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PUS1 Gene(Protein Coding)

Pseudouridylate Synthase 1

GCID:
GC12P131929
GIFtS:
49
Genes Participants
UDN Logo

Aliases for PUS1 Gene

Aliases for PUS1 Gene

  • Pseudouridylate Synthase 1 2 3 5
  • TRNA Pseudouridine(38-40) Synthase 2 3 4
  • TRNA Pseudouridylate Synthase I 3 4
  • TRNA Pseudouridine Synthase A, Mitochondrial 3
  • Mitochondrial TRNA Pseudouridine Synthase A 3
  • TRNA Pseudouridine Synthase A 3
  • TRNA Uridine Isomerase I 3
  • TRNA-Uridine Isomerase I 4
  • EC 5.4.99.12 4
  • MLASA1 3

External Ids for PUS1 Gene

Previous GeneCards Identifiers for PUS1 Gene

  • GC00U990923
  • GC12M131701
  • GC12P132294
  • GC12P130908
  • GC12P131080
  • GC12P130980
  • GC12P132413
  • GC12P129299

Summaries for PUS1 Gene

Entrez Gene Summary 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 tRNA processing and Gene Expression. 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 through pseudouridylation of SRA1 RNA.

Gene Wiki entry for PUS1 Gene

Additional gene information for PUS1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PUS1 Gene

Genomics for PUS1 Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for PUS1 Gene

Promoters and enhancers for PUS1 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
GH12J131927 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 667.3 +0.0 23 3.3 HDGF MLX ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B E2F8 ZNF207 PUS1 ENSG00000255992 EP400 GOLGA3 EP400P1 NOC4L ANKLE2 SFSWAP DDX51 POLE
GH12J132827 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 20.7 +899.3 899283 2.6 CLOCK MLX FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 GOLGA3 ANKLE2 ZNF140 ZNF26 EP400 NOC4L CHFR ZNF891 POLE ZNF268
GH12J132487 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.6 +562.9 562878 9.3 FOXA2 ARID4B NEUROD1 SIN3A ZBTB7B IRF4 ZNF48 YY1 TCF12 GLIS2 FBRSL1 ANKLE2 EP400P1 ENSG00000256875 NOC4L POLE ZNF891 CHFR ZNF140 EP400
GH12J131709 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 9.8 -217.8 -217820 2.8 HDGF PKNOX1 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B IRF4 SFSWAP EP400 NOC4L DDX51 EP400P1 FBRSL1 PUS1 ENSG00000255933
GH12J131871 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 11.9 -56.6 -56618 2.8 PKNOX1 NFIB NEUROD1 SIN3A ZBTB7B ZNF280A FOS RCOR1 SMARCA5 SMARCC1 MMP17 PUS1 ENSG00000255992 EP400 RNU6-1017P SFSWAP ULK1 ENSG00000256955
- 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:
  • Tal-1beta
  • E47
  • Pax-3
  • LCR-F1
  • SRF (504 AA)
  • SRF
  • STAT1
  • STAT1alpha
  • STAT1beta
  • AML1a

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)
Size:
14,662 bases
Orientation:
Plus strand

Genomic View for PUS1 Gene

Genes around PUS1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PUS1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PUS1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for PUS1 Gene

Proteins for PUS1 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for PUS1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y606-TRUA_HUMAN
    Recommended name:
    tRNA pseudouridine synthase A
    Protein Accession:
    Q9Y606
    Secondary Accessions:
    • A8K877
    • B3KQC1
    • Q8WYT2
    • Q9BU44

    Protein attributes for PUS1 Gene

    Size:
    427 amino acids
    Molecular mass:
    47470 Da
    Quaternary structure:
    • Monomer (PubMed:23707380, PubMed:24722331). Forms a complex with RARG and the SRA1 RNA in the nucleus (By similarity).

    Three dimensional structures from OCA and Proteopedia for PUS1 Gene

    Alternative splice isoforms for PUS1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PUS1 Gene

Protein Expression for PUS1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for PUS1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PUS1 Gene

ENSEMBL proteins:
REFSEQ proteins:

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

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for PUS1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9Y606

UniProtKB/Swiss-Prot:

TRUA_HUMAN :
  • Belongs to the tRNA pseudouridine synthase TruA family.
Family:
  • Belongs to the tRNA pseudouridine synthase TruA family.
genes like me logo Genes that share domains with PUS1: view

Function for PUS1 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for PUS1 Gene

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 through pseudouridylation of SRA1 RNA.
UniProtKB/Swiss-Prot CatalyticActivity:
tRNA uridine(38-40) = tRNA pseudouridine(38-40).

Enzyme Numbers (IUBMB) for PUS1 Gene

Phenotypes From GWAS Catalog for PUS1 Gene

Gene Ontology (GO) - Molecular Function 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 --
genes like me logo Genes that share ontologies with PUS1: view
genes like me logo Genes that share phenotypes with PUS1: view

Human Phenotype Ontology for PUS1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PUS1 Gene

MGI Knock Outs for PUS1:
  • Pus1 Pus1<tm1.1Mdf>

Animal Model Products

  • Taconic Biosciences Mouse Models for PUS1

CRISPR Products

miRNA for PUS1 Gene

miRTarBase miRNAs that target PUS1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PUS1

Clone Products

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.

