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] See more...

Aliases for SHQ1 Gene

Aliases for SHQ1 Gene

  • SHQ1, H/ACA Ribonucleoprotein Assembly Factor 2 3 5
  • Protein SHQ1 Homolog 3 4
  • Gene Associated With Retinoid And Interferon-Induced Mortality 1 3
  • SHQ1 Homolog (S. Cerevisiae) 2
  • SHQ1 Homolog 3
  • GRIM-1 3
  • Shq1p 3

External Ids for SHQ1 Gene

Previous GeneCards Identifiers for SHQ1 Gene

  • GC03M072883

Summaries for SHQ1 Gene

Entrez Gene Summary for SHQ1 Gene

  • 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]

GeneCards Summary for SHQ1 Gene

SHQ1 (SHQ1, H/ACA Ribonucleoprotein Assembly Factor) is a Protein Coding gene. Diseases associated with SHQ1 include Dyskeratosis Congenita and Dyskeratosis Congenita, X-Linked.

UniProtKB/Swiss-Prot Summary for SHQ1 Gene

  • Required for the quantitative accumulation of H/ACA ribonucleoproteins (RNPs), including telomerase, probably through the stabilization of DKC1, from the time of its synthesis until its association with NOP10, NHP2, and NAF1 at the nascent H/ACA RNA.

Additional gene information for SHQ1 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SHQ1 Gene

Genomics for SHQ1 Gene

GeneHancer (GH) Regulatory Elements for SHQ1 Gene

Promoters and enhancers for SHQ1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03J072847 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 505.4 +13.7 13667 2.9 ZBTB40 ZNF217 SIN3A NRF1 POLR2G SP1 PHF8 POLR2A ZBTB11 GABPA SHQ1 GXYLT2 lnc-GXYLT2-3 lnc-RYBP-9 lnc-GXYLT2-1
GH03J072862 Enhancer 0.2 Ensembl 500.7 -1.0 -987 0.2 SHQ1 piR-61945-358 GXYLT2 lnc-GXYLT2-3 lnc-GXYLT2-1
GH03J072886 Promoter/Enhancer 2.2 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 12 -28.0 -27996 6.9 EP300 CTCF ZSCAN5C POLR2G JUND FOS ZNF10 TCF7 ZBTB26 EZH2 SHQ1 GXYLT2 RYBP EBLN2 LAPTM4BP2 lnc-GXYLT2-2 piR-52079-143 lnc-GXYLT2-3 lnc-GXYLT2-1
GH03J072954 Enhancer 0.9 Ensembl dbSUPER 29.9 -93.2 -93187 0.6 ZNF510 ZNF266 ZNF316 MAFK ZNF426 ZNF213 ZNF189 ZNF654 ZNF664 ZNF34 SHQ1 GXYLT2 EBLN2 HSALNG0026839 piR-36323-002 lnc-GXYLT2-1
GH03J072638 Enhancer 0.7 Ensembl 29.8 +222.2 222213 1.4 ZNF623 ZNF510 ZNF266 ZBTB11 ZNF426 ZNF213 ZNF654 ZFP64 ZNF34 ZC3H11A SHQ1 EBLN2 RYBP LOC105377161 LOC102724817 lnc-GXYLT2-1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SHQ1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SHQ1

Top Transcription factor binding sites by QIAGEN in the SHQ1 gene promoter:
  • CREB
  • deltaCREB
  • GCNF
  • GCNF-1
  • GCNF-2
  • Nkx2-2
  • Nkx3-1
  • Nkx3-1 v1
  • Nkx3-1 v2
  • Nkx3-1 v3

Genomic Locations for SHQ1 Gene

Genomic Locations for SHQ1 Gene
chr3:72,749,277-72,861,914
(GRCh38/hg38)
Size:
112,638 bases
Orientation:
Minus strand
chr3:72,798,428-72,911,065
(GRCh37/hg19)
Size:
112,638 bases
Orientation:
Minus strand

Genomic View for SHQ1 Gene

Genes around SHQ1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SHQ1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SHQ1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SHQ1 Gene

