Aliases for PUS1 Gene
Aliases for PUS1 Gene
External Ids for PUS1 Gene
- HGNC: 15508
- Entrez Gene: 80324
- Ensembl: ENSG00000177192
- OMIM: 608109
- UniProtKB: Q9Y606
Previous GeneCards Identifiers for PUS1 Gene
- GC00U990923
- GC12M131701
- GC12P132294
- GC12P130908
- GC12P131080
- GC12P130980
- GC12P132413
- GC12P129299
Summaries for PUS1 Gene
-
This gene encodes a pseudouridine synthase that converts uridine to pseudouridine once it has been incorporated into an RNA molecule. The encoded enzyme may play an essential role in tRNA function and in stabilizing the secondary and tertiary structure of many RNAs. A mutation in this gene has been linked to mitochondrial myopathy and sideroblastic anemia. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Sep 2009]
GeneCards Summary for PUS1 Gene
PUS1 (Pseudouridylate Synthase 1) is a Protein Coding gene. Diseases associated with PUS1 include Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 and Sideroblastic Anemia. Among its related pathways are Gene Expression and tRNA processing. Gene Ontology (GO) annotations related to this gene include ligand-dependent nuclear receptor transcription coactivator activity.
UniProtKB/Swiss-Prot for PUS1 Gene
-
Converts specific uridines to PSI in a number of tRNA substrates. Acts on positions 27/28 in the anticodon stem and also positions 34 and 36 in the anticodon of an intron containing tRNA. Involved in regulation of nuclear receptor activity possibly through pseudouridylation of SRA1 RNA (By similarity).
Additional gene information for PUS1 Gene
- Monarch Initiative
- Search for PUS1 at DataMed
- Search for PUS1 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PUS1 Gene
Genomics for PUS1 Gene
GeneHancer (GH) Regulatory Elements for PUS1 Gene
Promoters and enhancers for PUS1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around PUS1 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the PUS1 gene promoter:
Regulatory Element Products
Genomic Locations for PUS1 Gene
Genomic Locations for PUS1 Gene
- chr12:131,929,200-131,945,896
- (GRCh38/hg38)
- Size:
- 16,697 bases
- Orientation:
- Plus strand
- chr12:132,413,745-132,428,406
- (GRCh37/hg19)
Genomic View for PUS1 Gene
Genes around PUS1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 12q24.33 by Ensembl
- 12q24.33 by Entrez Gene
- 12q24.33 by HGNC
PUS1 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 PUS1 Gene
Proteins for PUS1 Gene
-
Protein details for PUS1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9Y606-TRUA_HUMAN
- Recommended name:
- tRNA pseudouridine synthase A
- Protein Accession:
- Q9Y606
- A8K877
- B3KQC1
- Q8WYT2
- Q9BU44
Protein attributes for PUS1 Gene
- Size:
- 427 amino acids
- Molecular mass:
- 47470 Da
- Quaternary structure:
-
- Forms a complex with RARG and the SRA1 RNA in the nucleus.
Three dimensional structures from OCA and Proteopedia for PUS1 Gene
Protein Expression for PUS1 Gene
Post-translational modifications for PUS1 Gene
No Post-translational modifications
Other Protein References for PUS1 Gene
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for PUS1
- Novus Biologicals Antibodies for PUS1
-
Abcam antibodies for PUS1
-
Cloud-Clone Corp. Antibodies for PUS1
- Invitrogen Antibodies for PUS1
- GeneTex PUS1 antibody for PUS1
-
Santa Cruz Biotechnology (SCBT) Antibodies for PUS1
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for PUS1
- Origene Custom Protein Services for PUS1
-
Cloud-Clone Corp. Proteins for PUS1
- antibodies-online: Search results for 5 available PUS1 Proteins ranked by validation data
- Compare Top PUS1 Proteins
-
Quality Products:
- Search GeneTex for Proteins for PUS1
-
Abcam proteins for PUS1
Assay Products
- antibodies-online: Search results for available PUS1 related products ranked by validation data
No data available for DME Specific Peptides for PUS1 Gene
Domains & Families for PUS1 Gene
Gene Families for PUS1 Gene
- Human Protein Atlas (HPA):
-
- Disease related genes
- Enzymes
- Potential drug targets
- Predicted intracellular proteins
Protein Domains for PUS1 Gene
Suggested Antigen Peptide Sequences for PUS1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q9Y606- Family:
-
- Belongs to the tRNA pseudouridine synthase TruA family.
