF1 can also activate NMD without UPF2 or UPF3, and in the absence of the NMD-enhancing downstream EJC indicative for alternative NMD pathways. Plays a role in replication-dependent histone mRNA degradation at the end of phase S; the function is independent of UPF2. For the recognition of premature termination codons (PTC) and initiation of NMD a competitive interaction between UPF1 and PABPC1 with the ribosome-bound release factors is proposed. The ATPase activity of UPF1 is required for disassembly of mRNPs undergoing NMD. Essential for embryonic viability.

Gene Wiki entry for UPF1 Gene

Additional gene information for UPF1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for UPF1 Gene

Genomics for UPF1 Gene

GeneHancer (GH) Regulatory Elements for UPF1 Gene

Promoters and enhancers for UPF1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19I018831 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 550.8 +1.4 1350 4 HDGF PKNOX1 ATF1 FOXA2 SIN3A POLR2B ZNF766 ELK1 ZNF207 ZNF143 UPF1 SUGP2 ZNF506 ENSG00000267481 ZNF14 ATP13A1 ENSG00000269694 GC19P020009 PIR45819
GH19I018587 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 78.2 -242.5 -242495 3.6 CLOCK MLX DMAP1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 SSRP1 ZNF610 REX1BD ENSG00000268030 UPF1 ENSG00000268938 NR2C2AP ENSG00000269191 MAU2 IQCN MEF2B ELL
GH19I018086 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 68.6 -742.6 -742620 5.9 HDGF PKNOX1 ZNF493 ZFP64 IRF4 ZNF48 TCF12 ZNF121 ZNF766 ZNF213 IL12RB1 ENSG00000268030 UPF1 IQCN GTPBP3 SUGP2 ENSG00000268938 ENSG00000269191 LOC100507551 ELL
GH19I017859 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 64.6 -969.1 -969113 7.3 HDGF HNRNPUL1 PKNOX1 FOXA2 SMAD1 ARID4B SIN3A DMAP1 ZNF2 YY1 RPL18A GC19P019761 GC19P019917 GC19P020083 GC19P020207 GC19P020222 PIR54406 PIR61491 SNORA68 ENSG00000268030
GH19I018277 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 48.7 -551.3 -551307 6.4 MLX FEZF1 DMAP1 YBX1 YY1 ZNF213 E2F8 ZNF143 SP3 NFYC JUND GC19P020223 PIR55689 MIR3188 IQCN UPF1 ENSG00000268030 ENSG00000268938 NR2C2AP ENSG00000269191
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around UPF1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the UPF1 gene promoter:

Genomic Locations for UPF1 Gene

Genomic Locations for UPF1 Gene
chr19:18,831,935-18,868,236
(GRCh38/hg38)
Size:
36,302 bases
Orientation:
Plus strand
chr19:18,942,744-18,979,045
(GRCh37/hg19)

Genomic View for UPF1 Gene

Genes around UPF1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
UPF1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for UPF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for UPF1 Gene

Proteins for UPF1 Gene

  • Protein details for UPF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q92900-RENT1_HUMAN
    Recommended name:
    Regulator of nonsense transcripts 1
    Protein Accession:
    Q92900
    Secondary Accessions:
    • O00239
    • O43343
    • Q86Z25
    • Q92842

    Protein attributes for UPF1 Gene

    Size:
    1129 amino acids
    Molecular mass:
    124345 Da
    Quaternary structure:
    • Found in a post-splicing messenger ribonucleoprotein (mRNP) complex (PubMed:21419344). Associates with the exon junction complex (EJC) (PubMed:11546874, PubMed:16452507). Associates with the SGM1C complex; is phosphorylated by the complex kinase component SGM1 (PubMed:19417104). Interacts with UPF2 (PubMed:11163187, PubMed:11073994, PubMed:11113196, PubMed:19556969). Interacts with UPF3A and UPF3B (PubMed:11163187). Interacts with EST1A (PubMed:12554878). Interacts with SLBP (PubMed:16086026). Interacts (when hyperphosphorylated) with PNRC2 (PubMed:19150429). Interacts with AGO1 and AGO2 (PubMed:17932509). Interacts with GSPT2 (PubMed:18447585). Interacts with isoform 1 and isoform 5 of ADAR/ADAR1 (PubMed:18362360). Interacts with SMG7 (PubMed:15721257). Interacts with ZC3H12A; this interaction occurs in a mRNA translationally active- and termination-dependent manner and is essential for ZC3H12A-mediated degradation of target mRNAs (PubMed:26000482).
    SequenceCaution:
    • Sequence=BAA19664.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for UPF1 Gene

