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PUS1 pseudouridine synthase 1 [ Homo sapiens (human) ]

Gene ID: 80324, updated on 1-Jun-2020

Summary

Official Symbol
PUS1provided by HGNC
Official Full Name
pseudouridine synthase 1provided by HGNC
Primary source
HGNC:HGNC:15508
See related
Ensembl:ENSG00000177192 MIM:608109
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MLASA1
Summary
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]
Expression
Ubiquitous expression in appendix (RPKM 5.5), lymph node (RPKM 5.4) and 25 other tissues See more
Orthologs

Genomic context

See PUS1 in Genome Data Viewer
Location:
12q24.33
Exon count:
10
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (131929268..131945896)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (132413745..132428406)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene unc-51 like autophagy activating kinase 1 Neighboring gene uncharacterized LOC107984455 Neighboring gene E1A binding protein p400 Neighboring gene small nucleolar RNA, H/ACA box 49 Neighboring gene EP400 pseudogene 1 Neighboring gene uncharacterized LOC107987169

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC11268

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA binding HDA PubMed 
pseudouridine synthase activity EXP
Inferred from Experiment
more info
PubMed 
pseudouridine synthase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
pseudouridine synthase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
steroid receptor RNA activator RNA binding IDA
Inferred from Direct Assay
more info
PubMed 
tRNA binding IDA
Inferred from Direct Assay
more info
PubMed 
tRNA pseudouridine synthase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
mRNA pseudouridine synthesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrial tRNA pseudouridine synthesis TAS
Traceable Author Statement
more info
 
tRNA pseudouridine synthesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
mitochondrial matrix TAS
Traceable Author Statement
more info
 
mitochondrion IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
tRNA pseudouridine synthase A
Names
mitochondrial tRNA pseudouridine synthase A
pseudouridylate synthase 1
tRNA pseudouridine synthase A, mitochondrial
tRNA pseudouridine(38-40) synthase
tRNA pseudouridylate synthase I
tRNA uridine isomerase I
NP_001002019.1
NP_001002020.1
NP_079491.2
XP_011537070.1
XP_011537071.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_013039.1 RefSeqGene

    Range
    5001..19662
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001002019.3NP_001002019.1  tRNA pseudouridine synthase A isoform 2

    See identical proteins and their annotated locations for NP_001002019.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus, compared to isoform 1. Variants 2 and 3 encode the same isoform (2).
    Source sequence(s)
    AC131009, AF116238, AI566545, BM923133, BX340929
    Consensus CDS
    CCDS31928.1
    UniProtKB/Swiss-Prot
    Q9Y606
    UniProtKB/TrEMBL
    E5KMT6
    Conserved Domains (2) summary
    cd02568
    Location:60312
    PseudoU_synth_PUS1_PUS2; Pseudouridine synthase, PUS1/ PUS2 like
    COG0101
    Location:56335
    TruA; tRNA U38,U39,U40 pseudouridine synthase TruA [Translation, ribosomal structure and biogenesis]
  2. NM_001002020.3NP_001002020.1  tRNA pseudouridine synthase A isoform 2

    See identical proteins and their annotated locations for NP_001002020.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus, compared to isoform 1. Variants 2 and 3 encode the same isoform (2).
    Source sequence(s)
    AC131009, AI566545, BC002901, CB118952
    Consensus CDS
    CCDS31928.1
    UniProtKB/Swiss-Prot
    Q9Y606
    UniProtKB/TrEMBL
    E5KMT6
    Related
    ENSP00000392451.2, ENST00000443358.6
    Conserved Domains (2) summary
    cd02568
    Location:60312
    PseudoU_synth_PUS1_PUS2; Pseudouridine synthase, PUS1/ PUS2 like
    COG0101
    Location:56335
    TruA; tRNA U38,U39,U40 pseudouridine synthase TruA [Translation, ribosomal structure and biogenesis]
  3. NM_025215.6NP_079491.2  tRNA pseudouridine synthase A isoform 1

    See identical proteins and their annotated locations for NP_079491.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC131009, AI566545, AK074659
    Consensus CDS
    CCDS9275.2
    UniProtKB/Swiss-Prot
    Q9Y606
    UniProtKB/TrEMBL
    E5KMT5
    Related
    ENSP00000365837.3, ENST00000376649.8
    Conserved Domains (2) summary
    cd02568
    Location:88340
    PseudoU_synth_PUS1_PUS2; Pseudouridine synthase, PUS1/ PUS2 like
    COG0101
    Location:84363
    TruA; tRNA U38,U39,U40 pseudouridine synthase TruA [Translation, ribosomal structure and biogenesis]

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    131929268..131945896
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011538769.2XP_011537071.1  tRNA pseudouridine synthase A isoform X2

    Related
    ENSP00000445819.1, ENST00000544213.5
    Conserved Domains (1) summary
    cl00130
    Location:88147
    PseudoU_synth; Pseudouridine synthases catalyze the isomerization of specific uridines in an RNA molecule to pseudouridines (5-ribosyluracil, psi)
  2. XM_011538768.3XP_011537070.1  tRNA pseudouridine synthase A isoform X1

    Conserved Domains (1) summary
    cd02568
    Location:1207
    PseudoU_synth_PUS1_PUS2; Pseudouridine synthase, PUS1/ PUS2 like

RNA

  1. XR_001748872.1 RNA Sequence

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