Function for PUS1 Gene
Molecular function for PUS1 Gene
- UniProtKB/Swiss-Prot CatalyticActivity:
- tRNA uridine(38-40) = tRNA pseudouridine(38-40).
- UniProtKB/Swiss-Prot Function:
- Converts specific uridines to PSI in a number of tRNA substrates. Acts on positions 27/28 in the anticodon stem and also positions 34 and 36 in the anticodon of an intron containing tRNA. Involved in regulation of nuclear receptor activity possibly through pseudouridylation of SRA1 RNA (By similarity).
Enzyme Numbers (IUBMB) for PUS1 Gene
Phenotypes From GWAS Catalog for PUS1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003723 | RNA binding | IEA,HDA | 22658674 |
| GO:0004730 | pseudouridylate synthase activity | NAS | 10094309 |
| GO:0009982 | pseudouridine synthase activity | IBA,IEA | -- |
| GO:0016853 | isomerase activity | IEA | -- |
Phenotypes for PUS1 Gene
- MGI mutant phenotypes for PUS1:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for PUS1:
Animal Models for PUS1 Gene
- MGI Knock Outs for PUS1:
-
- Pus1 tm1.1Mdf
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for PUS1
-
-
ViGene Biosciences lentiviral particle packaged cDNA for PUS1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for PUS1 gene
- Search ViGene Biosciences for PUS1
CRISPR Products
-
OriGene CRISPR knockouts for PUS1
- genomics-online: gRNA clones - Search results for available PUS1 gene related products
- Applied Biological Materials CRISPR for PUS1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for PUS1
- GenScript: Design CRISPR guide RNA sequences for PUS1
miRNA for PUS1 Gene
- miRTarBase miRNAs that target PUS1
miRNA Products
- Search ViGene Biosciences for PUS1
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for PUS1
- Browse OriGene Inhibitory RNA Products For PUS1
- genomics-online: shRNA clones - Search results for available PUS1 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for PUS1 gene
Clone Products
-
OriGene ORF clones in human for PUS1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for PUS1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for PUS1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- genomics-online: cdna clones - Search results for available PUS1 gene related products
- orf clones - Search results for available PUS1 gene related products
- Applied Biological Materials Clones for PUS1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for PUS1
-
ViGene Biosciences adenoviral particle packaged cDNA for PUS1 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for PUS1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for PUS1 gene
No data available for Transcription Factor Targets and HOMER Transcription for PUS1 Gene
Localization for PUS1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for PUS1 Gene
- Isoform 1: Mitochondrion.
- Isoform 2: Nucleus.
| Compartment | Confidence |
|---|---|
| mitochondrion | 5 |
| nucleus | 5 |
| peroxisome | 2 |
| cytosol | 1 |
- Mitochondria (3)
- Nucleus (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IDA | -- |
| GO:0005739 | mitochondrion | IDA | -- |
| GO:0005759 | mitochondrial matrix | TAS | -- |
Pathways & Interactions for PUS1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | tRNA processing |
.55
|
|
| 2 | Gene Expression |
.48
|
|
Pathways by source for PUS1 Gene
4 Reactome pathways for PUS1 Gene
Interacting Proteins for PUS1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0008033 | tRNA processing | IEA | -- |
| GO:0009451 | RNA modification | IEA | -- |
| GO:0031119 | tRNA pseudouridine synthesis | IBA | -- |
| GO:0070902 | mitochondrial tRNA pseudouridine synthesis | TAS | -- |
| GO:1990481 | mRNA pseudouridine synthesis | IBA | -- |
No data available for SIGNOR curated interactions for PUS1 Gene
Drugs & Compounds for PUS1 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Uridine | Experimental, Investigational | Pharma | 0 |
Transcripts for PUS1 Gene
mRNA/cDNA for PUS1 Gene
- (5) REFSEQ mRNAs :
- (8) Additional mRNA sequences :
- (183) Selected AceView cDNA sequences:
- (11) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for PUS1 Gene
CRISPR Products
-
OriGene CRISPR knockouts for PUS1
- genomics-online: gRNA clones - Search results for available PUS1 gene related products
- Applied Biological Materials CRISPR for PUS1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for PUS1
- GenScript: Design CRISPR guide RNA sequences for PUS1
miRNA Products
- Search ViGene Biosciences for PUS1