    Alternative splice isoforms for UPF1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for UPF1 Gene

Selected DME Specific Peptides for UPF1 Gene

Q92900:
  • PSEQEQLRARQI
  • TGLKVVRLCAKSREA
  • GPPGTGKTV
  • LVCAPSN
  • PIRLQVQYRMHPALS
  • RGNTSGSHIVNHLVRAK
  • VWKSTSFDRMQ
  • LNRTEAANVEK
  • IILSCVR
  • KLEADYDK
  • FAVDETSVSGYIYH
  • ATLEDLEKPGVD
  • YEDAYQYQN
  • SATIVYHL
  • EHQGIGF
  • YHKLLGH
  • LKESQTQ

Post-translational modifications for UPF1 Gene

  • Phosphorylated by SMG1; required for formation of mRNA surveillance complexes.
  • Ubiquitination at posLast=220220, isoforms=2264, isoforms=2378, posLast=386386, isoforms=2439, isoforms=2587, isoforms=2638, posLast=688688, posLast=926926, and posLast=929929

Other Protein References for UPF1 Gene

Domains & Families for UPF1 Gene

Gene Families for UPF1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for UPF1 Gene

Suggested Antigen Peptide Sequences for UPF1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q92900

UniProtKB/Swiss-Prot:

RENT1_HUMAN :
  • The [ST]-Q motif constitutes a recognition sequence for kinases from the PI3/PI4-kinase family.
  • Belongs to the DNA2/NAM7 helicase family.
Domain:
  • The [ST]-Q motif constitutes a recognition sequence for kinases from the PI3/PI4-kinase family.
Family:
  • Belongs to the DNA2/NAM7 helicase family.
genes like me logo Genes that share domains with UPF1: view

Function for UPF1 Gene

Molecular function for UPF1 Gene

UniProtKB/Swiss-Prot Function:
RNA-dependent helicase and ATPase required for nonsense-mediated decay (NMD) of mRNAs containing premature stop codons. Is recruited to mRNAs upon translation termination and undergoes a cycle of phosphorylation and dephosphorylation; its phosphorylation appears to be a key step in NMD. Recruited by release factors to stalled ribosomes together with the SMG1C protein kinase complex to form the transient SURF (SMG1-UPF1-eRF1-eRF3) complex. In EJC-dependent NMD, the SURF complex associates with the exon junction complex (EJC) (located 50-55 or more nucleotides downstream from the termination codon) through UPF2 and allows the formation of an UPF1-UPF2-UPF3 surveillance complex which is believed to activate NMD. Phosphorylated UPF1 is recognized by EST1B/SMG5, SMG6 and SMG7 which are thought to provide a link to the mRNA degradation machinery involving exonucleolytic and endonucleolytic pathways, and to serve as adapters to protein phosphatase 2A (PP2A), thereby triggering UPF1 dephosphorylation and allowing the recycling of NMD factors. UPF1 can also activate NMD without UPF2 or UPF3, and in the absence of the NMD-enhancing downstream EJC indicative for alternative NMD pathways. Plays a role in replication-dependent histone mRNA degradation at the end of phase S; the function is independent of UPF2. For the recognition of premature termination codons (PTC) and initiation of NMD a competitive interaction between UPF1 and PABPC1 with the ribosome-bound release factors is proposed. The ATPase activity of UPF1 is required for disassembly of mRNPs undergoing NMD. Essential for embryonic viability.

