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Aliases for SHQ1 Gene

Aliases for SHQ1 Gene

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

UniProtKB/Swiss-Prot 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 , fRNAdb sequence ontologies 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
GH03I072847 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 555.4 +13.4 13425 2.4 HDGF PKNOX1 SMAD1 ARID4B SIN3A DMAP1 YBX1 ZNF2 IRF4 E2F8 SHQ1 GXYLT2 ENSG00000241537
GH03I072886 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 12 -28.0 -27996 6.9 ARNT ZFP64 FEZF1 ZNF2 ZNF766 GLIS2 ZNF213 ZNF143 FOS SREBF1 GXYLT2 SHQ1 RYBP EBLN2 LAPTM4BP2 ENSG00000276890
GH03I072445 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 12.8 +414.7 414708 4.4 PKNOX1 FOXA2 ARNT ARID4B SIN3A FEZF1 ZNF2 ZNF766 ZNF207 ZNF143 RYBP SHQ1 LOC105377160
GH03I072738 Enhancer 1.1 Ensembl ENCODE 16.2 +122.4 122415 2.6 HDAC1 PKNOX1 ZNF335 TCF12 SCRT2 ZNF548 FOS CREM USF2 ZNF592 GC03P072740 SHQ1 EBLN2 RYBP RNA5SP136
GH03I072273 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 12.4 +587.4 587401 2.7 HDAC1 FOXA2 RAD21 ZBTB40 YY1 SCRT2 ZNF548 ETV6 IKZF2 RUNX3 SHQ1 RYBP EBLN2 LINC00877 LOC105377158 ENSG00000242618
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SHQ1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SHQ1 gene promoter:

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)

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; Positions=79; Evidence={ECO:0000305}; Sequence=BAB14947.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; 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

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 --
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

miRNA for SHQ1 Gene

miRTarBase miRNAs that target 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

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,IEA 19383767
GO:0005730 NOT nucleolus IDA 19383767
GO:0005737 cytoplasm IEA,IDA 19383767
GO:0005829 cytosol IDA,IEA --
genes like me logo Genes that share ontologies with SHQ1: view

Pathways & Interactions 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 --
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 IMP 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

Unigene Clusters for SHQ1 Gene

SHQ1, H/ACA ribonucleoprotein assembly factor:
Representative Sequences:

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
ECgene alternative splicing isoforms for
SHQ1

Expression for SHQ1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for SHQ1 Gene



Protein tissue co-expression partners for SHQ1 Gene

NURSA nuclear receptor signaling pathways regulating expression of SHQ1 Gene:

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 33 34
  • 99.48 (n)
dog
(Canis familiaris)
Mammalia SHQ1 33 34
  • 85.62 (n)
cow
(Bos Taurus)
Mammalia SHQ1 33 34
  • 83.88 (n)
rat
(Rattus norvegicus)
Mammalia Shq1 33
  • 79.41 (n)
mouse
(Mus musculus)
Mammalia Shq1 33 16 34
  • 79.11 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SHQ1 34
  • 71 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SHQ1 34
  • 63 (a)
OneToOne
chicken
(Gallus gallus)
Aves SHQ1 33 34
  • 67.67 (n)
lizard
(Anolis carolinensis)
Reptilia SHQ1 34
  • 54 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia shq1 33
  • 60.52 (n)
zebrafish
(Danio rerio)
Actinopterygii shq1 33 34
  • 62.18 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1634 33
fruit fly
(Drosophila melanogaster)
Insecta CG10055 34
  • 21 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea CELE_Y48A5A.1 33
  • 47.08 (n)
Y48A5A.1 34
  • 34 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SHQ1 33 34 36
  • 46.02 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F03949g 33
  • 45.94 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADL230C 33
  • 45.61 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes shq1 33
  • 47.83 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 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)

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 from dbSNP and Humsavar for SHQ1 Gene

SNP ID Clin Chr 03 pos Variation AA Info Type
rs1000078861 -- 72,827,290(-) T/C intron_variant
rs1000106925 -- 72,774,027(-) T/A/C genic_downstream_transcript_variant, intron_variant
rs1000120115 -- 72,816,943(-) G/C intron_variant
rs1000124401 -- 72,843,185(-) A/G intron_variant
rs1000127011 -- 72,731,758(-) T/C genic_downstream_transcript_variant, intron_variant

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

Additional Disease Information for SHQ1

No disorders were found for SHQ1 Gene.

No data available for MalaCards , 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) 3 4 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 2 3 58
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 58

Products for SHQ1 Gene

Sources for SHQ1 Gene

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