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PUSL1 pseudouridine synthase like 1 [ Homo sapiens (human) ]

Gene ID: 126789, updated on 27-Nov-2024

Summary

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Official Symbol
PUSL1provided by HGNC
Official Full Name
pseudouridine synthase like 1provided by HGNC
Primary source
HGNC:HGNC:26914
See related
Ensembl:ENSG00000169972 AllianceGenome:HGNC:26914
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
Predicted to enable pseudouridine synthase activity. Predicted to be involved in tRNA pseudouridine synthesis. Located in mitochondrion. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in skin (RPKM 3.5), testis (RPKM 3.1) and 25 other tissues See more
Orthologs
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Genomic context

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See PUSL1 in Genome Data Viewer
Location:
1p36.33
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (1308597..1311677)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (740148..743228)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (1243977..1247057)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:1232563-1233499 Neighboring gene microRNA 6726 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:1237151-1237752 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:1237753-1238352 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:1238353-1238953 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:1238954-1239553 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:1239554-1240154 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 52 Neighboring gene small nucleolar RNA, C/D box 167 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 53 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 54 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 55 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 56 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 57 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 58 Neighboring gene integrator complex subunit 11 Neighboring gene microRNA 6727 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:1253662-1254352 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:1254353-1255043 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:1257229-1257737 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:1258501-1259010 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 59 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 60 Neighboring gene ceramide-1-phosphate transfer protein

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. The Pseudouridine Synthase RPUSD4 Is an Essential Component of Mitochondrial RNA Granules. Zaganelli S, et al. J Biol Chem, 2017 Mar 17. PMID 28082677, Free PMC Article
  2. Nsp2 has the potential to be a drug target revealed by global identification of SARS-CoV-2 Nsp2-interacting proteins. Zheng YX, et al. Acta Biochim Biophys Sin (Shanghai), 2021 Aug 31. PMID 34159380
  3. A functional peptidyl-tRNA hydrolase, ICT1, has been recruited into the human mitochondrial ribosome. Richter R, et al. EMBO J, 2010 Mar 17. PMID 20186120, Free PMC Article
  4. POH1 contributes to hyperactivation of TGF-β signaling and facilitates hepatocellular carcinoma metastasis through deubiquitinating TGF-β receptors and caveolin-1. Wang B, et al. EBioMedicine, 2019 Mar. PMID 30745168, Free PMC Article
  5. A SARS-CoV-2 protein interaction map reveals targets for drug repurposing. Gordon DE, et al. Nature, 2020 Jul. PMID 32353859, Free PMC Article

See all (29) citations in PubMed

GeneRIFs: Gene References Into Functions

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ90811

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables RNA binding IEA
Inferred from Electronic Annotation
more info
  
enables pseudouridine synthase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables tRNA pseudouridine synthase activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in tRNA pseudouridine synthesis IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
  
located_in mitochondrion HTP PubMed 
located_in mitochondrion IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
tRNA pseudouridine synthase-like 1
Names
pseudouridylate synthase like 1
tRNA pseudouridylate synthase-like 1
tRNA-uridine isomerase-like 1
NP_001333045.1
NP_699170.1
XP_005244777.1
XP_024308825.1
XP_047300672.1
XP_047300678.1
XP_054190227.1
XP_054190228.1
XP_054190229.1
XP_054190230.1

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

  1. NM_001346116.2 → NP_001333045.1  tRNA pseudouridine synthase-like 1 isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).
    Source sequence(s)
    AL139287

  2. NM_153339.3 → NP_699170.1  tRNA pseudouridine synthase-like 1 isoform 2

    See identical proteins and their annotated locations for NP_699170.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice junction compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    BC034304, HY160725
    Consensus CDS
    CCDS20.1
    UniProtKB/Swiss-Prot
    B4DP76, Q5TA41, Q8N0Z8
    Related
    ENSP00000368318.5, ENST00000379031.10
    Conserved Domains (2) summary
    cd02570
    Location:18 → 284
    PseudoU_synth_EcTruA; Eukaryotic and bacterial pseudouridine synthases similar to E. coli TruA
    PRK00021
    Location:13 → 284
    truA; tRNA pseudouridine synthase A; Validated

RNA

  1. NR_144369.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks an alternate exon and uses an alternate splice junction compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AK298218, BC034304, HY160725

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    1308597..1311677
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024453057.2 → XP_024308825.1  tRNA pseudouridine synthase-like 1 isoform X1

    Conserved Domains (1) summary
    cl00130
    Location:18 → 158
    PseudoU_synth; Pseudouridine synthases catalyze the isomerization of specific uridines in an RNA molecule to pseudouridines (5-ribosyluracil, psi)

  2. XM_047444722.1 → XP_047300678.1  tRNA pseudouridine synthase-like 1 isoform X3

    Related
    ENST00000470520.5

  3. XM_047444716.1 → XP_047300672.1  tRNA pseudouridine synthase-like 1 isoform X2

  4. XM_005244720.5 → XP_005244777.1  tRNA pseudouridine synthase-like 1 isoform X4

    Conserved Domains (1) summary
    cl00130
    Location:18 → 158
    PseudoU_synth; Pseudouridine synthases catalyze the isomerization of specific uridines in an RNA molecule to pseudouridines (5-ribosyluracil, psi)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    740148..743228
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054334252.1 → XP_054190227.1  tRNA pseudouridine synthase-like 1 isoform X1

  2. XM_054334254.1 → XP_054190229.1  tRNA pseudouridine synthase-like 1 isoform X3

  3. XM_054334253.1 → XP_054190228.1  tRNA pseudouridine synthase-like 1 isoform X2

  4. XM_054334255.1 → XP_054190230.1  tRNA pseudouridine synthase-like 1 isoform X4

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8N0Z8.1 GenPept UniProtKB/Swiss-Prot:Q8N0Z8

Gene LinkOut

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