PUS7 pseudouridine synthase 7 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PUS7provided by HGNC
Official Full Name: pseudouridine synthase 7provided by HGNC
Primary source: HGNC:HGNC:26033
See related: Ensembl:ENSG00000091127 MIM:616261; AllianceGenome:HGNC:26033
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
Also known as: IDDABS
Summary: Enables enzyme binding activity and tRNA pseudouridine(13) synthase activity. Involved in several processes, including pseudouridine synthesis; regulation of hematopoietic stem cell differentiation; and regulation of mesoderm development. Is active in nucleus. Implicated in intellectual developmental disorder with abnormal behavior, microcephaly, and short stature. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in thyroid (RPKM 5.5), skin (RPKM 3.6) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 7q22.3

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (105456501..105522271, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (106770730..106836467, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (105096948..105162718, complement)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Comprehensive analysis to identify PUS7 as a prognostic biomarker from pan-cancer analysis to osteosarcoma validation.
Title: Comprehensive analysis to identify PUS7 as a prognostic biomarker from pan-cancer analysis to osteosarcoma validation.
PUS7-dependent pseudouridylation of ALKBH3 mRNA inhibits gastric cancer progression.
Title: PUS7-dependent pseudouridylation of ALKBH3 mRNA inhibits gastric cancer progression.
PUS7 promotes the proliferation of colorectal cancer cells by directly stabilizing SIRT1 to activate the Wnt/beta-catenin pathway.
Title: PUS7 promotes the proliferation of colorectal cancer cells by directly stabilizing SIRT1 to activate the Wnt/β-catenin pathway.
PUS7 deficiency in human patients causes profound neurodevelopmental phenotype by dysregulating protein translation.
Title: PUS7 deficiency in human patients causes profound neurodevelopmental phenotype by dysregulating protein translation.
Pseudouridylate Synthase 7 Promotes Cell Proliferation and Invasion in Colon Cancer Through Activating PI3K/AKT/mTOR Signaling Pathway.
Title: Pseudouridylate Synthase 7 Promotes Cell Proliferation and Invasion in Colon Cancer Through Activating PI3K/AKT/mTOR Signaling Pathway.
Pseudouridine synthases modify human pre-mRNA co-transcriptionally and affect pre-mRNA processing.
Title: Pseudouridine synthases modify human pre-mRNA co-transcriptionally and affect pre-mRNA processing.
The human pseudouridine synthase PUS7 recognizes RNA with an extended multi-domain binding surface.
Title: The human pseudouridine synthase PUS7 recognizes RNA with an extended multi-domain binding surface.
HSP90-dependent PUS7 overexpression facilitates the metastasis of colorectal cancer cells by regulating LASP1 abundance.
Title: HSP90-dependent PUS7 overexpression facilitates the metastasis of colorectal cancer cells by regulating LASP1 abundance.
Pseudouridine synthase 7 is a nuclear protein involved in stem cell development and intellectual disabilities, and is a novel interactor of SIRT1. The binding regions are predicted and analyzed based on molecular docking studies. The direct interaction occurs between SIRT1 and PUS7, as evidenced by pull-down studies and surface plasmon resonance (SPR) assay.
Title: Biochemical insight into pseudouridine synthase 7 (PUS7) as a novel interactor of sirtuin, SIRT1.
Our results confirm that PUS7 is a bona fide Mendelian disease gene and expand the list of human diseases caused by impaired pseudouridylation.
Title: PUS7 mutations impair pseudouridylation in humans and cause intellectual disability and microcephaly.

Submit: New GeneRIF Correction See all GeneRIFs (11)

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

Associated conditions

Description	Tests
Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature MedGen: C5193039 OMIM: 618342 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
Biological insights from 108 schizophrenia-associated genetic loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of bipolar disorder accounting for effect of body mass index identifies a new risk allele in TCF7L2. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

RH36289 (e-PCR)
- UniSTS:47116

SGC32747 (e-PCR)
- UniSTS:45586

WI-11197 (e-PCR)
- UniSTS:46416

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	PubMed
enables enzyme binding	IPI Inferred from Physical Interaction more info	PubMed
enables pseudouridine synthase activity	IBA Inferred from Biological aspect of Ancestor more info
enables pseudouridine synthase activity	IDA Inferred from Direct Assay more info	PubMed
enables pseudouridine synthase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables tRNA pseudouridine(13) synthase activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in RNA splicing	IEA Inferred from Electronic Annotation more info
involved_in mRNA processing	IEA Inferred from Electronic Annotation more info
involved_in mRNA pseudouridine synthesis	IDA Inferred from Direct Assay more info	PubMed
involved_in mRNA pseudouridine synthesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of translation	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of translation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in pseudouridine synthesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of hematopoietic stem cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of mesoderm development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in tRNA pseudouridine synthesis	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
is_active_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: pseudouridylate synthase 7 homolog

Names: pseudouridylate synthase 7 (putative)

NP_001305092.1

EC 4.2.1.70

NP_001305093.1

EC 4.2.1.70

NP_061915.2

EC 4.2.1.70

XP_005250519.1

EC 4.2.1.70

XP_011514638.1

EC 4.2.1.70

XP_016867856.1

EC 4.2.1.70

XP_047276488.1

EC 4.2.1.70

XP_047276489.1

EC 4.2.1.70

XP_047276490.1

EC 4.2.1.70

XP_054214480.1

EC 4.2.1.70

XP_054214481.1

EC 4.2.1.70

XP_054214482.1

EC 4.2.1.70

XP_054214483.1

EC 4.2.1.70

XP_054214484.1

EC 4.2.1.70

XP_054214485.1

EC 4.2.1.70

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)

NM_001318163.1 → NP_001305092.1 pseudouridylate synthase 7 homolog isoform a

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the longer isoform (a).

Source sequence(s)

AB067484, AK128629, CA424761

UniProtKB/TrEMBL

B3KY42

Conserved Domains (1) summary

cd02576
Location:125 → 649

PseudoU_synth_ScPUS7; Pseudouridine synthase, TruD family
NM_001318164.2 → NP_001305093.1 pseudouridylate synthase 7 homolog isoform b

Status: VALIDATED

Description

Transcript Variant: This variant (3) differs in the 5' UTR and lacks an in-frame exon in the 5' coding region, compared to variant 1. The encoded isoform (b) is shorter than isoform a. Both variants 2 and 3 encode the same isoform.

Source sequence(s)

AC074013, AK091283, AK128629, CA424761, CN481800

Consensus CDS

CCDS34725.1

UniProtKB/Swiss-Prot

Q75MG4, Q96PZ0, Q9NX19

UniProtKB/TrEMBL

B3KY42

Related

ENSP00000348722.2, ENST00000356362.6

Conserved Domains (1) summary

cd02576
Location:125 → 643

PseudoU_synth_ScPUS7; Pseudouridine synthase, TruD family
NM_019042.5 → NP_061915.2 pseudouridylate synthase 7 homolog isoform b

See identical proteins and their annotated locations for NP_061915.2

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR and lacks an in-frame exon in the 5' coding region, compared to variant 1. The encoded isoform (b) is shorter than isoform a. Both variants 2 and 3 encode the same isoform.

Source sequence(s)

AC074013, AK091283, AK128629, BC011396, CA424761, CN481800

Consensus CDS

CCDS34725.1

UniProtKB/Swiss-Prot

Q75MG4, Q96PZ0, Q9NX19

UniProtKB/TrEMBL

B3KY42

Related

ENSP00000417402.1, ENST00000469408.6

Conserved Domains (1) summary

cd02576
Location:125 → 643

PseudoU_synth_ScPUS7; Pseudouridine synthase, TruD family

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

NC_000007.14 Reference GRCh38.p14 Primary Assembly

Range

105456501..105522271 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047420533.1 → XP_047276489.1 pseudouridylate synthase 7 homolog isoform X3
XM_017012367.3 → XP_016867856.1 pseudouridylate synthase 7 homolog isoform X1

UniProtKB/TrEMBL

B3KY42

Conserved Domains (1) summary

cd02576
Location:125 → 649

PseudoU_synth_ScPUS7; Pseudouridine synthase, TruD family
XM_047420532.1 → XP_047276488.1 pseudouridylate synthase 7 homolog isoform X3
XM_011516336.4 → XP_011514638.1 pseudouridylate synthase 7 homolog isoform X2

UniProtKB/TrEMBL

B3KY42

Conserved Domains (2) summary

cd02576
Location:125 → 615

PseudoU_synth_ScPUS7; Pseudouridine synthase, TruD family

pfam01424
Location:174 → 234

R3H; R3H domain
XM_005250462.5 → XP_005250519.1 pseudouridylate synthase 7 homolog isoform X1

See identical proteins and their annotated locations for XP_005250519.1

UniProtKB/TrEMBL

B3KY42

Conserved Domains (1) summary

cd02576
Location:125 → 649

PseudoU_synth_ScPUS7; Pseudouridine synthase, TruD family
XM_047420534.1 → XP_047276490.1 pseudouridylate synthase 7 homolog isoform X4

Related

ENSP00000418794.1, ENST00000481939.5