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 PUS1 gene
Compartment Confidence
mitochondrion 5
nucleus 5
peroxisome 2
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (3)
  • Nucleus (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PUS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005739 mitochondrion IDA --
GO:0005759 mitochondrial matrix TAS --
genes like me logo Genes that share ontologies with PUS1: view

Pathways & Interactions for PUS1 Gene

genes like me logo Genes that share pathways with PUS1: view

Gene Ontology (GO) - Biological Process 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 --
genes like me logo Genes that share ontologies with PUS1: view

No data available for SIGNOR curated interactions for PUS1 Gene

Drugs & Compounds for PUS1 Gene

Products:

  1. Drug

(1) Drugs for PUS1 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Uridine Experimental, Investigational Pharma 0

(2) Additional Compounds for PUS1 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pseudouridine
  • (1S)-1,4-anhydro-1-(2,4-dioxo-1,2,3,4-Tetrahydropyrimidin-5-yl)-D-ribitol
  • 5-(beta-D-Ribofuranosyl)uracil
  • beta-Pseudouridine
  • p
  • Psi-uridine
 1445-07-4
genes like me logo Genes that share compounds with PUS1: view

Transcripts for PUS1 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

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

Pseudouridylate synthase 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PUS1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PUS1 Gene

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:

Relevant External Links for PUS1 Gene

GeneLoc Exon Structure for
PUS1
ECgene alternative splicing isoforms for
PUS1

Expression for PUS1 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PUS1 Gene

mRNA expression in normal human tissues for PUS1 Gene
mRNA expression by BioGPS for PUS1 GenemRNA expression by GTEx for PUS1 Gene

Protein differential expression in normal tissues from HIPED 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, MaxQB, and MOPED for PUS1 Gene



Protein tissue co-expression partners for PUS1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PUS1 Gene:

PUS1

SOURCE GeneReport for Unigene cluster for PUS1 Gene:

Hs.592004

mRNA 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
genes like me logo Genes that share expression patterns with PUS1: view

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.

Orthologs for PUS1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia PUS1 34 33
  • 98.75 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia PUS1 34 33
  • 82.73 (n)
 OneToOne
mouse
(Mus musculus)
 Mammalia Pus1 16 34 33
  • 82.09 (n)
rat
(Rattus norvegicus)
 Mammalia Pus1 33
  • 81.85 (n)
dog
(Canis familiaris)
 Mammalia PUS1 34 33
  • 81.42 (n)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia PUS1 34
  • 70 (a)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia PUS1 34
  • 66 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves PUS1 34 33
  • 74.73 (n)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia PUS1 34
  • 73 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia pus1 33
  • 65.59 (n)
Str.9273 33
African clawed frog
(Xenopus laevis)
 Amphibia Xl.21080 33
zebrafish
(Danio rerio)
 Actinopterygii pus1 34 33
  • 65.36 (n)
 OneToOne
Dr.29119 33
rainbow trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.5299 33
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP002409 33
  • 57.61 (n)
fruit fly
(Drosophila melanogaster)
 Insecta CG4159 34 35 33
  • 57.37 (n)
 OneToOne
worm
(Caenorhabditis elegans)
 Secernentea pus-1 34 33
  • 49.54 (n)
 OneToOne
A. gosspyii yeast
(Ashbya gossypii)
 Saccharomycetes AGOS_AFL105C 33
  • 53.57 (n)
K. lactis yeast
(Kluyveromyces lactis)
 Saccharomycetes KLLA0B02244g 33
  • 46.39 (n)
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes PUS1 36 34 33
  • 46.14 (n)
PUS2 34
  • 29 (a)
 OneToMany
thale cress
(Arabidopsis thaliana)
 eudicotyledons AT1G76120 33
  • 50.45 (n)
rice
(Oryza sativa)
 Liliopsida Os02g0668400 33
  • 47.68 (n)
bread mold
(Neurospora crassa)
 Ascomycetes NCU07528 33
  • 56.67 (n)
fission yeast
(Schizosaccharomyces pombe)
 Schizosaccharomycetes pus1 33
  • 45.01 (n)
sea squirt
(Ciona savignyi)
 Ascidiacea CSA.1083 34
  • 32 (a)
 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)

Evolution for PUS1 Gene

ENSEMBL:
Gene Tree for PUS1 (if available)
TreeFam:
Gene Tree for PUS1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PUS1: view image

Paralogs for PUS1 Gene

(38) SIMAP similar genes for PUS1 Gene using alignment to 8 proteins:

  • TRUA_HUMAN
  • F5GXL3_HUMAN
  • F5GY32_HUMAN
  • F5H168_HUMAN
  • F5H1B2_HUMAN
  • F5H1S9_HUMAN
  • F8W9U5_HUMAN
  • G8JLB3_HUMAN
genes like me logo Genes that share paralogs with PUS1: view

No data available for Paralogs for PUS1 Gene

Variants for PUS1 Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar 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

Structural Variations from Database of Genomic Variants (DGV) for PUS1 Gene

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

Variation tolerance for PUS1 Gene

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

Human Gene Mutation Database (HGMD)
PUS1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PUS1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PUS1 Gene

Disorders for PUS1 Gene

MalaCards: The human disease database

(7) MalaCards diseases for PUS1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
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

ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with PUS1: view

No data available for Genatlas for PUS1 Gene

Publications for PUS1 Gene

  1. 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
  2. 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
  3. 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
  4. 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
  5. Steroid receptor RNA activator (SRA) modification by the human pseudouridine synthase 1 (hPus1p): RNA binding, activity, and atomic model. (PMID: 24722331) Huet T … Thore S (PloS one 2014) 3 4 58

Products for PUS1 Gene

Sources for PUS1 Gene

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