Enzyme Numbers (IUBMB) for UPF1 Gene

Phenotypes From GWAS Catalog for UPF1 Gene

Gene Ontology (GO) - Molecular Function for UPF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0003682 chromatin binding IDA 16488880
GO:0003723 RNA binding NAS 10999600
GO:0004004 ATP-dependent RNA helicase activity TAS --
GO:0004386 helicase activity NAS 9064659
genes like me logo Genes that share ontologies with UPF1: view
genes like me logo Genes that share phenotypes with UPF1: view

Animal Models for UPF1 Gene

MGI Knock Outs for UPF1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for UPF1 Gene

Localization for UPF1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for UPF1 Gene

Cytoplasm. Cytoplasm, P-body. Nucleus. Note=Hyperphosphorylated form is targeted to the P-body, while unphosphorylated protein is distributed throughout the cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for UPF1 gene
Compartment Confidence
nucleus 5
cytosol 5
mitochondrion 1
peroxisome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for UPF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000784 nuclear chromosome, telomeric region IDA 21829167
GO:0000785 chromatin IDA 16488880
GO:0000932 P-body IEA --
GO:0005634 nucleus IDA,IEA 18362360
GO:0005654 nucleoplasm IDA --
genes like me logo Genes that share ontologies with UPF1: view

Pathways & Interactions for UPF1 Gene

genes like me logo Genes that share pathways with UPF1: view

SIGNOR curated interactions for UPF1 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for UPF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000184 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay TAS 8855285
GO:0000294 nuclear-transcribed mRNA catabolic process, endonucleolytic cleavage-dependent decay IMP 26255671
GO:0000956 nuclear-transcribed mRNA catabolic process IMP 23828042
GO:0006260 DNA replication IMP 16488880
GO:0006281 DNA repair IDA 16488880
genes like me logo Genes that share ontologies with UPF1: view

Drugs & Compounds for UPF1 Gene

(2) Drugs for UPF1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(2) Additional Compounds for UPF1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with UPF1: view

Transcripts for UPF1 Gene

Unigene Clusters for UPF1 Gene

UPF1 regulator of nonsense transcripts homolog (yeast):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for UPF1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b · 12c · 12d · 12e ^ 13a · 13b · 13c ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18 ^
SP1: - - - - - - -
SP2: - - - - - -
SP3:
SP4:
SP5:
SP6: - - - -
SP7: - - -
SP8: - -
SP9: -
SP10:
SP11: -
SP12:
SP13: - - - -

ExUns: 19 ^ 20 ^ 21 ^ 22a · 22b ^ 23a · 23b ^ 24 ^ 25a · 25b ^ 26a · 26b ^ 27 ^ 28 ^ 29 ^ 30 ^ 31
SP1: - - -
SP2: - - -
SP3: - -
SP4: - -
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12: -
SP13:

Relevant External Links for UPF1 Gene

GeneLoc Exon Structure for
UPF1
ECgene alternative splicing isoforms for
UPF1

Expression for UPF1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for UPF1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for UPF1 Gene

This gene is overexpressed in Lymph node (9.2) and Peripheral blood mononuclear cells (7.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for UPF1 Gene



Protein tissue co-expression partners for UPF1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of UPF1 Gene:

UPF1

SOURCE GeneReport for Unigene cluster for UPF1 Gene:

Hs.515266

mRNA Expression by UniProt/SwissProt for UPF1 Gene:

Q92900-RENT1_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for UPF1 Gene

  • Liver(4.5)
  • Heart(4.4)
  • Bone marrow(4.2)
  • Nervous system(3.8)
  • Lung(2.4)
  • Skin(2.2)
  • Eye(2.1)
  • Intestine(2)
genes like me logo Genes that share expression patterns with UPF1: view

Primer Products

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for UPF1 Gene

Orthologs for UPF1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for UPF1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia UPF1 33 34
  • 99.2 (n)
oppossum
(Monodelphis domestica)
Mammalia UPF1 34
  • 97 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia UPF1 34
  • 97 (a)
OneToOne
cow
(Bos Taurus)
Mammalia UPF1 33 34
  • 91.9 (n)
dog
(Canis familiaris)
Mammalia UPF1 33 34
  • 90.7 (n)
rat
(Rattus norvegicus)
Mammalia Upf1 33
  • 88.92 (n)
mouse
(Mus musculus)
Mammalia Upf1 33 16 34
  • 88.65 (n)
chicken
(Gallus gallus)
Aves UPF1 33 34
  • 80.68 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia upf1 33
  • 77.81 (n)
Str.19652 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.10547 33
zebrafish
(Danio rerio)
Actinopterygii upf1 33 34
  • 82.66 (n)
Dr.13594 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6509 33
fruit fly
(Drosophila melanogaster)
Insecta Upf1 33 34
  • 68.5 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001133 33
  • 63.93 (n)
worm
(Caenorhabditis elegans)
Secernentea smg-2 33 34
  • 54.63 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ABR022C 33
  • 58.67 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B06435g 33
  • 54.56 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes NAM7 33 34 36
  • 53.77 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons LBA1 33
  • 58.52 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.12563 33
rice
(Oryza sativa)
Liliopsida Os07g0495900 33
  • 60.13 (n)
Os.18837 33
barley
(Hordeum vulgare)
Liliopsida Hv.5158 33
wheat
(Triticum aestivum)
Liliopsida Ta.4661 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10770 34
  • 75 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU04242 33
  • 61.18 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes upf1 33
  • 54.57 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3923 33
Species where no ortholog for UPF1 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • lizard (Anolis carolinensis)
  • 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)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for UPF1 Gene

