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

Summary

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
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Genomic context

Location:: 3p13

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (72725272..72848445, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (72766887..72890317, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (72798428..72897596, complement)

Chromosome 3 - NC_000003.12 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
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?

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.
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.
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.
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.
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.
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.
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.
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.

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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
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

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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

PMC156606P1 (e-PCR)
- UniSTS:271408

D8S2279 (e-PCR)
- UniSTS:473907

SHGC-110789 (e-PCR)
- UniSTS:168016

D3S3369 (e-PCR)
- UniSTS:28252

SHGC-154639 (e-PCR)
- UniSTS:178152

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
involved_in protein-RNA complex assembly	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within telomerase RNA localization to Cajal body	HMP 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

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Preferred Names: protein SHQ1 homolog

Names: SHQ1 homolog; gene associated with retinoid and interferon-induced mortality 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)

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_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000003.12 Reference GRCh38.p14 Primary Assembly

Range

72725272..72848445 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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
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
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