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for PUS1
- Browse OriGene Inhibitory RNA Products For PUS1
- genomics-online: shRNA clones - Search results for available PUS1 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for PUS1 gene
Clone Products
-
OriGene ORF clones in human for PUS1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for PUS1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for PUS1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- genomics-online: cdna clones - Search results for available PUS1 gene related products
- orf clones - Search results for available PUS1 gene related products
- Applied Biological Materials Clones for PUS1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2a | · | 2b | · | 2c | · | 2d | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | ^ | 9a | · | 9b |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||
| SP2: | - | - | - | ||||||||||||||||||||||||||||||||
| SP3: | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||
| SP4: | - | - | - | ||||||||||||||||||||||||||||||||
| SP5: | - | - | |||||||||||||||||||||||||||||||||
| SP6: | - | - | - | - | - | ||||||||||||||||||||||||||||||
| SP7: | - | - | - | - | - | - | |||||||||||||||||||||||||||||
| SP8: | - | - | - | - | |||||||||||||||||||||||||||||||
| SP9: | - | - | - | - | - | - | |||||||||||||||||||||||||||||
| SP10: |
Expression for PUS1 Gene
This gene is overexpressed in Peripheral blood mononuclear cells (18.6), Lung (18.5), and Blymphocyte (8.8).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PUS1 Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of PUS1 Gene:
PUS1SOURCE GeneReport for Unigene cluster for PUS1 Gene:
Hs.592004mRNA Expression by UniProt/SwissProt for PUS1 Gene:
Q9Y606-TRUA_HUMAN
Tissue specificity:
Widely expressed. High levels of expression found in brain and skeletal muscle.
Evidence on tissue expression from TISSUES for PUS1 Gene
- Liver(4.2)
- Lung(4.1)
Phenotype-based relationships between genes and organs from Gene ORGANizer for PUS1 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- endocrine
- immune
- integumentary
- nervous
- reproductive
- respiratory
- skeletal muscle
- skeleton
Regions:
Head and neck:
- brain
- chin
- cranial nerve
- eye
- eyelid
- face
- head
- jaw
- lip
- mandible
- maxilla
- mouth
- nose
- pharynx
- skull
Thorax:
- esophagus
- lung
- rib
- rib cage
Abdomen:
- liver
- stomach
Pelvis:
- fallopian tube
- ovary
- pelvis
- penis
- prostate
- testicle
- uterus
- vagina
- vas deferens
- vulva
Limb:
- lower limb
- upper limb
General:
- blood
- blood vessel
- bone marrow
- hair
- peripheral nervous system
- red blood cell
- skin
- spinal column
- vertebrae
- white blood cell
Primer Products
-
OriGene qPCR primer pairs for PUS1
-
OriGene qPCR primer pairs and template standards for PUS1
- genomics-online: primer clones - Search results for available PUS1 gene related products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for PUS1 Gene
Orthologs for PUS1 Gene
This gene was present in the common ancestor of eukaryotes.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | PUS1 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | PUS1 33 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Pus1 33 16 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Pus1 33 |
|
||
| dog (Canis familiaris) |
Mammalia | PUS1 33 34 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | PUS1 34 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | PUS1 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | PUS1 33 34 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | PUS1 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | pus1 33 |
|
||
| Str.9273 33 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.21080 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | pus1 33 34 |
|
||
| Dr.29119 33 |
|
||||
| rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.5299 33 |
|
||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP002409 33 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | CG4159 35 33 34 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | pus-1 33 34 |
|
||
| A. gosspyii yeast (Ashbya gossypii) |
Saccharomycetes | AGOS_AFL105C 33 |
|
||
| K. lactis yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0B02244g 33 |
|
||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | PUS1 33 34 36 |
|
||
| PUS2 34 |
|
OneToMany | |||
| thale cress (Arabidopsis thaliana) |
eudicotyledons | AT1G76120 33 |
|
||
| rice (Oryza sativa) |