Proteins for SHQ1 Gene

  • Protein details for SHQ1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6PI26-SHQ1_HUMAN
    Recommended name:
    Protein SHQ1 homolog
    Protein Accession:
    Q6PI26
    Secondary Accessions:
    • B4DL05
    • Q6MZJ4
    • Q7Z748
    • Q9H7E5
    • Q9NVS8

    Protein attributes for SHQ1 Gene

    Size:
    577 amino acids
    Molecular mass:
    65125 Da
    Quaternary structure:
    • Directly interacts with DKC1 alone, but not in the context of the core trimer composed of DKC1, NOP10 and NHP2, nor in the presence of NAF1. Does not interact with NAF1.
    SequenceCaution:
    • Sequence=BAA91669.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=BAB14947.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for SHQ1 Gene

    Alternative splice isoforms for SHQ1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SHQ1 Gene

Post-translational modifications for SHQ1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for SHQ1 Gene

Domains & Families for SHQ1 Gene

Gene Families for SHQ1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for SHQ1 Gene

Suggested Antigen Peptide Sequences for SHQ1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ59713, highly similar to Homo sapiens SHQ1 homolog (SHQ1), mRNA (B4DL05_HUMAN)
  • Protein SHQ1 homolog (SHQ1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q6PI26

UniProtKB/Swiss-Prot:

SHQ1_HUMAN :
  • Belongs to the SHQ1 family.
Family:
  • Belongs to the SHQ1 family.
genes like me logo Genes that share domains with SHQ1: view

Function for SHQ1 Gene

Molecular function for SHQ1 Gene

UniProtKB/Swiss-Prot Function:
Required for the quantitative accumulation of H/ACA ribonucleoproteins (RNPs), including telomerase, probably through the stabilization of DKC1, from the time of its synthesis until its association with NOP10, NHP2, and NAF1 at the nascent H/ACA RNA.

Phenotypes From GWAS Catalog for SHQ1 Gene

Gene Ontology (GO) - Molecular Function for SHQ1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 19383767
GO:0051082 unfolded protein binding IBA 21873635
genes like me logo Genes that share ontologies with SHQ1: view
genes like me logo Genes that share phenotypes with SHQ1: view

Animal Model Products

CRISPR Products

miRNA for SHQ1 Gene

miRTarBase miRNAs that target SHQ1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SHQ1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SHQ1 Gene

Localization for SHQ1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SHQ1 Gene

Cytoplasm, cytosol. Nucleus, nucleoplasm. Note=May at least partially shuttle between cytosol and nucleoplasm. In the nucleoplasm, exhibits a granular pattern, but is excluded from nucleoli and Cajal bodies. Absent from most H/ACA-box RNA transcription sites.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SHQ1 gene
Compartment Confidence
nucleus 5
cytosol 5
plasma membrane 1
extracellular 1
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for SHQ1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA,IBA 19383767
GO:0005730 NOT nucleolus IDA 19383767
GO:0005737 cytoplasm IDA,IBA 19383767
GO:0005829 cytosol IEA,IDA --
genes like me logo Genes that share ontologies with SHQ1: view

Pathways & Interactions for SHQ1 Gene

PathCards logo

SuperPathways for SHQ1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SHQ1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000493 box H/ACA snoRNP assembly IBA 21873635
GO:0022618 ribonucleoprotein complex assembly IDA 19383767
GO:0043065 positive regulation of apoptotic process IDA 20663920
GO:1904874 positive regulation of telomerase RNA localization to Cajal body HMP 25467444
GO:2000233 negative regulation of rRNA processing IDA 20663920
genes like me logo Genes that share ontologies with SHQ1: view

No data available for Pathways by source and SIGNOR curated interactions for SHQ1 Gene

Drugs & Compounds for SHQ1 Gene

No Compound Related Data Available

Transcripts for SHQ1 Gene

mRNA/cDNA for SHQ1 Gene

1 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SHQ1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SHQ1 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12
SP1: - -
SP2: -
SP3: - -
SP4:

Relevant External Links for SHQ1 Gene

GeneLoc Exon Structure for
SHQ1

Expression for SHQ1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SHQ1 Gene

Protein differential expression in normal tissues from HIPED for SHQ1 Gene

This gene is overexpressed in Retina (47.8) and Monocytes (13.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SHQ1 Gene