ENSEMBL:
Gene Tree for UPF1 (if available)
TreeFam:
Gene Tree for UPF1 (if available)

Paralogs for UPF1 Gene

Paralogs for UPF1 Gene

genes like me logo Genes that share paralogs with UPF1: view

Variants for UPF1 Gene

Sequence variations from dbSNP and Humsavar for UPF1 Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs760908706 uncertain-significance, Heterotaxy syndrome 18,868,731(+) G/A downstream_transcript_variant
rs768027510 likely-pathogenic, Heterotaxy syndrome 18,868,666(+) AAAGAA/AA downstream_transcript_variant
rs1000062904 -- 18,868,606(+) G/GG downstream_transcript_variant
rs1000085919 -- 18,867,968(+) C/T 3_prime_UTR_variant
rs1000114620 -- 18,851,918(+) G/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for UPF1 Gene

Variant ID Type Subtype PubMed ID
nsv952423 CNV deletion 24416366
nsv833777 CNV loss 17160897
nsv828477 CNV gain 20364138
nsv828474 CNV gain 20364138
nsv828473 CNV gain 20364138
nsv473427 CNV novel sequence insertion 20440878
nsv470132 CNV loss 18288195
nsv1151217 CNV deletion 26484159

Variation tolerance for UPF1 Gene

Residual Variation Intolerance Score: 1.14% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.22; 24.52% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for UPF1 Gene

Human Gene Mutation Database (HGMD)
UPF1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
UPF1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for UPF1 Gene

Disorders for UPF1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for UPF1 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
amyotrophic lateral sclerosis 4, juvenile
  • als4
ullrich congenital muscular dystrophy 1
  • ucmd1
juvenile amyotrophic lateral sclerosis
  • amyotrophic lateral sclerosis, juvenile
epidermolysis bullosa, junctional, non-herlitz type
  • epidermolysis bullosa junctionalis, non-herlitz type
long qt syndrome 2
  • long qt syndrome 9
- elite association - COSMIC cancer census association via MalaCards
Search UPF1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for UPF1

genes like me logo Genes that share disorders with UPF1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for UPF1 Gene

Publications for UPF1 Gene

  1. Cloning and characterization of HUPF1, a human homolog of the Saccharomyces cerevisiae nonsense mRNA-reducing UPF1 protein. (PMID: 9064659) Applequist SE … Jäck HM (Nucleic acids research 1997) 2 3 4 22 58
  2. Mammalian orthologues of a yeast regulator of nonsense transcript stability. (PMID: 8855285) Perlick HA … Dietz HC (Proceedings of the National Academy of Sciences of the United States of America 1996) 2 3 4 22 58
  3. Human proline-rich nuclear receptor coregulatory protein 2 mediates an interaction between mRNA surveillance machinery and decapping complex. (PMID: 19150429) Cho H … Kim YK (Molecular cell 2009) 3 4 22 58
  4. SMG-8 and SMG-9, two novel subunits of the SMG-1 complex, regulate remodeling of the mRNA surveillance complex during nonsense-mediated mRNA decay. (PMID: 19417104) Yamashita A … Ohno S (Genes & development 2009) 3 4 22 58
  5. A competition between stimulators and antagonists of Upf complex recruitment governs human nonsense-mediated mRNA decay. (PMID: 18447585) Singh G … Lykke-Andersen J (PLoS biology 2008) 3 4 22 58

Products for UPF1 Gene

  • Addgene plasmids for UPF1

Sources for UPF1 Gene

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