Liliopsida | Os02g0668400 33 |
|
||
| bread mold (Neurospora crassa) |
Ascomycetes | NCU07528 33 |
|
||
| fission yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | pus1 33 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.1083 34 |
|
OneToOne |
- Species where no ortholog for PUS1 was found in the sources mined by GeneCards:
-
- Actinobacteria (Mycobacterium tuberculosis)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- barley (Hordeum vulgare)
- 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)
- 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)
- wheat (Triticum aestivum)
Paralogs for PUS1 Gene
(38) SIMAP similar genes for PUS1 Gene using alignment to 8 proteins:
No data available for Paralogs for PUS1 Gene
Variants for PUS1 Gene
| SNP ID | Clin | Chr 12 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1011262248 | uncertain-significance, Mitochondrial myopathy and sideroblastic anemia | 131,929,479(+) | G/C | 5_prime_UTR_variant, genic_upstream_transcript_variant, intron_variant, non_coding_transcript_variant, upstream_transcript_variant | |
| rs1034063837 | uncertain-significance, Mitochondrial myopathy and sideroblastic anemia | 131,929,457(+) | G/C/T | 5_prime_UTR_variant, genic_upstream_transcript_variant, intron_variant, non_coding_transcript_variant, upstream_transcript_variant | |
| rs104894371 | pathogenic, Myopathy, lactic acidosis, and sideroblastic anemia 1, Myopathy with lactic acidosis and sideroblastic anemia 1 (MLASA1) [MIM:600462] | 131,932,301(+) | C/T | coding_sequence_variant, missense_variant, non_coding_transcript_variant | |
| rs104894372 | pathogenic, Myopathy, lactic acidosis, and sideroblastic anemia 1 | 131,941,405(+) | G/T | coding_sequence_variant, genic_downstream_transcript_variant, non_coding_transcript_variant, stop_gained | |
| rs116003934 | benign, likely-benign, not specified, Mitochondrial myopathy and sideroblastic anemia | 131,943,602(+) | C/T | 3_prime_UTR_variant, genic_downstream_transcript_variant, non_coding_transcript_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| nsv942 | CNV | insertion | 18451855 |
| nsv826562 | CNV | loss | 20364138 |
| nsv826561 | CNV | gain | 20364138 |
| nsv560931 | CNV | loss | 21841781 |
| nsv560930 | CNV | loss | 21841781 |
| nsv560928 | CNV | gain | 21841781 |
| nsv560927 | CNV | gain | 21841781 |
| nsv455804 | CNV | loss | 19166990 |
| nsv455803 | CNV | gain | 19166990 |
| nsv1145645 | CNV | deletion | 24896259 |
| esv3631282 | CNV | gain | 21293372 |
| esv3631281 | CNV | gain | 21293372 |
| esv2751042 | CNV | gain | 17911159 |
| esv2746908 | CNV | deletion | 23290073 |
Residual Variation Intolerance Score:
29.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
3.60;
56.36% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for PUS1 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PUS1 Gene
Disorders for PUS1 Gene
(7) MalaCards diseases for PUS1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| myopathy, lactic acidosis, and sideroblastic anemia 1 |
|
|
| sideroblastic anemia |
|
|
| lactic acidosis |
|
|
| mitochondrial myopathy |
|
|
| myopathy |
|
Search PUS1 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
TRUA_HUMAN- Myopathy with lactic acidosis and sideroblastic anemia 1 (MLASA1) [MIM:600462]: A rare oxidative phosphorylation disorder specific to skeletal muscle and bone marrow. Affected individuals manifest progressive muscle weakness, exercise intolerance, lactic acidosis, sideroblastic anemia and delayed growth. {ECO:0000269 PubMed:15108122, ECO:0000269 PubMed:16959974, ECO:0000269 PubMed:19731322}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for PUS1
No data available for Genatlas for PUS1 Gene
Publications for PUS1 Gene
- Cloning and characterization of a mammalian pseudouridine synthase. (PMID: 10094309) Chen J … Patton JR (RNA (New York, N.Y.) 1999) 2 3 4 22 58
- Systematic molecular genetic analysis of congenital sideroblastic anemia: evidence for genetic heterogeneity and identification of novel mutations. (PMID: 19731322) Bergmann AK … Neufeld EJ (Pediatric blood & cancer 2010) 3 4 22 58
- Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA). (PMID: 17056637) Fernandez-Vizarra E … Zeviani M (Journal of medical genetics 2007) 3 4 22 58
- Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA). (PMID: 15108122) Bykhovskaya Y … Fischel-Ghodsian N (American journal of human genetics 2004) 3 4 22 58