Protein tissue co-expression partners for SHQ1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SHQ1

SOURCE GeneReport for Unigene cluster for SHQ1 Gene:

Hs.606584

Evidence on tissue expression from TISSUES for SHQ1 Gene

  • Intestine(4.2)
  • Skin(4.1)
genes like me logo Genes that share expression patterns with SHQ1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SHQ1 Gene

Orthologs for SHQ1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SHQ1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SHQ1 31 30
  • 99.48 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SHQ1 31 30
  • 85.62 (n)
OneToOne
cow
(Bos Taurus)
Mammalia SHQ1 31 30
  • 83.88 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Shq1 30
  • 79.41 (n)
mouse
(Mus musculus)
Mammalia Shq1 17 31 30
  • 79.11 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SHQ1 31
  • 71 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SHQ1 31
  • 63 (a)
OneToOne
chicken
(Gallus gallus)
Aves SHQ1 31 30
  • 67.67 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SHQ1 31
  • 54 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia shq1 30
  • 60.52 (n)
zebrafish
(Danio rerio)
Actinopterygii shq1 31 30
  • 62.18 (n)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1634 30
fruit fly
(Drosophila melanogaster)
Insecta CG10055 31
  • 21 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea CELE_Y48A5A.1 30
  • 47.08 (n)
Y48A5A.1 31
  • 34 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SHQ1 33 31 30
  • 46.02 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F03949g 30
  • 45.94 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADL230C 30
  • 45.61 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes shq1 30
  • 47.83 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 44 (a)
OneToOne
Species where no ortholog for SHQ1 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SHQ1 Gene

ENSEMBL:
Gene Tree for SHQ1 (if available)
TreeFam:
Gene Tree for SHQ1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SHQ1: view image

Paralogs for SHQ1 Gene

Pseudogenes.org Pseudogenes for SHQ1 Gene

genes like me logo Genes that share paralogs with SHQ1: view

No data available for Paralogs for SHQ1 Gene

Variants for SHQ1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SHQ1 Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
710656 Likely Benign: not provided 72,848,308(-) A/C MISSENSE_VARIANT
715596 Benign: not provided 72,812,680(-) A/G SYNONYMOUS_VARIANT
775886 Benign: not provided 72,848,316(-) T/C MISSENSE_VARIANT
783397 Benign: not provided 72,842,349(-) G/A SYNONYMOUS_VARIANT
787019 Benign: not provided 72,750,397(-) C/T MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for SHQ1 Gene

Structural Variations from Database of Genomic Variants (DGV) for SHQ1 Gene

Variant ID Type Subtype PubMed ID
esv2659217 CNV deletion 23128226
esv2763278 CNV gain 21179565
esv3596547 CNV loss 21293372
nsv3873 CNV deletion 18451855
nsv3874 CNV insertion 18451855
nsv523229 CNV loss 19592680

Variation tolerance for SHQ1 Gene

Residual Variation Intolerance Score: 77.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.36; 63.32% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SHQ1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SHQ1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SHQ1 Gene

Disorders for SHQ1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for SHQ1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
dyskeratosis congenita
  • zinsser-cole-engman syndrome
dyskeratosis congenita, x-linked
  • hhs
- elite association - COSMIC cancer census association via MalaCards
Search SHQ1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for SHQ1

genes like me logo Genes that share disorders with SHQ1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SHQ1 Gene

Publications for SHQ1 Gene

  1. SHQ1 is required prior to NAF1 for assembly of H/ACA small nucleolar and telomerase RNPs. (PMID: 19383767) Grozdanov PN … Meier UT (RNA (New York, N.Y.) 2009) 2 3 4 54
  2. Structure and interactions of the CS domain of human H/ACA RNP assembly protein Shq1. (PMID: 25553844) Singh M … Feigon J (Journal of molecular biology 2015) 2 3 54
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  4. SHQ1 regulation of RNA splicing is required for T-lymphoblastic leukemia cell survival. (PMID: 30323192) Su H … Liu H (Nature communications 2018) 3 54
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 54

Products for SHQ1 Gene

Sources for SHQ1 Gene