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PUS7 pseudouridine synthase 7 [ Homo sapiens (human) ]

Gene ID: 54517, updated on 27-Jun-2020

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
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
Expression
Ubiquitous expression in thyroid (RPKM 5.5), skin (RPKM 3.6) and 25 other tissues See more
Orthologs

Genomic context

See PUS7 in Genome Data Viewer
Location:
7q22.3
Exon count:
17
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (105456501..105522271, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (105096948..105162689, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene SRSF protein kinase 2 Neighboring gene RNA, U6 small nuclear 1322, pseudogene Neighboring gene small integral membrane protein 12-like Neighboring gene ring finger protein 181 pseudogene Neighboring gene RAD50 interactor 1 Neighboring gene EF-hand calcium binding domain 10

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

Phenotypes

Associated conditions

Description Tests
INTELLECTUAL DEVELOPMENTAL DISORDER WITH ABNORMAL BEHAVIOR, MICROCEPHALY, AND SHORT STATURE
MedGen: C5193039 OMIM: 618342 GeneReviews: Not available
not available

NHGRI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ20485, KIAA1897, MGC17720

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA binding HDA PubMed 
enzyme binding IPI
Inferred from Physical Interaction
more info
PubMed 
pseudouridine synthase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
pseudouridine synthase activity IDA
Inferred from Direct Assay
more info
PubMed 
pseudouridine synthase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
Process Evidence Code Pubs
mRNA pseudouridine synthesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of translation IDA
Inferred from Direct Assay
more info
PubMed 
pseudouridine synthesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of hematopoietic stem cell differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of mesoderm development IMP
Inferred from Mutant Phenotype
more info
PubMed 
tRNA pseudouridine synthesis IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
pseudouridylate synthase 7 homolog
Names
pseudouridylate synthase 7 (putative)
NP_001305092.1
NP_001305093.1
NP_061915.2
XP_005250519.1
XP_011514638.1
XP_016867856.1
XP_016867857.1

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.

mRNA and Protein(s)

  1. NM_001318163.1NP_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/Swiss-Prot
    Q96PZ0
    UniProtKB/TrEMBL
    B3KY42
    Conserved Domains (2) summary
    cd02576
    Location:125649
    PseudoU_synth_ScPUS7; Pseudouridine synthase, TruD family
    pfam01424
    Location:174234
    R3H; R3H domain
  2. NM_001318164.2NP_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
    Q96PZ0
    UniProtKB/TrEMBL
    B3KRB2, B3KY42
    Related
    ENSP00000348722.2, ENST00000356362.6
    Conserved Domains (1) summary
    cd02576
    Location:125643
    PseudoU_synth_ScPUS7; Pseudouridine synthase, TruD family
  3. NM_019042.5NP_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
    Q96PZ0
    UniProtKB/TrEMBL
    B3KRB2, B3KY42
    Related
    ENSP00000417402.1, ENST00000469408.6
    Conserved Domains (1) summary
    cd02576
    Location:125643
    PseudoU_synth_ScPUS7; Pseudouridine synthase, TruD family

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_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    105456501..105522271 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017012367.2XP_016867856.1  pseudouridylate synthase 7 homolog isoform X1

    Conserved Domains (2) summary
    cd02576
    Location:125649
    PseudoU_synth_ScPUS7; Pseudouridine synthase, TruD family
    pfam01424
    Location:174234
    R3H; R3H domain
  2. XM_005250462.4XP_005250519.1  pseudouridylate synthase 7 homolog isoform X1

    See identical proteins and their annotated locations for XP_005250519.1

    Conserved Domains (2) summary
    cd02576
    Location:125649
    PseudoU_synth_ScPUS7; Pseudouridine synthase, TruD family
    pfam01424
    Location:174234
    R3H; R3H domain
  3. XM_017012368.2XP_016867857.1  pseudouridylate synthase 7 homolog isoform X3

  4. XM_011516336.3XP_011514638.1  pseudouridylate synthase 7 homolog isoform X2

    Conserved Domains (2) summary
    cd02576
    Location:125615
    PseudoU_synth_ScPUS7; Pseudouridine synthase, TruD family
    pfam01424
    Location:174234
    R3H; R3H domain

RNA

  1. XR_927481.3 RNA Sequence

  2. XR_001744818.2 RNA Sequence

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