- Partial activity is seen with many substitutions of highly conserved active site residues in human Pseudouridine synthase 1. (PMID: 18648068) Sibert BS … Patton JR (RNA (New York, N.Y.) 2008) 3 22 58
Products for PUS1 Gene
- Browse R&D Systems for Antibodies
- Browse R&D Systems for Human Recombinant Proteins
- Browse R&D Systems for biochemical assays
- Browse Human Proteins and Enzymes
- Browse Primary Antibodies
- Browse Proteins and Enzymes
- Browse ELISAs
- Browse Activity Assays
- Browse cDNA Clones
- Browse Cell Culture Products
- Browse Cell Selection and Detection Kits
- Browse DNA Damage and Repair Kits
- Browse ELISpot/FluoroSpot Kits and Development Modules
- Browse Flow Cytometry Kits
- Browse Immunoprecipitation Assays
- Browse Luminex Assays
- Browse Peptides
- Browse Proteome Profiler Antibody Arrays
- Browse Small Molecules
- Custom Antibody ServicesOriGene Antibodies for PUS1
- Browse OriGene ELISA Kits
- Custom Assay Services
- Search Origene for MassSpec and Protein Over-expression Lysates for PUS1
- Origene Custom Protein Services for PUS1
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PUS1
- Browse OriGene Inhibitory RNA Products For PUS1
- OriGene qPCR primer pairs and template standards for PUS1
- OriGene qPCR primer pairs for PUS1
- OriGene CRISPR knockouts for PUS1
- OriGene ORF clones in human for PUS1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For PUS1
- GenScript: Next-day shipping of latest version cDNA ORF clones for PUS1 in any vector
- GenScript Custom Purified and Recombinant Proteins Services for PUS1
- GenScript Custom Assay Services for PUS1
- GenScript Custom overexpressing Cell Line Services for PUS1
- GenScript: Design CRISPR guide RNA sequences for PUS1
- Design optimal peptide antigens
- CloneReady with Over 120,000 Genes
- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
- Plasmid Preparation
- GenScript Custom Peptide Services for PUS1
- Browse Sino Biological cDNA Clones
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse Sino Biological ELISA Kits
- Browse Sino Biological ELISA Pair Sets
- Browse Sino Biological CRO Services
- Browse Sino Biological Control Vectors
- Sino Biological Transfection Reagent
- Sino Biological Anti-His Tag Antibody
- Novus Biologicals Antibodies for PUS1
- Novus Biologicals lysates and proteins for PUS1
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Abcam antibodies for PUS1
- Abcam proteins for PUS1
- 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
- Cloud-Clone Corp. Antibodies for PUS1
- Cloud-Clone Corp. Proteins for PUS1
- Browse Assay Kits at Cloud-Clone Corp.
- Browse Knockouts at Cloud-Clone Corp.
- Browse Knockins at Cloud-Clone Corp.
- Cloud-Clone Corp. disease models service
- Browse cDNA clones at Cloud-Clone Corp.
- Browse primers at Cloud-Clone Corp.
- Cloud-Clone Corp. primary cells service
- Invitrogen Antibodies for PUS1
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Cyagen custom Knockout/knockin (KOKI) mouse models for PUS1
- VectorBuilder custom plasmid, inducible vectors for PUS1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for PUS1
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- antibodies-online: Search results for 47 available PUS1 Antibodies ranked by validation data
- Compare Top PUS1 Antibodies
- Quality Products:
- antibodies-online: Search results for available PUS1 related products ranked by validation data
- antibodies-online: Search results for 5 available PUS1 Proteins ranked by validation data
- Compare Top PUS1 Proteins
- Quality Products:
- GeneTex PUS1 antibody for PUS1
- Search GeneTex for Proteins for PUS1
- ViGene Biosciences adenoviral particle packaged cDNA for PUS1 gene
- ViGene Biosciences lentiviral particle packaged cDNA for PUS1 gene
- ViGene Biosciences ready-to-package AAV shRNAs for PUS1 gene
- Search ViGene Biosciences for PUS1
- Santa Cruz Biotechnology (SCBT) Antibodies for PUS1
- Search Santa Cruz Biotechnology (SCBT) for PUS1 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for PUS1
- Horizon Cell Lines for PUS1
- genomics-online: cdna clones - Search results for available PUS1 gene related products
- orf clones - Search results for available PUS1 gene related products
- genomics-online: gRNA clones - Search results for available PUS1 gene related products
- genomics-online: primer clones - Search results for available PUS1 gene related products
- genomics-online: shRNA clones - Search results for available PUS1 gene related products
Sources for PUS1 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew