U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

SHQ1 SHQ1, H/ACA ribonucleoprotein assembly factor [ Homo sapiens (human) ]

Gene ID: 55164, updated on 5-Mar-2024

Summary

Go to the top of the page Help
Official Symbol
SHQ1provided by HGNC
Official Full Name
SHQ1, H/ACA ribonucleoprotein assembly factorprovided by HGNC
Primary source
HGNC:HGNC:25543
See related
Ensembl:ENSG00000144736 MIM:613663; AllianceGenome:HGNC:25543
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
DYT35; NEDDS; Shq1p; GRIM-1
Summary
SHQ1 assists in the assembly of H/ACA-box ribonucleoproteins that function in the processing of ribosomal RNAs, modification of spliceosomal small nuclear RNAs, and stabilization of telomerase (see MIM 602322) (Grozdanov et al., 2009 [PubMed 19383767]).[supplied by OMIM, Dec 2010]
Expression
Ubiquitous expression in testis (RPKM 2.9), thyroid (RPKM 2.1) and 25 other tissues See more
Orthologs
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
Location:
3p13
Exon count:
17
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (72725272..72848445, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (72766887..72890317, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (72798428..72897596, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377161 Neighboring gene uncharacterized LOC105377162 Neighboring gene RNA, 5S ribosomal pseudogene 136 Neighboring gene uncharacterized LOC124909396 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:72788360-72788868 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr3:72815716-72816541 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr3:72816884-72817450 Neighboring gene NANOG hESC enhancer GRCh37_chr3:72818985-72819556 Neighboring gene U2SURP pseudogene 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:72859919-72860421 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20090 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20091 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20092 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20093 Neighboring gene lysosomal protein transmembrane 4 beta pseudogene 2 Neighboring gene PSMD12 pseudogene 1

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

Related articles in PubMed

  1. Compound heterozygous variants in SHQ1 are associated with a spectrum of neurological features, including early-onset dystonia. Sleiman S, et al. Hum Mol Genet, 2022 Feb 21. PMID 34542157
  2. SHQ1 is an ER stress response gene that facilitates chemotherapeutics-induced apoptosis via sensitizing ER-stress response. Liu H, et al. Cell Death Dis, 2020 Jun 10. PMID 32522979, Free PMC Article
  3. SHQ1 regulation of RNA splicing is required for T-lymphoblastic leukemia cell survival. Su H, et al. Nat Commun, 2018 Oct 15. PMID 30323192, Free PMC Article
  4. Inherited SHQ1 mutations impair interaction with NAP57/dyskerin, a major target in dyskeratosis congenita. Bizarro J, et al. Mol Genet Genomic Med, 2017 Nov. PMID 29178645, Free PMC Article
  5. Reversed expression of GRIM-1 and GRP78 in human non-small cell lung cancer. Wu HM, et al. Hum Pathol, 2014 Sep. PMID 25081541

See all (32) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Biallelic SHQ1 variants in early infantile hypotonia and paroxysmal dystonia as the leading manifestation.
    Title: Biallelic SHQ1 variants in early infantile hypotonia and paroxysmal dystonia as the leading manifestation.
  2. Compound heterozygous variants in SHQ1 are associated with a spectrum of neurological features, including early-onset dystonia.
    Title: Compound heterozygous variants in SHQ1 are associated with a spectrum of neurological features, including early-onset dystonia.
  3. SHQ1 is an ER stress response gene that facilitates chemotherapeutics-induced apoptosis via sensitizing ER-stress response.
    Title: SHQ1 is an ER stress response gene that facilitates chemotherapeutics-induced apoptosis via sensitizing ER-stress response.
  4. a mechanism of NOTCH1-SHQ1-MYC axis in T-cell leukemogenesis, is reported.
    Title: SHQ1 regulation of RNA splicing is required for T-lymphoblastic leukemia cell survival.
  5. Results from a study on gene expression variability markers in early-stage human embryos shows that SHQ1 is a putative expression variability marker for the 3-day, 8-cell embryo stage.
    Title: Variability of Gene Expression Identifies Transcriptional Regulators of Early Human Embryonic Development.
  6. The expression of GRIM-1 and GRP78 was negatively correlated in human non-small cell lung cancer (NSCLC) tissues, and the down-regulation of GRP78 by GRIM-1 provides a possible mechanism for their interaction.
    Title: Reversed expression of GRIM-1 and GRP78 in human non-small cell lung cancer.
  7. these results provide insight into the Shq1/dyskerin (Cbf5) interaction that plays a critical role in H/ACA RNP biogenesis and assembly in eukaryotes
    Title: Structure and interactions of the CS domain of human H/ACA RNP assembly protein Shq1.
  8. study suggests that GRIM-1 (SHQ1) might act as a co-tumor suppressor in the prostate
    Title: GRIM-1, a novel growth suppressor, inhibits rRNA maturation by suppressing small nucleolar RNAs.
Submit: New GeneRIF Correction

Phenotypes

Go to the top of the page Help

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
Dystonia 35, childhood-onset
MedGen: C5677003 OMIM: 619921 GeneReviews: Not available
not available
Neurodevelopmental disorder with dystonia and seizures
MedGen: C5677004 OMIM: 619922 GeneReviews: Not available
not available

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

Go to the top of the page

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Clone Names

  • FLJ10539, DKFZp686H07226

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables unfolded protein binding IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in box H/ACA snoRNP assembly IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within negative regulation of rRNA processing IDA
Inferred from Direct Assay
more info
  
acts_upstream_of_or_within positive regulation of apoptotic process IDA
Inferred from Direct Assay
more info
  
involved_in positive regulation of telomerase RNA localization to Cajal body HMP PubMed 
involved_in protein-RNA complex assembly IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
NOT located_in Cajal body IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
  
NOT located_in nucleolus IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in nucleoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleoplasm TAS
Traceable Author Statement
more info
  

General protein information

Go to the top of the page Help
Preferred Names
protein SHQ1 homolog
Names
SHQ1 homolog
gene associated with retinoid and interferon-induced mortality 1

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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_018130.3 → NP_060600.2  protein SHQ1 homolog

    See identical proteins and their annotated locations for NP_060600.2

    Status: VALIDATED

    Source sequence(s)
    AK001401, BC032671
    Consensus CDS
    CCDS33788.1
    UniProtKB/Swiss-Prot
    B4DL05, Q6MZJ4, Q6PI26, Q7Z748, Q9H7E5, Q9NVS8
    Related
    ENSP00000315182.8, ENST00000325599.13
    Conserved Domains (2) summary
    cd06463
    Location:9 → 84
    p23_like; Proteins containing this p23_like domain include p23 and its Saccharomyces cerevisiae (Sc) homolog Sba1. Both are co-chaperones for the heat shock protein (Hsp) 90. p23 binds Hsp90 and participates in the folding of a number of Hsp90 clients, including ...
    pfam04925
    Location:243 → 412
    SHQ1; SHQ1 protein

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    72725272..72848445 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011533898.3 → XP_011532200.1  protein SHQ1 homolog isoform X3

    Conserved Domains (2) summary
    cd06463
    Location:9 → 84
    p23_like; Proteins containing this p23_like domain include p23 and its Saccharomyces cerevisiae (Sc) homolog Sba1. Both are co-chaperones for the heat shock protein (Hsp) 90. p23 binds Hsp90 and participates in the folding of a number of Hsp90 clients, including ...
    pfam04925
    Location:243 → 394
    SHQ1; SHQ1 protein

  2. XM_011533896.3 → XP_011532198.1  protein SHQ1 homolog isoform X2

    Conserved Domains (2) summary
    cd06463
    Location:9 → 84
    p23_like; Proteins containing this p23_like domain include p23 and its Saccharomyces cerevisiae (Sc) homolog Sba1. Both are co-chaperones for the heat shock protein (Hsp) 90. p23 binds Hsp90 and participates in the folding of a number of Hsp90 clients, including ...
    pfam04925
    Location:243 → 395
    SHQ1; SHQ1 protein

  3. XM_011533897.3 → XP_011532199.1  protein SHQ1 homolog isoform X4

    Conserved Domains (2) summary
    cd06463
    Location:9 → 84
    p23_like; Proteins containing this p23_like domain include p23 and its Saccharomyces cerevisiae (Sc) homolog Sba1. Both are co-chaperones for the heat shock protein (Hsp) 90. p23 binds Hsp90 and participates in the folding of a number of Hsp90 clients, including ...
    pfam04925
    Location:243 → 394
    SHQ1; SHQ1 protein

  4. XM_011533895.3 → XP_011532197.1  protein SHQ1 homolog isoform X1

    Conserved Domains (2) summary
    cd06463
    Location:9 → 84
    p23_like; Proteins containing this p23_like domain include p23 and its Saccharomyces cerevisiae (Sc) homolog Sba1. Both are co-chaperones for the heat shock protein (Hsp) 90. p23 binds Hsp90 and participates in the folding of a number of Hsp90 clients, including ...
    pfam04925
    Location:243 → 394
    SHQ1; SHQ1 protein

  5. XM_011533899.2 → XP_011532201.1  protein SHQ1 homolog isoform X5

    Conserved Domains (2) summary
    cd06463
    Location:9 → 84
    p23_like; Proteins containing this p23_like domain include p23 and its Saccharomyces cerevisiae (Sc) homolog Sba1. Both are co-chaperones for the heat shock protein (Hsp) 90. p23 binds Hsp90 and participates in the folding of a number of Hsp90 clients, including ...
    pfam04925
    Location:243 → 313
    SHQ1; SHQ1 protein

RNA

  1. XR_001740192.3 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    72766887..72890317 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054347065.1 → XP_054203040.1  protein SHQ1 homolog isoform X3

  2. XM_054347064.1 → XP_054203039.1  protein SHQ1 homolog isoform X2

  3. XM_054347066.1 → XP_054203041.1  protein SHQ1 homolog isoform X4

  4. XM_054347063.1 → XP_054203038.1  protein SHQ1 homolog isoform X1

  5. XM_054347067.1 → XP_054203042.1  protein SHQ1 homolog isoform X5

RNA

  1. XR_008486739.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6PI26.2 GenPept UniProtKB/Swiss-Prot:Q6PI26

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous