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SHQ1 Gene(Protein Coding)

SHQ1, H/ACA Ribonucleoprotein Assembly Factor

GCID:
GC03M072798
GIFtS:
50
Genes Participants
UDN Logo

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
  • 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.

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.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SHQ1 Gene

Genomics for SHQ1 Gene

Products:

  1. Regulatory Element

Regulatory Elements for SHQ1 Gene

Enhancers for SHQ1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around SHQ1 on UCSC Golden Path with GeneCards custom track

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

Genomic Location for SHQ1 Gene

Chromosome:
3
Start:
72,749,277 bp from pter
End:
72,861,914 bp from pter
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 Structure • Gene Density

RefSeq DNA sequence for SHQ1 Gene

Proteins for SHQ1 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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

Proteomics data for SHQ1 Gene at MOPED

Protein Expression for SHQ1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for SHQ1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SHQ1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for SHQ1 Gene

Domains & Families for SHQ1 Gene

Protein Domains for SHQ1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SHQ1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q6PI26

UniProtKB/Swiss-Prot:

SHQ1_HUMAN :
  • Contains 1 CS domain.
  • Belongs to the SHQ1 family.
Domain:
  • Contains 1 CS domain.
Family:
  • Belongs to the SHQ1 family.
genes like me logo Genes that share domains with SHQ1: view

No data available for Gene Families for SHQ1 Gene

Function for SHQ1 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

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 for SHQ1 Gene

GenomeRNAi human phenotypes for SHQ1:
genes like me logo Genes that share phenotypes with SHQ1: view

Animal Model Products

miRNA for SHQ1 Gene

miRTarBase miRNAs that target SHQ1

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for SHQ1 Gene COMPARTMENTS Subcellular localization image for SHQ1 gene
Compartment Confidence
cytosol 5
nucleus 5

Gene Ontology (GO) - Cellular Components for SHQ1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005730 NOT nucleolus IDA 19383767
GO:0005737 cytoplasm IDA 19383767
GO:0015030 NOT Cajal body IDA 19383767
genes like me logo Genes that share ontologies with SHQ1: view

Pathways & Interactions for SHQ1 Gene

SuperPathways for SHQ1 Gene

PathCards logoMore details on SuperPathways for SHQ1
No Data Available

Gene Ontology (GO) - Biological Process for SHQ1 Gene

GO ID Qualified GO term Evidence PubMed IDs
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

Products:

  1. Drug
No Compound Related Data Available

Transcripts for SHQ1 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for SHQ1 Gene

(7) REFSEQ mRNAs :
(10) Additional mRNA sequences :
(114) Selected AceView cDNA sequences:
(8) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for SHQ1 Gene

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

Inhibitory RNA Products

Flow Cytometry 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

Products:

  1. Primer

mRNA expression in normal human tissues for SHQ1 Gene

mRNA expression in normal human tissues for SHQ1 Gene
mRNA expression by BioGPS for SHQ1 GenemRNA expression by GTEx 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, MOPED, and MaxQB for SHQ1 Gene



SOURCE GeneReport for Unigene cluster for SHQ1 Gene Hs.606584

genes like me logo Genes that share expression patterns with SHQ1: view

Protein tissue co-expression partners for SHQ1 Gene

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt 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
cow
(Bos Taurus)
 Mammalia SHQ1 35
  • 83.88 (n)
  • 80 (a)
SHQ1 36
  • 80 (a)
 OneToOne
dog
(Canis familiaris)
 Mammalia SHQ1 35
  • 85.62 (n)
  • 82.61 (a)
SHQ1 36
  • 83 (a)
 OneToOne
mouse
(Mus musculus)
 Mammalia Shq1 35
  • 79.11 (n)
  • 77.02 (a)
Shq1 16
Shq1 36
  • 76 (a)
 OneToOne
chimpanzee
(Pan troglodytes)
 Mammalia SHQ1 35
  • 99.48 (n)
  • 99.65 (a)
SHQ1 36
  • 100 (a)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Shq1 35
  • 79.41 (n)
  • 77.52 (a)
oppossum
(Monodelphis domestica)
 Mammalia SHQ1 36
  • 63 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia SHQ1 36
  • 71 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves SHQ1 35
  • 67.67 (n)
  • 63.78 (a)
SHQ1 36
  • 59 (a)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia SHQ1 36
  • 54 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia shq1 35
  • 60.52 (n)
  • 58.21 (a)
zebrafish
(Danio rerio)
 Actinopterygii shq1 35
  • 62.18 (n)
  • 61.35 (a)
shq1 36
  • 46 (a)
 OneToOne
rainbow trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.1634 35
fruit fly
(Drosophila melanogaster)
 Insecta CG10055 36
  • 21 (a)
 OneToOne
worm
(Caenorhabditis elegans)
 Secernentea CELE_Y48A5A.1 35
  • 47.08 (n)
  • 38.9 (a)
Y48A5A.1 36
  • 34 (a)
 OneToOne
A. gosspyii yeast
(Ashbya gossypii)
 Saccharomycetes AGOS_ADL230C 35
  • 45.61 (n)
  • 35.53 (a)
K. lactis yeast
(Kluyveromyces lactis)
 Saccharomycetes KLLA0F03949g 35
  • 45.94 (n)
  • 33.83 (a)
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes SHQ1 35
  • 46.02 (n)
  • 30.71 (a)
SHQ1 36
  • 24 (a)
 OneToOne
SHQ1 38
fission yeast
(Schizosaccharomyces pombe)
 Schizosaccharomycetes shq1 35
  • 47.83 (n)
  • 38.25 (a)
sea squirt
(Ciona savignyi)
 Ascidiacea -- 36
  • 44 (a)
 OneToOne
Species with no ortholog for SHQ1:
  • 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 Sequence Context AA Info Type
rs17855677 - 72,841,112(+) AAGCA(A/C/T)TTTCT reference, missense
rs35178407 - 72,750,552(+) AAGAA(C/T)TGACT reference, missense
rs2208 -- 72,822,622(-) AGCAC(A/G)GTATT intron-variant
rs2209 -- 72,822,603(-) GTGGT(A/G)TGGGA intron-variant
rs1106310 -- 72,769,751(+) ACCAG(A/T)CTAAA intron-variant

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

Variant ID Type Subtype PubMed ID
nsv3873 CNV Loss 18451855
esv2659217 CNV Deletion 23128226
nsv523229 CNV Loss 19592680
nsv3874 CNV Insertion 18451855

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)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for SHQ1 Gene

Disorders for SHQ1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for SHQ1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
dyskeratosis congenita
  • revesz syndrome
- elite association - COSMIC cancer census association via MalaCards
Search SHQ1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for SHQ1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 P.N. … Meier U.T. (RNA 2009) 3 4 67
  2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 2 3
  3. Structure and interactions of the CS domain of human H/ACA RNP assembly protein Shq1. (PMID: 25553844) Singh M. … Feigon J. (J. Mol. Biol. 2015) 3
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  5. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3

Products for SHQ1 Gene

Sources for SHQ1 Gene

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